Pituitary hormone deficiency, combined, 2

Preferred Label : Pituitary hormone deficiency, combined, 2;

Symbol : CPHD2;

CISMeF acronym : CPHD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hanhart dwarfism; Pituitary dwarfism III; Ateliotic dwarfism with hypogonadism; PANHYPOPITUITARISM;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in PROP paired-like homeobox 1 gene (PROP1, 601538.0001);

Laboratory abnormalities : IGF-1 deficiency; Normal adrenocorticotropic hormone (ACTH); Follicle stimulation hormone (FSH) deficiency; Hypercholesterolemia; Growth hormone (GH) deficiency; Thyroid stimulation hormone (TSH) deficiency; Luteinizing hormone (LH) deficiency; Prolactin hormone (PRL) deficiency;

Prefixed ID : #262600;

Détails

Origin ID

262600;

UMLS CUI

C0878683;

Automatic exact mappings (from CISMeF team)
- Combined pituitary hormone deficiencies, genetic forms [ORDO Disease]
- Hypopituitarism [ICD-10 Sub-category]
- Non-acquired combined pituitary hormone deficiency [ORDO Disease]
- Non-acquired panhypopituitarism [ORDO Disease]
- Panhypopituitarism [PASCAL descriptor]
- Panhypopituitarism [NCIt concept]
- Panhypopituitarism [ICD-11 More detail]
- Panhypopituitarism [ICD-9 code]
- Panhypopituitarism [HPO term]
- Panhypopituitarism [MedDRA LLT]
- Panhypopituitarism (disorder) [SNOMED CT concept]
- Pituitary Dwarfism [NCIt concept]
- Pituitary dwarfism [PASCAL descriptor]
- combined pituitary hormone deficiency [MeSH Supplementary Concept]
- dwarfism, pituitary [MeSH Descriptor]
- dwarfism, pituitary [MeSH concept]
- panhypopituitarism [DO Concept]
- panhypopituitarism, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- pituitary hormone deficiency, combined, 2 [MeSH concept]
- pituitary hormone deficiency, combined, 2 [MeSH Supplementary Concept]
DO Cross reference
- hypopituitarism [DO Concept]
Genes related to phenotype
- Prop paired-like homeobox 1 [OMIM gene]
HPO term(s)
- Adrenal insufficiency [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypoadrenalism [HPO term]
- Hypoglycemic seizures [HPO term]
- Hypogonadism [HPO term]
- Hypothyroidism [HPO term]
- Neonatal hypoglycemia [HPO term]
- Panhypopituitarism [HPO term]
- Reduced circulating prolactin concentration [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Combined pituitary hormone deficiencies, genetic forms [ORDO Disease]
- Non-acquired panhypopituitarism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- pituitary hormone deficiency, combined, 2 [MeSH Supplementary Concept]
- pituitary hormone deficiency, combined, 2 [MeSH concept]

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