BCDP
MCID: CHN075
MIFTS: 24

Chondrodysplasia Punctata, Brachytelephalangic, Autosomal (BCDP)

Categories: Bone diseases, Fetal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

MalaCards integrated aliases for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal:

Name: Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 57
Brachytelephalangic Chondrodysplasia Punctata 57 59 72
Brachytelephalangic Chondrodysplasia Punctata; Bcdp 57
Bcdp 57

Characteristics:

Orphanet epidemiological data:

59
brachytelephalangic chondrodysplasia punctata
Inheritance: X-linked recessive;

Classifications:



External Ids:

OMIM 57 602497
MESH via Orphanet 45 C535941
ICD10 via Orphanet 34 Q77.3
UMLS via Orphanet 73 C1844853
Orphanet 59 ORPHA79345
MedGen 42 C1844853
UMLS 72 C1844853

Summaries for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

MalaCards based summary : Chondrodysplasia Punctata, Brachytelephalangic, Autosomal, also known as brachytelephalangic chondrodysplasia punctata, is related to chondrodysplasia punctata 1, x-linked recessive and chondrodysplasia punctata syndrome. An important gene associated with Chondrodysplasia Punctata, Brachytelephalangic, Autosomal is ARSL (Arylsulfatase L). Affiliated tissues include bone and spinal cord.

More information from OMIM: 602497

Related Diseases for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

Diseases related to Chondrodysplasia Punctata, Brachytelephalangic, Autosomal via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata 1, x-linked recessive 12.3
2 chondrodysplasia punctata syndrome 11.1
3 x-linked chondrodysplasia punctata 1 10.8
4 vitamin k deficiency bleeding 10.7
5 autoimmune disease 10.5
6 optic nerve hypoplasia, bilateral 10.4
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
8 brachydactyly 10.4
9 quadriplegia 10.4
10 dysostosis 10.4
11 tracheal stenosis 10.4
12 polyhydramnios 10.4
13 skeletal dysplasias 10.4

Graphical network of the top 20 diseases related to Chondrodysplasia Punctata, Brachytelephalangic, Autosomal:



Diseases related to Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

Symptoms & Phenotypes for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

Clinical features from OMIM:

602497

Drugs & Therapeutics for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

Genetic Tests for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

Anatomical Context for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

MalaCards organs/tissues related to Chondrodysplasia Punctata, Brachytelephalangic, Autosomal:

41
Bone, Spinal Cord

Publications for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

Articles related to Chondrodysplasia Punctata, Brachytelephalangic, Autosomal:

(show all 35)
# Title Authors PMID Year
1
Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system. 38 8
12949976 2003
2
Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype. 38 8
9508239 1998
3
Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form. 38 71
2722194 1989
4
Chondrodysplasia Punctata 1, X-Linked 71
20301713 2008
5
Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review. 8
12794700 2003
6
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. 71
12567415 2003
7
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. 71
9497243 1998
8
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. 71
9409863 1997
9
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. 71
7720070 1995
10
Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata. 38
30809406 2019
11
Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case Report. 38
28338574 2017
12
Occipitocervical Fusion for Severe Atlantoaxial Dislocation in an Underdeveloped Child with Chondrodysplasia Punctata: A Case Report. 38
29244697 2017
13
Effect of Intrathecal Baclofen on Delayed-Onset Paroxysmal Dystonia due to Compression Injury Resulting From Congenital and Progressive Spinal Bone Deformities in Chondrodysplasia Punctata. 38
26777981 2016
14
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. 38
25646736 2015
15
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss. 38
26526591 2015
16
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies. 38
23470839 2013
17
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. 38
23401300 2013
18
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype: note of concern. 38
23207426 2013
19
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. 38
22581171 2012
20
Warfarin-induced brachytelephalangic chondrodysplasia punctata. 38
20508633 2010
21
Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency. 38
20177377 2010
22
Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome. 38
20523025 2010
23
Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis. 38
27307841 2010
24
Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report. 38
19856318 2009
25
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. 38
19839041 2009
26
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. 38
18348268 2008
27
Cervical spine stenosis in chondrodysplasia punctata. 38
17909344 2007
28
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases. 38
16937129 2007
29
Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency? 38
17163521 2007
30
Chondrodysplasia punctata: case report and review of audiological and ENT features. 38
16359148 2006
31
Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases. 38
12029348 2002
32
Brachytelephalangic chondrodysplasia punctata. 38
9727255 1998
33
Brachytelephalangic chondrodysplasia punctata in a female child. 38
9039663 1997
34
Brachytelephalangic chondrodysplasia punctata in an extremely premature infant. 38
7802043 1994
35
Chondrodysplasia punctata: another possible X-linked recessive case. 38
1481849 1992

Variations for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

ClinVar genetic disease variations for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal:

6 (show all 20)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ARSL NM_000047.2(ARSL): c.349G> A (p.Gly117Arg) single nucleotide variant Pathogenic rs122460152 X:2871265-2871265 X:2953224-2953224
2 ARSL NM_000047.2(ARSL): c.332G> C (p.Arg111Pro) single nucleotide variant Pathogenic rs122460153 X:2871282-2871282 X:2953241-2953241
3 ARSL NM_000047.2(ARSL): c.410G> T (p.Gly137Val) single nucleotide variant Pathogenic rs80338711 X:2871204-2871204 X:2953163-2953163
4 ARSL NM_000047.2(ARSL): c.733G> C (p.Gly245Arg) single nucleotide variant Pathogenic rs122460154 X:2867466-2867466 X:2949425-2949425
5 ARSL NM_000047.2(ARSL): c.1475G> A (p.Cys492Tyr) single nucleotide variant Pathogenic rs122460155 X:2853168-2853168 X:2935127-2935127
6 ARSL NM_000047.2(ARSL): c.1732C> T (p.Pro578Ser) single nucleotide variant Pathogenic rs28935474 X:2852911-2852911 X:2934870-2934870
7 ARSL NM_000047.2(ARSL): c.1743G> A (p.Trp581Ter) single nucleotide variant Pathogenic rs80338714 X:2852900-2852900 X:2934859-2934859
8 ARSL NM_000047.2(ARSL): c.119T> G (p.Ile40Ser) single nucleotide variant Pathogenic rs80338710 X:2876381-2876381 X:2958340-2958340
9 ARSL NM_000047.2(ARSL): c.1442C> T (p.Thr481Met) single nucleotide variant Pathogenic rs80338713 X:2853201-2853201 X:2935160-2935160
10 ARSL NC_000023.10: g.(?_2852853)_(2878461_?)del deletion Pathogenic X:2852853-2878461 X:2934812-2960420
11 ARSL NM_000047.2(ARSL): c.337C> T (p.Leu113Phe) single nucleotide variant Likely pathogenic rs145946864 X:2871277-2871277 X:2953236-2953236
12 ARSL NM_000047.2(ARSL): c.1189G> A (p.Gly397Arg) single nucleotide variant Likely pathogenic rs201424543 X:2856236-2856236 X:2938195-2938195
13 ARSL NM_000047.2(ARSL): c.1694T> G (p.Ile565Ser) single nucleotide variant Uncertain significance rs142375403 X:2852949-2852949 X:2934908-2934908
14 ARSL NM_000047.2(ARSL): c.36G> C (p.Arg12Ser) single nucleotide variant Uncertain significance rs122460151 X:2876464-2876464 X:2958423-2958423
15 ARSL NM_000047.2(ARSL): c.970G> A (p.Glu324Lys) single nucleotide variant Uncertain significance rs1555909467 X:2864060-2864060 X:2946019-2946019
16 ARSL NM_000047.2(ARSL): c.1239C> A (p.Asp413Glu) single nucleotide variant Uncertain significance X:2856186-2856186 X:2938145-2938145
17 ARSL NM_000047.2(ARSL): c.410G> C (p.Gly137Ala) single nucleotide variant Uncertain significance rs80338711 X:2871204-2871204 X:2953163-2953163
18 ARSL NM_000047.2(ARSL): c.467G> A (p.Ser156Asn) single nucleotide variant Likely benign rs41310272 X:2867732-2867732 X:2949691-2949691
19 ARSL NM_000047.2(ARSL): c.78A> G (p.Ala26=) single nucleotide variant Benign rs35718384 X:2876422-2876422 X:2958381-2958381
20 ARSL NM_000047.2(ARSL): c.157A> G (p.Ile53Val) single nucleotide variant Benign rs61733256 X:2876343-2876343 X:2958302-2958302

Expression for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

Search GEO for disease gene expression data for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal.

Pathways for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

GO Terms for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

Sources for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

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73 UMLS via Orphanet
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