Details of Disease

General Information of Disease (ID: DIS4KXBA)

Disease Name Gaze palsy, familial horizontal, with progressive scoliosis 1
Synonyms Ophthalmoplegia, Progressive External, and Scoliosis; gaze palsy, familial horizontal, with progressive scoliosis 1; HGPPS1; gaze palsy, familial horizontal, with progressive scoliosis, 1; HGPPS
Disease Hierarchy
DISCA0OX: Horizontal gaze palsy with progressive scoliosis
DIS4KXBA: Gaze palsy, familial horizontal, with progressive scoliosis 1
Disease Identifiers
MONDO ID
MONDO_0020790
UMLS CUI
C4551964
OMIM ID
607313
MedGen ID
1647423

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
DCC OT2C1SHW Strong Biomarker [1]
ROBO3 OTPVG40S Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 Biallelic mutations in human DCC cause developmental split-brain syndrome.Nat Genet. 2017 Apr;49(4):606-612. doi: 10.1038/ng.3804. Epub 2017 Feb 27.
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.