Endocrine, nutritional and metabolic diseases
Disorders of other endocrine glands
Autosomal recessive
1q24.2
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. Plasma cortisol levels are also extremely low. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 201400.1 | United Arab Emirates | Unknown | Yes | Intellectual disability; Congenital hyp... Intellectual disability; Congenital hypothyroidism  | NM_005149.3:c.604-1G>C | Homozygous | Autosomal, Recessive | Al-Shamsi et al. 2016 | Two sisters died in ... |