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Isolated growth hormone deficiency type IB
1 OMIM reference -
2 associated genes
47 connected diseases
No signs/symptoms info
Disease Type of connection
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type II
Short stature due to growth hormone qualitative anomaly
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa
Laron syndrome
Short stature due to partial GHR deficiency
Split hand-split foot malformation
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Adenine phosphoribosyltransferase deficiency
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal thrombocytopenia with normal platelets
Blackfan-Diamond anemia
Catecholaminergic polymorphic ventricular tachycardia
Cerebro-facio-thoracic dysplasia
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Diffuse palmoplantar keratoderma with painful fissures
Familial isolated dilated cardiomyopathy
Focal palmoplantar keratoderma with joint keratoses
Idiopathic pulmonary fibrosis
Ketoacidosis due to beta-ketothiolase deficiency
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Muscular dystrophy, Selcen type
Naxos disease
Perrault syndrome
Pyruvate dehydrogenase E1-beta deficiency
Reticular dysgenesis
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Total spina bifida aperta
Total spina bifida cystica
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Wolfram syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Synonym(s):
- Congenital IGHD type IB
- Congenital isolated GH deficiency type IB
- Congenital isolated growth hormone deficiency type IB
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GH1 P01241139250
GHRHR Q02643139191
No signs/symptoms info available.