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 51 11 23 47 24 25 53 69 26 12 49 38 13 67
Diastrophic Dwarfism 23 47 24 25 53 69
Dtd 47 24 25 69
 
Dd 47 69
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 51

Characteristics:

Orphanet epidemiological data:

53
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:

63
diastrophic dysplasia:
Inheritance: autosomal recessive inheritance

GeneReviews:

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


Classifications:



External Ids:

OMIM51 222600
Disease Ontology11 DOID:14687
ICD1029 Q77.5
SNOMED-CT61 58561002
Orphanet53 ORPHA628
UMLS via Orphanet68 C0220726
ICD10 via Orphanet30 Q77.5

Summaries for Diastrophic Dysplasia

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NIH Rare Diseases:47 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:69 Diastrophic dysplasia: An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities.

Wikipedia:70 Diastrophic dysplasia (DTD) is an autosomal recessivedysplasia which affects cartilage and bone... more...

Description from OMIM:51 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 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:

 63 53 (show all 64)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000256
2 malar flattening63 hallmark (90%) HP:0000272
3 abnormality of the ribs63 53 hallmark (90%) Very frequent (99-80%) HP:0000772
4 abnormality of the clavicle63 53 hallmark (90%) Very frequent (99-80%) HP:0000889
5 abnormality of the metaphyses63 53 hallmark (90%) Very frequent (99-80%) HP:0000944
6 brachydactyly syndrome63 hallmark (90%) HP:0001156
7 abnormality of the metacarpal bones63 53 hallmark (90%) Very frequent (99-80%) HP:0001163
8 intrauterine growth retardation63 53 hallmark (90%) Very frequent (99-80%) HP:0001511
9 scoliosis63 53 hallmark (90%) Very frequent (99-80%) HP:0002650
10 micromelia63 53 hallmark (90%) Very frequent (99-80%) HP:0002983
11 abnormal form of the vertebral bodies63 53 hallmark (90%) Very frequent (99-80%) HP:0003312
12 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
13 bowing of the long bones63 53 hallmark (90%) Very frequent (99-80%) HP:0006487
14 proximal placement of thumb63 53 hallmark (90%) Very frequent (99-80%) HP:0009623
15 large earlobe63 53 hallmark (90%) Very frequent (99-80%) HP:0009748
16 symphalangism affecting the phalanges of the hand63 53 hallmark (90%) Very frequent (99-80%) HP:0009773
17 increased bone mineral density63 53 hallmark (90%) Very frequent (99-80%) HP:0011001
18 cleft palate63 53 typical (50%) Frequent (79-30%) HP:0000175
19 full cheeks63 53 typical (50%) Frequent (79-30%) HP:0000293
20 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
21 low-set, posteriorly rotated ears63 53 typical (50%) Frequent (79-30%) HP:0000368
22 overfolded helix63 53 typical (50%) Frequent (79-30%) HP:0000396
23 blue sclerae63 53 typical (50%) Frequent (79-30%) HP:0000592
24 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
25 limitation of joint mobility63 typical (50%) HP:0001376
26 respiratory insufficiency63 53 typical (50%) Frequent (79-30%) HP:0002093
27 recurrent respiratory infections63 53 typical (50%) Frequent (79-30%) HP:0002205
28 kyphosis63 53 typical (50%) Frequent (79-30%) HP:0002808
29 abnormality of the hip bone63 typical (50%) HP:0003272
30 ulnar deviation of finger63 53 typical (50%) Frequent (79-30%) HP:0009465
31 camptodactyly of finger63 53 typical (50%) Frequent (79-30%) HP:0100490
32 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
33 micrognathia63 53 occasional (7.5%) Occasional (29-5%) HP:0000347
34 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
35 hyperextensible skin63 53 occasional (7.5%) Occasional (29-5%) HP:0000974
36 joint hypermobility63 occasional (7.5%) HP:0001382
37 cerebral calcification63 53 occasional (7.5%) Occasional (29-5%) HP:0002514
38 elbow dislocation63 53 occasional (7.5%) Occasional (29-5%) HP:0003042
39 visceral angiomatosis63 53 occasional (7.5%) Occasional (29-5%) HP:0100761
40 glabellar hemangioma63 HP:0001076
41 hitchhiker thumb63 HP:0001234
42 hoarse voice63 HP:0001609
43 talipes equinovarus63 HP:0001762
44 spinal cord compression63 HP:0002176
45 kyphoscoliosis63 HP:0002751
46 cervical kyphosis63 HP:0002947
47 short long bone63 HP:0003026
48 flattened epiphysis63 HP:0003071
49 hip contracture63 HP:0003273
50 laryngotracheal stenosis63 HP:0004894
51 costal cartilage calcification63 HP:0006646
52 hypoplastic cervical vertebrae63 53 Very frequent (99-80%) HP:0008434
53 hypertrophic auricular cartilage63 HP:0008608
54 disproportionate short-limb short stature63 HP:0008873
55 neonatal short-limb short stature63 53 Very frequent (99-80%) HP:0008921
56 short finger63 53 Very frequent (99-80%) HP:0009381
57 irregular epiphyses63 HP:0010582
58 cystic lesions of the pinnae63 HP:0010723
59 joint dislocation53 Frequent (79-30%)
60 hip dysplasia53 Frequent (79-30%)
61 joint stiffness53 Frequent (79-30%)
62 joint hyperflexibility53 Occasional (29-5%)
63 abnormality of epiphysis morphology53 Very frequent (99-80%)
64 midface retrusion53 Very frequent (99-80%)

