PYGMY

General Information (adopted from Orphanet):

Synonyms, Signs: PYGMY, AFRICAN
Number of Symptoms 11
OrphanetNr:
OMIM Id: 265850
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Multifactorial
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000818) Abnormality of the endocrine system 26 / 7739
2
 (HPO:0004322) Short stature 1232 / 7739
3
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
4
 (HPO:0001426) Multifactorial inheritance 37 / 7739
5
 (OMIM) Short stature from birth 1 / 7739
6
 (OMIM) Decreased serum insulin-like growth factor 1 (IGF1) 3 / 7739
7
 (OMIM) Abnormal IGFR1 function 1 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (OMIM) No growth response to exogenous growth hormone (GH, 139250) 1 / 7739
10
 (OMIM) Decreased number of IGF1 receptors (IGF1R, 147370) on cell surface 1 / 7739
11
 (OMIM) Decreased secretion of IGF1 in response to GH administration 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Efe Pygmies from the Ituri forest of northeast Zaire have the shortest mean adult stature of any population on earth, with a mean adult male height of 4 feet, 8 inches, and a mean adult female height of ...
Molecular genetics OMIM Bowcock and Sartorelli (1990) found no difference in the distribution of IGF1 RFLPs in Pygmies versus non-Pygmy black Africans. There was also no correlation of IGF1 genotype with height in the Pygmies. Suspecting an abnormality in the transcriptional ...