PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

Question 1

What is  PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3?

Accepted Answer

rare
autosomal recessive
mutation in the LHX3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Nicht erworbener kombinierter Hypophysenhormon-Mangel-sensorineuraler Hörverlust-spinale Fehlbildungen-Syndrom; CPHD3

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 221750

Question 4

Which enzymes are involved?

Accepted Answer

LIM/homeobox protein Lhx3

Disease	PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3
Synonym	PITUITARY HORMONE DEFICIENCY, COMBINED, WITH RIGID CERVICAL SPINE DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM
OMIM	221750 OMIM = Online Mendelian Inheritance of Men
Orphanet	231720
Protein (UniProt)	LIM/homeobox protein Lhx3
Gene locus	9q34.3
ICD
Summary	rare autosomal recessive mutation in the LHX3 gene
Laboratory findings	Adrenocorticotropic hormone (ACTH) dec (serum) 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	feeding difficulties, poor feeding growth retardation, poor growth hearing defect, deafness mental retardation MRI, brain, abnormalities [-] onset, neonatal short neck short stature skeletal changes, skeletal abnormalities