MCID: CHN075
MIFTS: 20

Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

Categories: Bone diseases, Metabolic diseases, Fetal 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 73
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
Orphanet 59 ORPHA79345
MESH via Orphanet 45 C535941
UMLS via Orphanet 74 C1844853
ICD10 via Orphanet 34 Q77.3
MedGen 42 C1844853
UMLS 73 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 1, x-linked. An important gene associated with Chondrodysplasia Punctata, Brachytelephalangic, Autosomal is ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)). Affiliated tissues include bone and spinal cord.

Description 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:

# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata 1, x-linked recessive 11.6
2 chondrodysplasia punctata 1, x-linked 11.3
3 chondrodysplasia punctata syndrome 10.9
4 vitamin k deficiency hemorrhagic disease 10.4
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
6 cervicitis 10.2

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 20)
# Title Authors Year
1
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss. ( 26526591 )
2015
2
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies. ( 23470839 )
2013
3
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. ( 23401300 )
2013
4
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype: note of concern. ( 23207426 )
2013
5
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. ( 22581171 )
2012
6
Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome. ( 20523025 )
2010
7
Warfarin-induced brachytelephalangic chondrodysplasia punctata. ( 20508633 )
2010
8
Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis. ( 27307841 )
2010
9
Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency. ( 20177377 )
2010
10
Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report. ( 19856318 )
2009
11
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. ( 19839041 )
2009
12
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. ( 18348268 )
2008
13
Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency? ( 17163521 )
2007
14
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases. ( 16937129 )
2007
15
Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases. ( 12029348 )
2002
16
Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype. ( 9508239 )
1998
17
Brachytelephalangic chondrodysplasia punctata. ( 9727255 )
1998
18
Brachytelephalangic chondrodysplasia punctata in a female child. ( 9039663 )
1997
19
Brachytelephalangic chondrodysplasia punctata in an extremely premature infant. ( 7802043 )
1994
20
Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form. ( 2722194 )
1989

Variations for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

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

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

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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