Isolated growth hormone deficiency type IA

General Information (adopted from Orphanet):

Synonyms, Signs: PITUITARY DWARFISM I
GROWTH HORMONE DEFICIENCY, ISOLATED, AUTOSOMAL RECESSIVE
PRIMORDIAL DWARFISM
ILLIG-TYPE GROWTH HORMONE DEFICIENCY
IGHD IA
IGHD1A
SEXUAL ATELEIOTIC DWARFISM
Congenital isolated growth hormone deficiency type IA
Congenital IGHD type IA
Congenital isolated GH deficiency type IA
Number of Symptoms 10
OrphanetNr: 231662
OMIM Id: 262400
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:0000271) Abnormality of the face 108 / 7739
2
(HPO:0000839) Pituitary dwarfism 7 / 7739
3
(HPO:0003510) Severe short stature 90 / 7739
4
(HPO:0001943) Hypoglycemia 131 / 7739
5
(HPO:0002715) Abnormality of the immune system 46 / 7739
6
(OMIM) Puppet (baby doll) facies 1 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Isolated growth hormone deficiency 4 / 7739
9
(OMIM) Antibodies to administered growth hormone 1 / 7739
10
(OMIM) Sexual ateleiotic dwarfism 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM While short stature, delayed growth velocity, and delayed skeletal maturation are all seen with GH deficiency, none of these symptoms or signs is specific for GH deficiency. Therefore, patients should be evaluated for other, alternative systemic diseases before ...
Clinical Description OMIM Proportionate short stature, accompanied by a decreased growth velocity, is the most important clinical finding to support the diagnosis of growth hormone deficiency (GHD) (Phillips, 1995; Rimoin and Phillips, 1997). Delayed bone maturation and the absence of bone ...
Molecular genetics OMIM For an extensive discussion of the molecular genetics of IGHD type 1A and a listing of allelic variants in the GH1 gene, see 139250.

Dattani (2005) reviewed the genetic causes and phenotypic features of IGHD and ...