PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4

Question 1

What is  PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4?

Accepted Answer

rare
autosomal dominant
mutation in the LHX4 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kleinwuchs - Hypophysen- und zerebelläre Defekte - kleine Sella turcica; CPHD4

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 262700

Question 4

Which enzymes are involved?

Accepted Answer

LIM/homeobox protein Lhx4

Disease	PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4
Synonym	SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA
OMIM	262700 OMIM = Online Mendelian Inheritance of Men
Orphanet	85442
Protein (UniProt)	LIM/homeobox protein Lhx4
Gene locus	1q25.2
ICD
Summary	rare autosomal dominant mutation in the LHX4 gene
Laboratory findings	Adrenocorticotropic hormone (ACTH) dec (serum) D-Glucose dec (plasma) Follicle stimulating hormone (FSH) dec (serum) Human growth hormone (hGH) dec (plasma) Luteinizing hormone (LH) dec (serum) Thyroid-stimulating hormone (TSH) dec (serum)
Symptoms	bone age, delayed gait disturbance hypoglycemia hypothyroidism MRI, brain, abnormalities [-] myopathy nystagmus onset, infancy onset, neonatal respiratory distress short stature skeletal changes, skeletal abnormalities strabismus