Acth deficiency, isolated

Preferred Label : Acth deficiency, isolated;

Symbol : IAD;

CISMeF acronym : IAD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Adrenocorticotropic hormone deficiency;

Description : Congenital isolated adrenocorticotropic hormone deficiency is characterized by severe hypoglycemia in the neonatal period, associated with seizures in about half of cases; prolonged cholestatic jaundice; and very low plasma ACTH levels with no significant response to CRH (122560). Plasma cortisol levels are also extremely low (Vallette-Kasic et al., 2005). TBX19 is required for initiation of transcription of the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the T-box 19 gene (TBX19, 604614.0001);

Laboratory abnormalities : Low serum cortisol;

Prefixed ID : #201400;

Details

Origin ID

201400;

UMLS CUI

C0271583;

Automatic exact mappings (from CISMeF team)
- Adrenocorticotropic Hormone Deficiency [NCIt concept]
- Adrenocorticotropic hormone deficiency [ICD-11 Subcategory]
- Adrenocorticotropic hormone deficiency [HPO term]
- Adrenocorticotropic hormone deficiency [MedDRA Preferred Term]
- Adrenocorticotropic hormone deficiency [MeSH concept]
- Adrenocorticotropic hormone deficiency (disorder) [SNOMED CT concept]
- Congenital isolated ACTH deficiency [ORDO Disease]
- Fractional Iron Absorption [NCIt concept]
- Idiopathic ductopenia [ORDO Disease]
- adrenocorticotropic hormone deficiency [DO Concept]
- adrenocorticotropic hormone deficiency [MeSH Supplementary Concept]
- insemination, artificial, heterologous [MeSH Descriptor]
Currated CISMeF NLP mapping
- ACTH deficiency, isolated [MeSH concept]
- ACTH deficiency, isolated [MeSH Supplementary Concept]
- Isolated ACTH deficiency [MedDRA LLT]
- Isolated adrenocorticotropic hormone deficiency [MedDRA LLT]
- Isolated corticotropin deficiency (disorder) [SNOMED CT concept]
- isolated corticotropin deficiency [SNOMED Notion]
DO Cross reference
- adrenocorticotropic hormone deficiency [DO Concept]
Genes related to phenotype
- T-box transcription factor 19 [OMIM gene]
HPO term(s)
- Adrenal hypoplasia [HPO term]
- Adrenocorticotropic hormone deficiency [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholestasis [HPO term]
- Decreased circulating cortisol level [HPO term]
- Fasting hypoglycemia [HPO term]
- Infantile onset [HPO term]
- Jaundice [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Congenital isolated ACTH deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ACTH deficiency, isolated [MeSH Supplementary Concept]
- ACTH deficiency, isolated [MeSH concept]
- Isolated ACTH deficiency [MedDRA LLT]
- Isolated adrenocorticotropic hormone deficiency [MedDRA LLT]
- Isolated corticotropin deficiency (disorder) [SNOMED CT concept]
- isolated corticotropin deficiency [SNOMED Notion]

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