Occipital horn syndrome

Preferred Label : Occipital horn syndrome;

Symbol : OHS;

CISMeF acronym : OHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Eds ix; Ehlers-danlos syndrome, occipital horn type; Eds9; Cutis laxa, X-linked;

Description : Occipital horn syndrome is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ATPase, Cu transporting, alpha polypeptide gene (ATP7A, 300011.0002);

Neoplasia : Bladder carcinoma;

Laboratory abnormalities : Decreased serum copper; Decreased ceruloplasmin;

Prefixed ID : #304150;

Details

Origin ID

304150;

UMLS CUI

C0268353;

Automatic exact mappings (from CISMeF team)
- Obesity hypoventilation syndrome [ICD-11 Subcategory]
- hydroxide ion [MeSH concept]
- hydroxide ion [MeSH Supplementary Concept]
- overhydrated hereditary stomatocytosis [DO Concept]
Currated CISMeF NLP mapping
- Cutis laxa, x-linked (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome type IX [MedDRA LLT]
- Occipital horn syndrome [MeSH concept]
- Occipital horn syndrome [ORDO Disease]
- X-linked cutis laxa [ICD-11 More detail]
- cutis laxa, x-linked [SNOMED Notion]
- occipital horn syndrome [DO Concept]
- occipital horn syndrome [MeSH Supplementary Concept]
DO Cross reference
- occipital horn syndrome [DO Concept]
Genes related to phenotype
- Atpase, cu(2+)-transporting, alpha polypeptide [OMIM gene]
HPO term(s)
- Bladder carcinoma [HPO term]
- Bladder diverticulum [HPO term]
- Broad clavicles [HPO term]
- Broad ribs [HPO term]
- Bruising susceptibility [HPO term]
- Capitate-hamate fusion [HPO term]
- Carotid artery tortuosity [HPO term]
- Chronic diarrhea [HPO term]
- Coarse hair [HPO term]
- Convex nasal ridge [HPO term]
- Coxa valga [HPO term]
- Genu valgum [HPO term]
- Hiatus hernia [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydronephrosis [HPO term]
- Hyperextensible skin [HPO term]
- Joint laxity [HPO term]
- Kyphosis [HPO term]
- Limited elbow extension [HPO term]
- Limited knee extension [HPO term]
- Long face [HPO term]
- Long neck [HPO term]
- Long philtrum [HPO term]
- Long, thin face [HPO term]
- Mild platyspondyly [HPO term]
- Mildly extensible skin [HPO term]
- Narrow chest [HPO term]
- Narrow face [HPO term]
- Orthostatic hypotension [HPO term]
- Osteoporosis [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Pelvic bone exostoses [HPO term]
- Persistent open anterior fontanelle [HPO term]
- Pes planus [HPO term]
- Platyspondyly [HPO term]
- Redundant skin [HPO term]
- Short clavicles [HPO term]
- Short humeri [HPO term]
- Short humerus [HPO term]
- Short, broad clavicles [HPO term]
- Soft skin [HPO term]
- Ureteral obstruction [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Occipital horn syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Cutis laxa, x-linked (disorder) [SNOMED CT concept]
- Occipital horn syndrome [MeSH concept]
- cutis laxa, x-linked [SNOMED Notion]
- occipital horn syndrome [MeSH Supplementary Concept]
- occipital horn syndrome [DO Concept]

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