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Gene: Krt75 MGI:1923500

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Gene Summary

Name:
keratin 75
Synonyms:
K6hf,  4732468K03Rik,  Krtcap1,  Krt2-6hf

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
increased total body fat amount Krt75em1(IMPC)Mbp HOM Early adult 6.71×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Krt75 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Krt75 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Pili Gemini
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... ORPHA:79492
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Ringed Hair
Abnormal hair morphology OMIM:180600
Striate Palmoplantar Keratoderma
Abnormality of the nail, Abnormal hair morphology ORPHA:50942
Keratosis Palmoplantaris Striata Iii
Abnormality of the nail, Abnormal hair morphology OMIM:607654
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Angioma Serpiginosum, X-Linked
Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Pili Torti
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... ORPHA:2889
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Woolly Hair, Autosomal Dominant
Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho... OMIM:194300
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:616099
Carvajal Syndrome
Woolly hair ORPHA:65282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Hypotrichosis 7
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly... OMIM:604379
Crandall Syndrome
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia ORPHA:202
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin... OMIM:615885
Witkop Syndrome
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... OMIM:189500
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Hypotrichosis 13
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology OMIM:615896
Monilethrix
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Absent pubic hair, Small nail, Spar... ORPHA:189
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Nail dystrophy, Abnormal hair morphology, Abnormality of the nail, Onychogryposis of toenails, Sp... ORPHA:1808
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail morphology, Fine hair,... ORPHA:248
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Trichodental Dysplasia
Slow-growing hair, Fine hair, Sparse hair, Brittle hair OMIM:601453
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Loose Anagen Syndrome
Abnormal hair whorl, Abnormal hair morphology ORPHA:168
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Erythrokeratodermia Variabilis Et Progressiva 7
Dystrophic toenail, Woolly hair OMIM:619209
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Nail Disorder, Nonsyndromic Congenital, 3
Concave nail, Leukonychia, Abnormal hair morphology OMIM:151600
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic fingernail, Abnormality of the nail, Abnormal fingernail morphology, Fragile nails, T... ORPHA:2228
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:129490
Woolly Hair Nevus
Woolly scalp hair, Curly hair, Congenital posterior occipital alopecia, Patchy hypopigmentation o... ORPHA:79414
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse eyebrow, Fine hair, Alopecia ORPHA:1882
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia OMIM:104100
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Choroidal Atrophy-Alopecia Syndrome
Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenail morphology, Bifid na... ORPHA:1433
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,... ORPHA:113
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Absent pubic hair, Brittle hair, Slow-growing hair, Small nail, S... OMIM:129500
Naxos Disease
Abnormality of hair texture, Sparse scalp hair, Woolly hair, Curly hair ORPHA:34217
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Woolly Hair-Skin Fragility Syndrome
Woolly hair OMIM:620415
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, Small nail, Patchy alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenai... OMIM:613573
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse body hair, Congenital onyc... ORPHA:2890
