Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C1762617 (
weakness
)
37,932
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Inositol polyphosphate-5-phosphatase
K [
INPP5K
(MIM: 607875)] acts as a PIP
3
5-phosphatase and regulates actin cytoskeleton, insulin, and cell migration. Biallelic pathogenic variants in
INPP5K
have recently been reported in patients affected by a form of muscular dystrophy with childhood onset. Affected patients have limb girdle muscle
weakness
, often associated with bilateral cataracts, short stature, and intellectual disability. Here we report four patients affected by
INPP5K
-related muscle dystrophy, who were apparently unrelated but originated from the same geographical area in South Italy. These patients manifest a recognizable phenotype characterized by early onset muscular dystrophy associated with short stature and intellectual disability. All affected subjects were homozygous or compound heterozygous for the c.67G > A (p.Val23Met) missense change and shared a common haplotype, indicating the occurrence of a founder effect.
...
PMID:A Recurrent Pathogenic Variant of
INPP5K
Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy. 3319 51
