GLUCOCORTICOID DEFICIENCY, FAMILIAL ISOLATED. MIGEON SYNDROME

Question 1

What is  GLUCOCORTICOID DEFICIENCY, FAMILIAL ISOLATED. MIGEON SYNDROME?

Accepted Answer

rare
autosomal recessive
hereditary unresponsiveness to adrenocorticotropic hormone

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Glukokortikoid-Mangel, familiärer

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 202200

Question 4

Which enzymes are involved?

Accepted Answer

Adrenocorticotropic hormone receptor

Disease	GLUCOCORTICOID DEFICIENCY, FAMILIAL ISOLATED. MIGEON SYNDROME
Synonym	ADRENAL UNRESPONSIVENESS TO ACTH; ADRENOCORTICAL UNRESPONSIVENESS TO ACTH, HEREDITARY
OMIM	202200 OMIM = Online Mendelian Inheritance of Men
Orphanet	361
Protein (UniProt)	Adrenocorticotropic hormone receptor
Gene locus	18p11.21
ICD	E27.1
Summary	rare autosomal recessive hereditary unresponsiveness to adrenocorticotropic hormone
Laboratory findings	Adrenocorticotropic hormone (ACTH) inc (plasma) Cortisol dec (serum) D-Glucose normal/dec (serum)
Symptoms	defect of adrenal gland or function dysphagia early death failure to thrive feeding difficulties, poor feeding hyperpigmentation hypoglycemia infections (severe or recurrent) lethargy, drowsiness, apathy mental retardation onset, childhood onset, neonatal seizures short stature