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Gene: Cldn1 MGI:1276109

Gene Summary

Name:

claudin 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Cldn1^{tm1b(NCOM)Mfgc}	HOM		Early adult	0.00
abnormal retina morphology		Cldn1^{tm1b(NCOM)Mfgc}	HET		Early adult	3.84×10^-06

Download data as: TSV XLS

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lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	0.0% (0 of 2)
Axial skeleton	N/A	homozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 3)
Brain	N/A	homozygote	0.0% (0 of 5)
Central nervous system ganglion	N/A	heterozygote	0.0% (0 of 2)
Central nervous system ganglion	N/A	homozygote	0.0% (0 of 2)
Ear	N/A	heterozygote	0.0% (0 of 3)
Ear	N/A	homozygote	0.0% (0 of 5)
Embryo	N/A	heterozygote	66.67% (2 of 3)
Embryo	N/A	homozygote	40% (2 of 5)
Eye	N/A	heterozygote	0.0% (0 of 3)
Eye	N/A	homozygote	0.0% (0 of 5)
Footplate	N/A	heterozygote	0.0% (0 of 3)
Footplate	N/A	homozygote	0.0% (0 of 5)
Forebrain	N/A	heterozygote	0.0% (0 of 3)
Forebrain	N/A	homozygote	0.0% (0 of 5)
Forelimb	N/A	heterozygote	0.0% (0 of 3)
Forelimb	N/A	homozygote	0.0% (0 of 5)
Gut	N/A	heterozygote	0.0% (0 of 2)
Gut	N/A	homozygote	0.0% (0 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 3)
Handplate	N/A	homozygote	0.0% (0 of 5)
Head	N/A	heterozygote	0.0% (0 of 3)
Head	N/A	homozygote	0.0% (0 of 5)
Heart	N/A	heterozygote	0.0% (0 of 3)
Heart	N/A	homozygote	0.0% (0 of 5)
Hindbrain	N/A	heterozygote	0.0% (0 of 3)
Hindbrain	N/A	homozygote	0.0% (0 of 5)
Hindlimb	N/A	heterozygote	0.0% (0 of 3)
Hindlimb	N/A	homozygote	0.0% (0 of 5)
Liver	N/A	heterozygote	0.0% (0 of 3)
Liver	N/A	homozygote	0.0% (0 of 5)
Lung	N/A	heterozygote	0.0% (0 of 3)
Lung	N/A	homozygote	0.0% (0 of 5)
Mandibular process	N/A	heterozygote	0.0% (0 of 3)
Mandibular process	N/A	homozygote	0.0% (0 of 5)
Maxillary process	N/A	heterozygote	0.0% (0 of 3)
Maxillary process	N/A	homozygote	0.0% (0 of 5)
Midbrain	N/A	heterozygote	0.0% (0 of 3)
Midbrain	N/A	homozygote	0.0% (0 of 5)
Nose	N/A	heterozygote	0.0% (0 of 2)
Nose	N/A	homozygote	0.0% (0 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 3)
Oral cavity	N/A	homozygote	0.0% (0 of 5)
Skeleton	N/A	heterozygote	0.0% (0 of 2)
Skeleton	N/A	homozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	66.67% (2 of 3)
Skin	N/A	homozygote	40% (2 of 5)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	homozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 3)
Tail somite	N/A	homozygote	0.0% (0 of 5)
Tail	N/A	heterozygote	0.0% (0 of 3)
Tail	N/A	homozygote	0.0% (0 of 5)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	homozygote	0.0% (0 of 2)
Urinary system	N/A	heterozygote	0.0% (0 of 2)
Urinary system	N/A	homozygote	0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Embryo LacZ

LacZ images wholemount

32 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Histopathology

Images

2 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Immunophenotyping

Panel A FCS file(s)

3 Images

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Human diseases caused by Cldn1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Cldn1 (2 diseases)
Human diseases predicted to be associated with Cldn1 (824 diseases)

The table below shows human diseases associated to Cldn1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis		Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Pruritus, Sparse eyebrow, Jaundice, Sparse...	OMIM:607626
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome		Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Jaundice, Ichthy...	ORPHA:59303

