CDPX1
MCID: CHN028
MIFTS: 30

Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1)

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

Aliases & Classifications for Chondrodysplasia Punctata 1, X-Linked Recessive

MalaCards integrated aliases for Chondrodysplasia Punctata 1, X-Linked Recessive:

Name: Chondrodysplasia Punctata 1, X-Linked Recessive 57 76 53 75 29 6
Chondrodysplasia Punctata, Brachytelephalangic 57 76 53
Cdpx1 57 53 75
Chondrodysplasia Punctata, X-Linked Recessive 57 13
Chondrodysplasia Punctata Brachytelephalangic 53 75
Cpxr 57 53
Chondrodysplasia Punctata 1 X-Linked Recessive 53
Brachytelephalangic Chondrodysplasia Punctata 73
X-Linked Chondrodysplasia Punctata 1 73
Arylsulfatase E Deficiency 53

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
some patients have a contiguous gene syndrome due to loss of adjacent genes (sts, ) on xp22.3 via deletions and translocations


HPO:

32
chondrodysplasia punctata 1, x-linked recessive:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Chondrodysplasia Punctata 1, X-Linked Recessive

NIH Rare Diseases : 53 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.

MalaCards based summary : Chondrodysplasia Punctata 1, X-Linked Recessive, also known as chondrodysplasia punctata, brachytelephalangic, is related to chondrodysplasia punctata, brachytelephalangic, autosomal and x-linked chondrodysplasia punctata 1. An important gene associated with Chondrodysplasia Punctata 1, X-Linked Recessive is ARSE (Arylsulfatase E). Affiliated tissues include bone, skin and eye, and related phenotypes are hearing impairment and cataract

UniProtKB/Swiss-Prot : 75 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 : 76 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 1, X-Linked Recessive

Diseases in the Chondrodysplasia Punctata 2, X-Linked Dominant family:

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

Diseases related to Chondrodysplasia Punctata 1, X-Linked Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata, brachytelephalangic, autosomal 12.7
2 x-linked chondrodysplasia punctata 1 11.2
3 chondrodysplasia punctata syndrome 10.4
4 typhoid fever 10.2
5 legionnaires' disease 10.1
6 brainstem auditory evoked responses 10.1
7 keutel syndrome 10.0
8 relapsing polychondritis 10.0

Graphical network of the top 20 diseases related to Chondrodysplasia Punctata 1, X-Linked Recessive:



Diseases related to Chondrodysplasia Punctata 1, X-Linked Recessive

Symptoms & Phenotypes for Chondrodysplasia Punctata 1, X-Linked Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
depressed nasal bridge
short nasal septum
nasal hypoplasia

Growth Height:
short stature

Neurologic Central Nervous System:
developmental delay
anosmia (in contiguous gene syndrome patients)

Head And Neck Eyes:
cataracts

Genitourinary External Genitalia Male:
hypogonadism (in contiguous gene syndrome patients)

Skin Nails Hair Skin:
ichthyosis (in contiguous gene syndrome patients)

Head And Neck Head:
microcephaly

Skeletal Limbs:
epiphyseal stippling

Head And Neck Ears:
hearing loss

Skeletal Hands:
distal phalangeal hypoplasia

Skeletal Spine:
paravertebral stippling


Clinical features from OMIM:

302950

Human phenotypes related to Chondrodysplasia Punctata 1, X-Linked Recessive:

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

Drugs & Therapeutics for Chondrodysplasia Punctata 1, X-Linked Recessive

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia Punctata 1, X-Linked Recessive

Genetic Tests for Chondrodysplasia Punctata 1, X-Linked Recessive

Genetic tests related to Chondrodysplasia Punctata 1, X-Linked Recessive:

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

Anatomical Context for Chondrodysplasia Punctata 1, X-Linked Recessive

MalaCards organs/tissues related to Chondrodysplasia Punctata 1, X-Linked Recessive:

41
Bone, Skin, Eye, Spinal Cord

Publications for Chondrodysplasia Punctata 1, X-Linked Recessive

Articles related to Chondrodysplasia Punctata 1, X-Linked Recessive:

# Title Authors Year
1
Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review. ( 24712475 )
2013
2
Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type. ( 16179225 )
2005

Variations for Chondrodysplasia Punctata 1, X-Linked Recessive

UniProtKB/Swiss-Prot genetic disease variations for Chondrodysplasia Punctata 1, X-Linked Recessive:

75
# 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 1, X-Linked Recessive:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARSE NM_000047.2(ARSE): c.36G> C (p.Arg12Ser) single nucleotide variant Uncertain significance rs122460151 GRCh37 Chromosome X, 2876464: 2876464
2 ARSE NM_000047.2(ARSE): c.36G> C (p.Arg12Ser) single nucleotide variant Uncertain significance rs122460151 GRCh38 Chromosome X, 2958423: 2958423
3 ARSE NM_000047.2(ARSE): c.349G> A (p.Gly117Arg) single nucleotide variant Pathogenic rs122460152 GRCh37 Chromosome X, 2871265: 2871265
4 ARSE NM_000047.2(ARSE): c.349G> A (p.Gly117Arg) single nucleotide variant Pathogenic rs122460152 GRCh38 Chromosome X, 2953224: 2953224
5 ARSE NM_000047.2(ARSE): c.332G> C (p.Arg111Pro) single nucleotide variant Pathogenic rs122460153 GRCh37 Chromosome X, 2871282: 2871282
6 ARSE NM_000047.2(ARSE): c.332G> C (p.Arg111Pro) single nucleotide variant Pathogenic rs122460153 GRCh38 Chromosome X, 2953241: 2953241
7 ARSE NM_000047.2(ARSE): c.410G> T (p.Gly137Val) single nucleotide variant Pathogenic rs80338711 GRCh37 Chromosome X, 2871204: 2871204
8 ARSE NM_000047.2(ARSE): c.410G> T (p.Gly137Val) single nucleotide variant Pathogenic rs80338711 GRCh38 Chromosome X, 2953163: 2953163
9 ARSE NM_000047.2(ARSE): c.733G> C (p.Gly245Arg) single nucleotide variant Pathogenic rs122460154 GRCh37 Chromosome X, 2867466: 2867466
10 ARSE NM_000047.2(ARSE): c.733G> C (p.Gly245Arg) single nucleotide variant Pathogenic rs122460154 GRCh38 Chromosome X, 2949425: 2949425
11 ARSE NM_000047.2(ARSE): c.1475G> A (p.Cys492Tyr) single nucleotide variant Pathogenic rs122460155 GRCh37 Chromosome X, 2853168: 2853168
12 ARSE NM_000047.2(ARSE): c.1475G> A (p.Cys492Tyr) single nucleotide variant Pathogenic rs122460155 GRCh38 Chromosome X, 2935127: 2935127
13 ARSE NM_000047.2(ARSE): c.1732C> T (p.Pro578Ser) single nucleotide variant Pathogenic rs28935474 GRCh37 Chromosome X, 2852911: 2852911
14 ARSE NM_000047.2(ARSE): c.1732C> T (p.Pro578Ser) single nucleotide variant Pathogenic rs28935474 GRCh38 Chromosome X, 2934870: 2934870
15 ARSE NM_000047.2(ARSE): c.1743G> A (p.Trp581Ter) single nucleotide variant Pathogenic rs80338714 GRCh37 Chromosome X, 2852900: 2852900
16 ARSE NM_000047.2(ARSE): c.1743G> A (p.Trp581Ter) single nucleotide variant Pathogenic rs80338714 GRCh38 Chromosome X, 2934859: 2934859
17 ARSE NM_000047.2(ARSE): c.119T> G (p.Ile40Ser) single nucleotide variant Pathogenic rs80338710 GRCh37 Chromosome X, 2876381: 2876381
18 ARSE NM_000047.2(ARSE): c.119T> G (p.Ile40Ser) single nucleotide variant Pathogenic rs80338710 GRCh38 Chromosome X, 2958340: 2958340
19 ARSE NM_000047.2(ARSE): c.1442C> T (p.Thr481Met) single nucleotide variant Pathogenic rs80338713 GRCh37 Chromosome X, 2853201: 2853201
20 ARSE NM_000047.2(ARSE): c.1442C> T (p.Thr481Met) single nucleotide variant Pathogenic rs80338713 GRCh38 Chromosome X, 2935160: 2935160
21 ARSE NM_000047.2(ARSE): c.410G> C (p.Gly137Ala) single nucleotide variant Uncertain significance rs80338711 GRCh37 Chromosome X, 2871204: 2871204
22 ARSE NM_000047.2(ARSE): c.410G> C (p.Gly137Ala) single nucleotide variant Uncertain significance rs80338711 GRCh38 Chromosome X, 2953163: 2953163
23 ARSE NM_000047.2(ARSE): c.157A> G (p.Ile53Val) single nucleotide variant Benign rs61733256 GRCh37 Chromosome X, 2876343: 2876343
24 ARSE NM_000047.2(ARSE): c.157A> G (p.Ile53Val) single nucleotide variant Benign rs61733256 GRCh38 Chromosome X, 2958302: 2958302
25 ARSE NM_000047.2(ARSE): c.337C> T (p.Leu113Phe) single nucleotide variant Likely pathogenic rs145946864 GRCh37 Chromosome X, 2871277: 2871277
26 ARSE NM_000047.2(ARSE): c.337C> T (p.Leu113Phe) single nucleotide variant Likely pathogenic rs145946864 GRCh38 Chromosome X, 2953236: 2953236
27 ARSE NM_000047.2(ARSE): c.78A> G (p.Ala26=) single nucleotide variant Benign rs35718384 GRCh37 Chromosome X, 2876422: 2876422
28 ARSE NM_000047.2(ARSE): c.78A> G (p.Ala26=) single nucleotide variant Benign rs35718384 GRCh38 Chromosome X, 2958381: 2958381
29 ARSE NM_000047.2(ARSE): c.970G> A (p.Glu324Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 2864060: 2864060
30 ARSE NM_000047.2(ARSE): c.970G> A (p.Glu324Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 2946019: 2946019
31 ARSE NM_001282628.1(ARSE): c.542G> A (p.Ser181Asn) single nucleotide variant Likely benign rs41310272 GRCh38 Chromosome X, 2949691: 2949691
32 ARSE NM_001282628.1(ARSE): c.542G> A (p.Ser181Asn) single nucleotide variant Likely benign rs41310272 GRCh37 Chromosome X, 2867732: 2867732
33 ARSE NM_001282631.1(ARSE): c.1054G> A (p.Gly352Arg) single nucleotide variant Likely pathogenic rs201424543 GRCh38 Chromosome X, 2938195: 2938195
34 ARSE NM_001282631.1(ARSE): c.1054G> A (p.Gly352Arg) single nucleotide variant Likely pathogenic rs201424543 GRCh37 Chromosome X, 2856236: 2856236
35 ARSE NM_000047.2(ARSE): c.1694T> G (p.Ile565Ser) single nucleotide variant Uncertain significance rs142375403 GRCh37 Chromosome X, 2852949: 2852949
36 ARSE NM_000047.2(ARSE): c.1694T> G (p.Ile565Ser) single nucleotide variant Uncertain significance rs142375403 GRCh38 Chromosome X, 2934908: 2934908

Expression for Chondrodysplasia Punctata 1, X-Linked Recessive

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Pathways for Chondrodysplasia Punctata 1, X-Linked Recessive

GO Terms for Chondrodysplasia Punctata 1, X-Linked Recessive

Sources for Chondrodysplasia Punctata 1, X-Linked Recessive

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