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Sparse scalp hair, Pili torti, Brittle hair ORPHA:1573
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Brittle hair OMIM:617392
Glycosylphosphatidylinositol Biosynthesis Defect 25
Coarse hair, Sparse hair OMIM:619985
Cardiofaciocutaneous Syndrome 2
Fine hair, Absent eyebrow, Sparse hair, Curly hair OMIM:615278
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Curly hair, Sparse eyelashes, Sparse body... OMIM:602400
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Thick eyebrow, Coarse hair, Synophrys ORPHA:1021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Abnormality of hair texture OMIM:601957
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Small nail, Abnormality of ha... OMIM:234050
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Alopecia of scalp, Fine hair, Sparse scalp hair ORPHA:90368
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Trichoepithelioma, Sparse hair, Pili torti, Coarse hair OMIM:301845
Pachyonychia Congenita 2
Nail dysplasia, Nail dystrophy, Sparse scalp hair, Sparse eyebrow, Subungual hyperkeratosis, Dry ... OMIM:167210
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Sparse hair, Brittle hair ORPHA:1883
Fg Syndrome 3
Frontal upsweep of hair, Fine hair, Sparse hair OMIM:300406
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Nail dystrophy, Woolly hair, Fragile nails OMIM:615821
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Brittle hair, Uncombable hair, Woolly hair, Sparse hair OMIM:614602
Onychotrichodysplasia And Neutropenia
Trichorrhexis nodosa, Hypoplastic fingernail, Curly eyelashes, Curly hair, Short eyelashes, Spars... OMIM:258360
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Sparse scalp hair ORPHA:2324
Trichothiodystrophy 8, Nonphotosensitive
Woolly hair, Trichorrhexis nodosa, Sparse eyebrow, Sparse hair OMIM:619691
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair, Brittle hair OMIM:614940
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Generalized hirsutism, Thick eye... ORPHA:2963
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Olmsted Syndrome 2
Alopecia universalis, Woolly hair, Sparse hair OMIM:619208
Craniofrontonasal Dysplasia
Abnormality of hair texture, Woolly hair, Low posterior hairline, Ridged fingernail, Widow's peak ORPHA:1520
Weaver Syndrome
Thin nail, Deep-set nails, Abnormal fingernail morphology, Hypoplastic toenails, Fine hair ORPHA:3447
Vulto-Van Silfhout-De Vries Syndrome
Horizontal eyebrow, Fine hair, Widow's peak OMIM:615828
Hereditary Mucoepithelial Dysplasia
Fine hair, Sparse hair, Alopecia ORPHA:1839
Acrogeria
Fine hair ORPHA:2500
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Nail dystrophy, Coarse hair, Brittle hair ORPHA:75389
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Onycholysis, Fine hair, Hypoplastic toenails ORPHA:1028
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair ORPHA:643
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Fine hair, High anterior hairline, Long eyelashes ORPHA:231137
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Tiger tail banding, Sparse eyebrow, Sparse hair, Reduced hair su... OMIM:300953
Trichothiodystrophy 6, Nonphotosensitive
Slow-growing hair, Tiger tail banding, Brittle hair OMIM:616943
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Intellectual Developmental Disorder, Autosomal Dominant 34
Coarse hair, Synophrys, Curly hair OMIM:616351
Netherton Syndrome
Trichorrhexis nodosa, Abnormal hair morphology, Sparse scalp hair, Sparse eyelashes, Sparse eyebr... ORPHA:634
Odontoonychodermal Dysplasia
Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Dystrophic toenail, Sparse scalp ... OMIM:257980
Leopard Syndrome 2
Curly hair OMIM:611554
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Uncombable hair, Abnormal hair morphology ORPHA:3082
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys OMIM:252920
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Nail dystrophy, Dry hair, Brittle hair ORPHA:93947
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Alopecia OMIM:605676
Adult Syndrome
Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Sparse scalp ... ORPHA:978