The table below shows human diseases predicted to be associated to Cldn1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinitis Pigmentosa, Late-Adult Onset	Rod-cone dystrophy	OMIM:268025
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Retinitis Pigmentosa 24	Cone dystrophy, Rod-cone dystrophy	OMIM:300155
Retinitis Pigmentosa, Y-Linked	Rod-cone dystrophy	OMIM:400004
Retinitis Pigmentosa 55	Rod-cone dystrophy	OMIM:613575
Cone-Rod Dystrophy, X-Linked, 2	Cone/cone-rod dystrophy, Cone dystrophy	OMIM:300085
Retinitis Pigmentosa 67	Rod-cone dystrophy	OMIM:615565
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Choroidal Dystrophy, Central Areolar, 3	Drusen, Chorioretinal atrophy	OMIM:613144
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Porokeratosis Plantaris Palmaris Et Disseminata	Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal...	ORPHA:737
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis	ORPHA:735
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars...	ORPHA:505
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Aquagenic Palmoplantar Keratoderma	Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic...	ORPHA:498359
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis	OMIM:101900
Ulerythema Ophryogenesis	Acne, Miscarriage, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C...	ORPHA:3406
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Anonychia With Flexural Pigmentation	Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular h...	ORPHA:69125
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Fragile skin	OMIM:615028
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythrode...	ORPHA:312
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I...	ORPHA:79503
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis, Cutaneous photosensitivity	ORPHA:1336
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi...	ORPHA:89838
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Chronic Hiccup	Dehydration, Weight loss	ORPHA:396
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Lamellar Ichthyosis	Pruritus, Erythroderma, Dehydration, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse ...	ORPHA:313
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of...	ORPHA:90368
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Dermatoleukodystrophy	Thickened skin, Premature skin wrinkling, Progeroid facial appearance	OMIM:221790
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Cachexia	ORPHA:2574
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Alopecia, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyper...	ORPHA:79395
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Lymphatic Malformation 4	Prominent superficial veins, Lymphedema, Pedal edema, Hyperkeratosis, Toenail dysplasia	OMIM:615907
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Dehydration	OMIM:601410
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Dehydration	OMIM:610370
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Weig...	ORPHA:317
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Skin fragility with non-scarring blistering, Na...	ORPHA:79399
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Ectodermal dysplasia, Palmoplantar k...	OMIM:224750
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Netherton Syndrome	Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abn...	ORPHA:2584
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst...	ORPHA:166113
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hirsutism	ORPHA:2812
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Dehydration	OMIM:614265
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa...	OMIM:619208
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery...	ORPHA:64745
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, ...	OMIM:607602
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Reticular Dysgenesis	Skin rash, Skin ulcer, Dehydration, Weight loss, Failure to thrive	ORPHA:33355
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Dehydration	OMIM:251850
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Pustule, Dehydration, Long eyelashes, Failure to thrive	OMIM:616069
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Netherton Syndrome	Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti...	OMIM:256500
Coloboma Of Macula	Macular coloboma	OMIM:120300
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ichthyosis, Orthokeratosis	OMIM:607936
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Scaling skin, Palmoplantar keratoderma, Fragile skin	OMIM:146590
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp...	ORPHA:2200
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Ichthyosis Prematurity Syndrome	Polyhydramnios, Pruritus, Dermatographic urticaria, Generalized ichthyosis, Follicular hyperkerat...	OMIM:608649
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat...	OMIM:602400
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Ectodermal Dysplasia-Syndactyly Syndrome 2	Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ich...	OMIM:613576
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Transaldolase Deficiency	Premature skin wrinkling, Hydrops fetalis, Edema, Telangiectasia	ORPHA:101028
Bathing Suit Ichthyosis	Parakeratosis, Alopecia, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar ...	ORPHA:100976
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera...	OMIM:300918
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Alopecia, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform eryt...	OMIM:242300
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h...	ORPHA:2199
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,...	ORPHA:90280
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring bl...	ORPHA:79397
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Harlequin Ichthyosis	Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis	ORPHA:457
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi...	OMIM:613102
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Darier Disease	Acrokeratosis, Pruritus, Thickened skin, Abnormal hair morphology, Palmoplantar keratoderma, Skin...	ORPHA:218
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop...	OMIM:148700
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper...	OMIM:620014
Central Diabetes Insipidus	Failure to thrive, Dehydration, Weight loss	ORPHA:178029
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycho...	OMIM:616295
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair	OMIM:618625
Alg8-Cdg	Small for gestational age, Abnormality of subcutaneous fat tissue, Edema, Hydrops fetalis, Cutis ...	ORPHA:79325
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:28
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Atrophoderma Vermiculata	Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Skin ulcer, Hyperkeratosis, Onycholysis	ORPHA:525
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss, Edema, Dehydration	ORPHA:103910
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Familial Cold Urticaria	Pruritus, Urticaria, Erythema, Dehydration	ORPHA:47045
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Patchy alopecia	OMIM:247100
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Abnormality of the nail, Skin vesicle	ORPHA:254478
Transient Neonatal Diabetes Mellitus	Failure to thrive, Small for gestational age, Dehydration	ORPHA:99886
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker...	ORPHA:2897
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering...	ORPHA:158681
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Combined Oxidative Phosphorylation Deficiency 36	Premature skin wrinkling, Failure to thrive	OMIM:617950
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Palmop...	OMIM:605676
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor...	ORPHA:494
Hypercalcemia, Infantile, 1	Failure to thrive, Dehydration, Weight loss	OMIM:143880
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Generalized...	ORPHA:2269
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palm...	OMIM:308800
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Thick hair, Polyhydramnios, Edema, Pericardial effusion, Large for g...	ORPHA:363705
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Ascites, Palmoplantar keratoderma	ORPHA:2198
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, Hyperkeratosis, Congeni...	OMIM:242100
Pemphigus Vulgaris	Urticaria, Recurrent cutaneous abscess formation, Weight loss, Acantholysis	ORPHA:704
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Weight loss, Fine hair, Ic...	ORPHA:2221
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle...	ORPHA:2500
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebro...	OMIM:610768
