Sclerosteosis 1

Preferred Label : Sclerosteosis 1;

Symbol : SOST1;

CISMeF acronym : SOST; SOST1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SOST; Cortical hyperostosis with syndactyly;

Description : Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001). - Genetic Heterogeneity of Sclerosteosis Sclerosteosis-2 (SOST2; 614305) is caused by mutation in the LRP4 gene (604270) on chromosome 11p11.2.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the sclerostin gene (SOST, 605740.0001);

Prefixed ID : #269500;

Details

Origin ID

269500;

UMLS CUI

C4551483;

Automatic exact mappings (from CISMeF team)
- SOST Gene [NCIt concept]
- Sclerostin Measurement [NCIt concept]
- sclerostin [ORDO Gene]
Currated CISMeF NLP mapping
- Sclerosteosis [MeSH concept]
- Sclerosteosis [ORDO Disease]
- sclerosteosis [Disease (Nov.)]
- sclerosteosis [MeSH Supplementary Concept]
- sclerosteosis 1 [DO Concept]
DO Cross reference
- sclerosteosis 1 [DO Concept]
Genes related to phenotype
- Sclerostin [OMIM gene]
HPO term(s)
- 2-3 finger syndactyly [HPO term]
- Abnormality of pelvic girdle bone morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Broad clavicles [HPO term]
- Broad ribs [HPO term]
- Broad, flat nasal root [HPO term]
- Cognitive impairment [HPO term]
- Constriction of peripheral visual field [HPO term]
- Cortically dense long tubular bones [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Deviation of finger [HPO term]
- Esotropia [HPO term]
- Facial palsy [HPO term]
- Facial palsy secondary to cranial hyperostosis [HPO term]
- Frontal bossing [HPO term]
- Headache [HPO term]
- Hearing impairment [HPO term]
- Hypertelorism [HPO term]
- Increased intracranial pressure [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Midface retrusion [HPO term]
- Nail dysplasia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Overgrowth [HPO term]
- Proptosis [HPO term]
- Sclerotic scapulae [HPO term]
- Sclerotic vertebral endplates [HPO term]
- Sudden death [HPO term]
- Visual loss [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Sclerosteosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sclerosteosis [ORDO Disease]
- Sclerosteosis [MeSH concept]
- Sclerosteosis [PASCAL descriptor]
- Sclerosteosis [NCIt concept]
- Sclerosteosis (disorder) [SNOMED CT concept]
- sclerosteosis [MeSH Supplementary Concept]
- sclerosteosis [SNOMED Notion]
- sclerosteosis [DO Concept]
- sclerosteosis [Disease (Nov.)]
- sclerosteosis 1 [DO Concept]
Validated automatic mappings to NTBT
- Sclerosteosis [NCIt concept]

Keyword's position in hierarchy(ies) :

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