CDPX1
MCID: CHN038
MIFTS: 26

Chondrodysplasia Punctata, X-Linked Recessive (CDPX1) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases, Eye diseases, Skin diseases

Aliases & Classifications for Chondrodysplasia Punctata, X-Linked Recessive

Aliases & Descriptions for Chondrodysplasia Punctata, X-Linked Recessive:

Name: Chondrodysplasia Punctata, X-Linked Recessive 54 13
Chondrodysplasia Punctata 1, X-Linked Recessive 50 66
Chondrodysplasia Punctata Brachytelephalangic 50 66
Brachytelephalangic Chondrodysplasia Punctata 56 69
Cdpx1 50 66
Chondrodysplasia Punctata 1 X-Linked Recessive 50
Chondrodysplasia Punctata, Brachytelephalangic 50
X-Linked Recessive Chondrodysplasia Punctata 1 29
X-Linked Chondrodysplasia Punctata 1 69
Arylsulfatase E Deficiency 50
Cpxr 50

Characteristics:

Orphanet epidemiological data:

56
brachytelephalangic chondrodysplasia punctata
Inheritance: X-linked recessive;

HPO:

32
chondrodysplasia punctata, x-linked recessive:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 302950
Orphanet 56 ORPHA79345
MESH via Orphanet 43 C535941
UMLS via Orphanet 70 C1844853
ICD10 via Orphanet 34 Q77.3
MedGen 40 C1844853
MeSH 42 D002806

Summaries for Chondrodysplasia Punctata, X-Linked Recessive

NIH Rare Diseases : 50 chondrodysplasia punctata 1, x-linked recessive (cdpx1) is a genetic disorder present from birth that affects bone and cartilage development. on x-ray, infants with cdpx1 have characteristic spots at the ends of their bones. these spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between ages 2 and 3. additional common features of cdpx1 are shortened fingers and a flattened nose. some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and intellectual delays. cdpx1 is caused by mutations in the arse gene, which is located on the x chromosome. this condition is inherited in an x-linked recessive manner and occurs almost exclusively in males. most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening. although there is no specific treatment or cure for cdpx1, there are ways to manage symptoms. a team of doctors or specialists is often needed to figure out the treatment options for each person. last updated: 8/10/2016

MalaCards based summary : Chondrodysplasia Punctata, X-Linked Recessive, also known as chondrodysplasia punctata 1, x-linked recessive, is related to chondrodysplasia punctata 1, x-linked and cervicitis, and has symptoms including anosmia, hearing impairment and cataract. An important gene associated with Chondrodysplasia Punctata, X-Linked Recessive is ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)). Affiliated tissues include bone and skin.

UniProtKB/Swiss-Prot : 66 Chondrodysplasia punctata 1, X-linked recessive: A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin.

Wikipedia : 71 X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the... more...

Description from OMIM: 302950

Related Diseases for Chondrodysplasia Punctata, X-Linked Recessive

Diseases in the X-Linked Chondrodysplasia Punctata family:

Chondrodysplasia Punctata, X-Linked Recessive Chondrodysplasia Punctata, X-Linked Dominant
Chondrodysplasia Punctata 1, X-Linked Chondrodysplasia Punctata 2, X-Linked

Diseases related to Chondrodysplasia Punctata, X-Linked Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata 1, x-linked 11.3
2 cervicitis 10.1

Symptoms & Phenotypes for Chondrodysplasia Punctata, X-Linked Recessive

Symptoms by clinical synopsis from OMIM:

302950

Clinical features from OMIM:

302950

Human phenotypes related to Chondrodysplasia Punctata, X-Linked Recessive:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 anosmia 32 HP:0000458
2 hearing impairment 32 HP:0000365
3 cataract 32 HP:0000518
4 global developmental delay 32 HP:0001263
5 depressed nasal bridge 32 HP:0005280
6 short nose 32 HP:0003196
7 microcephaly 32 HP:0000252
8 short stature 32 HP:0004322
9 ichthyosis 32 HP:0008064
10 epiphyseal stippling 32 HP:0010655
11 hypogonadism 32 HP:0000135
12 short distal phalanx of finger 32 HP:0009882
13 abnormality of the vertebral column 32 HP:0000925
14 short nasal septum 32 HP:0000420

