Details of Disease

General Information of Disease (ID: DISDJVPL)

Disease Name Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Synonyms
SPATCCM; spastic tetraplegia, thin corpus callosum, and progressive microcephaly; ASCT1 deficiency; spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Disease Hierarchy
DISCF5UM: Neurometabolic disorder due to serine deficiency
DISDJVPL: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Disease Identifiers
MONDO ID
MONDO_0014725
UMLS CUI
C4225254
OMIM ID
616657
MedGen ID
900192
Orphanet ID
447997
SNOMED CT ID
1237418002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC1A4 DTC54PX Limited Biomarker [1]
SLC1A4 DTC54PX Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC1A4 OTVODHAE Definitive Autosomal recessive [2]
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References

1 A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.J Neurogenet. 2018 Dec;32(4):316-321. doi: 10.1080/01677063.2018.1476510. Epub 2018 Jul 10.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.