Details of Disease | DrugMAP

General Information of Disease (ID: DISERE16)

Disease Name	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Synonyms	microcephaly, postnatal progressive, with seizures and brain atrophy; postnatal progressive microcephaly, seizures, and brain atrophy
Definition	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.
Disease Hierarchy	DISD715V: Hereditary neurological disease DISEP2HK: Central and peripheral nervous disease DISERE16: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Disease Identifiers	MONDO ID MONDO_0013351 UMLS CUI C3150921 OMIM ID 613668 MedGen ID 462271 Orphanet ID 402364

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
MED17	OTEZR5GC	Strong	Autosomal recessive	[1]
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References

1	Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. Am J Hum Genet. 2010 Nov 12;87(5):667-70. doi: 10.1016/j.ajhg.2010.09.016. Epub 2010 Oct 14.