Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1)

Categories: Bone diseases, Ear 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 73 20 72 6
Chondrodysplasia Punctata, Brachytelephalangic 57 73 20
Cdpx1 57 20 72
Chondrodysplasia Punctata, X-Linked Recessive 57 13
Chondrodysplasia Punctata Brachytelephalangic 20 72
Cpxr 57 20
Chondrodysplasia Punctata, Type 1, X-Linked Recessive 39
Chondrodysplasia Punctata 1 X-Linked Recessive 20
Brachytelephalangic Chondrodysplasia Punctata 70
X-Linked Chondrodysplasia Punctata 1 70
Arylsulfatase E Deficiency 20



57 (Updated 20-May-2021)
x-linked recessive

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


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


Summaries for Chondrodysplasia Punctata 1, X-Linked Recessive

GARD : 20 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 ARSL (Arylsulfatase L). Affiliated tissues include eye and spinal cord, and related phenotypes are hearing impairment and cataract

UniProtKB/Swiss-Prot : 72 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 : 73 X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the... more...

More information 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:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata, brachytelephalangic, autosomal 11.4
2 x-linked chondrodysplasia punctata 1 11.0
3 chromosomal triplication 10.2
4 chondrodysplasia punctata syndrome 10.2
5 helix syndrome 10.1
6 typhoid fever 10.1
7 keutel syndrome 10.0
8 autosomal recessive disease 10.0
9 relapsing polychondritis 10.0
10 spinal stenosis 9.9
11 polyhydramnios 9.9
12 papillomatosis, confluent and reticulated 9.9
13 salmonellosis 9.9
14 chancroid 9.9
15 pleuropneumonia 9.9

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

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

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 cataract 31 HP:0000518
3 global developmental delay 31 HP:0001263
4 depressed nasal bridge 31 HP:0005280
5 short nose 31 HP:0003196
6 microcephaly 31 HP:0000252
7 short stature 31 HP:0004322
8 ichthyosis 31 HP:0008064
9 epiphyseal stippling 31 HP:0010655
10 anosmia 31 HP:0000458
11 abnormality of the vertebral column 31 HP:0000925
12 short distal phalanx of finger 31 HP:0009882
13 hypogonadism 31 HP:0000135
14 short nasal septum 31 HP:0000420

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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:

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

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

Head And Neck Head:

Skeletal Limbs:
epiphyseal stippling

Head And Neck Ears:
hearing loss

Skeletal Hands:
distal phalangeal hypoplasia

Skeletal Spine:
paravertebral stippling

Clinical features from OMIM®:

302950 (Updated 20-May-2021)

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

Anatomical Context for Chondrodysplasia Punctata 1, X-Linked Recessive

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

Eye, Spinal Cord

Publications for Chondrodysplasia Punctata 1, X-Linked Recessive

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

(show all 42)
# Title Authors PMID Year
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies. 61 57 6
23470839 2013
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. 61 6 57
12567415 2003
Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata. 6 57
9863597 1998
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. 6 57
7720070 1995
Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form. 57 6
2722194 1989
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. 57 61
18348268 2008
Chondrodysplasia punctata in siblings and maternal lupus erythematosus. 57
15521983 2004
Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. 57
11260213 2001
Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence? 57
9719382 1998
Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations. 57
9719383 1998
Chondrodysplasia punctata and maternal systemic lupus erythematosus. 57
9719384 1998
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. 6
9497243 1998
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. 6
9409863 1997
A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata. 57
8281147 1993
Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders. 57
1642270 1992
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. 57
1785631 1991
X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus. 57
1937466 1991
An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature. 57
2370057 1990
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 57
2602357 1989
Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion. 57
2750777 1989
Chondrodysplasia punctata with X;Y translocation. 57
3417299 1988
Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. 57
6482910 1984
X-linked dominant inherited diseases with lethality in hemizygous males. 57
6873941 1983
Chondrodysplasia punctata-23 cases of a mild and relatively common variety. 57
993917 1976
Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. II. Investigations into the nature and mechanism of the XO production. 57
4435359 1974
Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. I. A preliminary report of breeding experiments. 57
4588955 1973
Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation. 61
31337364 2019
Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata. 61
30809406 2019
Surgical management of cervical spine deformity in chondrodysplasia punctata. 61
28799855 2017
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss. 61
26526591 2015
Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene. 61
23462608 2013
A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome. 61
23091330 2012
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. 61
22581171 2012
Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1). 61
20598055 2010
Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome. 61
20523025 2010
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. 61
19839041 2009
Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata. 61
19238369 2009
Chondrodysplasia Punctata 1, X-Linked 61
20301713 2008
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases. 61
16937129 2007
Refinement of the locus for X-linked recessive chondrodysplasia punctata. 61
7759082 1995
High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). 61
7601447 1995
Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus. 61
8418639 1993

