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Gene: Tmem63b MGI:2387609

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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
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
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
preweaning lethality, complete penetrance Tmem63btm1b(EUCOMM)Wtsi HOM   Early adult 0.00
hyperactivity Tmem63btm1b(EUCOMM)Wtsi HET Early adult 3.98×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Lateral Orientation

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

2 Images

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Embryo LacZ

LacZ images wholemount

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Embryo LacZ

LacZ images section

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

5 Images

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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 auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Schizophrenia 15
Hyperactivity OMIM:613950
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Rotor Syndrome
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia ORPHA:3111
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Tremor ORPHA:79234
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... ORPHA:93323
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Smith-Magenis syndrome
Brachydactyly, Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... 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
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... 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
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, 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
Hyperbilirubinemia, Astigmatism, Ankle clonus, Motor stereotypy, Iris coloboma OMIM:301094
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dystonia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
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
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Bilateral coxa valga OMIM:620270
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h... ORPHA:3329
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, 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
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Talipes equinovarus, Congenital bilateral hip dislocation, Hyperactivity ORPHA:85288
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Small hand, Bruxism, Talipes equinovarus, Hyperactivity, Short foot, Hip dislocation 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
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Morm Syndrome
Aggressive behavior, Hyperactivity, Cataract ORPHA:75858
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Megalocornea, Fibular hypoplasia, Ulnar deviated ... OMIM:164900
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Dystonia, Increased total bilirubin, Hyperprolinemia OMIM:616299
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Glycine Encephalopathy 1
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Phenylketonuria
Cataract, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Materna... OMIM:261600
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... OMIM:619927
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia OMIM:301107
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Tremor, Hypertriglyceridemia OMIM:615924
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Cataract, Elevated circulating alpha-fetoprotein concentration, Hypermethioninem... ORPHA:247598
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Clinodactyly, Stereotypical body rocking, Aggressive behavior, Atten... ORPHA:293939
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal o... ORPHA:95717
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno... ORPHA:356961
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Intellectual Developmental Disorder, Autosomal Recessive 38
Sandal gap, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Blue ir... OMIM:615516
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit... OMIM:620141
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Hypocalcemia, Short humerus, Short ribs, Talipes equinovarus... OMIM:607143
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... ORPHA:1106
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the 3rd toe, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Hypera... ORPHA:397973
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Conjugated hyperbilirubinemia, Abnormal foot morphology OMIM:269920
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Pes cavus, Hyperactivity OMIM:609727
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Mietens Syndrome
Cataract, Microcornea, Avascular necrosis of the capital femoral epiphysis, Talipes, Coxa valga, ... ORPHA:2557
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Bachmann-Bupp Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperbilirubinemia, Clinodactyly o... OMIM:619075
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Clinodactyly, Micrognathia, Attention deficit hyperactivity disorder... ORPHA:73272
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Hypermanganesemia, Unconjugated hyperbilirubinemia... OMIM:613280
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Short finger, 2-3 toe syndactyly, Aggressive behavior, Pes planus, Hyper... OMIM:619467
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Dystonia, Athetosis ORPHA:382
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyl... OMIM:119800
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Pes cavus ORPHA:101009
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Talipes equinovalgus, Self-mutilation, Hyperactivity, External tibial torsion, Coxa vara, Paroxys... OMIM:620445
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Bent Bone Dysplasia Syndrome 2
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... OMIM:620076
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Lathosterolosis
2-3 toe cutaneous syndactyly, Cataract, Elevated circulating lathosterol concentration, Postaxial... OMIM:607330
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Recurrent hand flapping, Hyperammonemia, T... ORPHA:3008
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Paroxysmal bursts of l... OMIM:618718
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
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
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu... OMIM:600785
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ... OMIM:208500
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Hyperbilirubinemia OMIM:609734
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... OMIM:619260
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Carpenter Syndrome
Toe syndactyly, Abnormal cornea morphology, Finger syndactyly, Broad thumb, Preaxial foot polydac... ORPHA:65759
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Abnormal epiphysis... ORPHA:95716
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Tapered toe, Increased total bilirubin, Abnormal foot morphology, Elevated circulating ... OMIM:608836
Omodysplasia 1
Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,... OMIM:258315
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp... OMIM:616300
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Linear Verrucous Nevus Syndrome
Genu recurvatum, Cataract, Abnormal cornea morphology, Toe syndactyly, Talipes, Hypophosphatemia,... ORPHA:2611
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Hyperactivity, Blue irides, Brachydactyly, Short metatarsal, Advanced ossi... OMIM:614613
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Short toe, Type E brachydactyly, Stereotypical hand wringing, Skin-picki... OMIM:600430
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration OMIM:618892
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Posterior embryotoxon, Micrognath... OMIM:614887
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Tremor, Increased serum bile acid concentration ORPHA:69665
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy 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
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Dysphagia, Keratoconjunctivitis sicca ORPHA:411777
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Sandal gap, Polyphagia, Motor stereotypy, Hyperactivity, Hip dysplasia, ... ORPHA:228402
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Resting tremor, Tremor, Aggressive behavior, Hyperactivity, Anorexia ORPHA:3077
Hyperlysinemia, Type I
Hypoornithinemia, Hyperlysinemia, Ectopia lentis, Hyperactivity OMIM:238700
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Metaphyseal dysplasia ORPHA:1667
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal conjunctiva morpholo... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal conjunctiva morpholo... ORPHA:529808
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration 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
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, Increased circulating ferriti... OMIM:616860
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Autoamputation of digits, Corneal scarring, Self-mutilation, Recurrent corneal erosion... OMIM:256800
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia, Genu valgum, Talipes equinovarus, Torticollis, Tics, Iris coloboma, Motor ste... OMIM:619475
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... OMIM:307800
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Abnormal circulating biopterin concentration, Tremor, Abnormal circulating neo... OMIM:612716
Wilson Disease
Hypouricemia, Sunflower cataract, Hypoalbuminemia, Hand tremor, Kayser-Fleischer ring, Decreased ... OMIM:277900
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Metaphyseal dysplasia, Abn... ORPHA:239
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Athetosis, Elevated circulating phytanic acid concentration, Opacification of the corne... OMIM:614866
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small... ORPHA:96334
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda... OMIM:617925
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Abnormal circulating thyroglobulin co... ORPHA:90674
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Talipes calcaneovalgus, Conjugated hyperbilirubinemia, Hip dysplasia OMIM:613404
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs... OMIM:263520
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Saul-Wilson Syndrome
Cataract, Short distal phalanx of finger, Hypoplasia of the odontoid process, Pseudoepiphyses of ... OMIM:618150
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Flared metaphysis, Micrognathia, Hyperbilirubinemia, Hypocalcemia, Hip subluxation OMIM:259720
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hyperbilirubinemia, Hip contr... OMIM:210710
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Hyperbilirubinemia, Bulbous tips of toes, Hypocalcemia, 2-3 t... ORPHA:163979
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Clubbing of toes, Overlapping toe, Pes cavus, Aggressive behavior, D... ORPHA:163956
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal o... ORPHA:90673
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi... ORPHA:247585
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Talipes calcaneovalgus, Micrognathia, Conjugated hyperbilirubinemia, Hip dysplasia OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Conjugated hyperbilirubinemia, Brachydactyly, Zonular cataract ORPHA:168577
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Fibrochondrogenesis 1
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Megalocornea,... OMIM:228520
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Syndactyly OMIM:224120
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Orofaciodigital Syndrome X
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly OMIM:165590
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... OMIM:108720
Kyphomelic Dysplasia
Radial bowing, Micromelia, Flared metaphysis, Pterygium, Dumbbell-shaped humerus, Micrognathia, F... OMIM:211350
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level OMIM:266200
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment OMIM:193700
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Cervical spinal cord atrophy, Sensorineural hearing impairme... ORPHA:101085
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Abnormal circulating creatine concentration, Dystonia, Athetosis ORPHA:52503
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia OMIM:613812
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level OMIM:613673
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I... ORPHA:3202
Senior-Boichis Syndrome
Polydipsia, Increased total bilirubin, Aggressive behavior, Attention deficit hyperactivity disor... ORPHA:84081
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... ORPHA:958
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglio... OMIM:609136
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Fetal Cytomegalovirus Syndrome
Conjugated hyperbilirubinemia ORPHA:294
Occipital Horn Syndrome
Aplastic clavicle, Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysi... ORPHA:198
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the lower limbs, Hyperbilirubinemia, Osteolysis involving bones of ... ORPHA:464321
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Mirizzi Syndrome
Hyperbilirubinemia, Anorexia ORPHA:521219
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Ogden Syndrome
Congenital hip dislocation, Microretrognathia, Sandal gap, Broad hallux, Micrognathia, Hyperbilir... OMIM:300855
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Fumarase Deficiency
Hyperbilirubinemia, Conjunctival icterus OMIM:606812
Pearson Marrow-Pancreas Syndrome
Punctate keratitis, Hyperbilirubinemia, Anorexia OMIM:557000
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Micrognathia, Hyperbilirubinemia, Polydactyly, Short ribs, Brachydactyl... OMIM:613610
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,... 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
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Caroli Disease
Conjunctival icterus, Conjugated hyperbilirubinemia, Anorexia ORPHA:53035
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Degcags Syndrome
Toe syndactyly, Short thumb, Oral-pharyngeal dysphagia, Preaxial hand polydactyly, Hyperbilirubin... OMIM:619488
Neurooculorenal Syndrome
Short 1st metacarpal, Micrognathia, Iris atrophy, Talipes equinovarus, Short hallux, Conjugated h... OMIM:620305
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... ORPHA:90321
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... OMIM:600383
Caroli Syndrome
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia ORPHA:480520
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Abnormal motor evoked pot... ORPHA:909
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent tib... OMIM:200980
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Campomelic Dysplasia
Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ... ORPHA:140
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Finger dactylitis ORPHA:232
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... ORPHA:3144
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch... ORPHA:186
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Decreas... OMIM:216400
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Reduced haptoglobin level, Keratoconjunctivitis, Un... ORPHA:79277
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Cerebral atrophy, Decreased nerve conduction ... OMIM:133540
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication... OMIM:236680
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... 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
Broad hallux, Clinodactyly, Micrognathia, Unconjugated hyperbilirubinemia, Iris coloboma OMIM:620186
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Hand tremor ORPHA:99819
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration OMIM:218700
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Micrognathia, Hypocalcemia, Hyp... OMIM:619991
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Dystonia OMIM:618278
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis OMIM:613471
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Juvenile Nephropathic Cystinosis
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Polydipsia, Elevated circulating crea... ORPHA:411634
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Broad thumb, Increased circulating ferritin concentration, Knee dislocation, Ele... OMIM:619534
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Conjunctival icterus, Reduced haptoglobin level, Increa... ORPHA:447
Charge Syndrome
Cataract, Bifid femur, Short thumb, Hand monodactyly, Micrognathia, Hypocalcemia, Self-mutilation... OMIM:214800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia 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, Conjunctivitis, Conjugated hyperbilirubinemia OMIM:620376
Kinsship Syndrome
Bruxism, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Dislocated radial... OMIM:619297
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ... OMIM:218330
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... ORPHA:2753
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Johanson-Blizzard Syndrome
Conjunctival icterus, Hypocalcemia, Increased VLDL cholesterol concentration, Clinodactyly of the... 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.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Human and mouse essentiality screens as a resource for disease gene discovery. Nature communications (January 2020) Tmem63btm1b(EUCOMM)Wtsi PMC6994715

Order Mouse and ES Cells

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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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