Details of Disease

General Information of Disease (ID: DISJAND1)

Disease Name Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Synonyms
IHPRF2; hypotonia, infantile, with psychomotor retardation and characteristic facies type 2; hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2; UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies; hypotonia, infantile, with psychomotor retardation and characteristic facies 2; hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80
Definition Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.
Disease Hierarchy
DISFA88I: Hypotonia, infantile, with psychomotor retardation and characteristic facies
DISJAND1: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Disease Identifiers
MONDO ID
MONDO_0014777
UMLS CUI
C4225203
OMIM ID
616801
MedGen ID
907651

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UNC80 OTOKH69N Definitive Autosomal recessive [1]
NALCN OTWY7DS0 Limited Biomarker [2]
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References

1 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.
2 Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23.