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Short stature due to partial GHR deficiency
1 OMIM reference -
1 associated gene
39 connected diseases
No signs/symptoms info
Disease Type of connection
Laron syndrome
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Short stature due to growth hormone qualitative anomaly
Split hand-split foot malformation
Autosomal agammaglobulinemia
SHORT syndrome
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Metachondromatosis
Noonan syndrome
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Atypical Gaucher disease due to saposin C deficiency
Encephalopathy due to prosaposin deficiency
Infantile Krabbe disease
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Acute promyelocytic leukemia
Laron syndrome with immunodeficiency
Autosomal dominant hyper-IgE syndrome
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Cerebellar ataxia - hypogonadism
Giant cell arteritis
Granulomatosis with polyangiitis
Pediatric systemic lupus erythematosus
T-B+ severe combined immunodeficiency due to CD45 deficiency
Congenital analbuminemia
Familial afibrinogenemia
Familial dysfibrinogenemia
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Synonym(s):
- Short stature due to partial growth hormone receptor deficiency
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GHR P10912600946
No signs/symptoms info available.