Gene Summary

Name:
calpain 10
Synonyms:
Capn8

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal cholesterol homeostasis Capn10tm1b(EUCOMM)Wtsi HOM Early adult 7.20×10-07
hyperactivity Capn10tm1b(EUCOMM)Wtsi HOM Early adult 3.02×10-07
short tibia Capn10tm1b(EUCOMM)Wtsi HOM Early adult 1.22×10-09
increased circulating phosphate level Capn10tm1b(EUCOMM)Wtsi HOM   Early adult 4.48×10-05
increased circulating bilirubin level Capn10tm1b(EUCOMM)Wtsi HOM Early adult 3.13×10-05

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Viewing: all phenotypes

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

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Human diseases caused by Capn10 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 Capn10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Pseudohypoparathyroidism, Type Ib
Brachydactyly, Hypocalcemia, Hyperphosphatemia, Short metacarpal OMIM:603233
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Hypophosphatemia, Metaphyseal cupping, Hypocalcemia, Flared metaphysis, Genu ... OMIM:619073
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Hypophosphatemia, Renal, With Intracerebral Calcifications
Short distal phalanx of finger, Renal hypophosphatemia OMIM:241519
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Immunodeficiency 8
Hyperactivity OMIM:615401
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Pseudohypoparathyroidism, Type Ia
Short toe, Brachydactyly, Hypocalcemic tetany, Hyperphosphatemia, Short metatarsal, Short metacar... OMIM:103580
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Small hand, Micrognathia, Hyperphosphatemia, Short foot, Short palm, Hypocalcemic s... OMIM:241410
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Hypocalcemic tetany, Hyperphosphatemia, Short metatarsal, Short metacarpal OMIM:612462
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Achilles tendon calcification, Hyperphosphatemia, Hypercalcemia OMIM:617994
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... OMIM:307800
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Insulin-Like Growth Factor I Deficiency
Radial deviation of finger, Micrognathia, Hyperactivity, Clinodactyly OMIM:608747
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Hypophosphatemic Bone Disease
Bowing of the legs, Hypophosphatemia OMIM:146350
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Hypocalcemic tetany, Hyperphosphatemia, Cortical subperiostea... ORPHA:94089
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Abnormality of exocrine pancreas physiology OMIM:609812
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Short humerus, Lateral femoral bowing, Hyperphosphatemia, Hyperuricemia, Bowin... OMIM:239000
Smith-Magenis syndrome
Hyperactivity, Brachydactyly DECIPHER:8
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Hypoplas... OMIM:101800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... OMIM:600081
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Hypocalcemia, Brachydactyly, Short 3rd metacarpal, Short 5th metacarpal, ... ORPHA:79444
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Sanjad-Sakati Syndrome
Hypocalcemia, Small hand, Micrognathia, Hyperphosphatemia, Short foot ORPHA:2323
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... OMIM:607143
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:616278
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Talipes equinovarus, Small hand, Short foot, Hip dislocation OMIM:300434
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Narrow foot, Hyperbilirubinemia OMIM:614300
Acrodysostosis With Multiple Hormone Resistance
Short toe, Hypocalcemia, Hypoplastic vertebral bodies, Hyperactivity, Absent/hypoplastic paranasa... ORPHA:280651
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Abnormality of the medullary cavity of the long bones, Hyperphosphatemia, Transient... OMIM:127000
Pseudohypoparathyroidism Type 1A
Short fifth metatarsal, Hypocalcemia, Brachydactyly, Short 3rd metacarpal, Short 5th metacarpal, ... ORPHA:79443
Hypophosphatemic Rickets, X-Linked Recessive
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... OMIM:241530
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal o... ORPHA:95717
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... OMIM:264700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Unconjugated hyper... ORPHA:766
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Abnormality of the lower limb OMIM:193100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Genu recurvatum, Talipes, Short metacarpal, Toe syndactyly ORPHA:2611
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Pes cavus, Hyperactivity OMIM:609727
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly of the 5th finger, Hyperactivity, Micrognathia, Attention deficit hyperactivity diso... ORPHA:73272
Autosomal Dominant Spastic Paraplegia Type 29
Pes cavus, Hyperbilirubinemia ORPHA:101009
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... OMIM:277440
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Genu valgum OMIM:618913
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity OMIM:239500
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Clinodactyly OMIM:300928
Slc35A2-Cdg
Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, Aplasia/hypoplasia i... ORPHA:356961
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Conjugated hyperbilirubinemia, Abnormal foot morphology OMIM:269920
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... OMIM:251230
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia, Abnormal hip bone morphology ORPHA:457059
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Metaphyseal Chondrodysplasia, Jansen Type
Clinodactyly of the 5th finger, Hypophosphatemia, Metaphyseal cupping, Short ribs, Micrognathia, ... OMIM:156400
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Hypophosphatemia, Hypocalcemia ORPHA:89937
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea OMIM:235555
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Hypocalcemia, Abnormality of fi... ORPHA:352540
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hyperactivity OMIM:615924
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, H... ORPHA:93325
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Genu varum, Genu valgum, Abnormal m... ORPHA:93160
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Bachmann-Bupp Syndrome
Clinodactyly of the 5th finger, Attention deficit hyperactivity disorder, Hyperbilirubinemia OMIM:619075
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... ORPHA:158057
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity OMIM:605899
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Dent Disease 1
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... OMIM:300009
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirubinemia, Steato... ORPHA:79303
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-term... ORPHA:157215
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, ... ORPHA:289157
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal o... ORPHA:95716
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... OMIM:227270
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o... OMIM:208500
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron ORPHA:98870
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Clinodactyly, Metatarsus a... ORPHA:293939
Opsismodysplasia
Hypophosphatemia, Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Hypoplasti... OMIM:258480
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Tibial Hemimelia
Absent tibia OMIM:275220
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia OMIM:613280
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity, Hyperphenylalaninemia, Maternal hyperphe... OMIM:261600
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... ORPHA:1988
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevated hepatic iro... OMIM:616860
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia ORPHA:1667
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, Brachydactyly OMIM:617169
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... OMIM:119800
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Hyperactivity, Cone-shap... ORPHA:397973
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... OMIM:608571
Hydrocephalus With Associated Malformations
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth OMIM:236640
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
X-Linked Hypophosphatemia
Bowing of the legs, Hypophosphatemia, Trapezoidal distal femoral condyles, Flared iliac wing, Upp... ORPHA:89936
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Short foot, Lower limb undergrowth... ORPHA:314795
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Abnor... ORPHA:90674
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated c... OMIM:608836
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Rubinstein-Taybi Syndrome 2
Hyperactivity, Micrognathia, Syndactyly, Broad hallux, Broad thumb OMIM:613684
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Hyperactivity OMIM:618314
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... OMIM:171480
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Abnormality of the ankles, Abnormal femoral head morphology, Hypoplasia of th... ORPHA:239
Omodysplasia 1
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... OMIM:258315
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Small hand, Tapered finger, Pes planus, Sandal gap, Clinodactyly, Short foot OMIM:618089
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Talipes equinovarus, Elevated circula... OMIM:619743
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Talipes calcaneovalgus, Conjugated hyperbilirubinemia, Hip dysplasia OMIM:613404
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Toe clinodactyly, Hyperbilirubinemia, 2-3 toe syndactyly, Hyperextensibility of the... ORPHA:163979
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Coxa vara, Hypophosphatemia, Abnormal morphology of ulna, Increa... ORPHA:249
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity OMIM:612716
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:466650
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metatarsal, S... OMIM:614613
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal o... ORPHA:90673
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertaurinemia, Hyper... ORPHA:3008
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Hyperparathyroidism, Neonatal Severe
Calcinosis, Metaphyseal irregularity, Hypophosphatemia, Hypercalcemia OMIM:239200
Mend Syndrome
Overlapping toe, 2-3 toe syndactyly, Microretrognathia, Hyperactivity, Overlapping fingers, Polyd... OMIM:300960
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Talipes calcaneovalgus, Micrognathia, Conjugated hyperbilirubinemia, Hip dysplasia OMIM:208085
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hyperbilirubinemia OMIM:224120
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty... OMIM:617925
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Talipes equinovarus, Hyperbilirubinemia, Steat... ORPHA:14
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia OMIM:109270
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia, Bowing of the long bones ORPHA:2088
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Coxa vara, Hypophosphatemic rickets, Tibial bowing, Distal femoral bo... ORPHA:289176
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level OMIM:266200
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Micrognathia, Flared metaphysis, Hip subluxation OMIM:259720
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Chromosome 2Q37 Deletion Syndrome
Short toe, Hyperactivity, Short phalanx of finger, Short metatarsal, Short metacarpal OMIM:600430
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:613673
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Steatorrhea OMIM:613471
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Lathosterolosis
Talipes equinovarus, Hyperbilirubinemia, Micrognathia, Postaxial hand polydactyly, Abnormal circu... OMIM:607330
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... OMIM:108720
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing OMIM:113470
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... ORPHA:1788
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Glycogen Storage Disease Xii
Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Reduced haptoglobin level OMIM:611881
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Hypouricemia, Pedal edema, Hypoal... OMIM:277900
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal long bone morphology, Hypocalcemic tetany, ... ORPHA:411634
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... OMIM:601027
Dent Disease
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Renal hypophosphat... ORPHA:1652
Seckel Syndrome 1
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5... OMIM:210600
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Short ribs, Micrognathia, Brachydactyly, Polydactyly, Syndactyly, Postaxial h... OMIM:613610
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the lower limbs, Hyperbilirubinemia, Osteolysis involving bones of ... ORPHA:464321
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Pedal edema, Hypoalbuminemia, Hypercalcemia, Hyponatremia ORPHA:88673
Acro-Renal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... ORPHA:958
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia ORPHA:567983
Fructose Intolerance, Hereditary
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia OMIM:229600
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Raine Syndrome
Long hallux, Hypophosphatemia, Micrognathia, Micromelia, Brachydactyly, Bowing of the long bones OMIM:259775
Fibrochondrogenesis 1
Short palm, Clinodactyly of the 5th finger, Narrow greater sciatic notch, Short ribs, Small hand,... OMIM:228520
Mccune-Albright Syndrome
Abnormality of femur morphology, Primary hypercortisolism, Hypophosphatemia, Increased circulatin... ORPHA:562
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hypoproteinemia, Decreased HDL cholesterol c... ORPHA:247585
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... OMIM:211350
X-Linked Intellectual Disability, Nascimento Type
Overlapping toe, Bilateral talipes equinovarus, Pes cavus, Short foot, Clubbing of toes, Neonatal... ORPHA:163956
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Occipital Horn Syndrome
Coxa vara, Large iliac wing, Coxa valga, Aplasia/hypoplasia of the humerus, Abnormality of the pu... ORPHA:198
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... ORPHA:90038
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration ORPHA:186
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... ORPHA:2879
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia, Steatorrhea OMIM:557000
Ogden Syndrome
Clinodactyly of the 5th finger, Microretrognathia, Hyperbilirubinemia, Micrognathia, Congenital h... OMIM:300855
Boomerang Dysplasia
Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Brachydactyly ORPHA:168577
Senior-Boichis Syndrome
Increased total bilirubin, Attention deficit hyperactivity disorder ORPHA:84081
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Talipes equinovarus, Hyperbilirubinemia, Hyperactivity, Tapered distal phalanges of finger, Genu ... OMIM:619475
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Alport Syndrome 3, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Micrognathia, Genu valgum, Abnormal epiphysis morph... ORPHA:534
Degcags Syndrome
Talipes equinovarus, Hyperbilirubinemia, Micrognathia, Syndactyly, Polydactyly, Short thumb, Genu... OMIM:619488
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... ORPHA:3337
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Metaphyseal widening, De... OMIM:219800
Caroli Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:480520
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Xanthelasma ORPHA:30391
Acrorenal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary fibula, Rudimen... OMIM:200980
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Campomelic Dysplasia
Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Micrognathi... ORPHA:140
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Abnormal epiphysis morphology, Bowing of the long bones, Abnormal... ORPHA:667
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... ORPHA:79102
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin level OMIM:218700
Caroli Disease
Conjugated hyperbilirubinemia ORPHA:53035
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Steatorrhea, Hyperalaninemia ORPHA:699
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... ORPHA:3144
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... OMIM:619991
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia ORPHA:1827
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Broad first metatarsal, Hyperbilirubinemia, Knee di... OMIM:619534
Hydrolethalus Syndrome 1
Talipes equinovarus, Micrognathia, Proximal tibial hypoplasia, Upper limb undergrowth, Postaxial ... OMIM:236680
Hypophosphatemic Rickets
Abnormal lower limb bone morphology, Hypophosphatemia, Hypercalcemia, Bowing of the long bones ORPHA:437
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of the hand, Carpal... OMIM:276820
Campomelic Dysplasia
Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Anterior tibial... OMIM:114290
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:79277
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Short toe, Hypocalcemia, Short ribs, Short humerus, Brachydactyly... OMIM:218330
Multiple Endocrine Neoplasia Type 4
Elevated circulating growth hormone concentration, Extrahepatic cholestasis, Increased circulatin... ORPHA:276152
Argininemia
Hyperargininemia, Hyperactivity, Hyperammonemia OMIM:207800
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Camptodactyly Syndrome, Guadalajara, Type I
Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... OMIM:211910
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decrea... ORPHA:447
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Preaxial hand polydactyly, Camp... ORPHA:2753
Charge Syndrome
Absent tibia, Hypocalcemia, Bilateral talipes equinovarus, Absent radius, Micrognathia, Down-slop... OMIM:214800
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896

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 Capn10

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 Capn10.

No publications found that use IMPC mice or data for Capn10.

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MGI Allele Allele Type Produced
Capn10tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Capn10tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Capn10tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Capn10tm44789(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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