PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2

Question 1

What is  PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2?

Accepted Answer

rare
autosomal recessive
mutation in the PROP1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypophysenhormon-Mangel, kombinierter, genetisch bedingte Formen; CPHD2

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 262600

Question 4

Which enzymes are involved?

Accepted Answer

Homeobox protein prophet of Pit-1 / Homeobox expressed in ES cells 1

Disease	PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2
Synonym	PANHYPOPITUITARISM; HANHART DWARFISM
OMIM	262600 OMIM = Online Mendelian Inheritance of Men
Orphanet	95494
Protein (UniProt)	Homeobox protein prophet of Pit-1 / Homeobox expressed in ES cells 1
Gene locus	5q35.3
ICD	E23.0
Summary	rare autosomal recessive mutation in the PROP1 gene
Laboratory findings	Adrenocorticotropic hormone (ACTH) normal/dec (serum) D-Glucose dec (plasma) Follicle stimulating hormone (FSH) dec (serum) Human growth hormone (hGH) dec (serum) Luteinizing hormone (LH) dec (serum) Prolactin dec (serum) Thyroid-stimulating hormone (TSH) dec (serum)
Symptoms	hypoglycemia hypogonadism hypothyroidism onset, childhood onset, infancy puberty, delayed or missing seizures short stature