Details of Disease

General Information of Disease (ID: DISD33KW)

Disease Name Pontocerebellar hypoplasia type 2D
Synonyms
pontocerebellar hypoplasia, type 2D; cerebello-cerebral atrophy, progressive; PCH2D; Cerebellocerebral atrophy, progressive; SEPSECS non-syndromic pontocerebellar hypoplasia; pontocerebellar hypoplasia type 2D; non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS
Definition Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene.
Disease Hierarchy
DISXV76G: Pontocerebellar hypoplasia type 2
DISRICMU: Pontocerebellar hypoplasia
DISD33KW: Pontocerebellar hypoplasia type 2D
Disease Identifiers
MONDO ID
MONDO_0013438
UMLS CUI
C3151140
OMIM ID
613811
MedGen ID
462490
SNOMED CT ID
1208481000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PCCA TT1JDE3 Strong Genetic Variation [1]
PCCB TT5LURU Strong 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
SEPSECS OTP0FHOV Definitive Autosomal recessive [2]
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References

1 Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.Am J Hum Genet. 1987 Dec;41(6):1124-31.
2 A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia. J Inherit Metab Dis. 2018 Sep;41(5):897-898. doi: 10.1007/s10545-018-0151-x. Epub 2018 Feb 20.