Septooptic dysplasia

Preferred Label : Septooptic dysplasia;

CISMeF acronym : CPHD5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : De morsier syndrome;

Included titles and symbols : Pituitary hormone deficiency, combined, 5; Growth hormone deficiency with pituitary anomalies; CPHD5;

Description : Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the homeo box gene expressed in ES cells (HESX1, 601802.0001);

Laboratory abnormalities : Low or absent growth hormone (GH); Low or absent adrenocorticotropic hormone (ACTH); Low or absent follicle-stimulating hormone (FSH); Low or absent thyrotropin (TSH); Low or absent luteinizing hormone (LH);

Prefixed ID : #182230;

Details

Origin ID

182230;

UMLS CUI

C0338503;

Automatic exact mappings (from CISMeF team)
- Combined pituitary hormone deficiencies, genetic forms [ORDO Disease]
- Septo-optic dysplasia [ICD-11 More detail]
- growth hormone deficiency with pituitary anomalies [MeSH Supplementary Concept]
- growth hormone deficiency with pituitary anomalies [MeSH concept]
Currated CISMeF NLP mapping
- Septo-Optic Dysplasia [NCIt concept]
- Septo-Optic dysplasia [MeSH concept]
- Septo-optic dysplasia [ICD-10 Sub-category (who)]
- Septo-optic dysplasia [HRDO Sign]
- Septo-optic dysplasia [MedDRA Preferred Term]
- Septo-optic dysplasia [HPO term]
- Septo-optic dysplasia of brain [ICD-10 Sub-category]
- Septo-optic dysplasia sequence (disorder) [SNOMED CT concept]
- Septo-optic dysplasia spectrum [ORDO Disease]
- Septooptic dysplasia [PASCAL descriptor]
- de Morsier's syndrome [MedDRA LLT]
- septo-optic dysplasia [Disease (Nov.)]
- septo-optic dysplasia [MeSH Descriptor]
- septo-optic dysplasia sequence [SNOMED Notion]
- septooptic dysplasia [DO Concept]
DO Cross reference
- septooptic dysplasia [DO Concept]
Genes related to phenotype
- Hesx homeobox 1 [OMIM gene]
HPO term(s)
- Absent septum pellucidum [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anterior pituitary hypoplasia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Diabetes insipidus [HPO term]
- Global developmental delay [HPO term]
- Hypoplastic optic discs with double margin [HPO term]
- Optic disc hypoplasia [HPO term]
- Optic nerve hypoplasia [HPO term]
- Polydactyly [HPO term]
- Psychomotor retardation [HPO term]
- Short finger [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Combined pituitary hormone deficiencies, genetic forms [ORDO Disease]
- Septo-optic dysplasia spectrum [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Septo-Optic Dysplasia [NCIt concept]
- Septo-Optic dysplasia [MeSH concept]
- Septo-optic dysplasia [MedDRA Preferred Term]
- Septo-optic dysplasia [ICD-10 Sub-category (who)]
- Septo-optic dysplasia [HPO term]
- Septo-optic dysplasia [HRDO Sign]
- Septo-optic dysplasia sequence (disorder) [SNOMED CT concept]
- Septooptic dysplasia [PASCAL descriptor]
- de Morsier's syndrome [MedDRA LLT]
- septo-optic dysplasia [MeSH Descriptor]
- septo-optic dysplasia sequence [SNOMED Notion]
- septooptic dysplasia [DO Concept]

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