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys OMIM:252900
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Brittle hair, Progressive hypotrichosis, Sparse eyelashes, Sparse eyebrow, Pili t... OMIM:225060
Distal Duplication 6P
Abnormal hair quantity, Fine hair, Abnormal eyelash morphology ORPHA:1745
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Nail dysplasia, Facial hirsutism, Curly eyelashes, Low posterior hairline, Curly hair, Thick eyeb... ORPHA:163654
2Q32Q33 Microdeletion Syndrome
Fine hair, Sparse hair ORPHA:251019
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Trichodermodysplasia-Dental Alterations Syndrome
Sparse or absent eyelashes, Brittle hair, Sparse scalp hair, Sparse lateral eyebrow, Aplasia/Hypo... ORPHA:3353
Rapp-Hodgkin Syndrome
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,... OMIM:129400
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Small nail, Tiger tail banding, Trichoschisis... OMIM:601675
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hirsutism, Hypertrichosis, Synophrys OMIM:252930
Noonan Syndrome 6
Long eyebrows, Curly hair, Low posterior hairline, Sparse hair OMIM:613224
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Sparse scalp hair, Brittle hair OMIM:256500
Hall-Riggs Syndrome
Slow-growing hair, Thick hair, Coarse hair ORPHA:2107
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Cardiofaciocutaneous Syndrome 4
Alopecia of scalp, Absent eyebrow, Sparse eyelashes, Curly hair, Sparse hair OMIM:615280
Tonne-Kalscheuer Syndrome
Concave nail, Fine hair, Small nail OMIM:300978
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dry hair, Nail dystrophy, High anterior hairline, Woolly scalp hair, Sparse scalp hair, Onycholys... OMIM:620519
Noonan Syndrome 5
Fine hair, Small nail, Sparse eyebrow, Curly hair OMIM:611553
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Hirsutism, Woolly hair, Low anterior hairline OMIM:619244
Cutis Laxa, Autosomal Recessive, Type Iia
Abnormality of hair texture, Coarse hair, Brittle hair OMIM:219200
Leopard Syndrome 3
Low posterior hairline, Curly hair OMIM:613707
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Synophrys, Sparse eyebrow, Sparse hair, Curly hair OMIM:620075
Fetal Hydantoin Syndrome
Coarse hair, Hypoplastic fingernail, Low posterior hairline ORPHA:1912
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Fine hair, Sparse hair OMIM:190351
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Naxos Disease
Nail dystrophy, Woolly hair, Curly hair, Onycholysis, Sparse body hair, Sparse eyebrow, Subungual... OMIM:601214
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Sparse hair OMIM:616817
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Sparse hair OMIM:118650
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Synophrys OMIM:619428
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Fine hair, Sparse hair ORPHA:1806
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H... OMIM:308300
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Alopecia ORPHA:228390
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Sparse or absent eyelashes, Sparse lateral eyebrow, Sparse hair, Fine hair, Super... ORPHA:217346
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Sparse hair, Coarse hair, Alopecia OMIM:158310
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:617988
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Tiger tail banding, Brittle hair OMIM:616395
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Abnormality of the nail, Patchy alopecia, Sparse eyelashes, Sparse ey... ORPHA:35173
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Low anterior hairline, Coarse hair ORPHA:2095
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Costello Syndrome
Abnormal hair morphology, Woolly hair, Deep-set nails, Abnormal fingernail morphology, Hypoplasti... ORPHA:3071
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Low anterior hairline, Sparse hair, Synophrys ORPHA:391408
Intellectual Disability, Buenos-Aires Type
Hyperconvex thumb nails, Fine hair, Abnormal fingernail morphology ORPHA:3079
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Noonan Syndrome 8
Curly hair OMIM:615355
