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Gene: Cep55 MGI:1921357

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Gene Summary

Name:
centrosomal protein 55
Synonyms:
1200008O12Rik,  2700032M20Rik

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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
abnormal ovary morphology Cep55em1(IMPC)Tcp HET Late adult 0.00
abnormal sternum morphology Cep55em1(IMPC)Tcp HET Late adult 0.00
small kidney Cep55em1(IMPC)Tcp HET Late adult 0.00
preweaning lethality, complete penetrance Cep55em1(IMPC)Tcp HOM Early adult 0.00
cataract Cep55em1(IMPC)Tcp HET Late adult 5.09×10-05
small uterus Cep55em1(IMPC)Tcp HET Late adult 0.00
preweaning lethality, incomplete penetrance Cep55em1(IMPC)Tcp HOM   Early adult 0.00

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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.

Eye Morphology

Images Ophthalmoscopy

138 Images

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Eye Morphology

Images Slit Lamp

42 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

13 Images

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MicroCT E18.5

Embryo reconstruction

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel B FCS file(s)

3 Images

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Immunophenotyping

Panel A FCS file(s)

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Human diseases caused by Cep55 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.

The table below shows human diseases associated to Cep55 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Redundant neck skin, Renal hypoplasia, Renal cyst, Ureteral agenesis, Hypoplasia of the brainstem... OMIM:236500

The table below shows human diseases predicted to be associated to Cep55 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract, Cryptorchidism OMIM:274205
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Satoyoshi Syndrome
Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ... ORPHA:3130
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Hypoplasia of the uterus, Azo... OMIM:601076
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Brachydactyly OMIM:615995
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Pallor, Anorexia ORPHA:79283
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Trichomegaly
Cataract OMIM:190330
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract OMIM:619813
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Pallor, Dysphagia, Abnormal upper motor neuron morphology, Cerebral corti... OMIM:606353
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Deformed humerus, Abnormality of the uterus, Abn... ORPHA:2975
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism, Genu ... ORPHA:1381
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate... OMIM:609441
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Satoyoshi Syndrome
Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,... OMIM:600705
Meckel Syndrome 12
Rocker bottom foot, Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of t... OMIM:616258
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short thumb, Short metacarpal, Cataract, Cryptorchidism ORPHA:2489
Absence Deformity Of Leg-Cataract Syndrome
Abnormal epiphysis morphology, Cataract, Abnormal femur morphology, Lower limb undergrowth ORPHA:2310
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Galactosemia Iv
Cataract OMIM:618881
Seckel Syndrome 7
Abnormal carpal morphology, Hypoplasia of the uterus, Hip dysplasia, Clinodactyly of the 5th fing... OMIM:614851
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Rudiger Syndrome
Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis, Short digit OMIM:268650
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Martsolf Syndrome 2
Cataract, Overlapping toe, Camptodactyly of finger, Hypogonadotropic hypogonadism, Developmental ... OMIM:619420
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Familial Focal Epilepsy With Variable Foci
Focal cortical dysplasia, Polymicrogyria, Pallor, Hemimegalencephaly ORPHA:98820
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly, Cataract OMIM:183800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Pallor, Dysphagia OMIM:613561
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Peripheral Cone Dystrophy
Pallor OMIM:609021
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Fanconi Anemia, Complementation Group I
Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Renal hypoplasia, Horseshoe kidne... OMIM:609053
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Pallor, Anorexia, Microcephaly OMIM:500007
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Brachydactyly ORPHA:247768
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm ORPHA:523
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Cataract, Renal insufficiency, Cryptorchidism, Hand polyd... ORPHA:2377
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Poly... ORPHA:2229
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Cataract, Broad hallux, Short metatarsal, Flattened epiphysis, Irregular ... ORPHA:1856
Optic Atrophy 1
Pallor OMIM:165500
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Agitation, Pallor, Polyphagia ORPHA:324575
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Agitation, Pallor ORPHA:276608
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia OMIM:617914
Amed Syndrome, Digenic
Hypoplasia of the uterus, Long thumb OMIM:619151
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Agitation, Polyphagia, Large for gestational age ORPHA:276556
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Anorexia, Nephrocalcinosis, Pallor, Distal renal tubular acidosis, Failure to thrive OMIM:611590
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Perrault Syndrome 4
Hypoplasia of the uterus, Increased circulating gonadotropin level, Bicornuate uterus, Hypoplasia... OMIM:615300
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe OMIM:229230
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Agitation, Polyphagia, Large for gestational age ORPHA:276575
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Fumarase Deficiency
Relative macrocephaly, Failure to thrive, Increased urine succinate level, Microcephaly, Mitochon... OMIM:606812
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Agitation, Polyphagia, Large for gestational age ORPHA:276580
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, Cataract, Broad thumb ORPHA:3173
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Cataract, Cryptorchidism, Abnormal rib morphology, Ambiguous genitalia ORPHA:2772
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract, Aplasia/Hypoplasia of the patella ORPHA:1069
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the ribs, Cataract, Iliac crest serration, Flaring of lower rib cage, Cuppe... ORPHA:168549
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Leishmaniasis
Skin ulcer, Pallor, Anorexia, Weight loss ORPHA:507
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
Hemoglobin D Disease
Pallor ORPHA:90039
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Microcephaly, Glutaric aciduria, Abnormal cerebral whi... OMIM:246450
