KEGG DISEASE: X-linked chondrodysplasia punctata

DISEASE: X-linked chondrodysplasia punctata

Entry

H01194                      Disease

Name

X-linked chondrodysplasia punctata

Subgroup

X-linked recessive chondrodysplasia punctata (CDPX1)
X-linked dominant chondrodysplasia punctata (CDPX2)

Description

Chondrodysplasia punctata (CDP) is a congenital disorder characterized by a skeletal abnormality, characterized by punctate calcification of the cartilage of the epiphyses, larynx and trachea. Different forms of CDP exist, the most common of which is inherited as an autosomal recessive trait (Rhizomelic CDP). CDP may also be inherited in a recessive and dominant X-linked fashion. The X-linked recessive CDP (CDPX1) characterized by facial anomalies with severe nasal hypoplasia, short stature, and distal phalangeal hypoplasia. Mutations in ARSE which encodes arylsulfatase E, showing a high sequence homology to steroid sulfatase. In X-linked dominant CDP (CDPX2), aberrant punctate calcification in cartilage is most prominent around the vertebral column, pelvis, and long bones. Additionally, CDPX2 patients may have asymmetric rhizomesomelia, sectorial cataracts, patchy alopecia, ichthyosis, and atrophoderma. It has been found that defects in D8-D7 sterol isomerase (EBP) cause CDPX2 and suggest a role for sterols in bone development.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H01194  X-linked chondrodysplasia punctata
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
  nt06034  Cholesterol biosynthesis
   H01194  X-linked chondrodysplasia punctata

Pathway

hsa00100

Steroid biosynthesis

Network

nt06034 Cholesterol biosynthesis

Gene

(CDPX1) ARSL [HSA:415] [KO:K18222]
(CDPX2) EBP [HSA:10682] [KO:K01824]

Comment

Rhizomelic chondrodysplasia punctata is described in H00207. [DS:H00207]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:12567415 (ARSL)

Authors

Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G

Title

X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

Journal

Am J Med Genet A 117A:164-8 (2003)
DOI:10.1002/ajmg.a.10950

Reference

PMID:10391219 (EBP)

Authors

Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D

Title

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome.

Journal

Nat Genet 22:291-4 (1999)
DOI:10.1038/10357

LinkDB

» Japanese version

DISEASE: MEND syndrome

Entry

H02248                      Disease

Name

MEND syndrome

Description

MEND syndrome (male EBP disorder with neurological defects) is an X-linked recessive condition in males with a phenotype remarkable for Dandy-Walker like congenital brain malformation, cataracts, collodion skin and cryptorchidism. Additional findings of hydrocephalus, dysplasia of the corpus callosum, cardiovascular, craniofacial and skeletal anomalies were regularly seen in patients. MEND syndrome is caused by EBP mutations. EBP is an integral membrane protein located mainly in the endoplasmic reticulum, which has dual functions as an enzyme converting cholestenol into lathosterol and as a high-affinity receptor for anti-ischaemic drugs.