Pituitary hormone deficiency, combined, 4

Preferred Label : Pituitary hormone deficiency, combined, 4;

Symbol : CPHD4;

CISMeF acronym : CPHD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Short stature, pituitary and cerebellar defects, and small sella turcica; Pituitary hormone deficiency, combined, with or without cerebellar defects;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the LIM homeo box gene 4 (LHX4, 602146.0001);

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

Prefixed ID : #262700;

Details

Origin ID

262700;

UMLS CUI

C2678408;

Automatic exact mappings (from CISMeF team)
- LHX4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Short stature-pituitary and cerebellar defects-small sella turcica syndrome [ORDO Disease]
- pituitary hormone deficiency, combined, 4 [MeSH concept]
- pituitary hormone deficiency, combined, 4 [MeSH Supplementary Concept]
DO Cross reference
- hypopituitarism [DO Concept]
Genes related to phenotype
- Lim homeobox gene 4 [OMIM gene]
HPO term(s)
- Adrenal insufficiency [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hypoadrenalism [HPO term]
- Hypoglycemia [HPO term]
- Hypothyroidism [HPO term]
- Impaired growth-hormone response to insulin stimulation test [HPO term]
- Marked delay in bone age [HPO term]
- Pituitary dwarfism [HPO term]
- Severe growth retardation from infancy [HPO term]
- Severe postnatal growth retardation [HPO term]
- Short stature [HPO term]
- Small sella turcica [HPO term]
ORDO concept(s)
- Short stature-pituitary and cerebellar defects-small sella turcica syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Short stature-pituitary and cerebellar defects-small sella turcica syndrome [ORDO Disease]
- pituitary hormone deficiency, combined, 4 [MeSH Supplementary Concept]
- pituitary hormone deficiency, combined, 4 [MeSH concept]

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