DTD
MCID: DST005
MIFTS: 53

Diastrophic Dysplasia (DTD) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Diastrophic Dysplasia

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Aliases & Descriptions for Diastrophic Dysplasia:

Name: Diastrophic Dysplasia 52 11 23 48 24 25 54 70 27 12 50 39 13 68
Diastrophic Dwarfism 23 48 24 25 54 70
Dtd 48 24 25 70
 
Dd 48 70
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 52

Characteristics:

Orphanet epidemiological data:

54
diastrophic dysplasia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
diastrophic dysplasia:
Inheritance: autosomal recessive inheritance

GeneReviews:

23
Penetrance: for pathogenic variants in slc26a2, penetrance is complete...


Classifications:



External Ids:

OMIM52 222600
Disease Ontology11 DOID:14687
ICD1030 Q77.5
SNOMED-CT62 58561002
Orphanet54 ORPHA628
UMLS via Orphanet69 C0220726
ICD10 via Orphanet31 Q77.5

Summaries for Diastrophic Dysplasia

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NIH Rare Diseases:48 Diastrophic dysplasia is a disorder of cartilage and bone development. diastrophic dysplasia is characterized by shortened arms and legs, spinal deformities, hitchhiker thumbs, joint contractures, and joint pain (osteoarthritis). joint contractures and spinal deformity tend to worsen with age. mental development and intelligence are usually normal. occasionally, children with diastrophic dysplasia die in infancy due to respiratory complications such as pneumonia. management consists of maintaining joint position and mobility through physical therapy and casting. surgical correction of clubfoot may be necessary. arthroplasty of the hips and knees to decrease pain and increase motility may also be indicated. indications for surgical correction of  scoliosis have not yet been established. diastrophic dysplasia is caused by mutations in the slc26a2 gene and is inherited in an autosomal recessive manner. last updated: 6/22/2015

MalaCards based summary: Diastrophic Dysplasia, also known as diastrophic dwarfism, is related to cerebral palsy and denys-drash syndrome, and has symptoms including Array, Array and Array. An important gene associated with Diastrophic Dysplasia is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways are Cell adhesion_ECM remodeling and PI3K-Akt signaling pathway. Affiliated tissues include bone, skin and spinal cord, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

Disease Ontology:11 An osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the SLC26A2 gene which results in short limb dwarfism.

Genetics Home Reference:25 Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities called contractures, which restrict movement. These joint problems often make it difficult to walk and tend to worsen with age. Additional features of diastrophic dysplasia include an inward- and upward-turning foot (clubfoot), progressive abnormal curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (a cleft palate). Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears.

UniProtKB/Swiss-Prot:70 Diastrophic dysplasia: An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities.

Wikipedia:71 Diastrophic dysplasia (DTD) is an autosomal recessivedysplasia which affects cartilage and bone... more...