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Metatarsus adductus,... ORPHA:2557
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphyseal ossific... ORPHA:785
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Spontaneous Periodic Hypothermia
Pallor, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Anorexia ORPHA:49827
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short iliac bones, Metaphyseal w... OMIM:614376
Breath-Holding Spells
Pallor OMIM:607578
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly... OMIM:309801
Non-Functioning Paraganglioma
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... ORPHA:94080
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Dravet Syndrome
Global brain atrophy, Obsessive-compulsive trait, Pallor, Impulsivity ORPHA:33069
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia ORPHA:363741
Kcnq2-Related Epileptic Encephalopathy
Abnormal globus pallidus morphology, Cerebral atrophy, Facial erythema, Abnormal cerebral white m... ORPHA:439218
Renal Cysts And Diabetes Syndrome
Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni... OMIM:137920
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Camptodactyly of finger, Rocker bottom foot, Developmental cataract, Mic... OMIM:610756
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Cataract, Hypogonadism, Short distal phalanx of finger OMIM:302950
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... OMIM:158330
Retinitis Pigmentosa 51
Pallor, Obesity OMIM:613464
Primary Myelofibrosis
Anorexia, Cachexia, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Secondary microcephaly, Cerebellar hypoplasia, Cerebral atrophy OMIM:613839
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cataract, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Pallor, Microcephaly OMIM:600462
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Increased body weight, Renal Fanconi syndrome, Agitation,... ORPHA:263455
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Pallor ORPHA:536516
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Bifid distal phalanx of the thumb, Elevated circulating luteinizing ho... OMIM:618419
Hereditary Mucoepithelial Dysplasia
Hematuria, Abnormal morphology of female internal genitalia, Cataract, Corneal dystrophy ORPHA:1839
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Pos... OMIM:615986
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Tapered finger, Cryptorchidism, Short fin... ORPHA:1867
Fanconi Anemia, Complementation Group D2
Anemic pallor, Small for gestational age, Ectopic kidney, Microcephaly, Cryptorchidism, Patent du... OMIM:227646
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Cataract, Missing ribs, Cryptorchidism, Abnormal rib morphology, Mi... ORPHA:3301
Proximal Myotonic Myopathy
Cataract ORPHA:606
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Hypogonadism OMIM:601794
Idiopathic Pulmonary Hemosiderosis
Pallor, Failure to thrive, Glomerulonephritis ORPHA:99931
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Agitation, Pallor, Dysphagia ORPHA:13
Rheumatic Fever
Anorexia, Erythema, Nephrotic syndrome, Pallor, Hemiballismus ORPHA:3099
Congenital Heart Block
Patent ductus arteriosus, Pallor ORPHA:60041
Hereditary Folate Malabsorption
Failure to thrive, Cerebral calcification, Pallor, Anorexia ORPHA:90045
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... ORPHA:99429
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Arachnodactyly, Lens subluxation, Microphakia ORPHA:171844
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Clinodactyly, Decreased response to growth hormone stimulation test, Sh... OMIM:615866
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Cryptorchidism, Postaxial... ORPHA:139471
Bardet-Biedl Syndrome 1
Decreased testicular size, Syndactyly, Cataract, Postaxial polydactyly, Postaxial hand polydactyl... OMIM:209900
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:276621
Microphthalmia, Syndromic 9
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, Bicornuate uterus, ... OMIM:601186
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Beta-Ketothiolase Deficiency
Ketonuria, Anorexia, Weight loss, Agitation, Pallor, Oral aversion ORPHA:134
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Warburg Micro Syndrome 2
Cataract, Overlapping toe, Small scrotum, Cryptorchidism, Developmental cataract, Microcornea, Hy... OMIM:614225
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Fanconi Anemia, Complementation Group E
Small for gestational age, Anemic pallor, Microcephaly, Ectopic kidney, Cryptorchidism, Prolonged... OMIM:600901
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Weight loss ORPHA:3226
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... ORPHA:3109
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proxim... OMIM:146255
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... OMIM:186500
Fanconi Anemia, Complementation Group A
Small for gestational age, Anemic pallor, Microcephaly, Ectopic kidney, Cryptorchidism, Prolonged... OMIM:227650
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Anorexia, Microcephaly, Leukoencephalopathy, Weight loss, 3-Methylglutaric aciduria, P... ORPHA:20
Senior-Loken Syndrome 8
Global glomerulosclerosis, Pallor, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616307
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Urethral atresia, Aplasia of the ... OMIM:271520
Nail-Patella Syndrome
Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Hypoplasia of first ribs, Iliac horns... OMIM:161200
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, Femoral bowing, Abnormal ovarian morphology, Vesicourete... ORPHA:95699
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Childhood Absence Epilepsy
Pallor, Punding, Urinary incontinence, Attention deficit hyperactivity disorder ORPHA:64280
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Abnormality o... OMIM:228300
Plummer-Vinson Syndrome
Pallor, Dysphagia, Geophagia ORPHA:54028
Aniridia 3
Aniridia, Cataract OMIM:617142
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hypoparathyroidism, Cataract OMIM:146200
Sepsis In Premature Infants
Small for gestational age, Oliguria, Pallor, Reversible renal failure, Decreased body weight, Pet... ORPHA:90051
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:29072
Hypoplasminogenemia
Nephrolithiasis, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Cold Agglutinin Disease
Abnormal urinary color, Pallor ORPHA:56425
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Pallor ORPHA:90037
Fanconi Anemia, Complementation Group C
Small for gestational age, Anemic pallor, Microcephaly, Ectopic kidney, Cryptorchidism, Prolonged... OMIM:227645
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Arachnodactyly, Hyp... OMIM:201750
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Pallor ORPHA:90036
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst OMIM:617100
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... OMIM:274000
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Proximal placement of thumb... OMIM:261540
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Corneal opacity, Cataract, Hy... ORPHA:709
Imerslund-Gräsbeck Syndrome
Failure to thrive, Proteinuria, Pallor, Weight loss ORPHA:35858
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Alternating Hemiplegia Of Childhood
Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal dysphagia, Pallor, Dysphagia, Failure... ORPHA:2131
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Pallor OMIM:615234
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... ORPHA:83628
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp... ORPHA:2237
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Anorexia, Erythema, Hypercalciuria, 3-Methylglutaric aciduria, Renal F... OMIM:557000
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Sclerocornea, Precocious puberty, 2-3 toe syndactyly, Microcornea, Ectopia... OMIM:615877
Irida Syndrome
Pallor ORPHA:209981
Degcags Syndrome
Hypospadias, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal renal medulla morphol... OMIM:619488
Chromosome 17Q12 Deletion Syndrome
Long toe, Multicystic kidney dysplasia, Unilateral renal agenesis, Long fingers, Cryptorchidism, ... OMIM:614527
Waldenström Macroglobulinemia
Renal insufficiency, Pallor, Anorexia, Purpura ORPHA:33226
Oeis Complex
11 pairs of ribs, Congenital hip dislocation, Hydroureter, Bifid uterus, Epispadias, Cryptorchidi... OMIM:258040
Histiocytoid Cardiomyopathy
Failure to thrive, Agenesis of corpus callosum, Pallor, Renal cyst ORPHA:137675
Dent Disease
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... ORPHA:1652
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Pallor ORPHA:90033
Acro-Renal-Ocular Syndrome
Microcornea, Triphalangeal thumb, Vesicoureteral reflux, Iris coloboma, Hypoplasia of the ulna, F... ORPHA:959
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Aplasia of the ulna, Cryptorchidism... ORPHA:2879
Myhre Syndrome
Abnormal penis morphology, Brachydactyly, Cataract, Hypospadias, External genital hypoplasia, Pre... ORPHA:2588
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short sternum, Short ribs, Hypoplastic il... OMIM:620076
American Trypanosomiasis
Pallor ORPHA:3386
Beta-Thalassemia Intermedia
Proximal tubulopathy, Pallor, Skin ulcer ORPHA:231222
Panhypophysitis
Polydipsia, Hyposthenuria, Pallor ORPHA:95513
Myelofibrosis
Pallor, Purpura OMIM:254450
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Spherophakia, Anterior syne... OMIM:601552
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Cryptorchidism, Microcornea, Micropenis OMIM:610125
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Pallor ORPHA:331206
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Pallor ORPHA:348
Dominant Beta-Thalassemia
Failure to thrive in infancy, Pallor, Skin ulcer ORPHA:231226
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Aplasia/Hypopla... OMIM:276820
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Retinitis Pigmentosa 75
Pallor OMIM:617023
Sheehan Syndrome
Hyposthenuria, Pallor, Dry skin, Obesity ORPHA:91355
Tay-Sachs Disease
Pallor OMIM:272800
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Renal salt wasting, Female external genitalia in ... ORPHA:168558
Esophageal Atresia
Small for gestational age, Failure to thrive in infancy, Pallor, Dysphagia, Oral aversion ORPHA:1199
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum... ORPHA:857
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Renal salt wasting, Female external genitalia in ... ORPHA:289548
Non-Functioning Pituitary Adenoma
Macroorchidism, Macroorchidism, postpubertal, Pallor ORPHA:91349
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Beta-Thalassemia Major
Failure to thrive in infancy, Pallor, Skin ulcer ORPHA:231214
Adenohypophysitis
Hyposthenuria, Pallor ORPHA:95512
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Weight loss ORPHA:98849
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... OMIM:619879
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Pallor ORPHA:300298
Pituitary Apoplexy
Abnormal caudate nucleus morphology, Pallor ORPHA:95613
Incontinentia Pigmenti
Erythema, Pallor, Microcephaly OMIM:308300
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Pyruvate Kinase Deficiency Of Red Cells
Pallor OMIM:266200
Letterer-Siwe Disease
Pallor OMIM:246400
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Pallor OMIM:194380
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brainstem, Cerebellar ... OMIM:253280
Diamond-Blackfan Anemia
Small for gestational age, Hypospadias, Microcephaly, Horseshoe kidney, Pallor ORPHA:124
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Pallor OMIM:300908
Diamond-Blackfan Anemia 1
Pallor, Failure to thrive, Renal hypoplasia, Microcephaly OMIM:105650
Meckel Syndrome
Ureteral duplication, Bowing of the long bones, Cataract, True hermaphroditism, Multicystic kidne... ORPHA:564
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Chronic irritative conjunctivitis, Absent nipple, 3-4 finger cutaneou... ORPHA:69085
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Urethral atresia, Hypoplas... OMIM:273395
Elliptocytosis 1
Pallor OMIM:611804
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Pallor, Dysphagia ORPHA:3260
Aregenerative Anemia
Pallor ORPHA:101096
Prolactinoma
Pallor ORPHA:2965
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyl... OMIM:107480
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Aplasia of the vag... ORPHA:457284
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelvis... ORPHA:93271
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Hypercalciuria, Neph... ORPHA:653
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypermobility of toe joints, High urinary gonadotropin level, Ectopic kidney, Short toe, Enlargem... ORPHA:99413
Turner Syndrome
Hypermobility of toe joints, High urinary gonadotropin level, Ectopic kidney, Short toe, Enlargem... ORPHA:881
Mosaic Monosomy X
Hypermobility of toe joints, High urinary gonadotropin level, Ectopic kidney, Short toe, Enlargem... ORPHA:99228
Monosomy X
Hypermobility of toe joints, High urinary gonadotropin level, Ectopic kidney, Short toe, Enlargem... ORPHA:99226
Craniorachischisis
Bifid sternum ORPHA:63260
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Aplasia of the uterus, ... OMIM:614083
Infection-Related Hemolytic Uremic Syndrome
Anuria, Oliguria, Pallor, Acute kidney injury, Nephrotic range proteinuria, Decreased urine output ORPHA:544482
Tsh-Secreting Pituitary Adenoma
Pallor, Weight loss ORPHA:91347
Exstrophy-Epispadias Complex
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis... ORPHA:322
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Premature pubarche, Hypogonadotropic hypogonadism, Abnormal external genitali... ORPHA:90794
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Unilater... ORPHA:1521
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Rieger anomaly, Pseudoepiphyses of the metacarpals, Hypospadias, ... OMIM:194190
Von Hippel-Lindau Disease
Multiple renal cysts, Pallor, Elevated urinary catecholamine level ORPHA:892
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Pallor, Macroscop... OMIM:233450
Autosomal Recessive Malignant Osteopetrosis
Pallor, Macrocephaly ORPHA:667
Coffin-Siris Syndrome 1
Hydroureter, Sandal gap, Hypospadias, Aplasia/Hypoplasia of the distal phalanges of the toes, Apl... OMIM:135900
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Cataract, Bifid uterus, Long fi... OMIM:256520
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, 2-3 toe syndactyly, Enlarged kidney, Ap... OMIM:618280
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... OMIM:236680
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cryptorc... ORPHA:649
Okamoto Syndrome
Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Hip dysplasia, Astigmatism, Poly... ORPHA:2729
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges ... OMIM:130050
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Redundant neck skin, Renal hypoplasia, Renal cyst, Ureteral agenesis, Hypoplasia of the brainstem... OMIM:236500
Pallister-Killian Syndrome
Congenital hip dislocation, Small scrotum, Renal cyst, Camptodactyly of 2nd-5th fingers, Short pa... OMIM:601803
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Uterine rupture ORPHA:60030
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Pallor ORPHA:99125
Vascular Ehlers-Danlos Syndrome
Keratoconus, Congenital hip dislocation, Hypospadias, Cryptorchidism, Abnormal pupil morphology, ... ORPHA:286

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 Cep55

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 Cep55.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cep55 regulation of PI3K/Akt signaling is required for neocortical development and ciliogenesis. PLoS genetics (October 2021) Cep55tm1a(EUCOMM)Hmgu PMC8577787
Loss of Coiled-Coil Protein Cep55 Impairs Neural Stem Cell Abscission and Results in p53-Dependent Apoptosis in Developing Cortex. The Journal of neuroscience : the official journal of the Society for Neuroscience (February 2021) Cep55em1(IMPC)Tcp 33622776

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cep55tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cep55em1(IMPC)Tcp Exon Deletion Mice, Tissue
Cep55tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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