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 Dysplasia26 24 SLC26A2

Anatomical Context for Diastrophic Dysplasia

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MalaCards organs/tissues related to Diastrophic Dysplasia:

35
Bone, Skin, Spinal cord, Adrenal cortex, Cortex, Lung

Animal Models for Diastrophic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Diastrophic Dysplasia:

40
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

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
Not just cerebral palsy: diastrophic dysplasia presenting as spastic quadriparesis. (24679608)
2014
3
Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion. (24591336)
2014
4
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
5
Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland. (23389768)
2013
6
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. (21155763)
2011
7
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. (18925670)
2008
8
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
9
Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly. (18056413)
2007
10
The diagnosis of art: diastrophic dysplasia and Hephaistos. (17277273)
2007
11
Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. (16954997)
2006
12
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. (15703192)
2005
13
Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. (15308906)
2004
14
Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells. (15513522)
2004
15
Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation. (12854932)
2003
16
Cervical spine in patients with diastrophic dysplasia--radiographic findings in 122 patients. (12195300)
2002
17
Magnetic resonance imaging analysis of hip joint development in patients with diastrophic dysplasia. (11856933)
2002
18
Manubrium sterni in patients with diastrophic dysplasia--radiological analysis of 50 patients. (11550766)
2001
19
SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. (11457925)
2001
20
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. (11241838)
2001
21
Diastrophic dysplasia with severe primary kyphosis and 'monkey wrench' appearance of the femora. (11103546)
2000
22
Cervical kyphosis in diastrophic dysplasia. (10528373)
1999
23
The spine in diastrophic dysplasia. The surgical arthrodesis of thoracic and lumbar deformities in 21 patients. (10586456)
1999
24
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. (10466420)
1999
25
Development of the hip in diastrophic dysplasia. (9546468)
1998
26
Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity. (9602486)
1998
27
Correlation between speech outcome and cephalometric dimensions in patients with diastrophic dysplasia. (9594377)
1998
28
Diastrophic dysplasia diagnosed in a case published 100 years ago. (9600747)
1998
29
Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia. (9415482)
1997
30
Growth in diastrophic dysplasia. (9108864)
1997
31
Cloning and characterization of the 5'-flanking region of the mouse diastrophic dysplasia sulfate transporter gene. (9325159)
1997
32
Craniofacial structure in diastrophic dysplasia--a cephalometric study. (9332652)
1997
33
Phenotypic features of dentition in diastrophic dysplasia. (8872707)
1996
34
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. (8528239)
1996
35
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter. (8702490)
1996
36
Diastrophic dysplasia: extreme variability within a sibship. (8723083)
1996
37
Severe mid-cervical kyphosis with cord compression in Larsen's syndrome and diastrophic dysplasia: unrelated syndromes with similar radiologic findings and neurosurgical implications. (7596660)
1995
38
Abnormality of type IX collagen in a patient with diastrophic dysplasia. (8160734)
1994
39
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. (7923357)
1994
40
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. (8487268)
1993
41
Diastrophic dysplasia: a case report. (1340866)
1992
42
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. (1345170)
1992
43
Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia. (2732992)
1989
44
Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound. (3065771)
1988
45
Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks. (3300333)
1987
46
Abnormal pattern of segment long spacing (SLS) cartilage collagen in diastrophic dysplasia. (7105649)
1982
47
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. (6298815)
1982
48
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. (6803579)
1982
49
Diastrophic dysplasia: the death of a variant. (6787663)
1981
50
The phenotypic variability of diastrophic dysplasia. (702237)
1978