Description from OMIM:52 222600

GeneReviews for NBK1350

Related Diseases for Diastrophic Dysplasia

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Diseases related to Diastrophic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral palsy29.8COL2A1, COMP
2denys-drash syndrome11.7
3parkinsonism-dystonia, infantile11.5
4clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly11.0
5dentin dysplasia, type ii10.9
6dentin dysplasia, type i, with microdontia and misshapen teeth10.9
7mohr-tranebjaerg syndrome10.9
8dissociative disorder10.8
9darier disease10.7
10dentin dysplasia10.7
11dwarfism10.3
12coronary heart disease 410.2COL2A1, SLC26A2
13acromesomelic dysplasia10.2COL2A1, SLC26A2
14combined oxidative phosphorylation deficiency 210.2COL2A1, SLC26A2
15stargardt disease10.2SLC26A2, SLC26A3
16t cell immunodeficiency primary10.2BMP2, COL2A1
17autosomal dominant nonsyndromic deafness 6810.1SLC26A2, SLC26A3
18atelosteogenesis10.1
19cervicitis10.1
20splenic flexure cancer10.1BMP2, SLC26A2
21hemolytic anemia due to glutathione synthetase deficiency10.1COL2A1, COMP
22chromosomal disease10.1BMP2, COL2A1
23vitelliform macular dystrophy10.1COMP, SLC26A2
24pityriasis rubra pilaris10.1COMP, SLC26A2
25epiphyseal dysplasia, multiple, with myopia and deafness10.1COL2A1, COMP
26vulvovaginitis10.1COL2A1, SLC26A2
27robinow syndrome, autosomal dominant 110.1SLC26A3, SLC26A5
28albright's hereditary osteodystrophy10.1COL2A1, COMP
29immunodeficiency 3010.1COMP, SLC26A2
30smed strudwick type10.1COL2A1, COMP
31echinostomiasis10.0SLC26A2, SLC26A4
32physical disorder10.0BMP2, COL2A1
33gingival fibromatosis10.0COMP, SLC26A2
34sp7-related osteogenesis imperfecta10.0COL2A1, COMP, SLC26A2
35neuropathy, distal hereditary motor, type iia10.0COL2A1, COMP, SLC26A2
36intermediate uveitis10.0COL2A1, COMP, SLC26A2
37slti salem syndrome10.0COL2A1, COMP, SLC26A2
38bone structure disease10.0COL2A1, COMP, SLC26A2
39coronary artery disease10.0
40artery disease10.0
41pancreas adenocarcinoma9.9BMP2, COL2A1
42pseudoachondroplasia9.9
43desbuquois dysplasia9.9
44achondrogenesis9.9
45otosclerosis9.9
46multiple epiphyseal dysplasia9.9
47endotheliitis9.9
48erythrocytosis due to bisphosphoglycerate mutase deficiency9.9SLC26A2, SLC26A4
49myocardial infarction9.8
50obesity9.8

Graphical network of the top 20 diseases related to Diastrophic Dysplasia:



Diseases related to diastrophic dysplasia

Symptoms & Phenotypes for Diastrophic Dysplasia

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Symptoms by clinical synopsis from OMIM:

222600

Clinical features from OMIM:

222600

Human phenotypes related to Diastrophic Dysplasia:

 54 64 (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Occasional (29-5%) HP:0000028
2 cleft palate64 54 Frequent (79-30%) HP:0000175
3 macrocephaly64 54 Very frequent (99-80%) HP:0000256
4 full cheeks64 54 Frequent (79-30%) HP:0000293
5 hypertelorism64 54 Frequent (79-30%) HP:0000316
6 micrognathia64 54 Occasional (29-5%) HP:0000347
7 hearing impairment64 54 Occasional (29-5%) HP:0000365
8 low-set, posteriorly rotated ears64 54 Frequent (79-30%) HP:0000368
9 overfolded helix64 54 Frequent (79-30%) HP:0000396
10 blue sclerae64 54 Frequent (79-30%) HP:0000592
11 abnormality of the ribs64 54 Very frequent (99-80%) HP:0000772
12 abnormality of the clavicle64 54 Very frequent (99-80%) HP:0000889
13 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
14 hyperextensible skin64 54 Occasional (29-5%) HP:0000974
15 abnormality of the metacarpal bones64 54 Very frequent (99-80%) HP:0001163
16 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
17 joint dislocation54 Frequent (79-30%)
18 hip dysplasia64 54 Frequent (79-30%) HP:0001385
19 joint stiffness64 54 Frequent (79-30%) HP:0001387
20 intrauterine growth retardation64 54 Very frequent (99-80%) HP:0001511
21 respiratory insufficiency64 54 Frequent (79-30%) HP:0002093
22 recurrent respiratory infections64 54 Frequent (79-30%) HP:0002205
23 cerebral calcification64 54 Occasional (29-5%) HP:0002514
24 scoliosis64 54 Very frequent (99-80%) HP:0002650
25 kyphosis64 54 Frequent (79-30%) HP:0002808
26 micromelia64 54 Very frequent (99-80%) HP:0002983
27 elbow dislocation64 54 Occasional (29-5%) HP:0003042
28 abnormal form of the vertebral bodies64 54 Very frequent (99-80%) HP:0003312
29 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
30 joint hyperflexibility64 54 Occasional (29-5%) HP:0005692
31 abnormality of epiphysis morphology64 54 Very frequent (99-80%) HP:0005930
32 bowing of the long bones64 54 Very frequent (99-80%) HP:0006487
33 hypoplastic cervical vertebrae64 54 Very frequent (99-80%) HP:0008434
34 neonatal short-limb short stature64 54 Very frequent (99-80%) HP:0008921
35 short finger64 54 Very frequent (99-80%) HP:0009381
36 ulnar deviation of finger64 54 Frequent (79-30%) HP:0009465
37 proximal placement of thumb64 54 Very frequent (99-80%) HP:0009623
38 large earlobe64 54 Very frequent (99-80%) HP:0009748
39 symphalangism affecting the phalanges of the hand64 54 Very frequent (99-80%) HP:0009773
40 increased bone mineral density64 54 Very frequent (99-80%) HP:0011001
41 midface retrusion64 54 Very frequent (99-80%) HP:0011800
42 camptodactyly of finger64 54 Frequent (79-30%) HP:0100490
43 visceral angiomatosis64 54 Occasional (29-5%) HP:0100761
44 glabellar hemangioma64 HP:0001076
45 hitchhiker thumb64 HP:0001234
46 hoarse voice64 HP:0001609
47 talipes equinovarus64 HP:0001762
48 spinal cord compression64 HP:0002176
49 kyphoscoliosis64 HP:0002751
50 cervical kyphosis64 HP:0002947
51 short long bone64 HP:0003026
52 flattened epiphysis64 HP:0003071
53 hip contracture64 HP:0003273
54 laryngotracheal stenosis64 HP:0004894
55 costal cartilage calcification64 HP:0006646
56 hypertrophic auricular cartilage64 HP:0008608
57 disproportionate short-limb short stature64 HP:0008873
58 irregular epiphyses64 HP:0010582
59 cystic lesions of the pinnae64 HP:0010723

MGI Mouse Phenotypes related to Diastrophic Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2BMP2, COL2A1, FN1, SLC26A2
2MP:00053778.9BMP2, COL2A1, SLC26A4, SLC26A5
3MP:00053718.7BMP2, COL2A1, COMP, FN1, SLC26A2
4MP:00053787.7BMP2, COL2A1, COMP, FN1, SLC26A2, SLC26A3
5MP:00053907.4BMP2, COL2A1, COMP, FN1, SLC26A2, SLC26A4

Drugs & Therapeutics for Diastrophic Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Diastrophic Dysplasia


Cochrane evidence based reviews: diastrophic dysplasia

Genetic Tests for Diastrophic Dysplasia

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Genetic tests related to Diastrophic Dysplasia:

id Genetic test Affiliating Genes
1 Diastrophic Dysplasia27 24 SLC26A2

Anatomical Context for Diastrophic Dysplasia

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MalaCards organs/tissues related to Diastrophic Dysplasia:

36
Bone, Skin, Spinal cord, Adrenal cortex, Cortex, Lung

Publications for Diastrophic Dysplasia

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Articles related to Diastrophic Dysplasia:

(show top 50)    (show all 109)
idTitleAuthorsYear
1
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia. (26206888)
2015
2
Gait Pattern and Lower Extremity Alignment in Children With Diastrophic Dysplasia. (26296216)
2015
3
Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up. (26692703)
2015
4
Management of a Parturient with Diastrophic Dysplasia. (26125691)
2015
5
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene. (26077908)
2015
6
Diastrophic dysplasia - variant. (24632705)
2014
7
Corrections of lower limb deformities in patients with diastrophic dysplasia. (25430710)
2014
8
Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion. (24591336)
2014
9
Not just cerebral palsy: diastrophic dysplasia presenting as spastic quadriparesis. (24679608)
2014
10
Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland. (23389768)
2013
11
Diastrophic dysplasia: prenatal diagnosis and review of the literature. (23657516)
2013
12
A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. (23840040)
2013
13
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. (21155763)
2011
14
Prevention of auricular deformity in children with diastrophic dysplasia. (21414669)
2011
15
Diastrophic dysplasia in a seven-year-old girl. Case study. (20693580)
2010
16
The 3-dimensional configuration of the typical hip and knee in diastrophic dysplasia. (20502243)
2010
17
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. (21077202)
2010
18
Treatment of spinal deformities in patients with diastrophic dysplasia: a long-term, population based, retrospective outcome study. (19752701)
2009
19
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. (18925670)
2008
20
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. (18553123)
2008
21
The 3-dimensional configuration of the typical foot and ankle in diastrophic dysplasia. (18157048)
2008
22
Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. (17602446)
2007
23
The diagnosis of art: diastrophic dysplasia and Hephaistos. (17277273)
2007
24
Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly. (18056413)
2007
25
Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. (16954997)
2006
26
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. (16642506)
2006
27
The diagnosis of art: diastrophic dysplasia and Hephaistos. (22135839)
2006
28
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. (15703192)
2005
29
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. (15294877)
2004
30
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. (15316973)
2004
31
Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. (15308906)
2004
32
Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells. (15513522)
2004
33
Diastrophic dysplasia: prenatal three-dimensional ultrasound findings. (15027028)
2004
34
Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases. (12901408)
2003
35
Total knee arthroplasty in patients with diastrophic dysplasia. (14630837)
2003
36
Total hip arthroplasty in diastrophic dysplasia. (12637429)
2003
37
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. (14600463)
2003
38
Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation. (12854932)
2003
39
Early degeneration of the knee in diastrophic dysplasia: an MRI study. (14581774)
2003
40
Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia? (12193993)
2002
41
Cervical spine in patients with diastrophic dysplasia--radiographic findings in 122 patients. (12195300)
2002
42
Lung function in diastrophic dysplasia. (11921457)
2002
43
Magnetic resonance imaging analysis of hip joint development in patients with diastrophic dysplasia. (11856933)
2002
44
SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. (11457925)
2001
45
Scoliosis in patients with diastrophic dysplasia: a new classification. (11474356)
2001
46
Manubrium sterni in patients with diastrophic dysplasia--radiological analysis of 50 patients. (11550766)
2001
47
Thoracic and lumbar spine in diastrophic dysplasia: a clinical and magnetic resonance imaging analysis. (11154540)
2001
48
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. (11448940)
2001
49
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. (11241838)
2001
50
Motor milestones in children with diastrophic dysplasia. (10912597)
2000

Variations for Diastrophic Dysplasia

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Clinvar genetic disease variations for Diastrophic Dysplasia:

5 (show all 48)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC26A2NM_ 000112.3(SLC26A2): c.699+2T> CSNVPathogenicrs1057517461GRCh38Chr 5, 149978353: 149978353
2SLC26A2NM_ 000112.3(SLC26A2): c.207delT (p.Phe69Leufs)deletionLikely pathogenicrs1057517462GRCh38Chr 5, 149977859: 149977859
3SLC26A2NM_ 000112.3(SLC26A2): c.1311dupT (p.Ala438Cysfs)duplicationLikely pathogenicrs1057517471GRCh37Chr 5, 149360467: 149360467
4SLC26A2NM_ 000112.3(SLC26A2): c.1955_ 1958delACTG (p.Asp652Alafs)deletionLikely pathogenicrs1057517474GRCh37Chr 5, 149361111: 149361114
5SLC26A2NM_ 000112.3(SLC26A2): c.1649delA (p.Lys550Argfs)deletionLikely pathogenicrs1057517482GRCh37Chr 5, 149360805: 149360805
6SLC26A2NM_ 000112.3(SLC26A2): c.541C> T (p.Gln181Ter)SNVLikely pathogenicrs1057517483GRCh38Chr 5, 149978193: 149978193
7SLC26A2NM_ 000112.3(SLC26A2): c.1982delC (p.Thr661Lysfs)deletionLikely pathogenicrs762137330GRCh38Chr 5, 149981575: 149981575
8SLC26A2NM_ 000112.3(SLC26A2): c.922delA (p.Ser308Alafs)deletionLikely pathogenicrs1057517495GRCh37Chr 5, 149360078: 149360078
9SLC26A2NM_ 000112.3(SLC26A2): c.188delA (p.Asp63Valfs)deletionLikely pathogenicrs1057517496GRCh38Chr 5, 149977840: 149977840
10SLC26A2NM_ 000112.3(SLC26A2): c.1338delA (p.Glu447Asnfs)deletionLikely pathogenicrs1057517502GRCh38Chr 5, 149980931: 149980931
11SLC26A2NM_ 000112.3(SLC26A2): c.239_ 243dupGCAGT (p.Pro82Alafs)duplicationLikely pathogenicrs1057517504GRCh38Chr 5, 149977891: 149977895
12SLC26A2NM_ 000112.3(SLC26A2): c.1537_ 1541dupGTTAT (p.Ile514Metfs)duplicationLikely pathogenicrs1057517511GRCh37Chr 5, 149360693: 149360697
13SLC26A2NM_ 000112.3(SLC26A2): c.1998_ 1999delAC (p.Leu667Glufs)deletionLikely pathogenicrs1057517513GRCh38Chr 5, 149981591: 149981592
14SLC26A2NM_ 000112.3(SLC26A2): c.746C> G (p.Ser249Ter)SNVLikely pathogenicrs1057517514GRCh38Chr 5, 149980339: 149980339
15SLC26A2NM_ 000112.3(SLC26A2): c.185C> G (p.Ser62Ter)SNVLikely pathogenicrs1057517523GRCh37Chr 5, 149357400: 149357400
16SLC26A2NM_ 000112.3(SLC26A2): c.736_ 739delGTCT (p.Val246Thrfs)deletionLikely pathogenicrs1057517524GRCh38Chr 5, 149980329: 149980332
17SLC26A2NM_ 000112.3(SLC26A2): c.918delC (p.Thr307Profs)deletionLikely pathogenicrs1057517526GRCh37Chr 5, 149360074: 149360074
18SLC26A2NM_ 000112.3(SLC26A2): c.485_ 486delTG (p.Val162Glyfs)deletionLikely pathogenicrs1057517527GRCh37Chr 5, 149357700: 149357701
19SLC26A2NM_ 000112.3(SLC26A2): c.1806_ 1809delAACT (p.Thr603Serfs)deletionLikely pathogenicrs1057517530GRCh37Chr 5, 149360962: 149360965
20SLC26A2NM_ 000112.3(SLC26A2): c.1060G> T (p.Glu354Ter)SNVLikely pathogenicrs1057517532GRCh37Chr 5, 149360216: 149360216
21SLC26A2NM_ 000112.3(SLC26A2): c.1724delA (p.Lys575Serfs)deletionPathogenic/ Likely pathogenicrs386833498GRCh38Chr 5, 149981317: 149981317
22SLC26A2NM_ 000112.3(SLC26A2): c.391delC (p.Leu131Cysfs)deletionPathogenic/ Likely pathogenicrs786200881GRCh37Chr 5, 149357606: 149357606
23SLC26A2NM_ 000112.3(SLC26A2): c.835C> T (p.Arg279Trp)SNVPathogenicrs104893915GRCh37Chr 5, 149359991: 149359991
24SLC26A2NM_ 000112.3(SLC26A2): c.532C> T (p.Arg178Ter)SNVPathogenicrs104893919GRCh37Chr 5, 149357747: 149357747
25SLC26A2NM_ 000112.3(SLC26A2): c.1273A> G (p.Asn425Asp)SNVPathogenicrs104893920GRCh37Chr 5, 149360429: 149360429
26SLC26A2NM_ 000112.3(SLC26A2): c.2033G> T (p.Gly678Val)SNVPathogenic/ Likely pathogenicrs104893916GRCh37Chr 5, 149361189: 149361189
27SLC26A2NM_ 000112.3(SLC26A2): c.1361A> C (p.Gln454Pro)SNVPathogenicrs104893921GRCh37Chr 5, 149360517: 149360517
28SLC26A2NM_ 000112.3(SLC26A2): c.-26+2T> CSNVPathogenicrs386833492GRCh37Chr 5, 149340544: 149340544
29SLC26A2NM_ 000112.3(SLC26A2): c.1957T> A (p.Cys653Ser)SNVPathogenic/ Likely pathogenicrs104893924GRCh37Chr 5, 149361113: 149361113
30SLC26A2NM_ 000112.3(SLC26A2): c.1535C> A (p.Thr512Lys)SNVPathogenicrs121908078GRCh37Chr 5, 149360691: 149360691
31SLC26A2NM_ 000112.3(SLC26A2): c.398C> T (p.Ala133Val)SNVPathogenicrs267607055GRCh37Chr 5, 149357613: 149357613
32SLC26A2NM_ 000112.3(SLC26A2): c.1157C> T (p.Ala386Val)SNVLikely pathogenicrs386833493GRCh37Chr 5, 149360313: 149360313
33SLC26A2NM_ 000112.3(SLC26A2): c.1242_ 1245delAAAC (p.Asn415Argfs)deletionLikely pathogenicrs386833494GRCh37Chr 5, 149360398: 149360401
34SLC26A2NM_ 000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs)deletionLikely pathogenicrs386833495GRCh37Chr 5, 149360550: 149360550
35SLC26A2NM_ 000112.3(SLC26A2): c.1451G> A (p.Gly484Asp)SNVLikely pathogenicrs386833496GRCh37Chr 5, 149360607: 149360607
36SLC26A2NM_ 000112.3(SLC26A2): c.1976delT (p.Leu659Terfs)deletionLikely pathogenicrs386833499GRCh37Chr 5, 149361132: 149361132
37SLC26A2NM_ 000112.3(SLC26A2): c.1983delA (p.Ala662Glnfs)deletionLikely pathogenicrs386833500GRCh37Chr 5, 149361139: 149361139
38SLC26A2NM_ 000112.3(SLC26A2): c.2120_ 2121delTT (p.Leu707Profs)deletionLikely pathogenicrs386833501GRCh37Chr 5, 149361276: 149361277
39SLC26A2NM_ 000112.3(SLC26A2): c.255delC (p.Asn87Ilefs)deletionLikely pathogenicrs386833502GRCh37Chr 5, 149357470: 149357470
40SLC26A2NM_ 000112.3(SLC26A2): c.331G> T (p.Asp111Tyr)SNVLikely pathogenicrs386833503GRCh37Chr 5, 149357546: 149357546
41SLC26A2NM_ 000112.3(SLC26A2): c.403C> A (p.Gln135Lys)SNVLikely pathogenicrs386833504GRCh37Chr 5, 149357618: 149357618
42SLC26A2NM_ 000112.3(SLC26A2): c.47C> G (p.Ser16Ter)SNVLikely pathogenicrs386833505GRCh37Chr 5, 149357262: 149357262
43SLC26A2NM_ 000112.3(SLC26A2): c.496G> A (p.Gly166Arg)SNVLikely pathogenicrs386833506GRCh37Chr 5, 149357711: 149357711
44SLC26A2NM_ 000112.3(SLC26A2): c.55G> T (p.Gly19Ter)SNVLikely pathogenicrs386833507GRCh37Chr 5, 149357270: 149357270
45SLC26A2NM_ 000112.3(SLC26A2): c.700-1G> CSNVLikely pathogenicrs200963884GRCh37Chr 5, 149359855: 149359855
46SLC26A2NM_ 000112.3(SLC26A2): c.705_ 711delGATGGGC (p.Met236Serfs)deletionLikely pathogenicrs386833508GRCh37Chr 5, 149359861: 149359867
47SLC26A2NM_ 000112.3(SLC26A2): c.906_ 907delCT (p.Cys303Terfs)deletionLikely pathogenicrs386833509GRCh37Chr 5, 149360062: 149360063
48SLC26A2NM_ 000112.3(SLC26A2): c.1020_ 1022delTGT (p.Val341del)deletionPathogenic/ Likely pathogenicrs121908077GRCh37Chr 5, 149360176: 149360178