Drugs & Therapeutics for Chondrodysplasia Punctata, X-Linked Recessive

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia Punctata, X-Linked Recessive

Genetic Tests for Chondrodysplasia Punctata, X-Linked Recessive

Genetic tests related to Chondrodysplasia Punctata, X-Linked Recessive:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 1, X-Linked Recessive 29

Anatomical Context for Chondrodysplasia Punctata, X-Linked Recessive

MalaCards organs/tissues related to Chondrodysplasia Punctata, X-Linked Recessive:

39
Bone, Skin

Publications for Chondrodysplasia Punctata, X-Linked Recessive

Variations for Chondrodysplasia Punctata, X-Linked Recessive

UniProtKB/Swiss-Prot genetic disease variations for Chondrodysplasia Punctata, X-Linked Recessive:

66
id Symbol AA change Variation ID SNP ID
1 ARSE p.Arg12Ser VAR_007307 rs122460151
2 ARSE p.Arg111Pro VAR_007308 rs122460153
3 ARSE p.Gly117Arg VAR_007309 rs122460152
4 ARSE p.Gly137Val VAR_007310 rs80338711
5 ARSE p.Gly245Arg VAR_007311 rs122460154
6 ARSE p.Cys492Tyr VAR_007312 rs122460155
7 ARSE p.Ile80Asn VAR_023570
8 ARSE p.Thr481Met VAR_023571 rs80338713
9 ARSE p.Pro578Ser VAR_023572 rs28935474

ClinVar genetic disease variations for Chondrodysplasia Punctata, X-Linked Recessive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ARSE NM_000047.2(ARSE): c.349G> A (p.Gly117Arg) single nucleotide variant Pathogenic rs122460152 GRCh37 Chromosome X, 2871265: 2871265
2 ARSE NM_000047.2(ARSE): c.332G> C (p.Arg111Pro) single nucleotide variant Pathogenic rs122460153 GRCh37 Chromosome X, 2871282: 2871282
3 ARSE NM_000047.2(ARSE): c.410G> T (p.Gly137Val) single nucleotide variant Pathogenic rs80338711 GRCh37 Chromosome X, 2871204: 2871204
4 ARSE NM_000047.2(ARSE): c.733G> C (p.Gly245Arg) single nucleotide variant Pathogenic rs122460154 GRCh37 Chromosome X, 2867466: 2867466
5 ARSE NM_000047.2(ARSE): c.1475G> A (p.Cys492Tyr) single nucleotide variant Pathogenic rs122460155 GRCh37 Chromosome X, 2853168: 2853168
6 ARSE NM_000047.2(ARSE): c.1732C> T (p.Pro578Ser) single nucleotide variant Pathogenic rs28935474 GRCh37 Chromosome X, 2852911: 2852911
7 ARSE NM_000047.2(ARSE): c.1743G> A (p.Trp581Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80338714 GRCh37 Chromosome X, 2852900: 2852900
8 ARSE NM_000047.2(ARSE): c.119T> G (p.Ile40Ser) single nucleotide variant Pathogenic rs80338710 GRCh37 Chromosome X, 2876381: 2876381
9 ARSE NM_000047.2(ARSE): c.1442C> T (p.Thr481Met) single nucleotide variant Pathogenic rs80338713 GRCh37 Chromosome X, 2853201: 2853201
10 ARSE NM_000047.2(ARSE): c.337C> T (p.Leu113Phe) single nucleotide variant Likely pathogenic rs145946864 GRCh38 Chromosome X, 2953236: 2953236

Expression for Chondrodysplasia Punctata, X-Linked Recessive

Search GEO for disease gene expression data for Chondrodysplasia Punctata, X-Linked Recessive.

Pathways for Chondrodysplasia Punctata, X-Linked Recessive

GO Terms for Chondrodysplasia Punctata, X-Linked Recessive

Sources for Chondrodysplasia Punctata, X-Linked Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....