PITUITARY HORMONE DEFICIENCY, COMBINED, 6

General Information (adopted from Orphanet):

Synonyms, Signs: CPHD6
Number of Symptoms 5
OrphanetNr:
OMIM Id: 613986
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0011755) Ectopic posterior pituitary 4 / 7739
2
 (HPO:0004322) Short stature 1232 / 7739
3
 (OMIM) Pituitary hormone deficiencies 2 / 7739
4
 (MedDRA:10051944) Pituitary hypoplasia 2 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In 19 patients with hypopituitarism, Diaczok et al. (2008) analyzed 8 genes encoding pituitary-specific transcription factors, including HESX1 (601802), LHX3 (600577), LHX4 (602146), OTX2, PITX2 (601542), POU1F1 (173110), PROP1 (601538), and SIX6 (606326), and identified heterozygosity for a ...