Short fifth metacarpals-insulin resistance syndrome

Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 6

HPO ID Term Frequency
HP:0000842 Hyperinsulinemia Very frequent (99-80%)
HP:0001742 Nasal obstruction Very frequent (99-80%)
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004444 Spherocytosis Very frequent (99-80%)
HP:0010047 Short 5th metacarpal Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID