Laron syndrome with immunodeficiency

General Information (adopted from Orphanet):

Synonyms, Signs: LARON SYNDROME DUE TO POSTRECEPTOR DEFECT
GROWTH HORMONE INSENSITIVITY DUE TO POSTRECEPTOR DEFECT
Laron-like syndrome
Short stature due to STAT5b deficiency
Number of Symptoms 3
OrphanetNr: 220465
OMIM Id: 245590
ICD-10: D82.8
E34.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease
Growth hormone insensitivity syndrome
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000824) Growth hormone deficiency 56 / 7739
2
(HPO:0003510) Severe short stature 90 / 7739
3
(HPO:0002880) Respiratory difficulties 15 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Laron et al. (1966) reported a form of genetic dwarfism (262500) associated with high circulating growth hormone. Originally, they assumed a faulty GH molecule, but subsequent investigations established defective GH receptor (GHR; 600946), which precluded the binding of ...
Molecular genetics OMIM Freeth et al. (1997) identified 4 girls from 2 families with the Laron syndrome phenotype but normal GHBP levels. No GHR gene mutations were identified in 1 family. In the other family, the affected sibs, an unaffected brother, ...