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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 vertebral arch morphology Hcar1em1(IMPC)Ccpcz HOM   Early adult 8.38×10-05
abnormal pelvic girdle bone morphology Hcar1em1(IMPC)Ccpcz HOM Early adult 4.32×10-08
abnormal tibia morphology Hcar1em1(IMPC)Ccpcz HOM Early adult 5.86×10-07
vertebral transformation Hcar1em1(IMPC)Ccpcz HOM   Early adult 7.74×10-06
increased circulating alkaline phosphatase level Hcar1em1(IMPC)Ccpcz HOM Early adult 2.57×10-05
decreased effector memory T-helper cell number Hcar1em1(IMPC)Ccpcz HOM Early adult 4.74×10-06
hyperactivity Hcar1em1(IMPC)Ccpcz HOM   Early adult 1.03×10-05
increased circulating creatinine level Hcar1em1(IMPC)Ccpcz HOM   Early adult 9.82×10-05

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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 Hind Leg and Hip

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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XRay Images Skull Dorso Ventral 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
Hypobetalipoproteinemia, Familial, 2
Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:605019
Apolipoprotein C-Iii Deficiency
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Increased HDL cholesterol concentra... OMIM:614028
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hyperalphalipoproteinemia 1
Increased HDL cholesterol concentration OMIM:143470
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... OMIM:250460
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor... ORPHA:1802
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me... OMIM:609324
Intellectual Developmental Disorder, Autosomal Dominant 33
Scoliosis, Hyperactivity OMIM:616311
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger OMIM:259270
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Abnormal epiphysis morphology, Bowing of the long bones, Metaphyseal chondrodysplasia,... ORPHA:2501
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic hume... OMIM:609052
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Epiphyseal Dysplasia, Multiple, 6
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... OMIM:614135
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod... ORPHA:429
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Small hand, Kyphosis, Bruxism, Talipes equinovarus, Hyperactivity, Short foot, Scoliosis, Hip dis... OMIM:300434
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Flatten... ORPHA:93356
Smith-Magenis syndrome
Brachydactyly, Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Atelosteogenesis, Type Ii
Platyspondyly, Abnormal pelvic girdle bone morphology, Cervical kyphosis, Dumbbell-shaped femur, ... OMIM:256050
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metacarpa... ORPHA:2370
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho... ORPHA:1837
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Congenital bilateral hip dislocation, Kyphosis, Hyperactivity ORPHA:85288
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Scoliosis, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand... OMIM:609616
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... OMIM:239500
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bones, Scoliosis, Kyphos... OMIM:112350
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Short iliac bones, Acetabular spurs, Elevated circulating creatinin... OMIM:614376
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... OMIM:102510
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowin... OMIM:608728
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... ORPHA:1856
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femor... OMIM:619598
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Azoospermia, Decreased motor nerve conduction velocity, Hy... OMIM:613724
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Camptodactyly of finger, Abnormal hip bone morphology, Vertebral s... ORPHA:2631
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre... OMIM:184252
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Focal T2 hyperintense thalamic lesion OMIM:619057
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Sandal gap, Wi... OMIM:108721
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal ... OMIM:619468
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal epiphysis morphology, Aplasia/Hyp... ORPHA:1509
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Short finger, Lumbar hyperlordosis, 2-3 toe syndactyly, Aggressive behav... OMIM:619467
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... ORPHA:83468
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Mu... OMIM:223800
Acromesomelic Dysplasia, Hunter-Thompson Type
Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Short thumb, Brachydactyl... ORPHA:968
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Genu valgum, Short neck, Limb undergrowth, Hyperlordosis,... ORPHA:1803
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficiency, Proteinu... ORPHA:567544
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Kyphoscoliosis, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Sp... OMIM:307800
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Adenohypophysitis
Secondary growth hormone deficiency, Decreased male libido, Increased circulating prolactin conce... ORPHA:95512
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Platyspondyly, Dumbbell-shaped femur, Sandal... ORPHA:1427
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Panhypophysitis
Secondary growth hormone deficiency, Decreased male libido, Increased circulating prolactin conce... ORPHA:95513
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Optic disc pallor, Abnormality of pattern visual evoked potentials ORPHA:1947
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... OMIM:301110
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Aggressive behavior, Hallux valgus, Hyperactivity, Motor stereotypy OMIM:615541
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Vesicoureteral reflux, Self-mutilation, Hyperactivity, External tibial torsion, Coxa vara, Scolio... OMIM:620445
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Platyspondyly, Metaphyseal irregularity, Fibular overgrowth, Mic... OMIM:602557
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Optic disc pallor, Abnormality of visual evok... ORPHA:485421
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen OMIM:617872
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Cach Syndrome
Optic atrophy, T2 hypointense thalamus, Optic neuritis, Primary amenorrhea, Premature ovarian ins... ORPHA:135
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Hartnup Disorder
Attention deficit hyperactivity disorder, Elevated urinary indoleacetic acid level, Hyperactivity... OMIM:234500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... OMIM:144750
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Focal T2 hyperintense thalamic lesion ORPHA:254881
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Talipes equinovarus, Short neck, ... OMIM:608104
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Osteogenesis Imperfecta, Type V
Platyspondyly, Abnormal pelvic girdle bone morphology, Vertebral wedging, Anterior radial head di... OMIM:610967
Jeune Syndrome
Nephropathy, Abnormal pelvic girdle bone morphology, Postaxial foot polydactyly, Nephronophthisis... ORPHA:474
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Scoliosis, A... ORPHA:1988
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Fibular overgrowth... ORPHA:93352
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Hydronephrosis, Aggressive behavior, Attention deficit hyperactivity di... OMIM:620141
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Elevated circulating creatinine concentration, Uroli... OMIM:220150
Phenylketonuria
Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, El... OMIM:261600
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Rhizomelia, Dumbbell-shaped femur, Flared metaphy... OMIM:156550
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... ORPHA:93315
Relapsing Fever
Acute kidney injury, Increased total bilirubin, Elevated circulating creatinine concentration, Le... ORPHA:91547
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Lumbar hyperlordosis, ... OMIM:249700
Shox-Related Short Stature
Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, Short neck, Sh... ORPHA:314795
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Stage... ORPHA:329918
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
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Optic disc pallor, Pigmentary retinopathy, Retinal degener... ORPHA:79264
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidn... OMIM:266900
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Aggressive behavior, Decreased serum cre... OMIM:612736
Nephronophthisis 2
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:602088
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... ORPHA:2639
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Spinal canal stenosis, Hyperactivity, Brachydactyly, Short metatarsal, Adv... OMIM:614613
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation OMIM:616733
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Hyperlysinemia, Type I
Hypoornithinemia, Hyperlysinuria, Cystinuria, Hyperlysinemia, Hyperactivity, Anemia, Ornithinuria... OMIM:238700
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Abnormality of the uret... ORPHA:3027
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Kyphoscoliosis, 2-3 toe syndactyly, Aggressive behavior, Hyperactivity, Scoliosis, M... ORPHA:391307
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing ORPHA:2768
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:1788
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Abnormal pelvic girdle bone morphology, Back pain, Lumbar hyperlordosis, Elevated circulating cre... OMIM:167320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Increased total bilirubin, Elevated circulating creatinine concentration, Decreased ... OMIM:608836
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Sandal gap, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Hi... ORPHA:228402
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Elevated circulating creatinine concentrati... OMIM:174000
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder, Autosomal Recessive 13
Slender finger, Bruxism, Recurrent hand flapping, Short neck, Hyperactivity OMIM:613192
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Thoracic kyphosis, Hyperactivity, Hip dysplasia, Scoliosis, Motor stere... ORPHA:530983
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Rhizomelia, Metaphyseal cupping, Scoliosis, Flared metaphysis, Short finger, Femor... OMIM:608940
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Elevated circulating creatinine concentration, Unilateral... ORPHA:49041
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,... ORPHA:3429
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Hydroureter, Abnormal epiphys... ORPHA:1458
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Bulging epiphyses, Genu valgum, Fibular bowing, Femoral bowing, ... OMIM:600785
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Anemia, Hyperkalemia OMIM:620366
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, P... ORPHA:411634
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:613095
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Fragile X Syndrome
Recurrent hand flapping, Metacarpophalangeal joint hyperextensibility, Hyperactivity, Self-biting... OMIM:300624
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal... ORPHA:275555
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Thrombocytop... ORPHA:90060
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Abnormality of ... OMIM:123000
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Mesomelic leg shortening, Fibular aplasia, Fibular hypoplasia, Absent... OMIM:605274
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulating creatinine con... OMIM:274150
Cartilage-Hair Hypoplasia
Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Hypoplasia of the odontoid process, ... OMIM:250250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:235400
Aapoaiv Amyloidosis
Chronic kidney disease, Elevated circulating creatinine concentration, Hyperlipidemia, Proteinuri... ORPHA:439232
Congenital Disorder Of Glycosylation, Type Iit
Small hand, Hypotriglyceridemia, Sandal gap, Decreased serum creatinine, Iron deficiency anemia, ... OMIM:618885
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Decreased thalamic volume, Retinal detachment, Optic nerve hypoplasia ORPHA:370959
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Nephrolithiasis, Aggressive behavior, Attention ... OMIM:619827
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Delayed ... OMIM:300554
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... OMIM:123550
Oncogenic Osteomalacia
Renal phosphate wasting, Abnormal vertebral morphology, Abnormality of the tarsal bones, Abnormal... ORPHA:352540
Dihydropyrimidinase Deficiency
Elevated circulating thymine concentration, Elevated urinary thymine level, Elevated urinary dihy... OMIM:222748
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Nephrolithiasis, Aggressive behavior, Hyperactivity, Scoliosis OMIM:620023
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Cherry red spot of the macula ORPHA:309155
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Fibular bowing,... OMIM:300009
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal thalamus morphology ORPHA:435638
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal humeral epiph... OMIM:222765
Intellectual Developmental Disorder, Autosomal Recessive 38
Sandal gap, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity OMIM:615516
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn... ORPHA:3035
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Facial diplegia, Abnormal thalamic MRI signal intensity ORPHA:254930
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Genu valgum, Hematuria, Macroscopic hematuria, Abnorma... OMIM:248250
Progeria-Short Stature-Pigmented Nevi Syndrome
Premature ovarian insufficiency, Abnormal thalamus morphology, Hypergonadotropic hypogonadism ORPHA:2959
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... ORPHA:2928
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Vertebral compre... ORPHA:29073
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal thalamus morphology, Abnormal autonomic nervous system physiology, Optic nerve hypoplasia ORPHA:300570
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Neutropenia, Diaphyseal undertubulation, Metaph... ORPHA:175
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Arachnodactyly, Attention deficit hyperactivity disorder, Hyperactivity,... OMIM:617600
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short femoral neck, Flared metaphysis, Short palm, Aplasia/Hypoplasia of metatarsal bones, Long f... ORPHA:2502
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Abnormal thalamic MRI signal intensity... ORPHA:48818
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,... ORPHA:85450
Kyphomelic Dysplasia
Platyspondyly, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Femoral bow... OMIM:211350
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... OMIM:250220
Osteopetrosis, Autosomal Dominant 2
Abnormal pelvic girdle bone morphology, Fractures of the long bones, Abnormality of the vertebral... OMIM:166600
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Micromelia, Hip dislocation ORPHA:1508
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Hyperactivity, Polyuria, ... OMIM:618314
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Talipes equinovarus, Short neck, Aplasia/Hypoplasia of the ulna, ... OMIM:108720
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Abnormality of the verteb... OMIM:607634
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Delayed epiphyseal ossification, Bulging epiphy... OMIM:241530
Campomelic Dysplasia
Small abnormally formed scapulae, Kyphosis, Femoral bowing, Tibial bowing, Fibular hypoplasia, Hy... ORPHA:140
Oligomeganephronia
Unilateral renal agenesis, Polydipsia, Bilateral renal hypoplasia, Elevated circulating creatinin... ORPHA:2260
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, A... ORPHA:760
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process,... OMIM:272460
Rhombencephalosynapsis
Aganglionic megacolon, Fusion of the left and right thalami, Septo-optic dysplasia ORPHA:59315
Seckel Syndrome 1
Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Pancytopenia, Cone-shaped epiphyses o... OMIM:210600
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar... OMIM:614963
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Limb unde... OMIM:166210
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Elevated circulating creatini... ORPHA:730
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Normocytic anemia, Elevated circulating creatinine concentration, Avascular necrosis... ORPHA:247691
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal thalamus morphology, Focal T2 hyperintense th... ORPHA:79139
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Bulging epiphyses, Fibular bowing, Femoral bowing, Hypocalcemia,... OMIM:600081
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Short distal phalanx of finger, Hypoplastic scapulae, Cone-shaped epiphysis, Sho... OMIM:210720
Camurati-Engelmann Disease
Abnormal tibia morphology, Genu valgum, Metaphyseal dysplasia, Abnormal morphology of the radius,... ORPHA:1328
X-Linked Intellectual Disability, Cabezas Type
Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Aggressi... ORPHA:85293
13Q12.3 Microdeletion Syndrome
Self-mutilation, Kyphoscoliosis, Hyperactivity, Hip dysplasia, Camptodactyly, Hemihypotrophy of l... ORPHA:412035
Meningioma
Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pituitary hypothyroidism, Incre... ORPHA:2495
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Thalamic edema, Chorioretinal atrophy, Opti... ORPHA:2177
Osteogenesis Imperfecta, Type Iii
Slender long bone, Tibial bowing, Biconcave vertebral bodies, Scoliosis, Kyphosis, Protrusio acet... OMIM:259420
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Grant Syndrome
Tibial bowing, Down-sloping shoulders OMIM:138930
Harrod Syndrome
Abnormal pelvic girdle bone morphology, Multicystic kidney dysplasia, Abnormal shoulder morpholog... ORPHA:2115
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Renal insufficiency, Abscess, Hyp... ORPHA:36234
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Generalized aminoaciduria, Subperiosteal bone resorption, Bulgin... OMIM:264700
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone ORPHA:1506
Stuve-Wiedemann Syndrome 1
Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Short nec... OMIM:601559
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Abnormal vertebral morphology, Micr... OMIM:600383
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine, Splenomegaly, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, ... OMIM:252930
Geroderma Osteodysplasticum
Platyspondyly, Femoral bowing, Tibial bowing, Biconcave vertebral bodies, Kyphoscoliosis, Beaking... OMIM:231070
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormality of the... ORPHA:1834
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... ORPHA:340
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration, Acute kidney injury, Decreased... ORPHA:542323
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
46,Xy Sex Reversal 4
Hydronephrosis, Elevated circulating creatinine concentration, Ureteropelvic junction obstruction... OMIM:154230
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo... ORPHA:99826
Cleidocranial Dysplasia
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Abno... ORPHA:1452
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Short tibia, Finger synda... ORPHA:1106
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity ORPHA:157846
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Aredyld Syndrome
Abnormal pelvic girdle bone morphology, Abnormality of the ureter, Splenomegaly, Brachydactyly, S... ORPHA:1133
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Short tubular bones of the h... ORPHA:56305
Osteogenesis Imperfecta, Type X
Platyspondyly, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Tibial bowing, Nephrolithiasi... OMIM:613848
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Tay-Sachs Disease
Optic atrophy, Abnormal thalamic MRI signal intensity, Cherry red spot of the macula ORPHA:845
Acute Disseminated Encephalomyelitis
Optic neuritis, Abnormal thalamic MRI signal intensity ORPHA:83597
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi... ORPHA:247585
Leigh Syndrome
Optic atrophy, Abnormal optic nerve morphology, Abnormal thalamic MRI signal intensity ORPHA:506
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity ORPHA:529799
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Kyphosis, Slender long bone, Radial bowing, Femoral bowing, Tibial bowing, Femoral... OMIM:610915
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u... ORPHA:230
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Renal hypophosphatemia, Distal femoral bowing, Hypophosphatemic rickets,... ORPHA:289176
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Optic disc hypoplasia OMIM:619306
Osteogenesis Imperfecta
Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Bowing of the long bones, Di... ORPHA:666
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular distance, Talipes eq... OMIM:143095
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Overlapping toe, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Urinary hesitancy, Hyperactivity, Nocturia, Urinary incontinence, Ur... OMIM:609727
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Abnormal pelvic girdle bone morphology, Growth arrest lines, Lymphopenia, Autoimmu... OMIM:102700
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Thalamic hemorrhage ORPHA:464321
Isolated Epispadias
Abnormal pelvic girdle bone morphology, Vesicoureteral reflux, Anteriorly displaced urethral meat... ORPHA:93928
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... OMIM:137920
Craniopharyngioma
Optic atrophy, Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Abno... ORPHA:54595
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla... ORPHA:449395
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Ureteral stenosis, Flared metaphysis, Cone-... OMIM:309350
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Cuboid-sh... ORPHA:3079
Pauci-Immune Glomerulonephritis
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... ORPHA:93126
Myhre Syndrome
Platyspondyly, Cone-shaped epiphysis, Short toe, Clinodactyly, Short finger, Radial deviation of ... OMIM:139210
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs OMIM:114000
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Yellow Fever
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, L... ORPHA:99829
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog... ORPHA:1422
Mend Syndrome
Broad hallux, Overlapping toe, Overlapping fingers, Elevated 8(9)-cholestenol, 2-3 toe syndactyly... ORPHA:401973
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Abnormal pelvic girdle bone morphology, Hydroureter, Horseshoe kidney,... OMIM:600057
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Nephrolithiasis, Polydactyly, Attention ... ORPHA:137605
Argininemia
Oroticaciduria, Hyperammonemia, Hyperargininemia, Hyperactivity, Anorexia, Diaminoaciduria, Reduc... OMIM:207800
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous... ORPHA:79138
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Meier-Gorlin Syndrome 1
Abnormal pelvic girdle bone morphology, Flat glenoid fossa, Small hand, Slender long bone, Cutane... OMIM:224690
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal femoral torsion, Tibial torsion, Bifid ureter, Long hallux... ORPHA:500095
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Normocytic anemia, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating ... ORPHA:91500
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Femoral bowing, Fibular bowing, Tibial bowing ORPHA:85165
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Abnormality of pattern visual evoked potentials, Orthostatic hypotension, R... ORPHA:2822
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Ocular albinism ORPHA:2720
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Tibial bowing, Kyphoscoliosis, Severe platyspondyly, M... OMIM:259770
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Broad hallux, Postaxial polydactyly, Hyperactivity, Hip dysplasia, Cli... ORPHA:457284
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Acute leukemia, Abnormal pelvic girdle bone morphology, Hydrouret... ORPHA:289
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentration, Aggre... OMIM:612716
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami OMIM:610828
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Broad thumb, Increased circulating ferritin concentration, Elevated circulating ... OMIM:619534
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Congenital stationary night blindness, Abnormal pituitary gland... ORPHA:314621
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion OMIM:618929
Norrie Disease
Optic atrophy, Abnormal vitreous humor morphology, Abnormal retinal vascular morphology, Retinal ... ORPHA:649
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Facial palsy ORPHA:68
Williams Syndrome
Retinal arteriolar tortuosity, Hypogonadotropic hypogonadism, Abnormality of the diencephalon, Pa... ORPHA:904

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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