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:00315269.2SLC26A3, SLC26A4
2extracellular matrixGO:00310129.2COL2A1, COMP, FN1
3proteinaceous extracellular matrixGO:00055789.2COL2A1, COMP, FN1
4apical plasma membraneGO:00163249.0FN1, SLC26A3, SLC26A4

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1sulfate transportGO:000827210.3SLC26A2, SLC26A4
2ossificationGO:000150310.0COL2A1, SLC26A2
3response to ischemiaGO:00029319.8FN1, SLC26A5
4proteoglycan metabolic processGO:00060299.7BMP2, COL2A1
5chondrocyte differentiationGO:00020629.7BMP2, COL2A1
6ion transportGO:00068119.6SLC26A2, SLC26A3, SLC26A4
7inner ear developmentGO:00488399.4BMP2, COL2A1
8sulfate transmembrane transportGO:19023589.3SLC26A2, SLC26A3, SLC26A4, SLC26A5
9oxalate transportGO:00195329.3SLC26A2, SLC26A3, SLC26A4, SLC26A5
10regulation of intracellular pHGO:00514539.2SLC26A2, SLC26A3, SLC26A4, SLC26A5
11extracellular matrix organizationGO:00301989.1COL2A1, COMP, FN1
12chloride transmembrane transportGO:19024769.1SLC26A2, SLC26A3, SLC26A4, SLC26A5
13bicarbonate transportGO:00157019.0SLC26A2, SLC26A3, SLC26A4, SLC26A5
14cellular response to BMP stimulusGO:00717739.0BMP2, COL2A1, FN1
15skeletal system developmentGO:00015018.9BMP2, COL2A1, COMP
16sensory perception of soundGO:00076058.7COL2A1, SLC26A4, SLC26A5
17regulation of membrane potentialGO:00423918.5SLC26A2, 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:00151089.9SLC26A3, SLC26A4
2collagen bindingGO:00055189.5COMP, FN1
3oxalate transmembrane transporter activityGO:00195319.1SLC26A2, SLC26A3, SLC26A4, SLC26A5
4secondary active sulfate transmembrane transporter activityGO:00082719.1SLC26A2, SLC26A3, SLC26A4, SLC26A5
5sulfate transmembrane transporter activityGO:00151169.1SLC26A2, SLC26A3, SLC26A4, SLC26A5
6anion:anion antiporter activityGO:00153019.0SLC26A2, SLC26A3, SLC26A4, SLC26A5
7bicarbonate transmembrane transporter activityGO:00151069.0SLC26A2, SLC26A3, SLC26A4, SLC26A5
8chloride channel activityGO:00052548.8SLC26A2, SLC26A3, SLC26A4, SLC26A5

Sources for Diastrophic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet