MCID: DST005
MIFTS: 52

Diastrophic Dysplasia 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 denys-drash syndrome and parkinsonism-dystonia, infantile, and has symptoms including macrocephaly, malar flattening and abnormality of the ribs. 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 56)
idRelated DiseaseScoreTop Affiliating Genes
1denys-drash syndrome11.7
2parkinsonism-dystonia, infantile11.5
3clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly11.0
4dentin dysplasia, type ii10.9
5dentin dysplasia, type i, with microdontia and misshapen teeth10.9
6mohr-tranebjaerg syndrome10.9
7dissociative disorder10.8
8darier disease10.7
9dentin dysplasia10.7
10leber congenital amaurosis 310.4COL2A1, SLC26A2
11stickler syndrome10.3COL2A1, SLC26A2
12myopathy with extrapyramidal signs10.3COL2A1, SLC26A2
13dwarfism10.3
14syphilitic myelopathy10.3BMP2, COL2A1
15secretory diarrhea myopathy and deafness10.3SLC26A2, SLC26A3
16descending colon cancer10.2BMP2, SLC26A2
17bone resorption disease10.2BMP2, COL2A1
18atelosteogenesis10.1
19cervicitis10.1
20hemolytic anemia due to glutathione synthetase deficiency10.1COL2A1, COMP
21osteopathia striata with pigmentary dermopathy including white forelock10.1COL2A1, COMP
22smed strudwick type10.1COL2A1, COMP
23chromosomal disease10.1BMP2, COL2A1
24acromesomelic dysplasia10.1COL2A1, COMP
25atrioventricular septal defect10.1COMP, SLC26A2
26ovarian insufficiency, familial10.0BMP2, COL2A1
27congenital generalized lipodystrophy10.0BMP2, COL2A1
28tinea corporis10.0SLC26A2, SLC26A4
29achondrogenesis, type ii or hypochondrogenesis10.0COL2A1, COMP
30fibrochondrogenesis10.0COMP, SLC26A2
31coronary artery disease10.0
32artery disease10.0
33pseudoachondroplasia9.9
34achondrogenesis9.9
35otosclerosis9.9
36multiple epiphyseal dysplasia9.9
37endotheliitis9.9
38neuropathy, distal hereditary motor, type iia9.9COL2A1, COMP, SLC26A2
39immunodeficiency 309.9COL2A1, COMP, SLC26A2
40pars planitis9.9COL2A1, COMP, SLC26A2
41ischemic bone disease9.9COL2A1, COMP, SLC26A2
42vulvovaginal candidiasis9.8COL2A1, COMP, SLC26A2
43myocardial infarction9.8
44obesity9.8
45pseudodiastrophic dysplasia9.8
46cerebral palsy9.8
47scoliosis9.8
48spondylolysis9.8
49cerebritis9.8
50spasticity9.8

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:

 64 54 (show all 64)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000256
2 malar flattening64 hallmark (90%) HP:0000272
3 abnormality of the ribs64 54 hallmark (90%) Very frequent (99-80%) HP:0000772
4 abnormality of the clavicle64 54 hallmark (90%) Very frequent (99-80%) HP:0000889
5 abnormality of the metaphyses64 54 hallmark (90%) Very frequent (99-80%) HP:0000944
6 brachydactyly syndrome64 hallmark (90%) HP:0001156
7 abnormality of the metacarpal bones64 54 hallmark (90%) Very frequent (99-80%) HP:0001163
8 intrauterine growth retardation64 54 hallmark (90%) Very frequent (99-80%) HP:0001511
9 scoliosis64 54 hallmark (90%) Very frequent (99-80%) HP:0002650
10 micromelia64 54 hallmark (90%) Very frequent (99-80%) HP:0002983
11 abnormal form of the vertebral bodies64 54 hallmark (90%) Very frequent (99-80%) HP:0003312
12 depressed nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0005280
13 bowing of the long bones64 54 hallmark (90%) Very frequent (99-80%) HP:0006487
14 proximal placement of thumb64 54 hallmark (90%) Very frequent (99-80%) HP:0009623
15 large earlobe64 54 hallmark (90%) Very frequent (99-80%) HP:0009748
16 symphalangism affecting the phalanges of the hand64 54 hallmark (90%) Very frequent (99-80%) HP:0009773
17 increased bone mineral density64 54 hallmark (90%) Very frequent (99-80%) HP:0011001
18 cleft palate64 54 typical (50%) Frequent (79-30%) HP:0000175
19 full cheeks64 54 typical (50%) Frequent (79-30%) HP:0000293
20 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
21 low-set, posteriorly rotated ears64 54 typical (50%) Frequent (79-30%) HP:0000368
22 overfolded helix64 54 typical (50%) Frequent (79-30%) HP:0000396
23 blue sclerae64 54 typical (50%) Frequent (79-30%) HP:0000592
24 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
25 limitation of joint mobility64 typical (50%) HP:0001376
26 respiratory insufficiency64 54 typical (50%) Frequent (79-30%) HP:0002093
27 recurrent respiratory infections64 54 typical (50%) Frequent (79-30%) HP:0002205
28 kyphosis64 54 typical (50%) Frequent (79-30%) HP:0002808
29 abnormality of the hip bone64 typical (50%) HP:0003272
30 ulnar deviation of finger64 54 typical (50%) Frequent (79-30%) HP:0009465
31 camptodactyly of finger64 54 typical (50%) Frequent (79-30%) HP:0100490
32 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
33 micrognathia64 54 occasional (7.5%) Occasional (29-5%) HP:0000347
34 hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000365
35 hyperextensible skin64 54 occasional (7.5%) Occasional (29-5%) HP:0000974
36 joint hypermobility64 occasional (7.5%) HP:0001382
37 cerebral calcification64 54 occasional (7.5%) Occasional (29-5%) HP:0002514
38 elbow dislocation64 54 occasional (7.5%) Occasional (29-5%) HP:0003042
39 visceral angiomatosis64 54 occasional (7.5%) Occasional (29-5%) HP:0100761
40 glabellar hemangioma64 HP:0001076
41 hitchhiker thumb64 HP:0001234
42 hoarse voice64 HP:0001609
43 talipes equinovarus64 HP:0001762
44 spinal cord compression64 HP:0002176
45 kyphoscoliosis64 HP:0002751
46 cervical kyphosis64 HP:0002947
47 short long bone64 HP:0003026
48 flattened epiphysis64 HP:0003071
49 hip contracture64 HP:0003273
50 laryngotracheal stenosis64 HP:0004894
51 costal cartilage calcification64 HP:0006646
52 hypoplastic cervical vertebrae64 54 Very frequent (99-80%) HP:0008434
53 hypertrophic auricular cartilage64 HP:0008608
54 disproportionate short-limb short stature64 HP:0008873
55 neonatal short-limb short stature64 54 Very frequent (99-80%) HP:0008921
56 short finger64 54 Very frequent (99-80%) HP:0009381
57 irregular epiphyses64 HP:0010582
58 cystic lesions of the pinnae64 HP:0010723
59 joint dislocation54 Frequent (79-30%)
60 hip dysplasia54 Frequent (79-30%)
61 joint stiffness54 Frequent (79-30%)
62 joint hyperflexibility54 Occasional (29-5%)
63 abnormality of epiphysis morphology54 Very frequent (99-80%)
64 midface retrusion54 Very frequent (99-80%)

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
Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up. (26692703)
2015
2
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene. (26077908)
2015
3
Gait Pattern and Lower Extremity Alignment in Children With Diastrophic Dysplasia. (26296216)
2015
4
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia. (26206888)
2015
5
Management of a Parturient with Diastrophic Dysplasia. (26125691)
2015
6
Not just cerebral palsy: diastrophic dysplasia presenting as spastic quadriparesis. (24679608)
2014
7
Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion. (24591336)
2014
8
Diastrophic dysplasia - variant. (24632705)
2014
9
Corrections of lower limb deformities in patients with diastrophic dysplasia. (25430710)
2014
10
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
11
Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland. (23389768)
2013
12
Diastrophic dysplasia: prenatal diagnosis and review of the literature. (23657516)
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
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. (21077202)
2010
16
Diastrophic dysplasia in a seven-year-old girl. Case study. (20693580)
2010
17
The 3-dimensional configuration of the typical hip and knee in diastrophic dysplasia. (20502243)
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
Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly. (18056413)
2007
23
The diagnosis of art: diastrophic dysplasia and Hephaistos. (17277273)
2007
24
Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. (17602446)
2007
25
Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. (16954997)
2006
26
The diagnosis of art: diastrophic dysplasia and Hephaistos. (22135839)
2006
27
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. (16642506)
2006
28
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. (15703192)
2005
29
Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. (15308906)
2004
30
Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells. (15513522)
2004
31
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. (15316973)
2004
32
Diastrophic dysplasia: prenatal three-dimensional ultrasound findings. (15027028)
2004
33
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. (15294877)
2004
34
Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation. (12854932)
2003
35
Early degeneration of the knee in diastrophic dysplasia: an MRI study. (14581774)
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
Total knee arthroplasty in patients with diastrophic dysplasia. (14630837)
2003
39
Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases. (12901408)
2003
40
Cervical spine in patients with diastrophic dysplasia--radiographic findings in 122 patients. (12195300)
2002
41
Magnetic resonance imaging analysis of hip joint development in patients with diastrophic dysplasia. (11856933)
2002
42
Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia? (12193993)
2002
43
Lung function in diastrophic dysplasia. (11921457)
2002
44
Manubrium sterni in patients with diastrophic dysplasia--radiological analysis of 50 patients. (11550766)
2001
45
SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. (11457925)
2001
46
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. (11241838)
2001
47
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. (11448940)
2001
48
Scoliosis in patients with diastrophic dysplasia: a new classification. (11474356)
2001
49
Thoracic and lumbar spine in diastrophic dysplasia: a clinical and magnetic resonance imaging analysis. (11154540)
2001
50
Diastrophic dysplasia with severe primary kyphosis and 'monkey wrench' appearance of the femora. (11103546)
2000

Variations for Diastrophic Dysplasia

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Clinvar genetic disease variations for Diastrophic Dysplasia:

5 (show all 49)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC26A2NM_000112.3: c.699+2T> CSNVPathogenicChr na, -1: -1
2SLC26A2NM_000112.3: c.207delTdeletionLikely pathogenicChr na, -1: -1
3SLC26A2NM_000112.3: c.1311dupTduplicationLikely pathogenicChr na, -1: -1
4SLC26A2NM_000112.3: c.1955_1958delACTGdeletionLikely pathogenicChr na, -1: -1
5SLC26A2NM_000112.3: c.1649delAdeletionLikely pathogenicChr na, -1: -1
6SLC26A2NM_000112.3: c.541C> TSNVLikely pathogenicChr na, -1: -1
7SLC26A2NM_000112.3: c.1982delCdeletionLikely pathogenicChr na, -1: -1
8SLC26A2NM_000112.3: c.922delAdeletionLikely pathogenicChr na, -1: -1
9SLC26A2NM_000112.3: c.188delAdeletionLikely pathogenicChr na, -1: -1
10SLC26A2NM_000112.3: c.1338delAdeletionLikely pathogenicChr na, -1: -1
11SLC26A2NM_000112.3: c.239_243dup5duplicationLikely pathogenicChr na, -1: -1
12SLC26A2NM_000112.3: c.1537_1541dup5duplicationLikely pathogenicChr na, -1: -1
13SLC26A2NM_000112.3: c.1998_1999delACdeletionLikely pathogenicChr na, -1: -1
14SLC26A2NM_000112.3: c.746C> GSNVLikely pathogenicChr na, -1: -1
15SLC26A2NM_000112.3: c.185C> GSNVLikely pathogenicChr na, -1: -1
16SLC26A2NM_000112.3: c.736_739delGTCTdeletionLikely pathogenicChr na, -1: -1
17SLC26A2NM_000112.3: c.918delCdeletionLikely pathogenicChr na, -1: -1
18SLC26A2NM_000112.3: c.485_486delTGdeletionLikely pathogenicChr na, -1: -1
19SLC26A2NM_000112.3: c.1806_1809delAACTdeletionLikely pathogenicChr na, -1: -1
20SLC26A2NM_000112.3: c.1060G> TSNVLikely pathogenicChr na, -1: -1
21SLC26A2NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs)deletionLikely pathogenic, Pathogenicrs386833498GRCh38Chr 5, 149981317: 149981317
22SLC26A2NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs)deletionLikely pathogenic, 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)SNVLikely pathogenic, 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)SNVLikely pathogenic, 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.1650delG (p.Ser551Valfs)deletionLikely pathogenicrs386833497GRCh37Chr 5, 149360806: 149360806
37SLC26A2NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs)deletionLikely pathogenicrs386833499GRCh37Chr 5, 149361132: 149361132
38SLC26A2NM_000112.3(SLC26A2): c.1983delA (p.Ala662Glnfs)deletionLikely pathogenicrs386833500GRCh37Chr 5, 149361139: 149361139
39SLC26A2NM_000112.3(SLC26A2): c.2120_2121delTT (p.Leu707Profs)deletionLikely pathogenicrs386833501GRCh37Chr 5, 149361276: 149361277
40SLC26A2NM_000112.3(SLC26A2): c.255delC (p.Asn87Ilefs)deletionLikely pathogenicrs386833502GRCh37Chr 5, 149357470: 149357470
41SLC26A2NM_000112.3(SLC26A2): c.331G> T (p.Asp111Tyr)SNVLikely pathogenicrs386833503GRCh37Chr 5, 149357546: 149357546
42SLC26A2NM_000112.3(SLC26A2): c.403C> A (p.Gln135Lys)SNVLikely pathogenicrs386833504GRCh37Chr 5, 149357618: 149357618
43SLC26A2NM_000112.3(SLC26A2): c.47C> G (p.Ser16Ter)SNVLikely pathogenicrs386833505GRCh37Chr 5, 149357262: 149357262
44SLC26A2NM_000112.3(SLC26A2): c.496G> A (p.Gly166Arg)SNVLikely pathogenicrs386833506GRCh38Chr 5, 149978148: 149978148
45SLC26A2NM_000112.3(SLC26A2): c.55G> T (p.Gly19Ter)SNVLikely pathogenicrs386833507GRCh37Chr 5, 149357270: 149357270
46SLC26A2NM_000112.3(SLC26A2): c.700-1G> CSNVLikely pathogenicrs200963884GRCh37Chr 5, 149359855: 149359855
47SLC26A2NM_000112.3(SLC26A2): c.705_711delGATGGGC (p.Met236Serfs)deletionLikely pathogenicrs386833508GRCh37Chr 5, 149359861: 149359867
48SLC26A2NM_000112.3(SLC26A2): c.906_907delCT (p.Cys303Terfs)deletionLikely pathogenicrs386833509GRCh37Chr 5, 149360062: 149360063
49SLC26A2NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del)deletionLikely pathogenic, 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 17)
idNameGO IDScoreTop Affiliating Genes
1ossificationGO:000150310.4COL2A1, SLC26A2
2chondrocyte differentiationGO:000206210.0BMP2, COL2A1
3inner ear developmentGO:004883910.0BMP2, COL2A1
4response to ischemiaGO:000293110.0FN1, SLC26A5
5proteoglycan metabolic processGO:00060299.9BMP2, COL2A1
6ion transportGO:00068119.9SLC26A2, SLC26A3, SLC26A4
7extracellular matrix organizationGO:00301989.8COL2A1, COMP, FN1
8sulfate transportGO:00082729.6SLC26A2, SLC26A4
9sensory perception of soundGO:00076059.5COL2A1, SLC26A4, SLC26A5
10cellular response to BMP stimulusGO:00717739.5BMP2, COL2A1, FN1
11bicarbonate transportGO:00157019.3SLC26A2, SLC26A3, SLC26A4, SLC26A5
12chloride transmembrane transportGO:19024769.3SLC26A2, SLC26A3, SLC26A4, SLC26A5
13oxalate transportGO:00195329.2SLC26A2, SLC26A3, SLC26A4, SLC26A5
14regulation of intracellular pHGO:00514539.2SLC26A2, SLC26A3, SLC26A4, SLC26A5
15skeletal system developmentGO:00015019.2BMP2, COL2A1, COMP
16regulation of membrane potentialGO:00423919.2SLC26A2, SLC26A3, SLC26A4, SLC26A5
17sulfate transmembrane transportGO:19023588.9SLC26A2, SLC26A3, SLC26A4, SLC26A5

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transporter activityGO:001510810.1SLC26A3, SLC26A4
2collagen bindingGO:00055189.9COMP, FN1
3anion:anion antiporter activityGO:00153019.2SLC26A2, SLC26A3, SLC26A4, SLC26A5
4bicarbonate transmembrane transporter activityGO:00151069.2SLC26A2, SLC26A3, SLC26A4, SLC26A5
5chloride channel activityGO:00052549.1SLC26A2, SLC26A3, SLC26A4, SLC26A5
6oxalate transmembrane transporter activityGO:00195319.0SLC26A2, SLC26A3, SLC26A4, SLC26A5
7secondary active sulfate transmembrane transporter activityGO:00082718.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
8sulfate 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