Details of Disease | DrugMAP

General Information of Disease (ID: DISCKFB4)

Disease Name	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Disease Hierarchy	DISES5W5: Macrocephaly, dysmorphic facies, and psychomotor retardation DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISHK54G: Overgrowth syndrome DISCKFB4: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Disease Identifiers	MONDO ID MONDO_0018710 UMLS CUI C5681123 MedGen ID 1814470 Orphanet ID 457359 SNOMED CT ID 1260143005

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
HERC1	OT73FVYZ	Supportive	Autosomal recessive	[1]
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References

1	Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability. Clin Genet. 2015 Oct;88(4):e1-3. doi: 10.1111/cge.12634. Epub 2015 Jul 27.