Pituitary hormone deficiency, combined, 3

Preferred Label : Pituitary hormone deficiency, combined, 3;

Symbol : CPHD3;

CISMeF acronym : CPHD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, sensorineural, with pituitary dwarfism; Pituitary hormone deficiency, combined, with rigid cervical spine;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the LIM/homeodomain protein LHX3 gene (LHX3, 600577.0001);

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

Prefixed ID : #221750;

Details

Origin ID

221750;

UMLS CUI

C3489787;

Automatic exact mappings (from CISMeF team)
- LHX3 wt Allele [NCIt concept]
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Neurosensory deafness-pituitary dwarfism syndrome [ORDO Disease]
- Winkelman Bethge Pfeiffer syndrome [MeSH concept]
- winkelman bethge pfeiffer syndrome [MeSH Supplementary Concept]
DO Cross reference
- hypopituitarism [DO Concept]
Genes related to phenotype
- Lim homeobox gene 3 [OMIM gene]
HPO term(s)
- Anterior hypopituitarism [HPO term]
- Anterior pituitary hypoplasia [HPO term]
- Anterior pituitary hypoplasia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Gonadotropin deficiency [HPO term]
- Gonadotropin deficiency [HPO term]
- Intellectual disability [HPO term]
- Pituitary dwarfism [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Neurosensory deafness-pituitary dwarfism syndrome [ORDO Disease]
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurosensory deafness-pituitary dwarfism syndrome [ORDO Disease]
- Winkelman Bethge Pfeiffer syndrome [MeSH concept]
- winkelman bethge pfeiffer syndrome [MeSH Supplementary Concept]

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