PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1

Question 1

What is  PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1?

Accepted Answer

rare
autosomal recessive
autosomal dominant
mutation in the POU1F1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypophysenhormon-Mangel, kombinierter, genetisch bedingte Formen; CPHD1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613038

Question 4

Which enzymes are involved?

Accepted Answer

Pituitary-specific positive transcription factor 1

Disease	PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1
OMIM	613038 OMIM = Online Mendelian Inheritance of Men
Orphanet	95494
Protein (UniProt)	Pituitary-specific positive transcription factor 1
Gene locus	3p11.2
ICD	E23.0
Summary	rare autosomal recessive autosomal dominant mutation in the POU1F1 gene
Laboratory findings	Human growth hormone (hGH) dec (serum) Prolactin dec (serum) Thyroid-stimulating hormone (TSH) dec (serum)
Symptoms	dysmorphism growth retardation, poor growth hypothyroidism hypotonia mental retardation MRI, brain, abnormalities [-] onset, infancy onset, neonatal short stature small mid-face (malar or maxillary hypoplasia)