Details of Disease | DrugMAP

General Information of Disease (ID: DISL5AZO)

Disease Name	Hamel cerebro-palato-cardiac syndrome
Definition	Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.
Disease Hierarchy	DISYK1IP: Renpenning syndrome DISL5AZO: Hamel cerebro-palato-cardiac syndrome
Disease Identifiers	MONDO ID MONDO_0019767 UMLS CUI C5681615 MedGen ID 1842506 Orphanet ID 93946

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
PQBP1	OTXCBEAH	Supportive	X-linked	[1]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.