Details of Disease | DrugMAP

General Information of Disease (ID: DISO70KC)

Disease Name	Carney complex - trismus - pseudocamptodactyly syndrome
Synonyms	CARNEY complex variant; Carney complex variant
Definition	Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).
Disease Hierarchy	DISVL3IP: Carney complex DISLNBZJ: Heart-hand syndrome DISO70KC: Carney complex - trismus - pseudocamptodactyly syndrome
Disease Identifiers	MONDO ID MONDO_0012137 MESH ID C563845 UMLS CUI C1837245 OMIM ID 608837 MedGen ID 332400 Orphanet ID 319340

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH8	OT9F350W	Limited	Autosomal dominant	[1]
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References

1	Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder. Eur J Med Genet. 2017 Jun;60(6):312-316. doi: 10.1016/j.ejmg.2017.03.012. Epub 2017 Apr 2.