Isolated growth hormone deficiency type II

General Information (adopted from Orphanet):

Synonyms, Signs: GROWTH HORMONE DEFICIENCY, ISOLATED, AUTOSOMAL DOMINANT
IGHD II
PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT
IGHD2
Congenital isolated GH deficiency type II
Congenital isolated growth hormone deficiency type II
Congenital IGHD type II
Number of Symptoms 7
OrphanetNr: 231679
OMIM Id: 173100
ICD-10: E23.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Non-acquired isolated growth hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000839) Pituitary dwarfism 7 / 7739
2
(HPO:0000824) Growth hormone deficiency 56 / 7739
3
(HPO:0003510) Severe short stature 90 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Isolated growth hormone deficiency 4 / 7739
6
(OMIM) No insulinopenia 1 / 7739
7
(OMIM) Insulin responses to glucose and to arginine usually greater than normal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Phillips and Cogan (1994) referred to the autosomal dominant form of isolated growth hormone deficiency as IGHD II. They pointed out that the clinical severity varies considerably between kindreds and that affected patients respond well to GH treatment ...
Molecular genetics OMIM In affected members of a Turkish family segregating IGHD II, Phillips and Cogan (1994) identified a splice site mutation in the GH1 gene (IVS3+6T-C; 139250.0007).

Mullis et al. (2005) studied a total of 57 subjects with ...