Details of Disease

General Information of Disease (ID: DISBA58S)

Disease Name Occipital horn syndrome
Synonyms
Ehlers-Danlos syndrome, occipital horn type; EDS9, formerly; EDS9; OHS; cutis laxa X-linked; Ehlers-Danlos syndrome, occipital horn type, formerly; cutis laxa, X-linked; Ehlers-Danlos syndrome, occipital horn type (formerly); EDS IX, formerly; EDS IX (formerly); cutis laxa, X-linked, formerly; EDS IX; Ehlers-Danlos syndrome type IX; occipital horn syndrome, X-linked recessive; Ehlers-Danlos syndrome type 9; occipital horn syndrome; X-linked cutis laxa
Definition Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.
Disease Hierarchy
DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
DISXHPKM: Copper metabolism disorder
DISMFQKM: Developmental anomaly of metabolic origin
DIS0OJ0Q: Inherited cutis laxa
DISBA58S: Occipital horn syndrome
Disease Identifiers
MONDO ID
MONDO_0010572
MESH ID
C537860
UMLS CUI
C0268353
OMIM ID
304150
MedGen ID
82793
Orphanet ID
198
SNOMED CT ID
59399004

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
ATP7A DT0LT17 Strong X-linked [1]
ATP7A DT0LT17 Strong Biomarker [2]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DESI1 OTFNIW98 Limited Biomarker [3]
SLC35G1 OTKZUA8O Limited Biomarker [3]
ATOX1 OT05LF59 Strong Genetic Variation [4]
ATP7A OTMR3GXP Strong X-linked [1]
CENPJ OTZCQZN5 Strong Biomarker [5]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Report of a novel ATP7A mutation causing distal motor neuropathy.Neuromuscul Disord. 2019 Oct;29(10):776-785. doi: 10.1016/j.nmd.2019.08.008. Epub 2019 Aug 23.
3 DNA Methylation Profiling of Blood Monocytes in Patients With Obesity Hypoventilation Syndrome: Effect of Positive Airway Pressure Treatment.Chest. 2016 Jul;150(1):91-101. doi: 10.1016/j.chest.2016.02.648. Epub 2016 Feb 26.
4 Genomic organization of ATOX1, a human copper chaperone.BMC Genet. 2003 Feb 5;4:4. doi: 10.1186/1471-2156-4-4.
5 The Role of Positive Airway Pressure Therapy in Adults with Obesity Hypoventilation Syndrome. A Systematic Review and Meta-Analysis.Ann Am Thorac Soc. 2020 Mar;17(3):344-360. doi: 10.1513/AnnalsATS.201907-528OC.