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Sparse eyelashes, Sparse eye... ORPHA:1071
Trichorhinophalangeal Syndrome, Type I
Leukonychia, Thin nail, Slow-growing hair, Sparse scalp hair, Sparse lateral eyebrow, Thin eyebro... OMIM:190350
Cerebrofaciothoracic Dysplasia
Low posterior hairline, Synophrys, Abnormal hair pattern, Thick eyebrow, Coarse hair ORPHA:1394
Revesz Syndrome
Nail dystrophy, Nail pits, Ridged fingernail, Sparse hair, Fine hair OMIM:268130
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Fine hair, Synophrys, Long eyelashes OMIM:620250
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Noonan Syndrome 7
Low posterior hairline, Curly hair OMIM:613706
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Multiple Sulfatase Deficiency
Thick eyebrow, Coarse hair ORPHA:585
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Coarse hair ORPHA:1786
Ogden Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Absent eyelashes, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplastia of the ec... OMIM:305100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, White hair ORPHA:935
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Fine hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Macrocephaly/Autism Syndrome
Coarse hair OMIM:605309
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse facial hair, Fine hair, Fair hair OMIM:250250
Chops Syndrome
Thick hair, Synophrys, Long eyelashes, Curly hair, Thick eyebrow, Coarse hair OMIM:616368
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Fine hair, Thick eyebrow OMIM:614800
Cranioectodermal Dysplasia 3
Short nail, Fine hair, Broad nail, Sparse hair OMIM:614099
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Nail dysplasia, Nail dystrophy, Fine hair, Alopecia OMIM:613990
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Argininosuccinic Aciduria
Trichorrhexis nodosa, Dry hair, Brittle hair OMIM:207900
Noonan Syndrome 4
High anterior hairline, Sparse eyebrow, Curly hair OMIM:610733
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Mucopolysaccharidosis-Plus Syndrome
Hirsutism, Low posterior hairline, Synophrys, Long eyelashes, Low anterior hairline, Coarse hair OMIM:617303
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Brittle hair OMIM:608612
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplastic/hypoplastic toenail, Fine hair, Supernumerary nipple, Aplasia/Hypoplasia of the eyebrow ORPHA:1812
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Frontonasal Dysplasia 2
Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair OMIM:613451
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Highly arched eyebrow, Thick eyebrow, Low posterior hairline, Curly hair OMIM:617360
Noonan Syndrome 14
Sparse eyebrow, Curly hair, Low posterior hairline, Sparse hair OMIM:619745
Craniolenticulosutural Dysplasia
Coarse hair, Sparse hair, Brittle hair ORPHA:50814
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Low anterior hairline, Dry hair OMIM:618569
Cardiofaciocutaneous Syndrome
Dystrophic fingernails, Sparse or absent eyelashes, Brittle hair, Slow-growing hair, Abnormal eye... ORPHA:1340
Diamond-Blackfan Anemia 21
Horizontal eyebrow, Coarse hair, Synophrys, Widow's peak OMIM:620072
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Sparse hair OMIM:614438
Hallermann-Streiff Syndrome
Abnormality of hair texture, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alo... ORPHA:2108
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Premature graying of hair, Nail dysplasia, Nail dystrophy, Sparse hair, Fine hair OMIM:612199
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Trisomy 20P
Thick hair, Highly arched eyebrow, Low posterior hairline, Low anterior hairline, Thick eyebrow, ... ORPHA:261318
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Fine hair, Sparse hair OMIM:257850
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Coarse hair OMIM:612394
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Coarse hair, Thick hair, Sparse hair ORPHA:357074
Craniofrontonasal Syndrome
Breast hypoplasia, Ridged nail, Unilateral breast hypoplasia, Low posterior hairline, Curly hair,... OMIM:304110
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Schimke Immunoosseous Dysplasia
