Pituitary hormone deficiency, combined or isolated, 1

Preferred Label : Pituitary hormone deficiency, combined or isolated, 1;

Symbol : CPHD1;

CISMeF acronym : CPHD1;

Type : Phenotype, molecular basis known;

Description : Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL; 176760), and thyroid-stimulating hormone (TSH; see 188540), while the production of adrenocorticotrophic hormone (ACTH; see 176830), luteinizing hormone (LH; 152780), and follicle-stimulating hormone (FSH; 136530) are preserved (Wu et al., 1998). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992). - Genetic Heterogeneity of Combined Pituitary Hormone Deficiency;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the POU domain, class 1, transcription factor 1 gene (POU1F1, 173110.0001);

Laboratory abnormalities : Low or absent thyroid-stimulating hormone (TSH); Low or absent growth hormone (GH); Low or absent prolactin (PL);

Prefixed ID : #613038;

Details

Origin ID

613038;

UMLS CUI

C2751608;

Automatic exact mappings (from CISMeF team)
- Combined pituitary hormone deficiencies, genetic forms [ORDO Disease]
- POU1F1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- pituitary hormone deficiency, combined, 1 [MeSH concept]
- pituitary hormone deficiency, combined, 1 [MeSH Supplementary Concept]
DO Cross reference
- hypopituitarism [DO Concept]
Genes related to phenotype
- Pou domain, class 1, transcription factor 1 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Deeply set eye [HPO term]
- Delayed cranial suture closure [HPO term]
- Depressed nasal bridge [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Jaundice [HPO term]
- Macroglossia [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Open sutures [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Prominent forehead [HPO term]
- Severe growth retardation [HPO term]
- Severe postnatal growth retardation [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Combined pituitary hormone deficiencies, genetic forms [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- pituitary hormone deficiency, combined, 1 [MeSH Supplementary Concept]
- pituitary hormone deficiency, combined, 1 [MeSH concept]

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