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Hyperkeratosis, Coarse hair, Sparse hair, Hidrotic ectodermal dysplasia	ORPHA:1883
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy	ORPHA:89843
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:289504
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ...	ORPHA:79151
Ramon Syndrome	Hyperkeratosis, Failure to thrive, Telangiectasia of the skin, Generalized hirsutism	ORPHA:3019
Pulmonary Blastoma	Weight loss	ORPHA:64741
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A...	ORPHA:2963
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Dry skin, Cutis laxa, Hyperkeratosis, Ichthyosis, Failure to thrive, Hypertrichosis	OMIM:612379
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Noonan Syndrome 8	Curly hair, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Palmoplantar cutis...	OMIM:615355
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Dehydration	OMIM:618958
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Vulvovaginal Gingival Syndrome	Pruritus, Ridged nail, Parakeratosis, Erythema	ORPHA:83453
Ichthyosis With Confetti	Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Hypoplastic nipples, Congenital nonbullous i...	OMIM:609165
Trichothiodystrophy 1, Photosensitive	Death in infancy, Brittle hair, Small for gestational age, Trichoschisis, Fine hair, Telangiectas...	OMIM:601675
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Progeroid facial appearance, Failure to thrive, Small for gestational age, Slender build	ORPHA:50811
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Dehydration, Death in childhood, Failure to thrive, Hirsutism	OMIM:214150
Focal Facial Dermal Dysplasia 3, Setleis Type	Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis	OMIM:227260
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Hypergranulosis, Sho...	OMIM:257980
Methylmalonyl-Coa Epimerase Deficiency	Failure to thrive, Dehydration	OMIM:251120
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Failure to thrive	OMIM:143860
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Excessive wrinkl...	ORPHA:3051
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Dehydration	OMIM:602722
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Small for gestational age, Jaundice, Dehydration, Ichthyosis, Failure to thrive...	OMIM:208085
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous ichthyosiform erythrode...	OMIM:614457
Cog7-Cdg	Excessive wrinkled skin, Jaundice, Failure to thrive, Small for gestational age	ORPHA:79333
Tuberculosis	Weight loss	ORPHA:3389
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s...	OMIM:617337
Sjögren-Larsson Syndrome	Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:816
Microphthalmia, Syndromic 8	Premature skin wrinkling	OMIM:601349
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Death in adolescence, Dehydration, Death in childhood	OMIM:560000
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Cachexia, Abnormal hair morphology, Thickened skin, Lack of ...	ORPHA:1979
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Pustule, Atopic dermatitis, Dehydration, Weight loss	ORPHA:171876
Glucose/Galactose Malabsorption	Failure to thrive, Hypertonic dehydration	OMIM:606824
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Eczema, Xerostomia, Dry skin, Hyperkeratosis, Aplasia/...	ORPHA:238468
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Prolidase Deficiency	Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Low anterior hairline...	ORPHA:742
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex...	ORPHA:2309
Superficial Epidermolytic Ichthyosis	Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis	ORPHA:455
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Dowling-Degos Disease	Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Ge...	ORPHA:79145
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Toenail dysplasia, Pedal edema, Hyperkeratosis, ...	ORPHA:79452
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Erythema, Weight loss, Urticaria	ORPHA:703
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry...	ORPHA:1028
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Dehydration	OMIM:610600
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Dehydration	OMIM:203400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema...	OMIM:137940
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive	OMIM:609180
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Dehydration	ORPHA:79312
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Pruritus, Sparse eyebrow, Jaundice, Sparse...	OMIM:607626
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ...	OMIM:615508
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Dehydration	OMIM:264350
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Prematurely...	ORPHA:1807
Congenital Short Bowel Syndrome	Failure to thrive, Dehydration	OMIM:615237
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Glucose-Galactose Malabsorption	Failure to thrive, Dehydration, Weight loss	ORPHA:35710
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin	ORPHA:263534
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Sparse medial eyebrow, Low anterior hairline...	OMIM:601358
Myoclonic-Astatic Epilepsy	Premature skin wrinkling, Frontal balding	ORPHA:1942
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Costello Syndrome	Deep-set nails, Failure to thrive in infancy, Abnormal fingernail morphology, Polyhydramnios, Con...	ORPHA:3071
Autosomal Agammaglobulinemia	Recurrent skin infections, Failure to thrive, Skin rash, Dehydration	ORPHA:33110
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Prematurely aged appearance, Dry skin, Low posterior hairline, Premature ...	ORPHA:2617
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Small for gestational age, Sparse facial hair, Sparse axillary hair, Progeroid facial appearance,...	OMIM:608154
Cardiofaciocutaneous Syndrome	Brittle hair, Failure to thrive in infancy, Slow-growing hair, Redundant skin, Lymphedema, Abnorm...	ORPHA:1340
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Telangiectasia, Telangiectasia of the skin, Lymphedema	ORPHA:79279
Insulin Autoimmune Syndrome	Acanthosis nigricans, Weight loss	ORPHA:411593
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Dehydration	OMIM:177735
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Cutaneous photosensitivity, Vasculitis i...	ORPHA:163525
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato...	ORPHA:182
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,...	OMIM:614941
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Idiopathic Achalasia	Weight loss	ORPHA:930
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Naxos Disease	Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker...	OMIM:601214
Carnitine Deficiency, Systemic Primary	Failure to thrive, Dehydration	OMIM:212140
Ataxia-Telangiectasia	Hypopigmentation of hair, Prematurely aged appearance, Telangiectasia of the skin, Premature gray...	ORPHA:100
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderma, Premature ...	ORPHA:363618
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp	ORPHA:530
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin	OMIM:613707
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Congenital ichthyosiform erythroderma, Failure to thrive	OMIM:242500
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Cog5-Cdg	Abnormality of the frontal hairline, Premature skin wrinkling, Oligohydramnios	ORPHA:263487
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Follicular Lymphoma	Pleural effusion, Weight loss, Lymphedema	ORPHA:545
Propionic Acidemia	Failure to thrive, Eczema, Dehydration	OMIM:606054
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Fontaine Progeroid Syndrome	Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Death in infancy, ...	OMIM:612289
Acute Myelomonocytic Leukemia	Pallor, Weight loss	ORPHA:517
Isovaleric Acidemia	Dehydration	OMIM:243500
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Failure to thrive, Curly hair	OMIM:615279
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Dehydration	ORPHA:556030
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Skin ulcer, We...	ORPHA:37
Galactose Epimerase Deficiency	Jaundice, Weight loss	ORPHA:79238
Osteootohepatoenteric Syndrome	Pruritus, Dehydration, Weight loss, Prolonged neonatal jaundice, Failure to thrive	OMIM:619377
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Cachexia, Lymphedema, Hypoplastic toenails, Dystrophic ...	ORPHA:2930
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Broad nail, Skin ulcer, Hyperkerat...	ORPHA:1334
Eosinophilic Fasciitis	Muscular edema, Acrocyanosis, Edema, Weight loss	ORPHA:3165
