Details of Disease | DrugMAP

General Information of Disease (ID: DIS3HYGD)

Disease Name	Chondrodysplasia-pseudohermaphroditism syndrome
Synonyms	chondrodysplasia-disorder of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; chondrodysplasia-pseudohermaphroditism syndrome
Definition	Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS78CGG: 46,XY disorder of sex development DIS3HYGD: Chondrodysplasia-pseudohermaphroditism syndrome
Disease Identifiers	MONDO ID MONDO_0010814 MESH ID C536123 UMLS CUI C1838654 OMIM ID 600092 MedGen ID 333149 Orphanet ID 1422 SNOMED CT ID 720851007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HHAT	TT1VNCG	Strong	Autosomal recessive	[1]
HHAT	TT1VNCG	Strong	GermlineCausalMutation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HHAT	OT3IXYII	Strong	Autosomal recessive	[1]
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References

1	Unique survival in chrondrodysplasia-hermaphrodism syndrome. Am J Med Genet A. 2005 Jan 30;132A(3):335-7. doi: 10.1002/ajmg.a.30417.
2	Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. PLoS Genet. 2014 May 1;10(5):e1004340. doi: 10.1371/journal.pgen.1004340. eCollection 2014 May.