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HCH
MCID: HYP042
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Hypochondroplasia malady |
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10 genes, 1 tissue, 124 related diseases, 15 phenotypes, 42 articles, clinical trials, genetic tests.
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 17Genetics Home Reference, 15GeneReviews, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Hypochondroplasia is a form dwarfism that affects the conversion of cartilage into bone, particularly in the long bones of the arms and legs. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with this condtion usually have short arms and legs and broad, short hands and feet. Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs. Hypochondroplasia is caused by mutations in the FGFR3 gene and is inherited in an autosomal dominant fashion.30
MalaCards: Hypochondroplasia, also known as HCH, is related to thanatophoric dysplasia and short stature. An important gene associated with Hypochondroplasia is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are Development FGF-family signaling and JNK Pathway. The compounds SU4984 and pd 161570 have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, and related mouse phenotypes are mortality/aging and digestive/alimentary. Disease Ontology: An osteochondrodysplasia that has material basis in mutation in the fgfr3 gene which affects ossification of cartilage and results in short limb dwarfism.6 Genetics Home Reference: Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.17 Wikipedia: Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the...44 more... OMIM: 146000 GeneReviews summary for hypochondroplasia |
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Sources: 6Disease Ontology, 7diseasecard, 44Wikipedia, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 33OMIM, 32Novoseek See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 146000
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for hypochondroplasia Drug clinical trials:Search ClinicalTrials for hypochondroplasia Search NIH Clinical Center for hypochondroplasia Search CenterWatch for hypochondroplasia |
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to hypochondroplasia:22Temporal lobe
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to hypochondroplasia:25 (show all 15)
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Sources: 35PubMed See all sources |
Articles related to hypochondroplasia:(show all 42)
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Sources: 1BioGPS See all sources |
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Sources: 10EMD Millipore, 36QIAGEN, 38Reactome, 3Cell Signaling Technology, 20KEGG, 41Thomson Reuters See all sources |
Pathways related to hypochondroplasia according to GeneDecks:(show top 50) (show all 72)
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Sources: 9DrugBank, 42Tocris Bioscience, 32Novoseek , 18HMDB, 34PharmGKB See all sources |
Compounds related to hypochondroplasia according to GeneDecks:(show all 38)
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Sources: 12Gene Ontology See all sources |
Cellular components related to hypochondroplasia according to GeneDecks:
Biological processes related to hypochondroplasia according to GeneDecks:(show all 32)
Molecular functions related to hypochondroplasia according to GeneDecks:
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