MCID: CHN075
MIFTS: 19

Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

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 58
Brachytelephalangic Chondrodysplasia Punctata 58 60 74
Brachytelephalangic Chondrodysplasia Punctata; Bcdp 58
Bcdp 58

Characteristics:

Orphanet epidemiological data:

60
brachytelephalangic chondrodysplasia punctata
Inheritance: X-linked recessive;

Classifications:



External Ids:

OMIM 58 602497
MESH via Orphanet 46 C535941
ICD10 via Orphanet 35 Q77.3
UMLS via Orphanet 75 C1844853
Orphanet 60 ORPHA79345
MedGen 43 C1844853
UMLS 74 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 ARSE (Arylsulfatase E). 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 12.1
2 chondrodysplasia punctata syndrome 11.0
3 vitamin k deficiency bleeding 10.5
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4

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:

42
Bone, Spinal Cord

Publications for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

Articles related to Chondrodysplasia Punctata, Brachytelephalangic, Autosomal:

(show all 21)
# Title Authors Year
1
Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case Report. ( 28338574 )
2017
2
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss. ( 26526591 )
2015
3
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype: note of concern. ( 23207426 )
2013
4
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. ( 23401300 )
2013
5
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
6
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. ( 22581171 )
2012
7
Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency. ( 20177377 )
2010
8
Warfarin-induced brachytelephalangic chondrodysplasia punctata. ( 20508633 )
2010
9
Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome. ( 20523025 )
2010
10
Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis. ( 27307841 )
2010
11
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. ( 19839041 )
2009
12
Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report. ( 19856318 )
2009
13
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. ( 18348268 )
2008
14
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases. ( 16937129 )
2007
15
Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency? ( 17163521 )
2007
16
Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases. ( 12029348 )
2002
17
Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype. ( 9508239 )
1998
18
Brachytelephalangic chondrodysplasia punctata. ( 9727255 )
1998
19
Brachytelephalangic chondrodysplasia punctata in a female child. ( 9039663 )
1997
20
Brachytelephalangic chondrodysplasia punctata in an extremely premature infant. ( 7802043 )
1994
21
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 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 rs1555909467 GRCh37 Chromosome X, 2864060: 2864060
30 ARSE NM_000047.2(ARSE): c.970G> A (p.Glu324Lys) single nucleotide variant Uncertain significance rs1555909467 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, 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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