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Gene: Hcar1 MGI:2441671

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Gene Summary

Name:
hydrocarboxylic acid receptor 1
Synonyms:
Gpr81

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
abnormal kidney morphology Hcar1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal pelvic girdle bone morphology Hcar1em1(IMPC)Ccpcz HOM Early adult 5.15×10-08
abnormal tibia morphology Hcar1em1(IMPC)Ccpcz HOM Early adult 6.39×10-07
increased circulating alkaline phosphatase level Hcar1em1(IMPC)Ccpcz HOM Early adult 2.57×10-05
hyperactivity Hcar1em1(IMPC)Ccpcz HOM   Early adult 1.07×10-05
increased circulating creatinine level Hcar1em1(IMPC)Ccpcz HOM   Early adult 7.52×10-05
decreased effector memory T-helper cell number Hcar1em1(IMPC)Ccpcz HOM Early adult 4.74×10-06
vertebral transformation Hcar1em1(IMPC)Ccpcz HOM   Early adult 7.66×10-06
abnormal vertebral arch morphology Hcar1em1(IMPC)Ccpcz HOM   Early adult 7.28×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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XRay Images Skull Lateral Orientation

16 Images

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Human diseases caused by Hcar1 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 Hcar1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... ORPHA:2779
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... ORPHA:1802
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Flat distal femoral ... OMIM:609324
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Gait disturbance, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis ... ORPHA:2501
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of me... OMIM:250460
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Femoral bowing, Short long... ORPHA:174
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Scoliosis OMIM:616311
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Coxa valga, Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... OMIM:259270
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, Ovoid vertebral bodi... OMIM:609052
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Hypochondroplasia
Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Short long bone, Lum... OMIM:146000
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Abnormality of the vertebral column, Arthralgia of the hip, Abnormal inte... ORPHA:99642
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Epiphyseal Dysplasia, Multiple, 6
Irregular epiphyses, Small epiphyses, Flat distal femoral epiphysis, Arthralgia of the hip, Flat ... OMIM:614135
Hypochondroplasia
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Bowing of the long bones, Abn... ORPHA:429
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Pear-sh... OMIM:602111
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Metaphyseal... ORPHA:93356
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Antalgic gai... ORPHA:166011
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Multiple Metaphyseal Dysplasia
Gait disturbance, Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad dis... ORPHA:93430
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Coro... OMIM:256050
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Talipes equinovarus, Small hand, Kyphosis, Hyperactivity, Hip dislocation, Short foot, Scoliosis OMIM:300434
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies,... ORPHA:1837
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Short mid... ORPHA:93314
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Brachydactyly, Hip dysplasi... ORPHA:2370
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Hyperactivity, Talipes equinovarus, Kyphosis ORPHA:85288
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys... OMIM:608728
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta... OMIM:609616
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Abnormality of the vertebral column, Metaphyseal dysplasia, Short ilia... ORPHA:93316
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... ORPHA:239
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Weismann-Netter Syndrome
Fibular bowing, Horizontal sacrum, Lateral femoral bowing, Kyphosis, Anterior tibial bowing, Scol... OMIM:112350
Insulin-Like Growth Factor I Deficiency
Radial deviation of finger, Hyperactivity, Clinodactyly OMIM:608747
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... OMIM:102510
Thoracomelic Dysplasia
Gait disturbance, Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Genu va... ORPHA:1803
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Short iliac bones, Metaphyseal widening, ... OMIM:614376
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Wide distal femoral metaphysis, Hip dy... OMIM:619598
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Metaphyseal Acroscyphodysplasia
Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... OMIM:250215
Hip Dysplasia, Beukes Type
Abnormality of epiphysis morphology, Kyphosis, Abnormality of the epiphysis of the femoral head, ... ORPHA:2114
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Irregularity of vertebral bodies, Genu varum, Abnormal hip joint morph... ORPHA:1159
