ADRENAL HYPOPLASIA. ADDISON DISEASE, X-LINKED

Question 1

What is  ADRENAL HYPOPLASIA. ADDISON DISEASE, X-LINKED?

Accepted Answer

rare
autosomal recessive X-linked
mutation in the NR0B1 gene
disorders with adrenal insufficiency are Adrenoleukodystrophy, Adrenomyeloneuropathy, Glycerol kinase deficiency

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Primäre Nebennierenrindeninsuffizienz (Addison-Krankheit)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300200

Question 4

Which enzymes are involved?

Accepted Answer

Nuclear receptor subfamily 0 group B member 1

Disease	ADRENAL HYPOPLASIA. ADDISON DISEASE, X-LINKED
Synonym	ADRENAL HYPOPLASIA; ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300200 OMIM = Online Mendelian Inheritance of Men
Orphanet	95702
Protein (UniProt)	Nuclear receptor subfamily 0 group B member 1
Gene locus	Xp21.2
ICD	E27.1
Summary	rare autosomal recessive X-linked mutation in the NR0B1 gene disorders with adrenal insufficiency are Adrenoleukodystrophy, Adrenomyeloneuropathy, Glycerol kinase deficiency
Laboratory findings	17-Ketosteroids dec (urine) Adrenocorticotropic hormone (ACTH) inc (plasma) Cortisol dec (serum) D-Glucose normal/dec (serum) pH normal/dec (blood) Potassium inc (serum) Sodium dec (serum)
Symptoms	cryptorchism cyanosis dehydration early death failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hyperpigmentation hypoglycemia hypotension metabolic acidosis onset, childhood onset, infancy onset, neonatal seizures tachypnea, hyperpnea, dyspnea, hyperventilation vomiting