Variations for Chondrodysplasia Punctata 1, X-Linked Recessive

ClinVar genetic disease variations for Chondrodysplasia Punctata 1, X-Linked Recessive:

6 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARSL NM_000047.2(ARSL):c.349G>A (p.Gly117Arg) SNV Pathogenic 11523 rs122460152 GRCh37: X:2871265-2871265
GRCh38: X:2953224-2953224
2 ARSL NM_000047.2(ARSL):c.332G>C (p.Arg111Pro) SNV Pathogenic 11524 rs122460153 GRCh37: X:2871282-2871282
GRCh38: X:2953241-2953241
3 ARSL NM_000047.2(ARSL):c.410G>T (p.Gly137Val) SNV Pathogenic 11525 rs80338711 GRCh37: X:2871204-2871204
GRCh38: X:2953163-2953163
4 ARSL NM_000047.2(ARSL):c.733G>C (p.Gly245Arg) SNV Pathogenic 11526 rs122460154 GRCh37: X:2867466-2867466
GRCh38: X:2949425-2949425
5 ARSL NM_000047.2(ARSL):c.1475G>A (p.Cys492Tyr) SNV Pathogenic 11527 rs122460155 GRCh37: X:2853168-2853168
GRCh38: X:2935127-2935127
6 ARSL NM_000047.2(ARSL):c.1732C>T (p.Pro578Ser) SNV Pathogenic 11528 rs28935474 GRCh37: X:2852911-2852911
GRCh38: X:2934870-2934870
7 ARSL NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter) SNV Pathogenic 11529 rs80338714 GRCh37: X:2852900-2852900
GRCh38: X:2934859-2934859
8 ARSL NM_000047.2(ARSL):c.119T>G (p.Ile40Ser) SNV Pathogenic 21031 rs80338710 GRCh37: X:2876381-2876381
GRCh38: X:2958340-2958340
9 ARSL NM_000047.2(ARSL):c.1442C>T (p.Thr481Met) SNV Pathogenic 21032 rs80338713 GRCh37: X:2853201-2853201
GRCh38: X:2935160-2935160
10 ARSL NC_000023.11:g.(?_2934812)_(2960420_?)del Deletion Pathogenic 657917 GRCh37: X:2852853-2878461
GRCh38: X:2934812-2960420
11 ARSL NC_000023.11:g.(?_2934812)_(2958455_?)del Deletion Pathogenic 832204 GRCh37: X:2852853-2876496
12 ARSL NM_000047.3(ARSL):c.1158del (p.Ile387fs) Deletion Pathogenic 851645 GRCh37: X:2856267-2856267
GRCh38: X:2938226-2938226
13 ARSL NM_000047.2(ARSL):c.337C>T (p.Leu113Phe) SNV Likely pathogenic 157732 rs145946864 GRCh37: X:2871277-2871277
GRCh38: X:2953236-2953236
14 ARSL NM_000047.2(ARSL):c.1189G>A (p.Gly397Arg) SNV Conflicting interpretations of pathogenicity 522724 rs201424543 GRCh37: X:2856236-2856236
GRCh38: X:2938195-2938195
15 ARSL NM_000047.2(ARSL):c.1694T>G (p.Ile565Ser) SNV Conflicting interpretations of pathogenicity 547861 rs142375403 GRCh37: X:2852949-2852949
GRCh38: X:2934908-2934908
16 ARSL NM_000047.2(ARSL):c.1239C>A (p.Asp413Glu) SNV Uncertain significance 643307 rs142382411 GRCh37: X:2856186-2856186
GRCh38: X:2938145-2938145
17 ARSL NM_000047.3(ARSL):c.684C>G (p.Ile228Met) SNV Uncertain significance 811748 rs1359359899 GRCh37: X:2867515-2867515
GRCh38: X:2949474-2949474
18 ARSL NM_000047.3(ARSL):c.898G>A (p.Val300Ile) SNV Uncertain significance 816918 rs752354785 GRCh37: X:2864132-2864132
GRCh38: X:2946091-2946091
19 ARSL NM_000047.2(ARSL):c.970G>A (p.Glu324Lys) SNV Uncertain significance 465028 rs1555909467 GRCh37: X:2864060-2864060
GRCh38: X:2946019-2946019
20 ARSL NM_000047.3(ARSL):c.1022G>T (p.Gly341Val) SNV Uncertain significance 976306 GRCh37: X:2861210-2861210
GRCh38: X:2943169-2943169
21 ARSL NM_000047.3(ARSL):c.569G>A (p.Arg190His) SNV Uncertain significance 1001354 GRCh37: X:2867630-2867630
GRCh38: X:2949589-2949589
22 ARSL NM_000047.3(ARSL):c.1672C>A (p.Gln558Lys) SNV Uncertain significance 917686 GRCh37: X:2852971-2852971
GRCh38: X:2934930-2934930
23 ARSL NM_000047.3(ARSL):c.1422G>C (p.Met474Ile) SNV Uncertain significance 1017388 GRCh37: X:2853221-2853221
GRCh38: X:2935180-2935180
24 ARSL NM_000047.2(ARSL):c.752C>T (p.Ala251Val) SNV Uncertain significance 373588 rs368737099 GRCh37: X:2867447-2867447
GRCh38: X:2949406-2949406
25 ARSL NM_000047.3(ARSL):c.694C>G (p.Leu232Val) SNV Uncertain significance 1044333 GRCh37: X:2867505-2867505
GRCh38: X:2949464-2949464
26 ARSL NM_000047.3(ARSL):c.1022G>C (p.Gly341Ala) SNV Uncertain significance 1054149 GRCh37: X:2861210-2861210
GRCh38: X:2943169-2943169
27 ARSL NM_000047.3(ARSL):c.113C>T (p.Pro38Leu) SNV Uncertain significance 1054704 GRCh37: X:2876387-2876387
GRCh38: X:2958346-2958346
28 ARSL NM_000047.2(ARSL):c.410G>C (p.Gly137Ala) SNV Uncertain significance 21033 rs80338711 GRCh37: X:2871204-2871204
GRCh38: X:2953163-2953163
29 ARSL NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys) SNV Uncertain significance 838161 GRCh37: X:2867687-2867687
GRCh38: X:2949646-2949646
30 ARSL NM_000047.2(ARSL):c.36G>C (p.Arg12Ser) SNV Uncertain significance 11522 rs122460151 GRCh37: X:2876464-2876464
GRCh38: X:2958423-2958423
31 ARSL NM_000047.2(ARSL):c.467G>A (p.Ser156Asn) SNV Likely benign 518419 rs41310272 GRCh37: X:2867732-2867732
GRCh38: X:2949691-2949691
32 ARSL NM_000047.2(ARSL):c.157A>G (p.Ile53Val) SNV Benign 157729 rs61733256 GRCh37: X:2876343-2876343
GRCh38: X:2958302-2958302
33 ARSL NM_000047.2(ARSL):c.78A>G (p.Ala26=) SNV Benign 157737 rs35718384 GRCh37: X:2876422-2876422
GRCh38: X:2958381-2958381
34 ARSL NM_000047.3(ARSL):c.897C>T (p.His299=) SNV Benign 811901 rs148471739 GRCh37: X:2864133-2864133
GRCh38: X:2946092-2946092
35 ARSL NM_000047.2(ARSL):c.430+8C>T SNV Benign 513003 rs56393981 GRCh37: X:2871176-2871176
GRCh38: X:2953135-2953135
36 ARSL NM_000047.2(ARSL):c.548G>A (p.Arg183His) SNV Benign 157734 rs34412194 GRCh37: X:2867651-2867651
GRCh38: X:2949610-2949610
37 ARSL NM_000047.3(ARSL):c.840G>A (p.Ala280=) SNV Benign 702442 rs772678789 GRCh37: X:2867359-2867359
GRCh38: X:2949318-2949318
38 ARSL NM_000047.3(ARSL):c.1408G>C (p.Asp470His) SNV Benign 703344 rs61743737 GRCh37: X:2854786-2854786
GRCh38: X:2936745-2936745
39 ARSL NM_000047.3(ARSL):c.1289+9C>T SNV Benign 703374 rs375386476 GRCh37: X:2856127-2856127
GRCh38: X:2938086-2938086
40 ARSL NM_000047.3(ARSL):c.714C>T (p.Leu238=) SNV Benign 766781 rs34795651 GRCh37: X:2867485-2867485
GRCh38: X:2949444-2949444
41 ARSL NM_000047.3(ARSL):c.1386C>T (p.His462=) SNV Benign 772077 rs183018622 GRCh37: X:2854808-2854808
GRCh38: X:2936767-2936767
42 ARSL NM_000047.3(ARSL):c.220G>A (p.Val74Met) SNV Benign 772428 rs150756612 GRCh37: X:2873544-2873544
GRCh38: X:2955503-2955503
43 ARSL NM_000047.3(ARSL):c.23+5G>C SNV Benign 772566 rs200062390 GRCh37: X:2878414-2878414
GRCh38: X:2960373-2960373
44 ARSL NM_000047.2(ARSL):c.775C>G (p.His259Asp) SNV Benign 235491 rs138149353 GRCh37: X:2867424-2867424
GRCh38: X:2949383-2949383

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

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

Expression for Chondrodysplasia Punctata 1, X-Linked Recessive

Search GEO for disease gene expression data for Chondrodysplasia Punctata 1, X-Linked Recessive.

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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
Loading form....