Congenital isolated ACTH deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: ADRENOCORTICOTROPIC HORMONE DEFICIENCY
IAD
Number of Symptoms 6
OrphanetNr: 199296
OMIM Id: 201400
ICD-10: E23.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Nonacquired pituitary hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000835) Adrenal hypoplasia 23 / 7739
2
(HPO:0008163) Decreased circulating cortisol level 5 / 7739
3
(HPO:0011748) Adrenocorticotropic hormone deficiency 2 / 7739
4
(HPO:0003162) Fasting hypoglycemia 8 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Hpoadrenotropism 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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). ...
Clinical Description OMIM Hung and Migeon (1968) described a 34-month-old black boy with apparent isolated ACTH deficiency. The adrenal medulla was unresponsive to insulin-induced hypoglycemia. Treatment of the adrenocortical insufficiency restored responsiveness. The enzyme phenylethanolamine-N-methyl transferase (PNMT; 171190) is localized to ...
Molecular genetics OMIM In patients with isolated deficiency of pituitary ACTH, including a patient reported by Malpuech et al. (1988), Lamolet et al. (2001) identified mutations in the TBX19 gene (e.g., 604614.0001).