Isolated growth hormone deficiency type IB

General Information (adopted from Orphanet):

Synonyms, Signs: DWARFISM OF SINDH
IGHD IB
IGHD1B
Congenital IGHD type IB
Congenital isolated growth hormone deficiency type IB
Congenital isolated GH deficiency type IB
Number of Symptoms 4
OrphanetNr: 231671
OMIM Id: 612781
ICD-10: E23.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[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:0000824) Growth hormone deficiency 56 / 7739
2
(HPO:0002750) Delayed skeletal maturation 250 / 7739
3
(HPO:0004322) Short stature 1232 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Patients with IGHD type IB are characterized by low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to GH therapy.

See entry 262400 for a summary ...

Clinical Description OMIM Wajnrajch et al. (1996) described 2 first cousins, a boy and a girl, from a consanguineous Indian Moslem kindred with the typical phenotype of severe growth hormone deficiency (isolated growth hormone deficiency IB). The 3.5-year-old girl and her ...
Molecular genetics OMIM In at least 2 members of a consanguineous family with profound growth hormone deficiency, Wajnrajch et al. (1996) demonstrated a nonsense mutation in the human GHRHR gene (139191.0001). The phenotype in this Indian Moslem kindred was comparable to ...