Expression for genes affiliated with Diastrophic Dysplasia

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Search GEO for disease gene expression data for Diastrophic Dysplasia.

Pathways for genes affiliated with Diastrophic Dysplasia

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GO Terms for genes affiliated with Diastrophic Dysplasia

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Cellular components related to Diastrophic Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:003152610.2SLC26A3, SLC26A4
2extracellular matrixGO:00310129.7COL2A1, COMP, FN1
3apical plasma membraneGO:00163249.7FN1, SLC26A3, SLC26A4
4proteinaceous extracellular matrixGO:00055789.1COL2A1, COMP, FN1

Biological processes related to Diastrophic Dysplasia according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1cartilage developmentGO:005121610.0BMP2, COL2A1
2cellular response to BMP stimulusGO:007177310.0BMP2, COL2A1
3chondrocyte differentiationGO:000206210.0BMP2, COL2A1
4inner ear developmentGO:004883910.0BMP2, COL2A1
5proteoglycan metabolic processGO:000602910.0BMP2, COL2A1
6extracellular matrix organizationGO:00301989.8COL2A1, COMP, FN1
7anion transmembrane transportGO:00986569.7SLC26A3, SLC26A4, SLC26A5
8sensory perception of soundGO:00076059.6COL2A1, SLC26A4, SLC26A5
9ossificationGO:00015039.6BMP2, COL2A1, SLC26A2
10skeletal system developmentGO:00015019.5BMP2, COL2A1, COMP
11bicarbonate transportGO:00157019.3SLC26A2, SLC26A3, SLC26A4, SLC26A5
12chloride transmembrane transportGO:19024769.3SLC26A2, SLC26A3, SLC26A4, SLC26A5
13oxalate transportGO:00195329.3SLC26A2, SLC26A3, SLC26A4, SLC26A5
14regulation of intracellular pHGO:00514539.3SLC26A2, SLC26A3, SLC26A4, SLC26A5
15regulation of membrane potentialGO:00423919.3SLC26A2, SLC26A3, SLC26A4, SLC26A5
16sulfate transmembrane transportGO:19023589.2SLC26A2, SLC26A3, SLC26A4, SLC26A5
17sulfate transportGO:00082729.2SLC26A2, SLC26A3, SLC26A4, SLC26A5
18transmembrane transportGO:00550858.6SLC26A2, SLC26A3, SLC26A4, SLC26A5

Molecular functions related to Diastrophic Dysplasia according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transporter activityGO:001510810.1SLC26A3, SLC26A4
2extracellular matrix structural constituentGO:000520110.1COL2A1, COMP
3collagen bindingGO:000551810.0COMP, FN1
4anion:anion antiporter activityGO:00153019.2SLC26A2, SLC26A3, SLC26A4, SLC26A5
5bicarbonate transmembrane transporter activityGO:00151069.2SLC26A2, SLC26A3, SLC26A4, SLC26A5
6chloride channel activityGO:00052549.1SLC26A2, SLC26A3, SLC26A4, SLC26A5
7oxalate transmembrane transporter activityGO:00195319.0SLC26A2, SLC26A3, SLC26A4, SLC26A5
8secondary active sulfate transmembrane transporter activityGO:00082718.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
9sulfate transmembrane transporter activityGO:00151168.6SLC26A2, SLC26A3, SLC26A4, SLC26A5

Sources for Diastrophic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet