CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE

Question 1

What is  CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE?

Accepted Answer

rare
X-linked recessive
mutation in the arylsulfatase E gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Brachytelephalangealer Typ der Chondrodysplasia punctata

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 302950

Question 4

Which enzymes are involved?

Accepted Answer

Arylsulfatase E

Disease	CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE
Synonym	CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT; CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT TYPE
OMIM	302950 OMIM = Online Mendelian Inheritance of Men
Orphanet	79345
Protein (UniProt)	Arylsulfatase E
Gene locus	Xp22.33
ICD	Q77.3
Summary	rare X-linked recessive mutation in the arylsulfatase E gene
Laboratory findings	Steroid sulfatase dec (fibroblasts)
Symptoms	cataract hearing defect, deafness ichthyosis mental retardation nasal hypoplasia onset, childhood onset, infancy short stature X-ray, abnormalities