Details of Disease | DrugMAP

General Information of Disease (ID: DISAMPTJ)

Disease Name	Macrocephaly/megalencephaly syndrome, autosomal recessive
Synonyms	MGCPH; Fryns Dereymaeker Haegeman syndrome; intellectual disability, macrocephaly, short stature and craniofacial dysmorphism; mental retardation, macrocephaly, short stature and craniofacial dysmorphism; macrocephaly/megalencephaly syndrome, autosomal recessive
Disease Hierarchy	DISYW5SV: Megalencephaly DISAMPTJ: Macrocephaly/megalencephaly syndrome, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0009544 UMLS CUI C3806412 OMIM ID 248000 MedGen ID 812742

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
TBC1D7	OT1ALJ63	Strong	Autosomal recessive	[1]
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References

1	Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. J Med Genet. 2013 Nov;50(11):740-4. doi: 10.1136/jmedgenet-2013-101680. Epub 2013 May 17.