HYPOADRENOCORTICISM, FAMILIAL

Question 1

What is  HYPOADRENOCORTICISM, FAMILIAL?

Accepted Answer

rare
autosomal recessive
mutations in the DAX-1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CHARGE-Syndrom [CHARGE-Assoziation] [Fehlbildungskomplex mit Kolobom, Herzfehler, Choanalatresie, psychomotorischer Reta

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 240200

Question 4

Which enzymes are involved?

Accepted Answer

hypoplasia or aplasia of adrenal glands

Disease	HYPOADRENOCORTICISM, FAMILIAL
Synonym	ADRENAL HYPOPLASIA, CONGENITAL; ADDISON DISEASE
OMIM	240200 OMIM = Online Mendelian Inheritance of Men
Orphanet	138
Gene locus
ICD	E27.1
Summary	rare autosomal recessive mutations in the DAX-1 gene
Laboratory findings	Cortisol normal/dec (serum) D-Glucose dec (serum) Potassium inc (urine) Sodium normal/dec (urine)
Symptoms	adrenal atrophy (autopsy) apnea cyanosis feeding difficulties, poor feeding hypoglycemia onset, neonatal seizures tachypnea, hyperpnea, dyspnea, hyperventilation vomiting