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IAD
MCID: ACT238
MIFTS: 48
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Acth Deficiency, Isolated (IAD)
Categories:
Endocrine diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Acth Deficiency, Isolated:
Characteristics:Orphanet epidemiological data:59
congenital isolated acth deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy approximately 25% of patients die in infancy HPO:32
acth deficiency, isolated:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
ICD10:
34
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OMIM
:
57
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 POMC gene (176830), which produces the precursor peptide from which ACTH is derived (Lamolet et al., 2001). (201400)
MalaCards based summary : Acth Deficiency, Isolated, also known as adrenocorticotropic hormone deficiency, is related to hypothyroidism and lymphocytic hypophysitis. An important gene associated with Acth Deficiency, Isolated is TBX19 (T-Box 19), and among its related pathways/superpathways are G alpha (s) signalling events and Corticotropin-releasing hormone signaling pathway. The drugs Melanocyte-Stimulating Hormones and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and cortex, and related phenotypes are hypotension and fatigue Disease Ontology : 12 A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. UniProtKB/Swiss-Prot : 75 ACTH deficiency, isolated: An autosomal recessive disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low. Wikipedia : 76 Adrenocorticotropic hormone deficiency (ACTH deficiency) is a result of a decreased or absent production... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:201400Human phenotypes related to Acth Deficiency, Isolated:59 32 (show all 14)
MGI Mouse Phenotypes related to Acth Deficiency, Isolated:46
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Drugs for Acth Deficiency, Isolated (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 8)
Interventional clinical trials:
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MalaCards organs/tissues related to Acth Deficiency, Isolated:41
Pituitary,
Thyroid,
Cortex,
Lung,
Heart,
Adrenal Gland,
Adrenal Cortex
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Articles related to Acth Deficiency, Isolated:(show all 46)
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Genes related to Acth Deficiency, Isolated (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Acth Deficiency, Isolated:75
ClinVar genetic disease variations for Acth Deficiency, Isolated:6 (show top 50) (show all 131)
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Search
GEO
for disease gene expression data for Acth Deficiency, Isolated.
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Biological processes related to Acth Deficiency, Isolated according to GeneCards Suite gene sharing:
Molecular functions related to Acth Deficiency, Isolated according to GeneCards Suite gene sharing:
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