Details of Disease | DrugMAP

General Information of Disease (ID: DISBKRMO)

Disease Name	Microcephaly 1, primary, autosomal recessive
Synonyms	PCC syndrome; premature chromosome condensation with microcephaly and mental retardation; premature chromosome condensation syndrome; MCPH1; premature chromosome condensation with microcephaly and intellectual disability; MCPH1 autosomal recessive primary microcephaly; microcephaly 1, primary, autosomal recessive; autosomal recessive primary microcephaly caused by mutation in MCPH1
Definition	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.
Disease Hierarchy	DISSR6LP: Microcephaly with intellectual disability DIS29IE3: Autosomal recessive primary microcephaly DISBKRMO: Microcephaly 1, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0009617 MESH ID C565384 UMLS CUI C1855081 OMIM ID 251200 MedGen ID 344415 Orphanet ID 52183

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
SDHD	TTVH9W8	Limited	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MCPH1	OTYT3TT5	Definitive	Autosomal recessive	[2]
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References

1	Multimodality Radionuclide Imaging in a Patient With Hereditary Paraganglioma-Pheochromocytoma Syndrome.Clin Nucl Med. 2017 Dec;42(12):964-965. doi: 10.1097/RLU.0000000000001841.
2	A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. J Med Genet. 2010 Dec;47(12):823-8. doi: 10.1136/jmg.2009.076398. Epub 2010 Oct 26.