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short 4th metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Limb u... OMIM:118651
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metacarpal morphology, Abnormality of epiphysis morphology, Bowing of the long bones, Ab... ORPHA:2631
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Hyperactivity, Ataxia, Hyperglycinuria OMIM:239500
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Rhizomelic arm shortening... OMIM:223800
Multiple Epiphyseal Dysplasia Type 5
Abnormal acetabulum morphology, Gait disturbance, Genu varum, Delayed proximal femoral epiphyseal... ORPHA:93311
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Smith-Magenis syndrome
Hyperactivity, Brachydactyly DECIPHER:8
Osebold-Remondini Syndrome
Tarsal synostosis, Abnormality of the vertebral column, Broad finger, Broad toe, Fibular hypoplas... OMIM:112910
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Dystonia, Elevated circulating creatinine concentration, Dysuria, Hyperuri... ORPHA:79233
Coxopodopatellar Syndrome
Abnormality of epiphysis morphology, Abnormality of pelvic girdle bone morphology, Aplasia/Hypopl... ORPHA:1509
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossification, Platyspo... OMIM:602557
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Metaphyseal dappling, Metaphyseal irregularity, Platyspondyly, Genu valgum, Co... OMIM:184250
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormally shaped carpal bones, Acromesomelia, Cuboidal metacarpal, Hip disloc... ORPHA:968
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Renal tubular dysfunction, Tibial bowing, Fibular bowing, Bowing of the le... OMIM:307800
Atelosteogenesis, Type Iii
Cervical segmentation defect, Tibial bowing, Radial bowing, Horizontal sacrum, Talipes equinovaru... OMIM:108721
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Thickened cortex of long bones, Metatarsal diaphyseal endosteal scleros... OMIM:144750
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Glomerulonephritis, Non-... OMIM:607665
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Lytic defects of humeral ... OMIM:601376
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Microscop... ORPHA:567544
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Abnormal form o... ORPHA:83468
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Gait disturbance, Sacrococcygeal pilonidal abnormality, Hip dislocation, Slender long bone, Spina... ORPHA:2840
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Otospondylomegaepiphyseal Dysplasia
Tibial bowing, Fibular bowing, Coronal cleft vertebrae, Abnormal vertebral morphology, Abnormally... ORPHA:1427
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Avascular necrosis of the capital femoral epiphysis, Irregular iliac crest, Platys... OMIM:304950
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Dystonia, Gait disturbance, Elevated circulating creatine kinase concentration, Back pain, Abnorm... OMIM:167320
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612926
Preeclampsia
Elevated circulating creatinine concentration, Acute kidney injury, Chronic kidney disease, Throm... ORPHA:275555
Sillence Syndrome
Short middle phalanx of finger, Bulbous tips of toes, Camptodactyly, Flat acetabular roof, Large ... ORPHA:3168
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormality of the vertebral column, Abnormal pelvis bone morphology ORPHA:2206
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Acute kidney injury, Re... ORPHA:54057
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Nephronophthisis, Abnormality of the metaphysis, Short foo... ORPHA:474
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Anterior wedging of T12, Short phalanx of finger, Short lo... OMIM:300106
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Kyphoscoliosis, Pl... OMIM:184253
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Glycine Encephalopathy
Hyperactivity, Hyperglycinuria, Hyperglycinemia, Lethargy OMIM:605899
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Clinodactyly OMIM:300928
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Femoral-Facial Syndrome
Long penis, Talipes equinovarus, Abnormal sacrum morphology, Coxa vara, Polycystic kidney dysplas... ORPHA:1988
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Polyuria, Renal insufficiency, Stage 5 chronic kid... OMIM:619468
Hyperphosphatasia With Mental Retardation Syndrome 6
2-3 toe syndactyly, Elevated circulating creatine kinase concentration, Shortening of all distal ... OMIM:616809
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... ORPHA:329918
Langer Mesomelic Dysplasia
Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the ulna, Rudimenta... OMIM:249700
Osteogenesis Imperfecta, Type V
Biconcave vertebral bodies, Vertebral wedging, Platyspondyly, Abnormality of pelvic girdle bone m... OMIM:610967
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Short long bone,... ORPHA:93315
Pycnodysostosis
Spondylolysis, Osteolytic defects of the distal phalanges of the hand, Spondylolisthesis, Abnorma... OMIM:265800
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Bowing of the legs, Metaphyseal widening, Abnormality of epiphysis morphology, Abnorm... ORPHA:93352
Shox-Related Short Stature
Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Short neck, Scoliosis, Ulnar radi... ORPHA:314795
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Arachnodactyly, Sandal gap, Abnormality of pelvic girdle bone morpholog... ORPHA:2725
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Ulnar deviation of finger, Camptodactyly of finger, Abnormality of pelvic girdl... ORPHA:2928
Relapsing Fever
Leukocytosis, Leukopenia, Hematuria, Elevated circulating creatinine concentration, Anemia, Incre... ORPHA:91547
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Cartilage-Hair Hypoplasia
Macrocytic anemia, Hypoplasia of the odontoid process, Metaphyseal dysplasia, Impaired lymphocyte... OMIM:250250
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hypertriglyceridemia OMIM:615924
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Genu varum, Abnormal form of the vertebral bodies, Hypophosphatemia, Abnormalit... ORPHA:93160
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration OMIM:616733
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Spinal canal stenosis, Cone-shaped epiphysis, Short metatarsal, Hyperactivity, Short... OMIM:614613
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Chromosome 3Q29 Deletion Syndrome
Tapered finger, Long fingers, Hyperactivity, Clinodactyly of the 5th finger, Gait ataxia OMIM:609425
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Scoliosis, Talipes equinovarus, Tapered finger OMIM:617773
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Ck Syndrome
Long fingers, Kyphoscoliosis, Hyperactivity, Long toe, Lumbar hyperlordosis ORPHA:251383
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Usmani-Riazuddin Syndrome, Autosomal Dominant
2-3 toe syndactyly, Short finger, Hyperactivity, Thoracic kyphosis, Clinodactyly of the 5th finge... OMIM:619467
Ck Syndrome
Kyphosis, Abnormal digit morphology, Hyperactivity, Hyperlordosis, Scoliosis OMIM:300831
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Prominent calcaneus, Toe clinodactyly, Short fourth metatarsal, Short long bone, Carpal bone hypo... ORPHA:457395
Oncogenic Osteomalacia
Hyperphosphaturia, Gait disturbance, Tibial bowing, Abnormality of femur morphology, Abnormal ver... ORPHA:352540
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Kyphoscoliosis OMIM:615541
Mend Syndrome
2-3 toe syndactyly, Polydactyly, Long fingers, Kyphosis, Hyperactivity, Overlapping fingers, Over... OMIM:300960
Glutaric Acidemia Type 3
Ketonuria, Glutaric aciduria, Sacral dimple, Elevated circulating glutaric acid concentration, Ab... ORPHA:35706
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormality of femur morphology, Limb undergrowth, Abnormal form of the verteb... ORPHA:3429
Sheldon-Hall Syndrome
Tarsal synostosis, Adducted thumb, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, O... ORPHA:1147
Rhizomelic Chondrodysplasia Punctata, Type 2
Irregular vertebral endplates, Rhizomelia, Stippled calcification proximal humeral epiphyses, Sho... OMIM:222765
Coffin-Siris Syndrome 8
Hyperactivity, Scoliosis OMIM:618362
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis ORPHA:2768
Moebius Syndrome
Gait disturbance, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Aplasia/Hypoplasia... OMIM:157900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, Decreased glomerular filt... OMIM:174000
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Hydroxyprolinuria, Bowing of the long bones, Vertebral compression f... OMIM:602080
Fraxe Intellectual Disability
Hyperactivity, Clinodactyly of the 5th finger ORPHA:100973
Codas Syndrome
Coronal cleft vertebrae, Abnormality of epiphysis morphology, Abnormal form of the vertebral bodi... ORPHA:1458
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Tibial bowing, Platyspondyly, Cervical kyphosis, Femoral bowing, Absent ossification of capital f... OMIM:245160
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Tapered finger OMIM:616977
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormality of the vertebral column, Club-shaped distal femur, Metaphyseal widening, Erlenmeyer f... OMIM:123000
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulatin... OMIM:274150
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Anuria, Elevated circulating c... OMIM:235400
Hypophosphatemic Rickets, X-Linked Recessive
Femoral bowing, Tibial bowing, Fibular bowing, Nephrocalcinosis, Bowing of the legs, Proximal tub... OMIM:300554
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Hyperactivity, Ataxia, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... OMIM:600785
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chronic kidney disease, Elevated circul... OMIM:613095
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Cone-s... ORPHA:397973
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Abnormal form of the ve... ORPHA:1788
Osteopetrosis, Autosomal Dominant 1
Abnormality of the vertebral column, Abnormality of pelvic girdle bone morphology, Thickened cort... OMIM:607634
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Long fingers, Short neck, Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Dent Disease 1
Metaphyseal irregularity, Hypophosphatemia, Microscopic hematuria, Femoral bowing, Chronic kidney... OMIM:300009
Hyperlysinemia, Type I
Anemia, Hyperactivity, Hyperlysinemia OMIM:238700
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Hypouricemia, Decreased urinary urate, Decreased proportion of CD3-po... ORPHA:760
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Normocytic anemia, Nephrotic syndrome, Renovascular hypertension, Membranous neph... ORPHA:49041
Morm Syndrome
Hyperactivity, Micropenis ORPHA:75858
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia,... ORPHA:90060
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... ORPHA:2502
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Increased urinary disaccharide excretion OMIM:248510
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Proximal tu... ORPHA:411634
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Tarsal stippling, Elevated 8(9)-cholestenol, Polydactyly, Hemivertebrae, Postaxia... OMIM:302960
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... ORPHA:29073
Otopalatodigital Syndrome, Type Ii
Hypospadias, Nonossified fifth metatarsal, Short metatarsal, Broad hallux, Bulbous tips of toes, ... OMIM:304120
Alazami-Yuan Syndrome
Hyperactivity, Broad hallux OMIM:617126
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,... ORPHA:439232
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
2-3 toe syndactyly, Kyphoscoliosis, Hyperactivity, Lymphopenia, Scoliosis ORPHA:391307
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Increased level of hippuric acid in urine,... OMIM:261600
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Lower limb undergrowth, Bowing of the long bones, Splenomegaly, Abn... ORPHA:3035
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregul... OMIM:241530
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Beaking of vertebral bo... OMIM:231070
Gand Syndrome
Hyperactivity, Long fingers, Long toe OMIM:615074
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Hypophosphatemia, De... OMIM:600081
Myopathy With Extrapyramidal Signs
Dystonia, Leukocytosis, Elevated circulating creatine kinase concentration, Hypervalinemia, Extre... OMIM:615673
Rubinstein-Taybi Syndrome 2
Hyperactivity, Broad thumb, Syndactyly, Broad hallux OMIM:613684
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Uraciluria, Lethargy OMIM:274270
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Small hand, Sandal gap, Kyphosis, Hyperactivity, Micropenis, Short foot, Gait ataxia... OMIM:300354
Caudal Regression Sequence
Ureteral duplication, Abnormality of the ureter, Talipes equinovarus, Hypoplastic vertebral bodie... ORPHA:3027
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Hyperactivity, Attention deficit hyperactivity disorder, Scoliosis, Joint contracture o... ORPHA:352490
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Abnormality of the ver... OMIM:166600
Tibial Hemimelia
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial clu... ORPHA:93322
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Neutropenia, Abnormal form of the vertebral bodies, Abnormality of pelvic ... ORPHA:175
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephrotic syndrome, Decrea... ORPHA:85450
Campomelic Dysplasia
Hydronephrosis, Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Bowing of t... ORPHA:140
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Metaphyseal irregularity, Long fibula, Iliac crest serration, Short toe, Sho... OMIM:250220
Seckel Syndrome 1
Hypospadias, Ivory epiphyses, Dislocated radial head, Hypoplasia of proximal fibula, Sandal gap, ... OMIM:210600
Coxoauricular Syndrome
Abnormality of pelvic girdle bone morphology, Hip dislocation, Abnormality of femur morphology, M... ORPHA:1508
Clark-Baraitser Syndrome
Hyperactivity, Clinodactyly, Sandal gap OMIM:617752
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, Short humerus, Club-shaped proximal... OMIM:108720
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Platyspondyly, Fl... OMIM:211350
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Fibular bowing, Tibial bowing, Subperiosteal bone resorption, Bowing o... OMIM:264700
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Broad long bones, Limb undergrowth, Platyspondyly, Crumpled long bones, Abnormalit... OMIM:166210
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia, Transient hyperphenylalaninemia OMIM:612716
Stuve-Wiedemann Syndrome 1
Abnormal metaphyseal trabeculation, Broad ischia, Tibial bowing, Hypoplastic iliac body, Adducted... OMIM:601559
2Q23.1 Microdeletion Syndrome
Sandal gap, Hyperactivity, Ataxia, Hip dysplasia, Short palm, Clinodactyly of the 5th finger, Hyp... ORPHA:228402
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine, Hype... OMIM:271980
Camurati-Engelmann Disease
Abnormality of the vertebral column, Abnormality of the ulna, Metaphyseal dysplasia, Aplasia/Hypo... ORPHA:1328
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... OMIM:223900
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Scoliosis, Broad-based gait ORPHA:457260
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Elevated circulating creatinine concentration, Avascular necrosis of the capit... ORPHA:247691
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Hypoplasia of the odontoid process, Vertebral fusion, Capitate-hamate fusion, ... OMIM:272460
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Iron deficiency anemia, Small hand, Decreased serum crea... OMIM:618885
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Small hand, Sandal gap, Kyphosis, Down-sloping shoulders, Short foot, Hyperactivi... ORPHA:85293
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Abnormality of pelvic girdle bone morphology, Reduced red cell adenosine deami... OMIM:102700
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tapered finger, Small hand, Sandal gap, Hyperactivity, Short foot, Clinodactyly OMIM:618089
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Short middle phalanx of finger, Tibial bowing, Proximal femoral epiphysiolysis, Hypo... OMIM:210720
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Increased circulating myelocyte count, Elevated circulating creatine kinase conc... ORPHA:36234
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Short neck OMIM:613192
Mucopolysaccharidosis Type 7
Metatarsus adductus, Mucopolysacchariduria, Diaphyseal thickening, Epiphyseal stippling, Anterior... ORPHA:584
Smith-Magenis Syndrome
Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Short palm, Scoliosis, Brachydactyly OMIM:182290
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Hyperactivity, Hip dysplasia, Camptodactyly, Hemihypotrophy of lower limb ORPHA:412035
Harrod Syndrome
Hypospadias, Arachnodactyly, Kyphosis, Multicystic kidney dysplasia, Abnormality of pelvic girdle... ORPHA:2115
Oligomeganephronia
Bilateral renal hypoplasia, Abnormality of medullary pyramid morphology, Decreased glomerular fil... ORPHA:2260
Chromosome 10Q26 Deletion Syndrome
Toe syndactyly, Radial deviation of finger, Hyperactivity, Micropenis, Broad-based gait, Vesicour... OMIM:609625
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Tibial bowing, Kyphosis, Slender long bone, Protrusio acetabuli, Scol... OMIM:259420
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Irregular epiphyses, Small epiphyses, Irregular vertebral endplates, Metaphyseal irregularity, Lo... OMIM:610442
Coffin-Siris Syndrome 7
Hyperactivity, Clinodactyly, Brachydactyly OMIM:618027
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of pelvic girdle bone morphology, Slender long bone ORPHA:1506
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Hyperactivity, Renal potassium wasting, Polyuria, Renal magnesium wa... OMIM:618314
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Kyphosis, Hyperactivity, Inability to walk, Gait ataxia ORPHA:500180
Vitamin D-Dependent Rickets, Type 2A
Tibial bowing, Fibular bowing, Subperiosteal bone resorption, Bowing of the legs, Hypocalcemic se... OMIM:277440
19P13.12 Microdeletion Syndrome
Hypospadias, Hyperlipidemia, Sandal gap, Finger syndactyly, Hyperactivity, Toe clinodactyly, Kyph... ORPHA:254346
Grant Syndrome
Down-sloping shoulders, Tibial bowing OMIM:138930
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... OMIM:206920
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Kyphoscoliosis, Shuffling gait, Broad-based gait ORPHA:3077
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Proximal renal tubular acidosis, Postaxial polydactyly OMIM:615824
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Hydronephrosis, Abnormality of the ureter, Abnormal form of the verteb... ORPHA:1834
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:79126
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Schistocytosis, Hypo... ORPHA:90038
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output, Hyperbilirubinemia, Elevated circulating creatinine ... ORPHA:542323
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Leukopenia, Elevated circulating creatine kinase concentration, Neu... ORPHA:99826
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
19P13.3 Microduplication Syndrome
Long fingers, Kyphoscoliosis, Hip dislocation, Hip subluxation, Hip dysplasia, Hyperactivity, Cli... ORPHA:447980
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly OMIM:252900
Aredyld Syndrome
Abnormality of the ureter, Splenomegaly, Abnormality of pelvic girdle bone morphology, Scoliosis,... ORPHA:1133
Histidinemia
Hyperactivity, Histidinuria, Hyperhistidinemia ORPHA:2157
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Talipes equinovarus, Camptodactyly of finger, Narrow vertebral interpedicular distance, Short pha... OMIM:143095
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Sandal gap OMIM:615516
Atelosteogenesis Type Iii
Fibular aplasia, Club-shaped distal femur, Distal tapering femur, Coronal cleft vertebrae, Absent... ORPHA:56305
Cleidocranial Dysplasia
Short clavicles, Hypoplastic scapulae, Tapered finger, Abnormality of epiphysis morphology, Abnor... ORPHA:1452
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Hydronephrosis, Cutaneous finger syndactyly, Hypoalbuminemia, Talipes equinovar... OMIM:235510
Acrodysostosis With Multiple Hormone Resistance
Hypospadias, Spinal canal stenosis, Cone-shaped epiphysis, Short metatarsal, Hypoplastic vertebra... ORPHA:280651
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Spastic gait, Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5... ORPHA:3079
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the toes, Hemivertebrae, Aplasia/Hypoplasi... ORPHA:1112
Fragile X Syndrome
Hyperactivity, Scoliosis OMIM:300624
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen, Elevated ur... ORPHA:230
Osteogenesis Imperfecta
Abnormal form of the vertebral bodies, Enlarged vertebral pedicles, Protrusio acetabuli, Femoral ... ORPHA:666
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Chromosome 2Q37 Deletion Syndrome
Short metatarsal, Hyperactivity, Short metacarpal, Short toe, Short phalanx of finger OMIM:600430
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Hyperphosphaturia, Spinal canal stenosis, Genu varum, Tibial bowi... ORPHA:289176
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephrit... ORPHA:340
Cri-Du-Chat Syndrome
Hypospadias, Metatarsus adductus, Short metatarsal, Hyperactivity, Short metacarpal, Syndactyly, ... OMIM:123450
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Scoliosis, Broad-based gait OMIM:300958
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Kyphosis, Displacement of the urethral meatus, Multipl... ORPHA:3378
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Melnick-Needles Syndrome
Gait disturbance, Hydronephrosis, Tibial bowing, Short clavicles, Anterior concavity of thoracic ... OMIM:309350
Inverted Duplicated Chromosome 15 Syndrome
2-3 toe syndactyly, Talipes equinovarus, Hyperactivity, Unilateral renal agenesis, Clinodactyly o... ORPHA:3306
Microphthalmia With Limb Anomalies
Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, Short long bone, S... ORPHA:1106
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Platyspondyly, Kyphosis, Short metacarpal, Vertebral compression fr... OMIM:610915
Grant Syndrome
Abnormality of the glenoid fossa, Abnormality of pelvic girdle bone morphology, Bowing of the lon... ORPHA:2097
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Hypertriglyceridemia, Gait ataxia, Limb dystonia ORPHA:363400
Phocomelia, Schinzel Type
Fibular aplasia, Radial bowing, Hand oligodactyly, Hypoplasia of penis, Aplasia of the ulna, Bowi... ORPHA:2879
Stankiewicz-Isidor Syndrome
Hypospadias, Ureteral duplication, 2-3 toe syndactyly, Hyperactivity, Micropenis, Short thumb, Sa... OMIM:617516
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly OMIM:252920
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Generalized aminoaciduria, Tibial bowing, Subperiosteal bone resorption, Hypocalcemic... ORPHA:289157
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Atlantoaxial instability, Hip subluxation, ... OMIM:271665
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Hyperactivity, Unsteady gait, Scoliosis ORPHA:485350
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Elevated circulating creatinine concentration, Renal cyst, Nephrol... OMIM:137920
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Kyphoscoliosis, Splenomegaly, Hyperactivity, Heparan sulfate excre... OMIM:252930
Legius Syndrome
Dystonia, Polydactyly, Male urethral meatus stenosis, Nephrolithiasis, Clinodactyly of the 5th fi... ORPHA:137605
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Hyperactivity, Clinodactyly of the 5th finger, Attention deficit hyp... ORPHA:73272
Isolated Epispadias
Urinary incontinence, Vesicoureteral reflux, Abnormality of pelvic girdle bone morphology, Anteri... ORPHA:93928
Spastic Paraplegia 29, Autosomal Dominant
Urinary urgency, Urinary hesitancy, Neonatal hyperbilirubinemia, Hyperactivity, Urinary incontine... OMIM:609727
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, H... ORPHA:247585
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tapered finger, Hyperactivity, Ataxia, Clinodactyly of the 5th finger, Scoliosis OMIM:618430
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst, Overlapping toe OMIM:617478
Myhre Syndrome
2-3 toe syndactyly, Cone-shaped epiphysis, Vertebral fusion, Hypoplastic iliac wing, Short finger... OMIM:139210
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
16P12.1P12.3 Triplication Syndrome
Hallux valgus, 2-3 toe syndactyly, Tapered finger, Short 5th finger, Hyperactivity, Clinodactyly ... ORPHA:485405
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Prominent fingertip pads OMIM:300558
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Intellectual Disability, Birk-Barel Type
Hyperactivity, Sacral dimple, Congenital finger flexion contractures ORPHA:166108
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Mucopolysaccharidosis, Type Iiid
Ovoid thoracolumbar vertebrae, Splenomegaly, Hyperactivity, Short neck, Heparan sulfate excretion... OMIM:252940
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Yellow Fever
Leukocytosis, Anuria, Elevated circulating creatine kinase concentration, Elevated circulating cr... ORPHA:99829
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Micropenis OMIM:618504
Potocki-Lupski Syndrome
Hypocholesterolemia, Hyperactivity, Scoliosis OMIM:610883
Chondrodysplasia-Disorder Of Sex Development Syndrome
Broad long bones, Short metacarpal, Abnormality of pelvic girdle bone morphology, Short phalanx o... ORPHA:1422
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Syndactyly, Unsteady gait, Attention deficit hyperactivity disorder ORPHA:1942
Distal Trisomy 17Q
Hallux valgus, Rhizomelia, Arachnodactyly, Genu valgum, Hyperactivity, Accessory spleen, Hand pol... ORPHA:3379
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ataxia, Hyperactivity, Syndactyly, Camptodactyly, Short neck, Clinodactyly ORPHA:369891
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Abnormality of pelvic girdle bone... OMIM:600057
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Hallux valgus, Gait disturbance, Ataxia OMIM:614104
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Abnormal circulating creatine concentration, Hyperactivity, Ataxia ORPHA:52503
Sclerosteosis 1
Deviation of finger, Abnormality of pelvic girdle bone morphology, 2-3 finger syndactyly, Sclerot... OMIM:269500
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Clinodactyly, Acromesomelia, Hyperactivity, Sacral dimple, Short proximal phalanx of the ... ORPHA:261323
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Absent thumb OMIM:619239
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Absent glenoid fossa, Genu varum, Aplasia/Hypoplasia of the patella,... OMIM:224690
Koolen-De Vries Syndrome
Hydronephrosis, Vertebral fusion, Slender finger, Kyphosis, Hip dislocation, Hyperactivity, Hip d... OMIM:610443
Spastic Paraplegia 9A, Autosomal Dominant
Gait disturbance, Urinary urgency, Urinary incontinence, Abnormality of pelvic girdle bone morpho... OMIM:601162
Intellectual Disability-Strabismus Syndrome
Hypospadias, Gait disturbance, Congenital finger flexion contractures, Rocker bottom foot, Talipe... ORPHA:363528
Mend Syndrome
2-3 toe syndactyly, Elevated 8(9)-cholestenol, Long fingers, Elevated 8-dehydrocholesterol, Kypho... ORPHA:401973
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hypospadias, Long fingers, Broad distal phalanx of finger, Hyperactivity, Long toe ORPHA:363686
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Hallux valgus, Hydronephrosis, Toe syndactyly, Gait disturbance, Polydactyly, Pelvic... ORPHA:464306
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Talipes equinovarus, Large hands, Shuffling gait, Hyperactivity, Micropenis, Short foot, Short di... OMIM:300534
Argininemia
Oroticaciduria, Spastic gait, Diaminoaciduria, Hyperammonemia, Hyperactivity, Hyperargininemia OMIM:207800
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Postaxial polydactyly, Hyperactivity, Hip dysplasia, Broad hallux, Unilateral renal agenesis, Cli... ORPHA:457284
47,Xyy Syndrome
Hypospadias, Hyperactivity, Micropenis, Finger clinodactyly, Attention deficit hyperactivity diso... ORPHA:8
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Metatarsus adductus, Tibial bowing, Talipes equinovarus, Large hands, Bifid ... ORPHA:500095
Gapo Syndrome
Abnormality of the metaphysis, Abnormality of pelvic girdle bone morphology, Abnormal form of the... ORPHA:2067
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Schinzel-Giedion Midface Retraction Syndrome
Hypospadias, Hydronephrosis, Tibial bowing, Aplasia/Hypoplasia of the pubic bone, Talipes equinov... OMIM:269150
Hyperlysinemia
Argininuria, Hypoornithinemia, Dysmetria, Cystinuria, Hyperammonemia, Hyperactivity, Tip-toe gait... ORPHA:2203
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Ataxia, Hyperactivity, Broad-based gait, Scoliosis ORPHA:98794
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Penoscrotal transposition, Talipes equinovarus, Tapered finger, Hyperactivity, Short... OMIM:619148
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Femoral bowing, Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia ORPHA:85165
Glass Syndrome
Talipes equinovarus, Arachnodactyly, Hyperactivity, Broad-based gait, Camptodactyly OMIM:612313
Angelman Syndrome
Hyperactivity, Scoliosis, Progressive gait ataxia, Broad-based gait OMIM:105830
Bone Marrow Failure Syndrome 3
Metaphyseal dysplasia, Congenital hip dislocation, Hyperactivity, Acute myeloid leukemia, Pancyto... OMIM:617052
Smith-Lemli-Opitz Syndrome
Hypospadias, 2-3 toe syndactyly, Epiphyseal stippling, Elevated 7-dehydrocholesterol, Proximal pl... OMIM:270400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydronephrosis, Polydactyly, Postaxial polydactyly, Elevated circulating creatinine concentration... OMIM:619534
Ellis Van Creveld Syndrome
Hypospadias, Abnormality of the ureter, Capitate-hamate fusion, Acute leukemia, Synostosis of car... ORPHA:289
X-Linked Adrenoleukodystrophy
Gait disturbance, Urinary bladder sphincter dysfunction, Hyperactivity, Attention deficit hyperac... ORPHA:43
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Renal Fanconi syndrome, Tubulointerstitial nephritis, Aminoaciduria, Elevated... ORPHA:91500
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Abnormal circulating fatty-acid concentration, Hyperactivity, Inabil... ORPHA:139396
Distal Monosomy 12Q
Hydronephrosis, 2-3 toe syndactyly, Short middle phalanx of finger, Aplasia/Hypoplasia of the mid... ORPHA:96149
16P11.2P12.2 Microdeletion Syndrome
Toe syndactyly, Proximal placement of thumb, Hyperactivity, Short palm, Camptodactyly of finger ORPHA:261211
Mucopolysaccharidosis Type 3
Gait disturbance, Mucopolysacchariduria, Loss of ambulation, Avascular necrosis of the capital fe... ORPHA:581
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Attention deficit hyperactivity disorder, Scoliosis ORPHA:449291
7Q11.23 Microduplication Syndrome
Hypospadias, Hydronephrosis, Hemivertebrae, Dysmetria, Long fingers, Hyperactivity, Sacral dimple... ORPHA:96121
Dubowitz Syndrome
Hypospadias, Acute lymphoblastic leukemia, Hyperactivity, Sacral dimple, Syndactyly, Clinodactyly... OMIM:223370
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Broad thumb, Arachnodactyly OMIM:309520
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Micropenis, Gait ataxia, Microphallus OMIM:300486
Wiedemann-Steiner Syndrome
Dilatation of renal calices, Tapered finger, Rhizomelia, Hyperactivity, Sacral dimple, Clinodacty... ORPHA:319182
Joubert Syndrome 1
Renal cyst, Hyperactivity, Ataxia, Postaxial foot polydactyly, Postaxial hand polydactyly, Nephro... OMIM:213300
Monosomy 9Q22.3
Abnormality of the vertebral column, Polydactyly, Kyphosis, Hyperactivity, Short neck ORPHA:77301
Witteveen-Kolk Syndrome
Hypospadias, Toe syndactyly, Proximal placement of thumb, Arachnodactyly, Abnormality of finger, ... OMIM:613406
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Preaxial polydactyly ORPHA:163681
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Nijmegen Breakage Syndrome
B lymphocytopenia, Hydronephrosis, Hyperactivity, Thrombocytopenia, T lymphocytopenia, Autoimmune... OMIM:251260
Maternal Phenylketonuria
Bifid distal phalanx of the thumb, Hyperactivity, Bladder exstrophy, Clinodactyly, Brachydactyly ORPHA:2209
Hallermann-Streiff Syndrome
Metaphyseal widening, Hyperactivity, Slender long bone, Hyperlordosis, Scoliosis OMIM:234100
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Long fingers, Dislocated radial head, Congenital hip dislocation, Hyperactivity, Clinodactyly of ... OMIM:619512
Williams Syndrome
Hallux valgus, Gait imbalance, Abnormal form of the vertebral bodies, Abnormality of pelvic girdl... ORPHA:904
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypospadias, Tapered finger, Small hand, Hyperactivity, Micropenis, Short foot, Brachydactyly, Sc... OMIM:309590
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Coffin-Siris Syndrome
Hypospadias, Horseshoe kidney, Short 5th finger, Hyperactivity, Scoliosis, Clinodactyly ORPHA:1465
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Hypospadias, Renal hypoplasia, Talipes equinovarus, Tapered finger, Kyphoscoliosis, Slender finge... OMIM:309580
Rubinstein-Taybi Syndrome 1
Hypospadias, Polydactyly, Radial deviation of thumb terminal phalanx, Hypoplastic iliac wing, Bro... OMIM:180849
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypospadias, Dystonia, Abnormality of the curvature of the vertebral column, Talipes equinovarus,... OMIM:619475
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Acanthocytosis, Bradykinesia, Hyperactivity, Urinary incontinence, At... OMIM:234200
Early Infantile Epileptic Encephalopathy
Dystonia, Short finger, Broad finger, Broad phalanx of the toes, Hyperactivity, Micropenis, Episo... ORPHA:1934
Hereditary Sensory And Autonomic Neuropathy Type 4
Abscess, Anemia, Abnormal lumbar spine morphology, Tooth abscess, Hyperactivity, Chronic kidney d... ORPHA:642
Peters-Plus Syndrome
Hypospadias, Renal hypoplasia, Ureteral duplication, Hydronephrosis, Hemivertebrae, Short metatar... OMIM:261540
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hypospadias, Abnormality of the curvature of the vertebral column, Hydronephrosis, Polydactyly, A... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hypospadias, Abnormality of the curvature of the vertebral column, Hydronephrosis, Polydactyly, A... ORPHA:353277
Oculoectodermal Syndrome
Bladder exstrophy, Hyperactivity, Short neck OMIM:600268
8Q24.3 Microdeletion Syndrome
Bilateral renal hypoplasia, Short hallux, Rocker bottom foot, Pelvic kidney, Long fingers, Congen... ORPHA:508488
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Abnormality of the curvature of the vertebral column, Hydronephrosis, Avascular necr... ORPHA:353281
Mucopolysaccharidosis Type 2
Hyperactivity, Irregularity of vertebral bodies, Hip dysplasia, Splenomegaly ORPHA:580
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Talipes equinovarus, Slender long bone, Camptodactyly of finger, Abnormality ... OMIM:208150
Monosomy 22Q13.3
Hydronephrosis, Large hands, Recurrent pyelonephritis, Hyperactivity, Sacral dimple, Vesicoureter... ORPHA:48652
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Tetrasomy 9P
Horseshoe kidney, Hydronephrosis, Hypoplastic scapulae, Talipes equinovarus, Small toe, Small han... ORPHA:3310
Choreoacanthocytosis
Lingual dystonia, Loss of ambulation, Elevated circulating creatine kinase concentration, Oromand... ORPHA:2388
Saethre-Chotzen Syndrome
Absent first metatarsal, Toe syndactyly, Hallux valgus, Partial duplication of the distal phalanx... OMIM:101400
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819

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 Hcar1

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 Hcar1.

No publications found that use IMPC mice or data for Hcar1.

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MGI Allele Allele Type Produced
Hcar1em1(IMPC)Ccpcz Indel Mice
Hcar1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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