MCID: CHN064
MIFTS: 37
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Chondrodysplasia-Pseudohermaphroditism Syndrome
Categories:
Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Chondrodysplasia-Pseudohermaphroditism Syndrome:
Characteristics:Orphanet epidemiological data:58
chondrodysplasia-disorder of sex development syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Anatomical: Eye diseases Reproductive diseases Bone diseases Endocrine diseases
ICD10:
33
Orphanet: 58
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Disease Ontology :
12
A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.
MalaCards based summary : Chondrodysplasia-Pseudohermaphroditism Syndrome, also known as chondrodysplasia-disorder of sex development syndrome, is related to 45,x/46,xy mixed gonadal dysgenesis and corticosterone methyloxidase type i deficiency. An important gene associated with Chondrodysplasia-Pseudohermaphroditism Syndrome is HHAT (Hedgehog Acyltransferase), and among its related pathways/superpathways are Endochondral Ossification and Hedgehog Signaling Pathway (WikiPathways). Affiliated tissues include bone, eye and brain, and related phenotypes are intellectual disability and macrotia
More information from OMIM:
600092
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Human phenotypes related to Chondrodysplasia-Pseudohermaphroditism Syndrome:58 31 (show all 28)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:600092MGI Mouse Phenotypes related to Chondrodysplasia-Pseudohermaphroditism Syndrome:45
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Cochrane evidence based reviews: nivelon nivelon mabille syndrome |
MalaCards organs/tissues related to Chondrodysplasia-Pseudohermaphroditism Syndrome:40
Bone,
Eye,
Brain
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Articles related to Chondrodysplasia-Pseudohermaphroditism Syndrome:
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Search
GEO
for disease gene expression data for Chondrodysplasia-Pseudohermaphroditism Syndrome.
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Biological processes related to Chondrodysplasia-Pseudohermaphroditism Syndrome according to GeneCards Suite gene sharing:(show all 25)
Molecular functions related to Chondrodysplasia-Pseudohermaphroditism Syndrome according to GeneCards Suite gene sharing:
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