Fine hair, Coarse hair OMIM:242900
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Brittle hair, Woolly hair, Curly hair, Sparse hair, Fine hair OMIM:222470
Genitopatellar Syndrome
Fine hair, Sparse scalp hair ORPHA:85201
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Oculodentodigital Dysplasia
Brittle hair, Slow-growing hair, Abnormality of the nail, Curly hair, Abnormal fingernail morphol... ORPHA:2710
Koolen-De Vries Syndrome
Abnormality of hair texture, Fair hair OMIM:610443
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Sparse hair, Brittle hair OMIM:618891
Trichothiodystrophy
Dystrophic fingernails, Alopecia of scalp, Ridged nail, Brittle hair, Sparse scalp hair, Tiger ta... ORPHA:33364
Cerebellofaciodental Syndrome
Fine hair, Sparse eyebrow OMIM:616202
Mucopolysaccharidosis, Type Iiid
Facial hirsutism, Hirsutism, Synophrys, Thick eyebrow, Coarse hair OMIM:252940
2P15P16.1 Microdeletion Syndrome
Fine hair, Supernumerary nipple, Sparse eyebrow, Long eyelashes ORPHA:261349
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High anterior hairline, Highly arched eyebrow, Slow-growing hair, Low posterior hairline, Curly h... OMIM:617506
Trichohepatoneurodevelopmental Syndrome
Thoracic hypertrichosis, Hypoplastic nipples, Woolly hair, Long eyelashes, Curly hair, Synophrys,... OMIM:618268
Oculodentodigital Dysplasia
Slow-growing hair, Fragile nails, Sparse hair, Fine hair, Dry hair OMIM:164200
Eec Syndrome
Nail dystrophy, Slow-growing hair, Sparse eyebrow, Nail pits, Thick eyebrow, Fine hair, Coarse hair ORPHA:1896
Craniolenticulosutural Dysplasia
Coarse hair, Sparse hair, Brittle hair OMIM:607812
Mucopolysaccharidosis, Type Vii
Hirsutism, Thick eyebrow, Coarse hair OMIM:253220
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nail dystrophy, Sparse scalp hair, Sparse eyelashes, Onycholysis, Sparse eyebrow, Fine hair OMIM:614748
Cardiofaciocutaneous Syndrome 1
Slow-growing hair, Absent eyelashes, Low posterior hairline, Curly hair, Absent eyebrow, Sparse hair OMIM:115150
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2637
Chand Syndrome
Nail dysplasia, Curly hair ORPHA:1401
Syndromic Diarrhea
Trichorrhexis nodosa, Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair ORPHA:84064
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Absent eyelashes, Absent eyebrow, Abnormal hair pattern, Sparse hair, Fine hair ORPHA:920
Weaver Syndrome
Deep-set nails, Fine hair, Thin nail, Sparse hair OMIM:277590
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Fine hair, Sparse hair ORPHA:251028
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Sparse scalp hair, Long eyelashes, Curly hair, Sparse hair OMIM:607721
Noonan Syndrome 10
Sparse eyebrow, Curly hair OMIM:616564
Cerebellar-Facial-Dental Syndrome
Fine hair, Sparse eyebrow, Sparse hair ORPHA:444072
Adrenomyeloneuropathy
Fine hair, Frontal balding ORPHA:139399
Nicolaides-Baraitser Syndrome
Sparse scalp hair, Low posterior hairline, Long eyelashes, Absent eyebrow, Low anterior hairline,... OMIM:601358
Woodhouse-Sakati Syndrome
Fine hair, Sparse hair, Alopecia OMIM:241080
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:234100
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair OMIM:613563
Opitz-Kaveggia Syndrome
Frontal upsweep of hair, Fine hair, Sparse hair OMIM:305450
Scalp-Ear-Nipple Syndrome
Nail dysplasia, Breast aplasia, Patchy alopecia, Sparse pubic hair, Sparse axillary hair, Sparse ... OMIM:181270
Dubowitz Syndrome
Sparse scalp hair, Sparse lateral eyebrow, Abnormal fingernail morphology, Low anterior hairline,... ORPHA:235
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Facial hirsutism, Thick hair, Highly arched eyebrow, Synophrys, Long eyelashes, Curly hair, Abnor... ORPHA:444077
Mucolipidosis Type Ii
Fine hair, White hair, Dry hair ORPHA:576
Mucopolysaccharidosis Type 3
Thick hair, Hirsutism, Synophrys, Generalized hirsutism, Coarse hair ORPHA:581
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thick eyebrow, Abnormality of hair texture, Hypoplastic sweat glands, Synophrys ORPHA:73223
Cranioectodermal Dysplasia 1
Thin nail, Slow-growing hair, Short nail, Sparse hair, Fine hair OMIM:218330
