MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (MDCCAID, INPP5K))

Question 1

What is  MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (MDCCAID, INPP5K))?

Accepted Answer

rare

autosomal recessive

mutation in the INPP5K gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617404

Question 3

Which enzymes are involved?

Accepted Answer

Inositol polyphosphate 5-phosphatase K

Disease	MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (MDCCAID, INPP5K))
OMIM	617404 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Inositol polyphosphate 5-phosphatase K
Gene locus	17p13.3
ICD
Summary	rare autosomal recessive mutation in the INPP5K gene
Laboratory findings	Creatine kinase inc (serum)
Symptoms	cataract contractures, joints defect of walking, running, rising or climbing developmental delay hyperreflexia hypotonia joint laxity microcephaly (<2 SD for age) muscle weakness muscular dystrophy onset, childhood onset, infancy onset, neonatal respiratory insufficiency seizures short stature skoliosis, kyphoskoliosis strabismus