Human Phenotype Ontology 
Grandparent Node:
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Limb joint contracture (HP:0003121)help
Parent Node:
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Abnormality of the wrist (HP:0003019)help
Parent Node:
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Upper-limb joint contracture (HP:0100360)help
..Starting node
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Wrist flexion contracture (HP:0001239)help
Term ID: 1239
Name: Wrist flexion contracture
Synonym: Wrist contracture; Wrist flexion deformity
Definition: A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
Comments:
Reference: HP:0001239
Genes and Diseases:
 
       Child Nodes:
........expandBilateral wrist flexion contracture (HP:0012453) help
........expandUnilateral wrist flexion contracture (HP:0012454) help

 Sister Nodes: 
..expandElbow flexion contracture (HP:0002987) help
..expandJoint contracture of the hand (HP:0009473) help
..expandShoulder flexion contracture (HP:0003044) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001239HP:0001239Wrist flexion contracture0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0001239HP:0001239Wrist flexion contracture0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040283 - Occasional304
HP:0001239HP:0001239Wrist flexion contracture0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0001239HP:0001239Wrist flexion contracture0B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0001239HP:0001239Wrist flexion contracture0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0001239HP:0001239Wrist flexion contracture0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040283 - Occasional323
HP:0001239HP:0001239Wrist flexion contracture0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040282 - Frequent65
HP:0001239HP:0001239Wrist flexion contracture0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent3
HP:0001239HP:0001239Wrist flexion contracture0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040282 - Frequent442
HP:0001239HP:0001239Wrist flexion contracture0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040282 - Frequent478
HP:0001239HP:0001239Wrist flexion contracture0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040282 - Frequent702
HP:0001239HP:0001239Wrist flexion contracture0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0001239HP:0001239Wrist flexion contracture0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001239HP:0001239Wrist flexion contracture0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0001239HP:0001239Wrist flexion contracture0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 420
HP:0001239HP:0001239Wrist flexion contracture0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0001239HP:0001239Wrist flexion contracture0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0001239HP:0001239Wrist flexion contracture0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0001239HP:0001239Wrist flexion contracture0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040283 - Occasional92
HP:0001239HP:0001239Wrist flexion contracture0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0001239HP:0001239Wrist flexion contracture0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0001239HP:0001239Wrist flexion contracture0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent493
HP:0001239HP:0001239Wrist flexion contracture0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0001239HP:0001239Wrist flexion contracture0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0001239HP:0001239Wrist flexion contracture0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent11
HP:0001239HP:0001239Wrist flexion contracture0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0001239HP:0001239Wrist flexion contracture0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0001239HP:0001239Wrist flexion contracture0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0001239HP:0001239Wrist flexion contracture0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0001239HP:0001239Wrist flexion contracture0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001239HP:0001239Wrist flexion contracture0PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis11
HP:0001239HP:0001239Wrist flexion contracture0PRG4 CL E G H102169364OMIM:208250Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome.6
HP:0001239HP:0001239Wrist flexion contracture0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0001239HP:0001239Wrist flexion contracture0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0001239HP:0001239Wrist flexion contracture0TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0001239HP:0001239Wrist flexion contracture0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvementHP:0040283 - Occasional64
HP:0001239HP:0012453Bilateral wrist flexion contracture1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040283 - Occasional145
HP:0001239HP:0012453Bilateral wrist flexion contracture1ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040281 - Very frequent18
HP:0001239HP:0012454Unilateral wrist flexion contracture1PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis11


Genes (33) :ADAMTSL2 ANO5 ASXL1 B3GALT6 CADM3 CAPN3 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 DDR2 DHX16 DLK1 ERCC1 ERGIC1 ERLIN2 ESCO2 FBN2 FLNA HSPG2 MAP3K7 MECP2 MEG3 MMP2 MYH3 MYL11 PI4KA PRG4 RTL1 SCYL2 TBX15 TUBB3

Diseases (28) :OMIM:231050 ORPHA:206549 ORPHA:97297 OMIM:609465 OMIM:619519 ORPHA:267 ORPHA:610 ORPHA:1143 OMIM:618175 OMIM:618733 ORPHA:254528 OMIM:610758 ORPHA:209951 OMIM:268300 ORPHA:3103 OMIM:121050 OMIM:305620 ORPHA:1826 ORPHA:800 OMIM:255800 OMIM:300055 OMIM:259600 OMIM:193700 OMIM:619110 OMIM:616531 OMIM:208250 OMIM:260660 OMIM:600638
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.