Details of Disease | DrugMAP

General Information of Disease (ID: DISIYKUH)

Disease Name	Chromosome 5q12 deletion syndrome
Synonyms	PDE4D haploinsufficiency syndrome; chromosome 5q12 deletion syndrome
Definition	PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.
Disease Hierarchy	DIS1DD8C: Syndrome caused by partial chromosomal deletion DISJLKZG: Partial deletion of the long arm of chromosome 5 DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISIYKUH: Chromosome 5q12 deletion syndrome
Disease Identifiers	MONDO ID MONDO_0014298 UMLS CUI C3810282 OMIM ID 615668 MedGen ID 816612 Orphanet ID 439822

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PDE4D	TTSKMI8	Supportive	Unknown	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDE4D	OT1RWFV0	Supportive	Unknown	[1]
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References

1	Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7.