Geroderma Osteodysplasticum	Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ...	OMIM:231070
Short Syndrome	Premature skin wrinkling, Small for gestational age, Prominent superficial veins	OMIM:269880
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Pruritus, Weight loss	ORPHA:86893
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Bruising susceptibility, Follicular hyperkeratosis	ORPHA:300179
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Premature graying of hair, Excessive wrinkled skin, Nail dystrophy, Generalize...	ORPHA:3322
Werner Syndrome	Sparse scalp hair, Miscarriage, Prematurely aged appearance, Telangiectasia of the skin, Abnormal...	ORPHA:902
Secondary Short Bowel Syndrome	Failure to thrive, Dehydration, Weight loss	ORPHA:95427
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C...	OMIM:219200
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Congenital Tufting Enteropathy	Failure to thrive, Dehydration, Weight loss	ORPHA:92050
Cutis Laxa, Autosomal Dominant 3	Premature skin wrinkling, Cutis laxa, Dermal translucency	OMIM:616603
Beta-Ketothiolase Deficiency	Weight loss, Pallor, Edema, Dehydration	ORPHA:134
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Low posterior hairline, Telangiectasia,...	OMIM:604173
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re...	OMIM:300953
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke...	OMIM:615225
Vitamin B12-Unresponsive Methylmalonic Acidemia	Dehydration	ORPHA:27
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Anonychia, Palmoplantar keratoderma, Nail dystrophy	OMIM:616029
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Incontinentia Pigmenti	Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Erythema, Nail pits, Fine h...	OMIM:308300
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Pustule, Erythema, Nail dystrophy	OMIM:614204
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Dehydration	OMIM:251000
Adrenal Hypoplasia, Congenital	Failure to thrive, Dehydration	OMIM:300200
Cystinosis	Failure to thrive, Dehydration	ORPHA:213
Barber-Say Syndrome	Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterio...	OMIM:209885
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased adipose tissue around neck, Sma...	OMIM:606721
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Failure to thrive, Dehydration	OMIM:615453
Gaucher Disease, Perinatal Lethal	Decreased body weight, Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Congenital nonb...	OMIM:608013
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Wolcott-Rallison Syndrome	Jaundice, Ascites, Dehydration, Decreased body weight	ORPHA:1667
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Folli...	ORPHA:158668
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d...	OMIM:615726
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic h...	OMIM:148210
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:1806
Acquired Partial Lipodystrophy	Generalized hirsutism, Progeroid facial appearance	ORPHA:79087
Thanatophoric Dysplasia Type 1	Redundant skin, Polyhydramnios, Increased nuchal translucency, Excessive wrinkled skin, Acanthosi...	ORPHA:1860
Stuve-Wiedemann Syndrome 1	Sparse hair, Death in infancy, Premature skin wrinkling, Oligohydramnios	OMIM:601559
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Sparse eyebrow, Palmoplantar hyperkeratosi...	OMIM:167210
Malignant Peritoneal Mesothelioma	Ascites, Pedal edema, Weight loss	ORPHA:168811
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Pruritus, Anonychia, Palmoplantar keratoderma, Nail dystrophy, Sm...	ORPHA:79410
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Polyhydramnios, Dehydration	OMIM:214700
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Poor wound healing	ORPHA:36386
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Thick hair, Redundant skin, Abnormal subcutaneous fat tissue distribution, P...	ORPHA:357074
Microvillus Inclusion Disease	Pruritus, Dehydration	ORPHA:2290
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Cutis marmorata, Failure to thrive in infancy, Hyperkeratosis, Frontal upsweep of hair, Broad eye...	OMIM:301220
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Dry skin, Hyperkeratosis, Peau d'orange, Failure to thrive	OMIM:614576
Pseudomyxoma Peritonei	Ascites, Weight loss	ORPHA:26790
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis	OMIM:609638
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Dry skin, Follicular hyperkeratosis	ORPHA:486815
Short Syndrome	Sparse hair, Excessive wrinkled skin, Alopecia, Weight loss	ORPHA:3163
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Isaacs Syndrome	Weight loss	ORPHA:84142
3-Hydroxy-3-Methylglutaric Aciduria	Edema, Jaundice, Dehydration, Weight loss, Pallor	ORPHA:20
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Thymic Carcinoma	Palpebral edema, Edema, Weight loss	ORPHA:99868
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood, Fa...	OMIM:557000
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Fa...	OMIM:612940
Xfe Progeroid Syndrome	Prematurely aged appearance, Cachexia, Dry skin, Death in adolescence, Ascites, Cutaneous photose...	OMIM:610965
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Cutaneous photosensitivity, Ma...	ORPHA:398124
Arthrogryposis Multiplex Congenita 5	Death in infancy, Premature skin wrinkling, Polyhydramnios	OMIM:618947
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Pleural Mesothelioma	Pleural effusion, Weight loss	ORPHA:50251
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Fg Syndrome Type 1	Frontal upsweep of hair, Slender build, Facial wrinkling	ORPHA:93932
Poems Syndrome	Edema, Pericardial effusion, Thickened skin, Abnormality of skin physiology, Leukonychia, Weight ...	ORPHA:2905
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypertonic dehydration	OMIM:304800
Keppen-Lubinsky Syndrome	Progeroid facial appearance, Premature skin wrinkling, Failure to thrive, Polyhydramnios	ORPHA:435628
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Ectodermal dysplasia, Atrichia, Periungual erythema, Death in childhood,...	OMIM:308205
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair	ORPHA:2611
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal toenail morphology, Prematurely aged appearance, Low posterior hairline	ORPHA:1387
Cholera	Palmoplantar cutis laxa, Miscarriage, Dehydration	ORPHA:173
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Jaundice, Ichthy...	ORPHA:59303
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Dehydration	OMIM:251110
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Skin rash, Edema, Pruritus, Weight loss, Palmoplantar pustulosis	ORPHA:324964
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Skin rash, Failure to thrive in infancy, Pustule, Joint swelling, Hyperkeratosis	OMIM:612852
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Scaling skin	ORPHA:454831
Cutis Laxa, Autosomal Recessive, Type Iiib	Prominent superficial veins, Cutis laxa, Fine hair, Excessive wrinkled skin, Sparse hair, Dermal ...	OMIM:614438
Mulibrey Nanism	Cachexia	ORPHA:2576
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Skin rash, Skin ulcer, Weight loss, Failure to t...	ORPHA:47
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Failure to thrive, Hirsutism, Dehydration	ORPHA:90791
Donohue Syndrome	Hyperkeratosis, Severe failure to thrive, Nail dysplasia, Acanthosis nigricans, Hypertrichosis	OMIM:246200
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Wilson Disease	Pruritus, Jaundice, Increased body weight, Weight loss, Joint swelling, Failure to thrive, Bruisi...	ORPHA:905
Renal Hypoplasia	Small for gestational age, Dehydration	ORPHA:93101
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Holocarboxylase Synthetase Deficiency	Alopecia, Weight loss, Eczema, Perioral eczema	ORPHA:79242
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Deafness-Lymphedema-Leukemia Syndrome	Weight loss, Pallor, Bruising susceptibility, Lymphedema	ORPHA:3226
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Lip telangiectasia, An...	ORPHA:79280
Werner Syndrome	Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcification, Scleroderma...	OMIM:277700
Nodular Non-Suppurative Panniculitis	Erythema, Edema, Weight loss	ORPHA:33577
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Dehydration, Oligohydramnios	OMIM:263200
Darier-White Disease	Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments	OMIM:124200
Campomelia, Cumming Type	Death in infancy, Prematurely aged appearance, Lymphedema, Hydrops fetalis, Oligohydramnios	ORPHA:1318
Autosomal Recessive Cutis Laxa Type 2A	Excessive wrinkled skin, Thick hair, Progeroid facial appearance	ORPHA:357058
Lysosomal Acid Lipase Deficiency	Cachexia, Pruritus, Jaundice, Dehydration, Weight loss, Ascites, Failure to thrive	ORPHA:275761
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Benign Recurrent Intrahepatic Cholestasis	Pruritus, Jaundice, Weight loss	ORPHA:65682
Alternating Hemiplegia Of Childhood	Dehydration, Pallor, Thin eyebrow, Failure to thrive, Flushing	ORPHA:2131
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis,...	OMIM:607721
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Small for gesta...	OMIM:264090
Polyarteritis Nodosa	Erythema, Cutis marmorata, Skin ulcer, Weight loss	ORPHA:767
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Congenital Muscular Dystrophy Due To Lmna Mutation	Death in infancy, Cachexia	ORPHA:157973
Majeed Syndrome	Inflammatory abnormality of the skin, Acne, Cachexia, Edema, Pustule, Weight loss, Failure to thrive	ORPHA:77297
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Prematurely aged appearance, Thickened skin, Palmoplantar hyperkerat...	OMIM:601812
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Osteosarcoma	Joint swelling, Weight loss	ORPHA:668
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Dehydration	OMIM:251100
Pseudoxanthoma Elasticum	Acne, Skin rash, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle...	ORPHA:758
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Recurrent skin infections, Edema, Paronychia, Fragile skin, Dehydration, Anonychia, Pyo...	ORPHA:79404
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Prematurely aged appearance, Skin rash, Cachexia, Dry skin, Urticaria, Cutaneous photosensitivity	ORPHA:220295
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Dehydration	OMIM:616271
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Jaundice, Low anterior hairline, Excessive wrinkled skin, Failure to thrive, Hy...	OMIM:608779
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Trichiasis, Hyperkeratosis, Ectodermal dysplasia, Nail dysplasia, Trichodysplasia...	OMIM:601701
Idiopathic Chronic Eosinophilic Pneumonia	Pleural effusion, Generalized abnormality of skin, Atopic dermatitis, Weight loss	ORPHA:2902
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Failure to thrive, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Juvenile Dermatomyositis	Alopecia, Skin rash, Palpebral edema, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer,...	ORPHA:93672
Fucosidosis	Failure to thrive, Vascular skin abnormality, Acrocyanosis, Generalized hyperkeratosis, Abnormali...	ORPHA:349
Shigellosis	Urticaria, Failure to thrive in infancy, Dehydration, Purpura	ORPHA:810
Vipoma	Erythema, Dehydration, Intermittent jaundice, Weight loss, Ascites, Subcutaneous lipoma	ORPHA:97282
Flynn-Aird Syndrome	Alopecia, Skin ulcer, Cachexia	ORPHA:2047
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Loss of eyelashe...	ORPHA:740
19Q13.11 Microdeletion Syndrome	Cachexia, Supernumerary nipple, Dry skin, Fine hair, Sparse or absent eyelashes, Nail dysplasia, ...	ORPHA:217346
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Dry hair, Cachexia, Fine hair, Cutaneous photosensitivity, P...	ORPHA:191
Kaposi Sarcoma	Weight loss, Skin rash, Lymphedema	ORPHA:33276
Huntington Disease-Like 2	Weight loss	OMIM:606438
Aggressive Systemic Mastocytosis	Maculopapular exanthema, Pruritus, Weight loss, Urticaria, Ascites, Flushing	ORPHA:98850
Opitz-Kaveggia Syndrome	Sparse hair, Frontal upsweep of hair, Facial wrinkling, Fine hair	OMIM:305450
Allergic Bronchopulmonary Aspergillosis	Abnormal fingernail morphology, Weight loss	ORPHA:1164
Eosinophilic Gastroenteritis	Ascites, Atopic dermatitis, Edema, Weight loss	ORPHA:2070
Ramon Syndrome	Angiokeratoma, Telangiectasia, Hyperkeratosis, Decreased body weight, Hypertrichosis	OMIM:266270
Ogden Syndrome	Redundant neck skin, Prematurely aged appearance, Eczema, Redundant skin, Lymphedema, Sparse eyeb...	OMIM:300855
Yao Syndrome	Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss	OMIM:617321
Classic Hodgkin Lymphoma	Pruritus, Skin rash, Weight loss	ORPHA:391
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Sparse hair, Premature ski...	OMIM:200110
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse...	OMIM:224900
Laron Syndrome	Truncal obesity, Prematurely aged appearance	ORPHA:633
Incontinentia Pigmenti	Alopecia, Skin rash, Abnormal fingernail morphology, Supernumerary nipple, Telangiectasia of the ...	ORPHA:464
Kanzaki Disease	Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu...	OMIM:609242
Reactive Arthritis	Pustule, Weight loss, Joint swelling, Hyperkeratosis, Dystrophic fingernails, Abnormality of the ...	ORPHA:29207
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Sparse scalp hair, Prominent scalp veins, Dermal translucenc...	ORPHA:3455
Dend Syndrome	Dehydration	ORPHA:79134
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
De Barsy Syndrome	Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Spars...	ORPHA:2962
Noonan Syndrome 2	Curly hair, Polyhydramnios, Sparse eyebrow, Increased nuchal translucency, Low posterior hairline...	OMIM:605275
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion, Weight loss	ORPHA:411703
Colchicine Poisoning	Alopecia, Dehydration	ORPHA:31824
Oligomeganephronia	Small for gestational age, Dehydration	ORPHA:2260
Mucoepithelial Dysplasia, Hereditary	Alopecia, Chronic mucocutaneous candidiasis, Coarse hair, Nail dystrophy, Follicular hyperkeratos...	OMIM:158310
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Atopic dermatiti...	OMIM:115150
Christianson Syndrome	Death in early adulthood, Thick eyebrow, Cachexia	ORPHA:85278
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Cutis laxa	ORPHA:75496
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Increased nuchal translucency, Hyperkeratosis, Palmoplantar cutis lax...	OMIM:616564
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbi...	OMIM:308050
Desmoplastic Small Round Cell Tumor	Ascites, Cachexia, Weight loss	ORPHA:83469
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Sparse scalp hair, Brittle hair, Split nail, Ec...	ORPHA:33364
Sialidosis Type 1	Hyperkeratosis, Vascular skin abnormality	ORPHA:812
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Dehydration, Weight loss	ORPHA:99885
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Thin eyebrow, Cachexia	ORPHA:3242
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Small for gestational age, Lack of facial subcutaneous fat, Prematurely aged appearance...	ORPHA:2959
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Concave nail, Absent eyela...	OMIM:305100
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata, Dehydration	OMIM:259900
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ...	ORPHA:90153
Mcdonough Syndrome	Synophrys, Cachexia	ORPHA:2471
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Angioedema, Erythema, Weight loss, Erythroderma	ORPHA:139402
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Cachexia, Polyhydramnios	OMIM:618186
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Ehlers-Danlos Syndrome, Classic-Like, 2	Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Low...	OMIM:618000
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Failure to thrive, Hydrops fetalis, Dehydration	ORPHA:79282
Leishmaniasis	Pallor, Skin ulcer, Weight loss	ORPHA:507
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Non-Functioning Paraganglioma	Flushing, Pallor, Weight loss	ORPHA:94080
Autosomal Dominant Cutis Laxa	Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Premature skin wrin...	ORPHA:90348
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin	ORPHA:137608
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Alopecia, Brittle hair, Decreased adipose tissue around neck, Prominent...	OMIM:608612
Recon Progeroid Syndrome	Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absent lower eyelashes,...	OMIM:620370
Bone Dysplasia, Lethal Holmgren Type	Redundant neck skin, Failure to thrive, Weight loss	ORPHA:1842
Wild Type Attr Amyloidosis	Pleural effusion, Weight loss, Pedal edema, Pulmonary edema	ORPHA:330001
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Failure to thrive, Polyhydramnios	ORPHA:223
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Thickened skin, Weight loss, Hyperkeratosis, Long eyelashes, Bruising s...	ORPHA:79430
Bone Marrow Failure Syndrome 3	Eczema, Hyperkeratosis, Nail dystrophy, Small nail, Sparse hair, Failure to thrive, Aplasia/Hypop...	OMIM:617052
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormal hair morphology, Nai...	ORPHA:90154
Scleromyxedema	Aged leonine appearance, Pruritus, Thickened skin, Generalized abnormality of skin, Sclerodactyly	ORPHA:167635
Graves Disease, Susceptibility To, 1	Onycholysis, Weight loss	OMIM:275000
Gapo Syndrome	Alopecia, Sparse eyelashes, Palpebral edema, Prematurely aged appearance, Sparse eyebrow, Early b...	ORPHA:2067
Systemic Capillary Leak Syndrome	Pleural effusion, Weight loss, Pedal edema, Pulmonary edema	ORPHA:188
Focal Myositis	Weight loss	ORPHA:48918
Wrinkly Skin Syndrome	Redundant skin, Short nail, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet...	OMIM:278250
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Acne, Miscarriage, Frontal balding, Dehydration, Weight loss, Failure to thrive, Hirsutism	ORPHA:90794
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Thickened skin, Erythema, Dry ...	ORPHA:910
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Death in infancy, Dehydration, Fine hair, Skin ulcer, Joint swelling, Failure ...	ORPHA:534
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia, Progeroid facial appearance	OMIM:617763
Atypical Werner Syndrome	Abnormal hair quantity, Decreased body weight, Alopecia, Prematurely aged appearance, Prominent s...	ORPHA:79474
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Ablepharon Macrostomia Syndrome	Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri...	ORPHA:920
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly	OMIM:610644
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Xerostomia, Nail dystrophy, Nail dysplasia	OMIM:175500
Infantile Nephropathic Cystinosis	Failure to thrive, Dehydration	ORPHA:411629
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Bartter Syndrome Type 4	Small for gestational age, Polyhydramnios, Dehydration, Severe failure to thrive, Failure to thrive	ORPHA:89938
Tetrasomy 12P	Sparse hair, Sparse eyebrow, Cachexia	ORPHA:884
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Weight loss, Pleural effusion, Ascites, Generalized edema	ORPHA:90362
Seckel Syndrome	Sparse scalp hair, Prematurely aged appearance, Cachexia	ORPHA:808
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Polyhydramnios	ORPHA:2774
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Xerostomia, Nail pits, Fine hair, Hyperkeratosis, Coarse hair,...	ORPHA:1896
Takayasu Arteritis	Skin ulcer, Weight loss	ORPHA:3287
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Ullrich Congenital Muscular Dystrophy 1	Failure to thrive, Slender build, Follicular hyperkeratosis	OMIM:254090
Dermatomyositis	Abnormal hair quantity, Telangiectasia of the skin, Edema, Periorbital edema, Pruritus, Erythema,...	ORPHA:221
Rheumatoid Arthritis	Joint swelling, Weight loss	OMIM:180300
Mycetoma	Recurrent bacterial skin infections, Prominent superficial veins, Cobblestone-like hyperkeratosis	ORPHA:2583
Pyruvate Carboxylase Deficiency	Failure to thrive, Dehydration	ORPHA:3008
Gm1 Gangliosidosis	Thickened skin, Hydrops fetalis, Weight loss, Failure to thrive, Generalized hirsutism, Hirsutism	ORPHA:354
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Orthokera...	ORPHA:79501
Perry Syndrome	Weight loss	ORPHA:178509
Wolman Disease	Ascites, Cachexia	ORPHA:75233
Aicardi-Goutieres Syndrome 9	Chilblains, Edema, Pericardial effusion, Dry skin, Weight loss, Ascites, Failure to thrive	OMIM:619487
Pearson Syndrome	Small for gestational age, Hydrops fetalis, Dehydration, Corneal stromal edema, Cutaneous photose...	ORPHA:699
Pfapa Syndrome	Weight loss	ORPHA:42642
Budd-Chiari Syndrome	Jaundice, Ascites, Weight loss	ORPHA:131
Microsporidiosis	Cachexia, Dehydration, Weight loss	ORPHA:2552
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Generalized hirsutism, Cachexia	ORPHA:1933
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Weight loss	ORPHA:86884
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Poor wound healing, Excessive wrinkled skin, Follicular hyperkeratosis, Palmoplantar cutis laxa, ...	OMIM:225400
Cystinosis, Nephropathic	Hypopigmentation of hair, Failure to thrive in infancy, Dehydration, Weight loss	OMIM:219800
Ménétrier Disease	Peripheral edema, Weight loss	ORPHA:2494
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Dry hair, Small for gestational age, Prematurely aged appear...	OMIM:133540
Distal Renal Tubular Acidosis	Failure to thrive, Dehydration	ORPHA:18
Paternal Uniparental Disomy Of Chromosome 6	Hypoplastic fingernail, Dehydration, Oligohydramnios	ORPHA:96191
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Failure to thrive, Dehydration	ORPHA:168558
Down Syndrome	Sparse hair, Prematurely aged appearance, Obesity	ORPHA:870
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Failure to thrive, Dehydration	ORPHA:289548
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Pneumocystosis	Pleural effusion, Weight loss, Chronic oral candidiasis	ORPHA:723
Primary Myelofibrosis	Cachexia, Pallor, Ecchymosis, Petechiae, Purpura	ORPHA:824
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Xer...	OMIM:604292
Peripheral Primitive Neuroectodermal Tumor	Pruritus, Jaundice, Ascites, Weight loss	ORPHA:370348
Juvenile Nephropathic Cystinosis	Failure to thrive, Dehydration	ORPHA:411634
Bartter Syndrome, Type 1, Antenatal	Failure to thrive, Small for gestational age, Polyhydramnios, Dehydration	OMIM:601678
Aredyld Syndrome	Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Cachexia	ORPHA:1133
Adrenocortical Carcinoma	Hypertrichosis, Increased body weight, Striae distensae, Weight loss	ORPHA:1501
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss	ORPHA:298
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Progeroid facial appe...	OMIM:614008
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Curly hair, Prematurely aged appearance, Low anterior hairli...	OMIM:619950
Primary Fanconi Renotubular Syndrome	Dehydration, Weight loss	ORPHA:3337
Rhabdoid Tumor	Weight loss	ORPHA:69077
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Xer...	OMIM:129900
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Leprechaunism	Facial hypertrichosis, Reduced subcutaneous adipose tissue, Thickened skin, Hyperkeratosis, Decre...	ORPHA:508
Neuroleptic Malignant Syndrome	Dehydration	ORPHA:94093
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair	ORPHA:3474
Dermatosparaxis Ehlers-Danlos Syndrome	Excessive wrinkled skin, Abnormality of subcutaneous fat tissue	ORPHA:1901
Cryptogenic Organizing Pneumonia	Cyanosis, Weight loss	ORPHA:1302
Acute Promyelocytic Leukemia	Weight loss, Ecchymosis, Bruising susceptibility, Petechiae, Purpura	ORPHA:520
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Eczema, Abnormal eyelash morphology, Abnormal hair mor...	ORPHA:2273
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Progeroid facial appearance	ORPHA:412057
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Cutis marmorata, Weight loss, Urticaria, Acrocyanosis, Purpura	ORPHA:183
Chronic Graft Versus Host Disease	Alopecia, Poor wound healing, Thickened skin, Erythema, Xerostomia, Skin ulcer, Weight loss, Onyc...	ORPHA:99921
Immunodeficiency 27A	Weight loss	OMIM:209950
Bartter Syndrome, Type 2, Antenatal	Failure to thrive, Small for gestational age, Polyhydramnios, Dehydration	OMIM:241200
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Weight loss	ORPHA:514
Cap Polyposis	Weight loss	ORPHA:160148
Liposarcoma	Weight loss	ORPHA:69078
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut...	OMIM:123700
Kikuchi-Fujimoto Disease	Alopecia, Skin rash, Palpebral edema, Pruritus, Pustule, Erythema, Weight loss, Cutaneous photose...	ORPHA:50918
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Generalized hirsutism, Prematur...	ORPHA:280365
Marburg Hemorrhagic Fever	Skin rash, Maculopapular exanthema, Jaundice, Dehydration, Bruising susceptibility, Petechiae	ORPHA:99826
Insulin-Resistance Syndrome Type B	Alopecia, Skin rash, Abnormality of body weight, Increased body weight, Weight loss, Decreased bo...	ORPHA:2298
Restrictive Dermopathy 1	Prominent superficial blood vessels, Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hype...	OMIM:275210
Mucolipidosis Type Ii	Dry hair, Thickened skin, White hair, Weight loss, Fine hair, Telangiectases of the cheeks, Oligo...	ORPHA:576
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Familial Thrombocytosis	Pruritus, Miscarriage, Weight loss	ORPHA:71493
Cystic Fibrosis	Failure to thrive, Dehydration	OMIM:219700
Celiac Disease, Susceptibility To, 1	Alopecia, Failure to thrive, Eczema, Weight loss	OMIM:212750
Gallbladder Neuroendocrine Tumor	Intermittent jaundice, Ascites, Weight loss	ORPHA:100086
X-Linked Intellectual Disability, Cabezas Type	Abnormal hair pattern, Cachexia, Synophrys, Obesity, Acanthosis nigricans	ORPHA:85293
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Rat-Bite Fever	Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Weight loss, Scaling skin, Morbill...	ORPHA:31205
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Death in infancy, Sparse eyelashes, Sparse eyebrow, Dry skin, Fine hair, Hyper...	OMIM:210710
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,...	ORPHA:37042
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Chronic Beryllium Disease	Weight loss	ORPHA:133
Primary Hepatic Neuroendocrine Carcinoma	Intermittent jaundice, Ascites, Facial telangiectasia, Weight loss	ORPHA:100085
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Hyperkeratosis, Acral ulcer...	ORPHA:548
Proximal Renal Tubular Acidosis	Failure to thrive, Dehydration	ORPHA:47159
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Abnormal toenail m...	ORPHA:2908
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pruritus, Weight loss, Urticaria, Pallor, Flushing	ORPHA:98849
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Klatskin Tumor	Jaundice, Weight loss	ORPHA:99978
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Sporadic Pheochromocytoma/Secreting Paraganglioma	Flushing, Pallor, Weight loss	ORPHA:276621
Polycythemia Vera	Pruritus, Bruising susceptibility, Weight loss	ORPHA:729
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance, Oligoh...	OMIM:616914
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Progeroid facial appe...	OMIM:216400
Giant Cell Arteritis	Alopecia, Skin ulcer, Weight loss	ORPHA:397
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Imerslund-Gräsbeck Syndrome	Failure to thrive, Pallor, Weight loss	ORPHA:35858
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Malignant Atrophic Papulosis	Pleural effusion, Telangiectasia of the skin, Weight loss	ORPHA:679
Acquired Generalized Lipodystrophy	Acanthosis nigricans, Generalized hirsutism, Progeroid facial appearance	ORPHA:79086
Geroderma Osteodysplastica	Prematurely aged appearance, Redundant skin	ORPHA:2078
Al Amyloidosis	Peripheral edema, Xerostomia, Bruising susceptibility, Weight loss	ORPHA:85443
Multiple Endocrine Neoplasia Type 1	Dehydration, Weight loss	ORPHA:652
Cushing Syndrome Due To Ectopic Acth Secretion	Plethora, Sparse scalp hair, Purpura, Striae distensae, Acne, Dorsocervical fat pad, Poor wound h...	ORPHA:99889
Lymphoid Interstitial Pneumonia	Failure to thrive, Skin rash, Eczema, Weight loss	ORPHA:79128
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma	OMIM:620189
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Toxic Epidermal Necrolysis	Erythema, Weight loss, Skin ulcer, Acantholysis	ORPHA:537
X-Linked Creatine Transporter Deficiency	Redundant skin, Cachexia	ORPHA:52503
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline	OMIM:615510
Thymic Neuroendocrine Tumor	Prominent veins on trunk, Weight loss	ORPHA:97289
Refractory Celiac Disease	Inflammatory abnormality of the skin, Weight loss	ORPHA:398063
Amoebiasis Due To Entamoeba Histolytica	Pleural effusion, Pleural empyema, Weight loss	ORPHA:67
Bronchial Neuroendocrine Tumor	Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss	ORPHA:97287
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Small for gestational age, Eczema, Hyperkeratosis, Ectodermal dysplasia, Ichthyosis, Fa...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Small for gestational age, Eczema, Hyperkeratosis, Ectodermal dysplasia, Ichthyosis, Fa...	ORPHA:363958
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Redundant skin, Progeroid facial appearance, Periorbital edema, Cutis laxa, Dea...	OMIM:613177
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Nephroblastoma	Weight loss	ORPHA:654
Caroli Disease	Pruritus, Jaundice, Ascites, Weight loss	ORPHA:53035
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Lymphatic Filariasis	Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema	ORPHA:2035
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bruising susceptibility, Follicular hyperkeratosis, Polyhydramnios, Cutis laxa	OMIM:614557
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint swelling, Weight loss	ORPHA:465508
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous photosensitivity, Cutaneous t...	OMIM:615919
Fabry Disease	Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Lymphedema, Hyperkeratosi...	ORPHA:324
Wrinkly Skin Syndrome	Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Cutis laxa, Ex...	ORPHA:2834
Aicardi-Goutieres Syndrome 7	Skin rash, Chilblains, Edema, Pericardial effusion, Atopic dermatitis, Weight loss, Urticaria, Ol...	OMIM:615846
Restrictive Dermopathy	Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the ...	ORPHA:1662
Simple Cryoglobulinemia	Weight loss, Cold urticaria, Acral ulceration, Vascular skin abnormality, Purpura	ORPHA:91139
Castleman Disease	Jaundice, Anasarca, Weight loss	ORPHA:160
Q Fever	Maculopapular exanthema, Pericardial effusion, Weight loss, Pleural effusion, Purpura	ORPHA:781
Stevens-Johnson Syndrome	Erythema, Weight loss, Acantholysis	ORPHA:36426
Noonan Syndrome With Multiple Lentigines	Excessive wrinkled skin	ORPHA:500
Glucagonoma	Skin rash, Necrolytic migratory erythema, Pruritus, Weight loss, Intermittent jaundice, Ascites, ...	ORPHA:97280
Perry Syndrome	Weight loss	OMIM:168605
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cutaneous photosensitivity, Cachexia	ORPHA:3217
Proteasome-Associated Autoinflammatory Syndrome 1	Sparse axillary hair, Progeroid facial appearance, Erythema nodosum, Erythema, Death in adolescen...	OMIM:256040
Thymoma	Scleroderma, Weight loss	ORPHA:99867
Neuroendocrine Tumor Of The Colon	Facial telangiectasia, Weight loss	ORPHA:100080
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Low anterior hairline, Obesity, Hyperkeratosis, Failure to thrive	ORPHA:75857
Ileal Neuroendocrine Tumor	Dermatological manifestations of systemic disorders, Edema, Weight loss	ORPHA:100078
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Oromandibular Dystonia	Weight loss	ORPHA:93958
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Keppen-Lubinsky Syndrome	Progeroid facial appearance, Failure to thrive, Lack of facial subcutaneous fat, Polyhydramnios	OMIM:614098
Cystic Echinococcosis	Urticaria, Jaundice, Weight loss	ORPHA:400
Loeffler Endocarditis	Weight loss	ORPHA:75566
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Fatal Familial Insomnia	Weight loss	OMIM:600072
Bannayan-Riley-Ruvalcaba Syndrome	Cutis marmorata, Cachexia, Lymphedema, Telangiectasia, Subcutaneous hemorrhage	ORPHA:109
Alveolar Echinococcosis	Jaundice, Weight loss, Pedal edema, Cutaneous abscess	ORPHA:284
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Hereditary Amyloidosis With Primary Renal Involvement	Purpura, Petechiae, Weight loss	ORPHA:85450
Acute Adrenal Insufficiency	Dry skin, Failure to thrive, Sparse axillary hair, Weight loss	ORPHA:95409
Hereditary Pheochromocytoma-Paraganglioma	Flushing, Pallor, Weight loss	ORPHA:29072
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Weight loss	OMIM:256700
Cockayne Syndrome Type 2	Progeroid facial appearance	ORPHA:90322
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Weight loss	ORPHA:747
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Death in early adulthood, Slender build, Cachexia, Weight loss	OMIM:603041
De Sanctis-Cacchione Syndrome	Parakeratosis, Cutaneous photosensitivity, Telangiectasia	OMIM:278800
Late-Onset Isolated Acth Deficiency	Failure to thrive, Dry skin, Weight loss	ORPHA:199299
Primary Sclerosing Cholangitis	Spider hemangioma, Pruritus, Jaundice, Dilated superficial abdominal veins, Weight loss, Palmar t...	ORPHA:171
Neuroendocrine Tumor Of The Rectum	Facial telangiectasia, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Facial telangiectasia, Weight loss	ORPHA:100082
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat...	ORPHA:83617
Cockayne Syndrome Type 1	Cutaneous photosensitivity, Failure to thrive, Progeroid facial appearance	ORPHA:90321
Lynch Syndrome	Death in infancy, Death in early adulthood, Weight loss	ORPHA:144
Felty Syndrome	Weight loss	ORPHA:47612
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Pedal edema, Weight loss	ORPHA:49041
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Prematurely aged appearance, Redundant skin	ORPHA:3342
Whipple Disease	Cachexia, Pedal edema	ORPHA:3452
Mandibuloacral Dysplasia Progeroid Syndrome	Progeroid facial appearance, Sparse eyebrow, Palmoplantar hyperkeratosis, Nail dystrophy, Death i...	OMIM:619127
Polymyositis	Weight loss	ORPHA:732
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick...	ORPHA:73223
Riddle Syndrome	Conjunctival telangiectasia, Erythema, Telangiectasia, Weight loss, Scaling skin	ORPHA:420741
Erdheim-Chester Disease	Joint swelling, Pleural effusion, Skin rash, Weight loss	ORPHA:35687
Ppoma	Intermittent jaundice, Ascites, Subcutaneous lipoma, Weight loss	ORPHA:97278
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Saul-Wilson Syndrome	Prominent superficial veins, Progeroid facial appearance	OMIM:618150
Chromosome Xp11.3 Deletion Syndrome	Progeroid facial appearance	OMIM:300578
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Weight loss	ORPHA:309031
Anemia, Congenital Dyserythropoietic, Type Iv	Hydrops fetalis, Weight loss	OMIM:613673
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Telangiectasia of the skin, Seborrheic dermatitis	ORPHA:276280
Warburg-Cinotti Syndrome	Poor wound healing, Joint swelling, Erythema, Follicular hyperkeratosis	OMIM:618175
Pancreatoblastoma	Jaundice, Weight loss	ORPHA:677
Neuroendocrine Tumor Of Stomach	Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss	ORPHA:100075
Schwartz-Jampel Syndrome	Abnormal eyebrow morphology, Death in infancy, Cachexia, Polyhydramnios, Low anterior hairline, D...	ORPHA:800
Arterial Tortuosity Syndrome	Progeroid facial appearance, Bruising susceptibility, Telangiectases of the cheeks, Cutis laxa	OMIM:208050
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Immunodeficiency 31C	Eczema, Chronic mucocutaneous candidiasis, Weight loss, Chronic oral candidiasis, Recurrent vulvo...	OMIM:614162
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Classical Ehlers-Danlos Syndrome	Striae distensae, Prematurely aged appearance, Poor wound healing, Joint swelling, Blepharochalas...	ORPHA:287
Somatostatinoma	Intermittent jaundice, Ascites, Subcutaneous lipoma, Weight loss	ORPHA:97283
Pyomyositis	Recurrent cutaneous abscess formation, Weight loss	ORPHA:764
Familial Glucocorticoid Deficiency	Failure to thrive, Weight loss	ORPHA:361
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Kyphoscoliotic Ehlers-Danlos Syndrome	Poor wound healing, Synophrys, Follicular hyperkeratosis, Bruising susceptibility, Fragile skin	ORPHA:536545
Xeroderma Pigmentosum, Complementation Group B	Cutaneous photosensitivity, Progeroid facial appearance	OMIM:610651
Tropical Pancreatitis	Jaundice, Weight loss	ORPHA:103918
Infantile Krabbe Disease	Failure to thrive, Cachexia	ORPHA:206436
Grfoma	Intermittent jaundice, Ascites, Subcutaneous lipoma, Weight loss	ORPHA:97261
Granulomatosis With Polyangiitis	Skin ulcer, Weight loss	OMIM:608710
Granulomatosis With Polyangiitis	Skin rash, Periorbital edema, Skin ulcer, Weight loss, Purpura	ORPHA:900
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Pallor, Abnormal hair quantity, Weight loss	ORPHA:91347
Addison Disease	Dry skin, Failure to thrive, Sparse axillary hair, Weight loss	ORPHA:85138
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Palpable purpura, Cutis marmorata, Weight loss, Vasculitis ...	ORPHA:48435
Brucellosis	Small for gestational age, Miscarriage, Weight loss, Pleural effusion, Failure to thrive, Purpura	ORPHA:1304
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Nijmegen Breakage Syndrome	Abnormal hair quantity, Cachexia, Abnormal hair morphology, Low anterior hairline, Cutaneous phot...	ORPHA:647
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Rett Syndrome	Cachexia	OMIM:312750
Lenz-Majewski Hyperostotic Dwarfism	Hyperconvex fingernails, Prematurely aged appearance, Redundant skin, Hypoplastic fingernail	ORPHA:2658
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Trisomy 18	Abnormal toenail morphology, Cachexia, Oligohydramnios	ORPHA:3380
Multiple Myeloma	Pleural effusion, Weight loss	ORPHA:29073
Pulmonary Alveolar Microlithiasis	Peripheral edema, Cyanosis, Weight loss	ORPHA:60025
Cowden Syndrome	Failure to thrive, Palmoplantar keratoderma, Generalized hyperkeratosis, Mucosal telangiectasiae	ORPHA:201
Proteus Syndrome	Cachexia, Lymphedema, Thickened skin, Abnormal subcutaneous fat tissue distribution, Vascular ski...	ORPHA:744
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint swelling, Weight loss	ORPHA:85408
Vascular Ehlers-Danlos Syndrome	Alopecia, Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Abnormality of...	ORPHA:286
Familial Pancreatic Carcinoma	Jaundice, Weight loss	ORPHA:1333
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Polyhydramnios, Weight loss	ORPHA:2020
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Familial Colorectal Cancer Type X	Weight loss	ORPHA:440437
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss	OMIM:607459
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Skin rash, Weight loss	OMIM:301074
Cerebrotendinous Xanthomatosis	Prematurely aged appearance, Prolonged neonatal jaundice	ORPHA:909
Immunodeficiency 82 With Systemic Inflammation	Recurrent skin infections, Skin rash, Weight loss, Joint swelling, Vasculitis in the skin, Pustul...	OMIM:619381
Branchioskeletogenital Syndrome	Absent nipple, Highly arched eyebrow, Synophrys, Blepharochalasis, Periorbital wrinkles	ORPHA:1299
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Williams Syndrome	Death in early adulthood, Abnormal fingernail morphology, Failure to thrive in infancy, Redundant...	ORPHA:904
Zollinger-Ellison Syndrome	Jaundice, Erythema, Weight loss	ORPHA:913
Igg4-Related Dacryoadenitis And Sialadenitis	Facial edema, Xerostomia, Palpebral edema, Weight loss	ORPHA:79078
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Sarcoidosis	Alopecia, Maculopapular exanthema, Erythema nodosum, Weight loss, Joint swelling, Chylothorax, Pl...	ORPHA:797
Behçet Disease	Pleural effusion, Acne, Weight loss	ORPHA:117
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Fanconi Anemia	Weight loss, Oligohydramnios	ORPHA:84
Nocardiosis	Pleural effusion, Weight loss, Cutaneous abscess	ORPHA:31204
African Trypanosomiasis	Alopecia, Miscarriage, Pruritus, Jaundice, Weight loss	ORPHA:3385
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pleural effusion, Weight loss	OMIM:181000
Malt Lymphoma	Weight loss	ORPHA:52417
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Pedal edema, Weight loss	ORPHA:449395
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
Juvenile Polyposis Of Infancy	Subcutaneous lipoma, Cachexia	ORPHA:79076
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Poor wound healing, Ecchymosis, Skin ulcer, Cachexia	ORPHA:2072
Tubulointerstitial Nephritis And Uveitis Syndrome	Weight loss, Skin rash, Cystoid macular edema, Macular edema	ORPHA:91500
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Parathyroid Carcinoma	Weight loss	ORPHA:143
Marfan Syndrome	Striae distensae, Slender build, Cachexia	ORPHA:558
Camurati-Engelmann Disease	Abnormal subcutaneous fat tissue distribution, Slender build, Cachexia	ORPHA:1328
Goodpasture Syndrome	Cyanosis, Pallor, Weight loss	OMIM:233450
Tropical Endomyocardial Fibrosis	Cachexia, Peripheral edema, Ascites, Pedal edema	ORPHA:75565
Choreoacanthocytosis	Weight loss	ORPHA:2388
Stickler Syndrome	Slender build, Cachexia	ORPHA:828
Norrie Disease	Failure to thrive, Cachexia	ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cldn1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cldn1.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Claudin-12 Knockout Mice Demonstrate Reduced Proximal Tubule Calcium Permeability.	International journal of molecular sciences (March 2020)	Cldn12^{tm1(KOMP)Vlcg}	PMC7139911
Claudin-12 is not required for blood-brain barrier tight junction function.	Fluids and barriers of the CNS (September 2019)	Cldn12^{tm1b(EUCOMM)Wtsi}	PMC6739961
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Cldn16^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Cldn16^{tm1a(KOMP)Wtsi}	PMC6459510
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Cldn19^{tm1.1(KOMP)Vlcg}	PMC5503261
Claudin-18 deficiency is associated with airway epithelial barrier dysfunction and asthma.	The Journal of allergy and clinical immunology (April 2016)	Cldn18^{tm1(KOMP)Vlcg}	PMC5073041
A gene expression resource generated by genome-wide lacZ profiling in the mouse.	Disease models & mechanisms (August 2015)	Cldn16^{tm1a(KOMP)Wtsi}	PMC4631787
Claudin-18 deficiency results in alveolar barrier dysfunction and impaired alveologenesis in mice.	American journal of respiratory cell and molecular biology (October 2014)	Cldn18^{tm1(KOMP)Vlcg}	PMC4189483

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MGI Allele	Allele Type	Produced
Cldn1^{tm1a(NCOM)Mfgc}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cldn1^{tm50419(L1L2_NTARU-2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cldn1^{tm1b(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Cldn1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cldn1^{tm278498(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cldn1^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cldn1 MGI:1276109

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Embryo LacZ

Gross Pathology and Tissue Collection

MicroCT E14.5-E15.5

Histopathology

Eye Morphology

Combined SHIRPA and Dysmorphology

Immunophenotyping

Human diseases caused by Cldn1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data