Lysinuric Protein Intolerance
Fine hair, Sparse hair OMIM:222700
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Thick eyebrow, Sparse hair, Hypertrichosis OMIM:602535
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Hajdu-Cheney Syndrome
Synophrys, Abnormal fingernail morphology, Generalized hirsutism, Thick eyebrow, Low anterior hai... ORPHA:955
Orofaciodigital Syndrome Type 1
Alopecia, Coarse hair, Sparse hair, Brittle hair ORPHA:2750
Orofaciodigital Syndrome I
Dry hair, Sparse hair, Alopecia OMIM:311200
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Sparse hair, Brittle hair OMIM:252500
Chime Syndrome
Fine hair, Sparse hair ORPHA:3474
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Hypoplastic nipples, Sparse lateral eyebrow, Sparse hair, Fine hair OMIM:280000
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Occipital Horn Syndrome
Coarse hair, Pili torti OMIM:304150
Cockayne Syndrome B
Dry hair, Sparse hair, Abnormal hair morphology OMIM:133540
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High anterior hairline, Long eyelashes, Sparse lateral eyebrow, Horizontal eyebrow, Curly hair, T... OMIM:619950
Melnick-Needles Syndrome
Frontal hirsutism, Coarse hair OMIM:309350
Noonan Syndrome
Abnormal hair quantity, Coarse hair, Low posterior hairline ORPHA:648
Noonan Syndrome 2
Sparse eyebrow, Low posterior hairline, Curly hair OMIM:605275
Fontaine Progeroid Syndrome
Small nail, Hypoplastic nipples, Absent nipple, Low posterior hairline, Sparse scalp hair, Synoph... OMIM:612289
Myhre Syndrome
Fine hair, Thick eyebrow, Sparse hair OMIM:139210
Cockayne Syndrome Type 3
Premature graying of hair, Dry hair ORPHA:90324
Distal Deletion 12Q
Fine hair, Small nail ORPHA:96149
Cockayne Syndrome A
Dry hair, Sparse hair OMIM:216400
Costello Syndrome
Thin nail, Curly hair, Deep-set nails, Fragile nails, Sparse hair, Concave nail OMIM:218040
Focal Dermal Hypoplasia
Nail dysplasia, Nail dystrophy, Ridged nail, Brittle hair, Hypoplastic nipples, Patchy alopecia, ... OMIM:305600
Zttk Syndrome
Sparse eyebrow, Broad eyebrow, Curly hair OMIM:617140
Renpenning Syndrome 1
Sparse lateral eyebrow, Sparse hair, Brittle hair OMIM:309500
Occipital Horn Syndrome
Thick hair, Coarse hair ORPHA:198
Coffin-Siris Syndrome 1
Sparse scalp hair, Long eyelashes, Thick eyebrow, Hypertrichosis, Anonychia, Lumbosacral hirsutis... OMIM:135900
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Coffin-Lowry Syndrome
Highly arched eyebrow, Thick eyebrow, Coarse hair, Hyperconvex fingernails OMIM:303600
Ogden Syndrome
Sparse eyebrow, Fine hair, Long eyelashes OMIM:300855
Neuroocular Syndrome
Brittle hair, Highly arched eyebrow, Small nail, Distichiasis, Synophrys, Long eyelashes, Thick e... OMIM:619539
Cockayne Syndrome
Fine hair, Dry hair ORPHA:191
Oculocerebrorenal Syndrome Of Lowe
Fine hair, Sparse scalp hair ORPHA:534
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:210710
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High anterior hairline, Medial flaring of the eyebrow, Thoracic hypertrichosis, Hirsutism, Sparse... OMIM:619503
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair ORPHA:83617
Noonan Syndrome 1
Woolly hair, Low posterior hairline OMIM:163950
Witteveen-Kolk Syndrome
High anterior hairline, Medial flaring of the eyebrow, Fragile nails, Hyperconvex nail, Fine hair OMIM:613406
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Curly hair, Broad lateral eyebrow ORPHA:500150
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplastic nipples, Hypertrichosis, Curly hair ORPHA:480880
Liver Disease, Severe Congenital
Nail dystrophy, Dry hair OMIM:619991
Vascular Ehlers-Danlos Syndrome
Alopecia, Abnormal eyelash morphology, Abnormality of hair texture, Aplasia/Hypoplasia of the eye... ORPHA:286
Alström Syndrome
Fine hair, Hirsutism, Frontal balding ORPHA:64

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 Krt75

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 Krt75.

No publications found that use IMPC mice or data for Krt75.

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MGI Allele Allele Type Produced
Krt75em1(IMPC)Mbp Exon Deletion Mice, Tissue

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