banner
Genes Phenotypes Help, News, Blog

Gene: Tmem63b MGI:2387609

Log in to follow

Gene Summary

Name:
transmembrane protein 63b
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
hyperactivity Tmem63btm1b(EUCOMM)Wtsi HET Early adult 3.78×10-07
limb grasping Tmem63btm1b(EUCOMM)Wtsi HET Early adult 1.36×10-05
increased circulating bilirubin level Tmem63btm1b(EUCOMM)Wtsi HET   Early adult 1.18×10-05
preweaning lethality, complete penetrance Tmem63btm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal cornea morphology Tmem63btm1b(EUCOMM)Wtsi HET Early adult 8.27×10-08
short tibia Tmem63btm1b(EUCOMM)Wtsi HET Early adult 1.45×10-06

Download data as:  TSV  XLS

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

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
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote 100% (1 of 1)
Ear N/A homozygote 100% (1 of 1)
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Footplate N/A homozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote 100% (1 of 1)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote 100% (1 of 1)
Liver N/A homozygote 100% (1 of 1)
Lung N/A heterozygote 100% (1 of 1)
Lung N/A homozygote 100% (1 of 1)
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote 100% (1 of 1)
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote 100% (1 of 1)
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote 100% (1 of 1)
Oral cavity N/A homozygote 100% (1 of 1)
Chorioallantoic placenta N/A heterozygote 100% (1 of 1)
Chorioallantoic placenta N/A homozygote 100% (1 of 1)
Skin N/A heterozygote 100% (1 of 1)
Skin N/A homozygote 100% (1 of 1)
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote 100% (1 of 1)
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote 100% (1 of 1)

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)
brain 1.1% (5 of 456)
ear 0.22% (1 of 461)
embryo 0.43% (2 of 462)
eye 0.22% (1 of 459)
footplate 0.22% (1 of 451)
forebrain 0.21% (1 of 472)
forelimb 0.22% (1 of 458)
handplate 0.23% (1 of 443)
head 1.11% (5 of 452)
heart 0.21% (1 of 472)
hindbrain 1.08% (5 of 464)
hindlimb 0.22% (1 of 462)
liver 0.23% (1 of 442)
lung 0.0%
mandibular process 0.22% (1 of 458)
maxillary process 0.21% (1 of 466)
midbrain 0.22% (1 of 454)
oral cavity 0.22% (1 of 463)
placenta 13.16% (5 of 38)
skin 0.22% (1 of 459)
tail 0.22% (1 of 454)
tail somite group 0.22% (1 of 453)

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

View images
Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

2 Images

View images
Embryo LacZ

LacZ images section

1 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Embryo LacZ

LacZ images wholemount

1 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

5 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

5 Images

View images

Human diseases caused by Tmem63b 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 Tmem63b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Abnormal auditory evoked potentials, Sensorineural hearing impair... OMIM:609129
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Acromesomelic Dysplasia 2C
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... OMIM:201250
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... OMIM:200700
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Limb undergrowth, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micromelia, Short long... OMIM:118651
Osebold-Remondini Syndrome
Type A brachydactyly, Hypoplasia of the radius, Short tibia, Broad toe, Mesomelia, Broad finger, ... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Micromelia, Aplasia/Hyp... ORPHA:2098
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing OMIM:246570
Schizophrenia 15
Hyperactivity OMIM:613950
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femoral neck, Hypoplasia o... OMIM:249700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication OMIM:188740
Acheiropody
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morphology, Short tib... OMIM:127300
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Fibular Hemimelia
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Lethal Faciocardiomelic Dysplasia
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... ORPHA:1972
Hyperlysinemia, Type I
Ectopia lentis, Hyperactivity, Hyperlysinemia OMIM:238700
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Diaphyseal thick... ORPHA:240
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Rotor Syndrome
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia ORPHA:3111
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Sensorineural hea... OMIM:616648
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... OMIM:605274
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... OMIM:607778
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Ring Dermoid Of Cornea
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... OMIM:180550
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypop... OMIM:612447
Endove Syndrome, Limb-Only Type
3-4 finger syndactyly, Triangular tibia, Disproportionate shortening of the tibia, Short middle p... OMIM:619217
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala... OMIM:135750
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Moderate hearing impairment, Conductive hearing impairment, Pro... ORPHA:87884
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
Orofaciodigital Syndrome Type 10
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... ORPHA:2756
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... ORPHA:2768
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... OMIM:612576
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked
Ankle clonus, Astigmatism, Iris coloboma, Hyperbilirubinemia OMIM:301094
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Congenital bilateral hip dislocation, Hyperactivity, Talipes equinovarus ORPHA:85288
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... ORPHA:93322
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Smith-Magenis syndrome
Hyperactivity, Brachydactyly DECIPHER:8
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Metaphyseal irregularity... ORPHA:93356
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... ORPHA:988
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Overlapping toe, Short tibia, Micrognathia, 11 pairs of ribs, Clinodactyly, Fibular... OMIM:201170
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand OMIM:228250
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal guttata, Corneal dystrophy, Corneal stromal edema, Corneal degen... OMIM:136800
Abcd Syndrome
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Aganglionic megacolon, Heari... OMIM:600501
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Aplasi... OMIM:119100
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Acromesomelic Dysplasia 2B
Deviation of finger, Absent toe, Rhizomelia, Short metatarsal, Short metacarpal, Patellar disloca... OMIM:228900
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy OMIM:617519
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Dystonia, Increased total bilirubin OMIM:616299
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... ORPHA:98964
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hip dislocation, Hyperactivity, Small hand, Talipes equinovarus, Short foot OMIM:300434
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Childhood onset sensorineural hear... OMIM:611572
Ophthalmomandibulomelic Dysplasia
Megalocornea, Coxa valga, Mesomelia, Opacification of the corneal stroma, Radial bowing, Fibular ... OMIM:164900
Orofaciodigital Syndrome Iv
Short finger, Hand polydactyly, Postaxial polydactyly, Short tibia, Toe syndactyly, Micrognathia,... OMIM:258860
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Glenoid fossa hypopla... ORPHA:85170
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... OMIM:601596
Stuve-Wiedemann Syndrome 1
Clubbing, Absent patellar reflexes, Contracture of the proximal interphalangeal joint of the 5th ... OMIM:601559
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hypertriglyceridemia, Hyperactivity, Dystonia OMIM:615924
Eiken Syndrome
Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Short toe, ... ORPHA:79106
Glycine Encephalopathy 1
Hyperglycinemia, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cataract, Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hype... ORPHA:247598
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Tremor, Choreoathetosis, Dystonia OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Biliary Atresia, Extrahepatic
Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Increased total bilirubin OMIM:210500
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... ORPHA:85188
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Fraxe Intellectual Disability
Hyperactivity, Agitation, Impulsivity, Clinodactyly of the 5th finger ORPHA:100973
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Bo... ORPHA:3344
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Polydactyly, Short tibia, Micromelia, Cone-shaped epiphysis, Brach... ORPHA:1505
Slc35A2-Cdg
Camptodactyly of finger, Abnormal long bone morphology, Short tibia, Coxa valga, Metatarsus adduc... ORPHA:356961
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Absent brainstem auditory responses, Abnormal cochlea morphology, Prelingua... ORPHA:52368
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
Acheiropodia
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... ORPHA:931
Intellectual Developmental Disorder, X-Linked 101
Clinodactyly, Hyperactivity OMIM:300928
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hyperactivity, Cone-shaped epiphyses of the ... ORPHA:397973
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Eleva... OMIM:614300
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal dystrophy, Corneal stromal edema, Abnormal Descemet membrane morphology,... OMIM:613270
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short ribs, Rhizomelia, Short tibia, Short femur, Hypocalcemia, Talipes equinovaru... OMIM:607143
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip dislocation, Short thumb, Proximal placement of thumb, Tibial deviation of toes, Short tibia,... OMIM:268305
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Microcornea, Pe... OMIM:610202
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Micrognathia, Clinodactyly, Neonatal hyp... ORPHA:73272
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee flexion contr... ORPHA:166016
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Micromelia, Humerora... OMIM:251230
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Abnormal epiphysis... ORPHA:95717
Mietens Syndrome
Cataract, Abnormality of fibula morphology, Hip dislocation, Hip dysplasia, Avascular necrosis of... ORPHA:2557
Spastic Paraplegia 29, Autosomal Dominant
Pes cavus, Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Microphthalmia With Limb Anomalies
Hip dislocation, Short tibia, Toe syndactyly, Broad thumb, Tibial bowing, Foot oligodactyly, Post... ORPHA:1106
Infantile Sialic Acid Storage Disease
Abnormal foot morphology, Metaphyseal irregularity, Conjugated hyperbilirubinemia OMIM:269920
Phenylketonuria
Blue irides, Cataract, Hyperphenylalaninemia, Hyperactivity, Maternal hyperphenylalaninemia, Atte... OMIM:261600
Laurin-Sandrow Syndrome
Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Aplasia/Hypoplasia of the thumb... ORPHA:2378
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydactyly, Toe sy... OMIM:609945
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Aplasia/Hypoplasia of the fibula, Brachydactyly, Fibular aplasia, Short phalanx of finger, Split ... OMIM:113310
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Tremor, Unconjugated hyperbilirubinemia, Increased total iron binding capacity... OMIM:613280
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Pes cavus ORPHA:101009
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... OMIM:217700
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Camptodactyly, Short tibia OMIM:258865
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Bilateral talipes equinovarus, Patellar hypoplasia, Preaxial foot polydactyly, Mirr... OMIM:119800
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:766
Atelosteogenesis Type Iii
Abnormality of the humerus, Hip dislocation, Absent radius, Short tibia, Patellar dislocation, Kn... ORPHA:56305
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Fibular hypoplasia, Hypoplasia... ORPHA:2634
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Attention deficit hyperactivity disorder, Clinodactyly of the 5th finger OMIM:619075
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hyperbilirubinemia ORPHA:713
Distal Xq28 Microduplication Syndrome
Attention deficit hyperactivity disorder, Metatarsus adductus, Clinodactyly, Neonatal hyperbiliru... ORPHA:293939
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Short ribs, Short tibia, Hypoplastic acetabulae, Ulnar b... OMIM:620076
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration, Opisthotonus OMIM:619685
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Morm Syndrome
Cataract, Hyperactivity ORPHA:75858
Limbal Stem Cell Deficiency
Corneal perforation, Blepharospasm, Opacification of the corneal epithelium, Corneal scarring, Co... ORPHA:171673
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Tibial Hemimelia
Absent tibia OMIM:275220
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Descemet Membrane Folds, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Acromesomelic Dysplasia 3
Short finger, Aplasia of the proximal phalanx of the 2nd finger, Bilateral talipes equinovarus, L... OMIM:609441
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Hyperbilirubinemia OMIM:609734
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Delayed epip... OMIM:600785
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Early ossification of capital femoral epiphyses, Short ribs, Foot polydactyly, ... OMIM:208500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hyperbilirubinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Abnormal epiphysis... ORPHA:95716
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Absent tibia, Preaxial polydactyly, Metaphyseal widening, Short ribs, Postaxia... OMIM:613091
Faciocardiomelic Dysplasia, Lethal
Short thumb, Hypoplasia of the radius, Talipes, Short 5th finger, Hypoplasia of the ulna, Microgn... OMIM:227270
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Sclerocornea, Corneal opacity, Flat cornea OMIM:217300
Carpenter Syndrome
Polydactyly, Finger syndactyly, Syndactyly, Preaxial foot polydactyly, Toe syndactyly, Broad thum... ORPHA:65759
Femoral-Facial Syndrome
Abnormality of fibula morphology, Hip dysplasia, Micrognathia, Preaxial foot polydactyly, Short f... ORPHA:1988
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Flattened epiphysis, Rhizomelia, Ulnar bowing, Coxa vara, Flared... OMIM:602111
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing i... OMIM:619260
Linear Verrucous Nevus Syndrome
Cataract, Hypophosphatemia, Iris coloboma, Short metacarpal, Genu recurvatum, Toe syndactyly, Tal... ORPHA:2611
Omodysplasia 1
Short humerus, Anterolateral radial head dislocation, Rhizomelia, Short tibia, Micrognathia, Axil... OMIM:258315
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Rhizomelia, Short tibia, Short... OMIM:616300
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hyperactivity, Short metatarsal, Advanced ossification of carpal bones, Short phalan... OMIM:614613
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Tapered toe, Hyperammonemia, Decreased plasma free carnitine, Knee flexion contracture,... OMIM:608836
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Peroxisome Biogenesis Disorder 13A (Zellweger)
Posterior embryotoxon, Increased circulating very long-chain fatty acid concentration, Conjugated... OMIM:614887
Generalized Eruptive Keratoacanthoma
Dysphagia, Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis ORPHA:411777
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Contracture of the proximal interphalangeal joint of the 5th finger, Attention def... OMIM:620141
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Dyggve-Melchior-Clausen Disease
Rhizomelia, Iliac crest serration, Limited knee extension, Abnormal femoral head morphology, Coxa... ORPHA:239
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Abnormal serum bile acid concentration, Conjugated hyperbilirubinemia ORPHA:79303
Autosomal Dominant Keratitis
Cataract, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal corneal limbus morpholog... ORPHA:2334
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Subepithelial corneal opacities, Abnormal corneal epithelium morpholog... ORPHA:98962
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Wilson Disease
Limb dystonia, Dystonia, Hand tremor, Hypouricemia, Increased circulating copper concentration, T... OMIM:277900
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor... ORPHA:293603
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Hypophosphatemia, Abnormal circulating calcium concentration, Hypop... OMIM:307800
Wolcott-Rallison Syndrome
Hyperammonemia, Hyperbilirubinemia, Metaphyseal dysplasia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short humerus, Asymmetric radial dysplasia, Absent radius, Genu varum, Phocomelia, Shoulder dislo... OMIM:171480
Intrahepatic Cholestasis Of Pregnancy
Tremor, Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc... OMIM:267700
Chronic Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Neonatal hyperbilirubinemia... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Neonatal hyperbilirubinemia... ORPHA:529799
Neurotrophic Keratopathy
Corneal perforation, Corneal ulceration, Recurrent corneal erosions, Astigmatism, Corneal scarrin... ORPHA:137596
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Absent radius, Genu varum, Phocomelia, Coxa valga, Finger syndactyly, Micrognath... ORPHA:3320
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Congenital Dyserythropoietic Anemia Type Iii
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum iron ORPHA:98870
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides, Sandal gap, Hyperactivity OMIM:615516
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic iron concentration, Increased circulating ferritin concentration, Conjugated hyp... OMIM:616860
Pyruvate Carboxylase Deficiency
Hyperglutamatemia, Hyperammonemia, Hyperalaninemia, Elevated plasma citrulline, Tremor, Increased... ORPHA:3008
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Lathosterolosis
Cataract, Postaxial foot polydactyly, Micrognathia, Hyperbilirubinemia, Toe syndactyly, Abnormal ... OMIM:607330
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Acromelic Frontonasal Dysostosis
Polydactyly, Preaxial polydactyly, Short tibia, Syndactyly, Patellar hypoplasia, Preaxial foot po... OMIM:603671
Corneal Dystrophy, Posterior Polymorphous, 3
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy OMIM:609141
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating alpha-fetoprotein concentration, Hyperammonemia, Conjugated hyperbilirubinemia OMIM:617049
Orofaciodigital Syndrome Type 2
Hand polydactyly, Y-shaped metacarpals, Limb undergrowth, Polysyndactyly of hallux, Short tibia, ... ORPHA:2751
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Microphthalmia With Limb Anomalies
Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met... OMIM:206920
Abetalipoproteinemia
Corneal ulceration, Distal lower limb muscle weakness, Pes cavus, Decreased LDL cholesterol conce... ORPHA:14
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Epiphyseal stippling, Interphalangeal joint contracture of finger, Contracture of th... ORPHA:96334
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... OMIM:619662
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Corneal neovascularization, Abnormal cornea morphology, Punctate... ORPHA:70476
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Short tibia, Short long bone, Fibular hy... OMIM:617925
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hip dysplasia, Talipes calcaneovalgus, Conjugated hyperbilirubinemia OMIM:613404
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Cataract, Camptodactyly, Elevated circulating phytanic acid concentration, Incr... OMIM:614866
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Short ribs, Postaxial polysyndactyly of foot, Disproportionate shorteni... OMIM:263520
Saul-Wilson Syndrome
Enlarged epiphyses, Hypoplasia of proximal fibula, Short distal phalanx of finger, Cataract, Shor... OMIM:618150
Isolated Thyroid-Stimulating Hormone Deficiency
Attention deficit hyperactivity disorder, Abnormal epiphysis morphology, Delayed proximal femoral... ORPHA:90674
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypoalbu... OMIM:617156
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Hyperbilirubinemia, Flared metaphysis, Hip subluxation, Hypocalcemia, Micrognathia OMIM:259720
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Rocker bottom foot, Hyperbilirubinemia, Short 5th finger, 2-3 toe syndactyly, Long toe, Bulbous t... ORPHA:163979
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip dislocation, Short thumb, Micromelia, Shoulder flexion contracture, Bowed humerus, Bifid firs... OMIM:210710
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... OMIM:227810
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Hip dysplasia, Talipes calcaneovalgus, Micrognathia OMIM:208085
Relapsing Fever
Increased total bilirubin, Elevated circulating C-reactive protein concentration, Elevated circul... ORPHA:91547
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Diffuse cerebral atrophy, Absent brainstem auditory responses ORPHA:3240
Eiken Syndrome
Broad metatarsal, Clinodactyly, Flattened epiphysis, Long thumb, Flat acetabular roof, Delayed os... OMIM:600002
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Fibrochondrogenesis 1
Camptodactyly, Megalocornea, Short ribs, Posterior vertebral hypoplasia, Rhizomelia, Hypoplastic ... OMIM:228520
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Syndactyly OMIM:224120
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Zonular cataract, Conjugated hyperbilirubinemia, Brachydactyly ORPHA:168577
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cataract, Torticollis, Iris coloboma, Isometric tremor, Agitation, Hyperactivity, Attention defic... OMIM:619475
Brittle Cornea Syndrome 1
Congenital hip dislocation, Palmoplantar cutis laxa, Keratoglobus, Decreased corneal thickness, K... OMIM:229200
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating ferritin ... OMIM:603553
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Abnormal pelvic girdle bone morphology, Microretrognathia, Radioulnar synostos... ORPHA:1788
Hypothyroidism Due To Tsh Receptor Mutations
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Increased circulat... ORPHA:90673
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Kyphomelic Dysplasia
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... OMIM:211350
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Hyperactivity, Recurrent corneal erosions, Corneal scarring, Opacification of... OMIM:256800
Atelosteogenesis, Type I
Clubbing, Rhizomelia, Short metatarsal, Knee dislocation, Fibular aplasia, Multinucleated giant c... OMIM:108720
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Opisthotonus ORPHA:95232
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level OMIM:266200
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Abnormal blood potassium concentration, Neonatal hy... ORPHA:3202
Citrullinemia Type Ii
Abnormal eating behavior, Hypoproteinemia, Hyperactivity, Restlessness, Acute hyperammonemia, Ele... ORPHA:247585
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment OMIM:193700
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy/Degeneration affecting the cerebrum, Atrophy of the spinal cord, Atrophy/Degeneration aff... ORPHA:99027
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia OMIM:613812
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:613673
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Cervical spinal cord atrophy, Decreased nerve conduction vel... ORPHA:101085
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia OMIM:617093
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Acro-Renal-Mandibular Syndrome
Hip dislocation, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypoplasia of... ORPHA:958
Infantile Krabbe Disease
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Hearing impairment, Prolonged brai... ORPHA:206436
Occipital Horn Syndrome
Down-sloping shoulders, Pes planus, Hip dislocation, Hip dysplasia, Abnormality of fibula morphol... ORPHA:198
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Short-segment aganglionic megacolon, Cerebral atrophy, Abse... OMIM:609136
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Patellar dislocation, Carpal synostosis, Fibular aplasia, Broad thu... OMIM:274000
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lower limbs, Hyp... ORPHA:464321
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
X-Linked Intellectual Disability, Nascimento Type
Bilateral talipes equinovarus, Overlapping toe, Pes cavus, Developmental cataract, Neonatal hyper... ORPHA:163956
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration OMIM:611881
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Senior-Boichis Syndrome
Polydipsia, Attention deficit hyperactivity disorder, Increased total bilirubin, Agitation ORPHA:84081
Cranioectodermal Dysplasia 2
Polydactyly, Short ribs, Rhizomelia, Syndactyly, Mesomelia, Hyperbilirubinemia, Postaxial hand po... OMIM:613610
Omodysplasia 2
Short humerus, Dislocated radial head, Broad femoral neck, Micrognathia, Fibular hypoplasia, Rhiz... OMIM:164745
Fumarase Deficiency
Hyperbilirubinemia, Conjunctival icterus OMIM:606812
Ogden Syndrome
Torticollis, Congenital hip dislocation, Long fingers, Dysphagia, Microretrognathia, Hyperbilirub... OMIM:300855
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Degcags Syndrome
Short thumb, Polydactyly, Syndactyly, Hemihypotrophy of lower limb, Hyperbilirubinemia, Toe synda... OMIM:619488
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Hepatocellular Carcinoma
Hypokalemia, Pedal edema, Hyperbilirubinemia, Hyponatremia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Phocomelia, Schinzel Type
Aplasia of the ulna, Foot oligodactyly, Aplasia/Hypoplasia of the sacrum, Aplasia/Hypoplasia invo... ORPHA:2879
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hearing impairment, Abnormality of peripheral nerve conducti... ORPHA:90321
Trisomy 10P
Low-set ears, Abnormality of the ear, Low voltage EEG, EEG with focal spikes, Posteriorly rotated... ORPHA:171929
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia OMIM:618314
Caroli Syndrome
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia ORPHA:480520
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia, Punctate keratitis OMIM:557000
Acrorenal-Mandibular Syndrome
Hand polydactyly, Hip dislocation, Missing ribs, Hypoplastic scapulae, Foot polydactyly, Microgna... OMIM:200980
Caroli Disease
Conjunctival icterus, Abnormal circulating alpha-fetoprotein concentration, Conjugated hyperbilir... ORPHA:53035
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses ORPHA:79330
Campomelic Dysplasia
Hip dislocation, Hypoplastic inferior ilia, Bowing of the long bones, Micrognathia, Short long bo... ORPHA:140
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Preaxial foot polydactyly ORPHA:1827
Cerebrotendinous Xanthomatosis
Global brain atrophy, Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduct... ORPHA:909
Schneckenbecken Dysplasia
Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Hypoplastic vertebral bodies, Dumbb... ORPHA:3144
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia ORPHA:567983
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Hyponatremia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Fructose Intolerance, Hereditary
Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hypophosphatemia OMIM:229600
Congenital Erythropoietic Porphyria
Keratoconjunctivitis, Reduced haptoglobin level, Corneal ulceration, Abnormal circulating porphyr... ORPHA:79277
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Blue irides, Hyperactivity, Short metatarsal, Short phalanx of finger, Hypoplastic vertebral bodi... ORPHA:280651
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Campomelic Dysplasia
Shortening of all phalanges of the toes, Hip dislocation, Shortening of all phalanges of fingers,... OMIM:114290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Congenital pseudoarthrosis of the clavicle, Aplasia/Hypoplasia of metatarsal bones, Hip dislocati... OMIM:276820
Hydrolethalus Syndrome 1
Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper limb undergrowth, Micrognathi... OMIM:236680
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Iris coloboma, Unconjugated hyperbilirubinemia, Broad hallux, Micrognathia, Clinodactyly OMIM:620186
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin level OMIM:218700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Dystonia OMIM:618278
Cockayne Syndrome A
Cerebral atrophy, Abnormal pinna morphology, Decreased nerve conduction velocity, Abnormal audito... OMIM:216400
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Hyperalani... OMIM:619991
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Cockayne Syndrome B
Cerebral atrophy, Abnormal pinna morphology, Decreased nerve conduction velocity, Abnormal audito... OMIM:133540
Otopalatodigital Syndrome, Type Ii
Short thumb, Short metatarsal, Rocker bottom foot, Toe syndactyly, Broad thumb, Short hallux, Rad... OMIM:304120
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor, Agitation ORPHA:99819
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis OMIM:613471
Biliary, Renal, Neurologic, And Skeletal Syndrome
Polydactyly, Postaxial polydactyly, Syndactyly, Conjugated hyperbilirubinemia, Hyperbilirubinemia... OMIM:619534
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor, Agitation ORPHA:424
Legius Syndrome
Cataract, Hyperactivity, Polydactyly, Attention deficit hyperactivity disorder, Lisch nodules, Di... ORPHA:137605
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Conjunctival icterus, Increased blood urea nitrogen, Dysphagia, Unconj... ORPHA:447
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Charge Syndrome
Cataract, Down-sloping shoulders, Hand polydactyly, Absent radius, Absent tibia, Bilateral talipe... OMIM:214800
Cranioectodermal Dysplasia 1
Short humerus, Broad distal phalanges of all fingers, Short distal phalanx of finger, Flattened e... OMIM:218330
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Elevated circulating crea... ORPHA:99829
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the mandible, Finger syndactyly, Micro... ORPHA:2753
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Johanson-Blizzard Syndrome
Conjunctival icterus, Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol con... OMIM:243800

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 Tmem63b

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 Tmem63b.

No publications found that use IMPC mice or data for Tmem63b.

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
Tmem63btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tmem63btm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Tmem63btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter