Gene Summary

Name:
transmembrane protein 63b
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating bilirubin level Tmem63btm1b(EUCOMM)Wtsi HET   Early adult 1.18×10-05
limb grasping Tmem63btm1b(EUCOMM)Wtsi HET Early adult 1.36×10-05
abnormal cornea morphology Tmem63btm1b(EUCOMM)Wtsi HET Early adult 8.27×10-08
hyperactivity Tmem63btm1b(EUCOMM)Wtsi HET Early adult 3.78×10-07
short tibia Tmem63btm1b(EUCOMM)Wtsi HET Early adult 1.45×10-06
preweaning lethality, complete penetrance Tmem63btm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
placenta Ambiguous
skin 0.0%
tail 0.0%
tail somite group 0.0%

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E18.5

Embryo reconstruction

2 Images

Embryo LacZ

LacZ images section

1 Images

Embryo LacZ

LacZ images wholemount

1 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

Immunophenotyping

Panel B FCS file(s)

5 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
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, 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
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Schizophrenia 15
Hyperactivity OMIM:613950
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Conjunctival icterus ORPHA:3111
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Smith-Magenis syndrome
Hyperactivity, Brachydactyly, Self-mutilation, Motor stereotypy DECIPHER:8
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Hijazi-Reis Syndrome
Astigmatism, Hyperbilirubinemia, Motor stereotypy, Ankle clonus, Iris coloboma OMIM:301094
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
Fraxe Intellectual Disability
Agitation, Clinodactyly of the 5th finger, Hyperactivity, Recurrent hand flapping, Compulsive beh... ORPHA:100973
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Bilateral coxa valga, Tremor, Limb dystonia, Aggressive behavior OMIM:620270
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... ORPHA:3329
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract, Congenital bilateral hip dislocation, Talipes equinovarus ORPHA:85288
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Bruxism, Hip dislocation, Short foot, Talipes equinovarus, Small hand OMIM:300434
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Hyperprolinemia, Type I
Hyperactivity, Hyperprolinemia, Motor stereotypy, Aggressive behavior OMIM:239500
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Morm Syndrome
Hyperactivity, Cataract, Aggressive behavior ORPHA:75858
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Megalocornea, Mesomelia, Radial bowing, Opacificat... OMIM:164900
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperglutaminemia, Dystonia, Hyperprolinemia OMIM:616299
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior OMIM:605899
Phenylketonuria
Hyperactivity, Hyperphenylalaninemia, Compulsive behaviors, Cataract, Attention deficit hyperacti... OMIM:261600
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyperactivity dis... OMIM:619927
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Aggressive behavior OMIM:301107
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Hypertriglyceridemia, Dystonia OMIM:615924
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased HDL cholesterol concent... ORPHA:247598
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... ORPHA:79106
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Distal Xq28 Microduplication Syndrome
Impulsivity, Metatarsus adductus, Stereotypical body rocking, Neonatal hyperbilirubinemia, Attent... ORPHA:293939
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses OMIM:617519
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Idiopathic Congenital Hypothyroidism
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbi... ORPHA:95717
Slc35A2-Cdg
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Increased circulating thyrog... ORPHA:356961
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Intellectual Developmental Disorder, Autosomal Recessive 38
Sandal gap, Hyperactivity, Recurrent hand flapping, Blue irides, Self-mutilation, Aggressive beha... OMIM:615516
Hypermethioninemia Due To Adenosine Kinase Deficiency
Narrow foot, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, El... OMIM:614300
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Hyperactivity, Frequent temper tantrums, Impulsivity, Developmental cataract,... OMIM:620141
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Hypocalcemia, Short ribs, Short humerus, Short ... OMIM:607143
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar... ORPHA:1106
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the toes, Hyperopic... ORPHA:397973
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Infantile Sialic Acid Storage Disease
Abnormal foot morphology, Conjugated hyperbilirubinemia, Metaphyseal irregularity OMIM:269920
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Pes cavus, Neonatal hyperbilirubinemia OMIM:609727
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Talipes, Clinodacty... ORPHA:2557
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Hyperbilirubinemia, Clinodactyly of the 5th finger, Agg... OMIM:619075
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly of the 5th finger, Hyperactivity, Micrognathia, Neonatal hyperbilirubinemia, Attenti... ORPHA:73272
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Unconjugated hyperbilirubinemia, Dystonia, Hyperma... OMIM:613280
Usmani-Riazuddin Syndrome, Autosomal Dominant
Short finger, Clinodactyly of the 5th finger, Hyperactivity, 2-3 toe syndactyly, Compulsive behav... OMIM:619467
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia OMIM:601775
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior ORPHA:382
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror ima... OMIM:119800
Autosomal Dominant Spastic Paraplegia Type 29
Pes cavus, Hyperbilirubinemia ORPHA:101009
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Impulsivity, Coxa vara, Talipes equinovalgus, External tibial torsion, Paroxysmal ... OMIM:620445
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:766
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... OMIM:620076
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Lathosterolosis
2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Talipes equinovarus, Hyperbilirubinem... OMIM:607330
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Pyruvate Carboxylase Deficiency
Anorexia, Abnormal temper tantrums, Elevated plasma citrulline, Hypertaurinemia, Hyperglutamatemi... ORPHA:3008
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of l... OMIM:618718
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Shor... OMIM:620306
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Opisthotonus, Increased serum bile acid concentration OMIM:619685
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Tibial Hemimelia
Absent tibia OMIM:275220
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ... OMIM:600785
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Polyphagia OMIM:609734
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Sensorineural hearing impairment, Brain atrophy, Cerebellar atrophy, Abnormal a... OMIM:619260
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Abnormal cornea morpholo... ORPHA:65759
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Familial Thyroid Dyshormonogenesis
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Abnormal circula... ORPHA:95716
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormal foot morphology, Tapered toe, Elevated circulating creatinine concentration, Elevated ci... OMIM:608836
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Omodysplasia 1
Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Axillary pte... OMIM:258315
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F... OMIM:616300
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Linear Verrucous Nevus Syndrome
Talipes, Genu recurvatum, Short metacarpal, Abnormal cornea morphology, Hypophosphatemia, Catarac... ORPHA:2611
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Hyperactivity, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanc... OMIM:614613
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Hyperactivity, Short metacarpal, Stereotypical hand wringing, Short fourth ... OMIM:600430
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Peroxisome Biogenesis Disorder 13A (Zellweger)
Posterior embryotoxon, Micrognathia, Increased circulating very long-chain fatty acid concentrati... OMIM:614887
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Tremor, Increased serum bile acid concentration ORPHA:69665
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Abnormal serum bile acid concentration, Conjugated hyperbilirubinemia ORPHA:79303
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Dysphagia, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
2Q23.1 Microdeletion Syndrome
Clinodactyly of the 5th finger, Sandal gap, Hyperactivity, Polyphagia, Short palm, Motor stereoty... ORPHA:228402
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Hyperactivity, Resting tremor, Tremor, Aggressive behavior ORPHA:3077
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis, Hyperlysinemia, Hypoornithinemia OMIM:238700
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Metaphyseal dysplasia, Hypoalbuminemia ORPHA:1667
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Abnormal conju... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Abnormal conju... ORPHA:529799
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Glycogen Storage Disease Vii
Increased total bilirubin, Elevated circulating creatine kinase concentration, Hyperuricemia OMIM:232800
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic iron concentration, Increased circulating ferritin concentration, Conjugated hyp... OMIM:616860
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Hyperactivity, Autoamputation of digits, Corneal ... OMIM:256800
Hypophosphatemic Rickets, X-Linked Dominant
Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, Tibial bo... OMIM:307800
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Impulsivity, Head titubation, Bruxism, Aggressive behavior, Agitation, Tapered dis... OMIM:619475
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Transient hyperphenylalaninemia, Hyperactivity, Hyperphenylalaninemia, Tremor,... OMIM:612716
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Wilson Disease
Sunflower cataract, Decreased circulating ceruloplasmin concentration, Hypouricemia, Kayser-Fleis... OMIM:277900
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Abetalipoproteinemia
Pes cavus, Distal lower limb muscle weakness, Decreased HDL cholesterol concentration, Talipes eq... ORPHA:14
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Hyperactivity, Abnormal femoral head morphology, Short long bone, L... ORPHA:239
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Epiphyseal stippling, Athetosis, ... OMIM:614866
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia OMIM:617049
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Abnormal epiphysis morphology, Delayed proximal... ORPHA:90674
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Talipes calcaneovalgus, Conjugated hyperbilirubinemia, Hip dysplasia OMIM:613404
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... OMIM:263520
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Hip subluxation, Flared metaphysis, Hypocalcemia, Hyperbilirubinemia, Micrognathia OMIM:259720
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Short humerus, Hip... OMIM:210710
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Rocker bottom foot, Pes planus, Hypocalcemia, Hyperextensibility of the finger joints, 2-3 toe sy... ORPHA:163979
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
X-Linked Intellectual Disability, Nascimento Type
Pes cavus, Compulsive behaviors, Bilateral talipes equinovarus, Developmental cataract, Clubbing ... ORPHA:163956
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Hypothyroidism Due To Tsh Receptor Mutations
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Increased circul... ORPHA:90673
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hyperc... ORPHA:247585
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Micrognathia, Talipes calcaneovalgus, Conjugated hyperbilirubinemia, Hip dysplasia OMIM:208085
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Conjugated hyperbilirubinemia, Zonular cataract, Brachydactyly ORPHA:168577
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho... OMIM:228520
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Syndactyly OMIM:224120
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Pterygium, Tibial bowing... OMIM:211350
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials OMIM:193700
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
X-Linked Creatine Transporter Deficiency
Hyperactivity, Athetosis, Dystonia, Abnormal circulating creatine concentration, Self-mutilation ORPHA:52503
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy/Degeneration affecting the cerebrum, Orthostatic hypotension, Sensorineural hearing impai... ORPHA:99027
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia OMIM:613812
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:613673
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Dehydrated Hereditary Stomatocytosis
Abnormal blood potassium concentration, Increased circulating ferritin concentration, Increased t... ORPHA:3202
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Senior-Boichis Syndrome
Polydipsia, Agitation, Increased total bilirubin, Attention deficit hyperactivity disorder, Aggre... ORPHA:84081
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... ORPHA:958
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Corneal opacity, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hyp... OMIM:274000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment agang... OMIM:609136
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia... OMIM:603671
Fetal Cytomegalovirus Syndrome
Conjugated hyperbilirubinemia ORPHA:294
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor... ORPHA:198
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting OMIM:618314
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Hip... ORPHA:464321
Mirizzi Syndrome
Anorexia, Hyperbilirubinemia ORPHA:521219
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Ogden Syndrome
Clinodactyly of the 5th finger, Torticollis, Sandal gap, Hyperbilirubinemia, Congenital hip dislo... OMIM:300855
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Fumarase Deficiency
Hyperbilirubinemia, Conjunctival icterus OMIM:606812
Pearson Marrow-Pancreas Syndrome
Anorexia, Hyperbilirubinemia, Punctate keratitis OMIM:557000
Cranioectodermal Dysplasia 2
Polydactyly, Rhizomelia, Hyperbilirubinemia, Short ribs, Postaxial hand polydactyly, Micrognathia... OMIM:613610
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte... OMIM:164745
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration OMIM:611881
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Caroli Disease
Anorexia, Conjugated hyperbilirubinemia, Conjunctival icterus ORPHA:53035
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Abnormality of visual evoked potentials, Absent ... ORPHA:79330
Degcags Syndrome
Polydactyly, Genu valgum, Oral-pharyngeal dysphagia, Hyperbilirubinemia, Choking episodes, Microg... OMIM:619488
Neurooculorenal Syndrome
Short hallux, Iris atrophy, Micrognathia, Conjugated hyperbilirubinemia, Short 1st metacarpal, Ta... OMIM:620305
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnormality of ... ORPHA:90321
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... OMIM:600383
Caroli Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Conjunctival icterus ORPHA:480520
Cerebrotendinous Xanthomatosis
Optic atrophy, Global brain atrophy, Decreased nerve conduction velocity, Axonal degeneration, Ab... ORPHA:909
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi... OMIM:200980
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t... ORPHA:140
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Sickle Cell Anemia
Elevated circulating creatinine concentration, Finger dactylitis, Unconjugated hyperbilirubinemia ORPHA:232
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypercholesterolemia, Conjugated hyper... ORPHA:186
Cockayne Syndrome A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Sensorineural hearing impai... OMIM:216400
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Corneal ulceration... ORPHA:79277
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia OMIM:229600
Cockayne Syndrome B
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Sensorineural hearing impai... OMIM:133540
Hydrolethalus Syndrome 1
Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux, Micrognathi... OMIM:236680
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia, Micrognathia, Broad hallux, Clinodactyly, Iris coloboma OMIM:620186
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor ORPHA:99819
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia OMIM:218700
Liver Disease, Severe Congenital
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Micrognathia, H... OMIM:619991
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Unconjugated hyperbilirubinemia OMIM:618278
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis OMIM:613471
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... OMIM:304120
Juvenile Nephropathic Cystinosis
Polydipsia, Abnormal long bone morphology, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia,... ORPHA:411634
Biliary, Renal, Neurologic, And Skeletal Syndrome
Polydactyly, Hyperbilirubinemia, Broad thumb, Postaxial polydactyly, Broad first metatarsal, Synd... OMIM:619534
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Conjunctival icterus, Unconjugated hyperbilirubinemia, Increased blood... ORPHA:447
Charge Syndrome
Hypoplasia of the ulna, Hypocalcemia, Absent tibia, Hand monodactyly, Bilateral talipes equinovar... OMIM:214800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia, Conjunctivitis OMIM:620376
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Micrognathia, Mesomelia, Motor stereotyp... OMIM:619297
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Hypocalcemia, Broad toe, Triphalangea... OMIM:218330
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... ORPHA:99829
Orofaciodigital Syndrome Type 4
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A... ORPHA:2753
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Johanson-Blizzard Syndrome
Clinodactyly of the 5th finger, Conjunctival icterus, Hypocalcemia, Increased VLDL cholesterol co... 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

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