MCID: DST005
MIFTS: 57

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 50 11 22 46 23 24 13 52 68 25 12 48 37 66
Diastrophic Dwarfism 22 46 23 24 52 68
Dtd 46 23 24 68
 
Dd 46 68
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 50

Characteristics:

Orphanet epidemiological data:

52
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:

62
diastrophic dysplasia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 222600
Disease Ontology11 DOID:14687
ICD1028 Q77.5
SNOMED-CT60 58561002
Orphanet52 ORPHA628
ICD10 via Orphanet29 Q77.5
UMLS via Orphanet67 C0220726

Summaries for Diastrophic Dysplasia

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NIH Rare Diseases:46 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 Syndecan-2-mediated signaling events and ECM-receptor interaction. Affiliated tissues include bone, skin and spinal cord, and related mouse phenotypes are craniofacial and liver/biliary system.

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:24 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:68 Diastrophic dysplasia: An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities.

Wikipedia:69 Diastrophic dysplasia (DTD) is an autosomal recessivedysplasia which affects cartilage and bone... more...

Description from OMIM:50 222600

GeneReviews summary 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 69)
idRelated DiseaseScoreTop Affiliating Genes
1denys-drash syndrome11.6
2parkinsonism-dystonia, infantile11.4
3dentin dysplasia, type ii11.0
4dentin dysplasia, type i, with microdontia and misshapen teeth11.0
5mohr-tranebjaerg syndrome11.0
6darier disease10.9
7dentin dysplasia10.9
8leber congenital amaurosis 310.6COL2A1, SLC26A2
9stickler syndrome10.6COL2A1, SLC26A2
10treacher collins syndrome 110.5SLC26A1, SLC26A2
11achondrogenesis ib10.5SLC26A1, SLC26A2
12syphilitic myelopathy10.4BMP2, COL2A1
13congenital methemoglobinemia10.4IL6, TGFB1
14secretory diarrhea myopathy and deafness10.4SLC26A2, SLC26A3
15scrotum paget's disease10.4IL6, TGFB1
16dwarfism10.4
17vibrio vulnificus infection10.4IL6, TGFB1
18intracranial arteriovenous malformation10.4BMP2, TGFB1
19myopathy with extrapyramidal signs10.4COL2A1, SLC26A2
20post-infectious myocarditis10.4IL6, TGFB1
21osteopetrosis10.3COL2A1, TGFB1
22orbital lymphangioma10.3IL6, TGFB1
23hemolytic anemia due to glutathione synthetase deficiency10.3COL2A1, COMP
24atelosteogenesis10.3
25cervicitis10.3
26osteopathia striata with pigmentary dermopathy including white forelock10.2COL2A1, COMP
27descending colon cancer10.2BMP2, SLC26A2, TGFB1
28smed strudwick type10.2COL2A1, COMP
29acromesomelic dysplasia10.2COL2A1, COMP
30dental pulp disease10.1COL2A1, IL6, TGFB1
31opiate dependence10.1COMP, IL6
32echinococcosis10.1IL6, TGFB1
33atrioventricular septal defect10.1COMP, SLC26A2
34cerebral hemorrhage10.1COMP, SLC26A1
35tinea corporis10.1SLC26A2, SLC26A4
36clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly10.1
37coronary artery disease10.1
38artery disease10.1
39endotheliitis10.1
40actinomycosis10.1IL6, TGFB1
41neuropathy, distal hereditary motor, type iia10.1COL2A1, COMP, SLC26A2
42pseudoachondroplasia10.1
43desbuquois dysplasia10.1
44achondrogenesis10.1
45otosclerosis10.1
46multiple epiphyseal dysplasia10.1
47immunodeficiency 3010.0COL2A1, COMP, SLC26A2
48pars planitis10.0COL2A1, COMP, SLC26A2
49ischemic bone disease10.0COL2A1, COMP, SLC26A2
50vulvovaginal candidiasis10.0COL2A1, COMP, SLC26A2

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

Symptoms:

 52 (show all 43)
  • cryptorchidism
  • cleft palate
  • macrocephaly
  • full cheeks
  • hypertelorism
  • micrognathia
  • hearing impairment
  • low-set, posteriorly rotated ears
  • overfolded helix
  • blue sclerae
  • abnormality of the ribs
  • abnormality of the clavicle
  • abnormality of the metaphyses
  • hyperextensible skin
  • abnormality of the metacarpal bones
  • muscular hypotonia
  • joint dislocation
  • hip dysplasia
  • joint stiffness
  • intrauterine growth retardation
  • respiratory insufficiency
  • recurrent respiratory infections
  • cerebral calcification
  • scoliosis
  • kyphosis
  • micromelia
  • elbow dislocation
  • abnormal form of the vertebral bodies
  • depressed nasal bridge
  • joint hyperflexibility
  • abnormality of epiphysis morphology
  • bowing of the long bones
  • hypoplastic cervical vertebrae
  • neonatal short-limb short stature
  • short finger
  • ulnar deviation of finger
  • proximal placement of thumb
  • large earlobe
  • symphalangism affecting the phalanges of the hand
  • increased bone mineral density
  • midface retrusion
  • camptodactyly of finger
  • visceral angiomatosis

HPO human phenotypes related to Diastrophic Dysplasia:

(show all 61)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 malar flattening hallmark (90%) HP:0000272
3 abnormality of the ribs hallmark (90%) HP:0000772
4 abnormality of the clavicle hallmark (90%) HP:0000889
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 brachydactyly syndrome hallmark (90%) HP:0001156
7 abnormality of the metacarpal bones hallmark (90%) HP:0001163
8 intrauterine growth retardation hallmark (90%) HP:0001511
9 scoliosis hallmark (90%) HP:0002650
10 micromelia hallmark (90%) HP:0002983
11 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
12 depressed nasal bridge hallmark (90%) HP:0005280
13 bowing of the long bones hallmark (90%) HP:0006487
14 proximal placement of thumb hallmark (90%) HP:0009623
15 large earlobe hallmark (90%) HP:0009748
16 symphalangism affecting the phalanges of the hand hallmark (90%) HP:0009773
17 increased bone mineral density hallmark (90%) HP:0011001
18 cleft palate typical (50%) HP:0000175
19 full cheeks typical (50%) HP:0000293
20 hypertelorism typical (50%) HP:0000316
21 low-set, posteriorly rotated ears typical (50%) HP:0000368
22 overfolded helix typical (50%) HP:0000396
23 blue sclerae typical (50%) HP:0000592
24 muscular hypotonia typical (50%) HP:0001252
25 limitation of joint mobility typical (50%) HP:0001376
26 respiratory insufficiency typical (50%) HP:0002093
27 recurrent respiratory infections typical (50%) HP:0002205
28 kyphosis typical (50%) HP:0002808
29 abnormality of the hip bone typical (50%) HP:0003272
30 ulnar deviation of finger typical (50%) HP:0009465
31 camptodactyly of finger typical (50%) HP:0100490
32 cryptorchidism occasional (7.5%) HP:0000028
33 micrognathia occasional (7.5%) HP:0000347
34 hearing impairment occasional (7.5%) HP:0000365
35 hyperextensible skin occasional (7.5%) HP:0000974
36 joint hypermobility occasional (7.5%) HP:0001382
37 cerebral calcification occasional (7.5%) HP:0002514
38 elbow dislocation occasional (7.5%) HP:0003042
39 visceral angiomatosis occasional (7.5%) HP:0100761
40 cleft palate HP:0000175
41 hearing impairment HP:0000365
42 glabellar hemangioma HP:0001076
43 hitchhiker thumb HP:0001234
44 hoarse voice HP:0001609
45 talipes equinovarus HP:0001762
46 spinal cord compression HP:0002176
47 kyphoscoliosis HP:0002751
48 cervical kyphosis HP:0002947
49 short long bone HP:0003026
50 flattened epiphysis HP:0003071
51 hip contracture HP:0003273
52 laryngotracheal stenosis HP:0004894
53 costal cartilage calcification HP:0006646
54 hypoplastic cervical vertebrae HP:0008434
55 hypertrophic auricular cartilage HP:0008608
56 disproportionate short-limb short stature HP:0008873
57 neonatal short-limb short stature HP:0008921
58 short finger HP:0009381
59 ulnar deviation of finger HP:0009465
60 irregular epiphyses HP:0010582
61 cystic lesions of the pinnae HP:0010723

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 Dysplasia25 23 SLC26A2

Anatomical Context for Diastrophic Dysplasia

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MalaCards organs/tissues related to Diastrophic Dysplasia:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6BMP2, COL2A1, FN1, SLC26A2, TGFB1
2MP:00053708.3COL2A1, FN1, IL6, SLC26A1, TGFB1
3MP:00053678.2COL2A1, IL6, SLC26A1, SLC26A4, TGFB1
4MP:00053718.1BMP2, COL2A1, COMP, FN1, SLC26A2
5MP:00053817.8BMP2, COL2A1, IL6, SLC26A1, SLC26A3, TGFB1
6MP:00053877.3BMP2, COL2A1, COMP, FN1, IL6, SLC26A1
7MP:00053906.6BMP2, COL2A1, COMP, FN1, IL6, SLC26A2
8MP:00053786.2BMP2, COL2A1, COMP, FN1, IL6, SLC26A2
9MP:00053766.1BMP2, COL2A1, COMP, FN1, IL6, SLC26A1

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 28)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC26A2NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs)deletionLikely pathogenic, Pathogenicrs386833498GRCh38Chr 5, 149981317: 149981317
2SLC26A2NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp)single nucleotide variantPathogenicrs104893915GRCh37Chr 5, 149359991: 149359991
3SLC26A2NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter)single nucleotide variantPathogenicrs104893919GRCh37Chr 5, 149357747: 149357747
4SLC26A2NM_000112.3(SLC26A2): c.1273A> G (p.Asn425Asp)single nucleotide variantPathogenicrs104893920GRCh37Chr 5, 149360429: 149360429
5SLC26A2NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val)single nucleotide variantLikely pathogenic, Pathogenicrs104893916GRCh37Chr 5, 149361189: 149361189
6SLC26A2NM_000112.3(SLC26A2): c.1361A> C (p.Gln454Pro)single nucleotide variantPathogenicrs104893921GRCh37Chr 5, 149360517: 149360517
7SLC26A2NM_000112.3(SLC26A2): c.-26+2T> Csingle nucleotide variantPathogenicrs386833492GRCh37Chr 5, 149340544: 149340544
8SLC26A2NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser)single nucleotide variantPathogenicrs104893924GRCh37Chr 5, 149361113: 149361113
9SLC26A2NM_000112.3(SLC26A2): c.1535C> A (p.Thr512Lys)single nucleotide variantPathogenicrs121908078GRCh37Chr 5, 149360691: 149360691
10SLC26A2NM_000112.3(SLC26A2): c.398C> T (p.Ala133Val)single nucleotide variantPathogenicrs267607055GRCh37Chr 5, 149357613: 149357613
11SLC26A2NM_000112.3(SLC26A2): c.1157C> T (p.Ala386Val)single nucleotide variantLikely pathogenicrs386833493GRCh37Chr 5, 149360313: 149360313
12SLC26A2NM_000112.3(SLC26A2): c.1242_1245delAAAC (p.Asn415Argfs)deletionLikely pathogenicrs386833494GRCh37Chr 5, 149360398: 149360401
13SLC26A2NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs)deletionLikely pathogenicrs386833495GRCh37Chr 5, 149360550: 149360550
14SLC26A2NM_000112.3(SLC26A2): c.1451G> A (p.Gly484Asp)single nucleotide variantLikely pathogenicrs386833496GRCh37Chr 5, 149360607: 149360607
15SLC26A2NM_000112.3(SLC26A2): c.1650delG (p.Ser551Valfs)deletionLikely pathogenicrs386833497GRCh37Chr 5, 149360806: 149360806
16SLC26A2NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs)deletionLikely pathogenicrs386833499GRCh37Chr 5, 149361132: 149361132
17SLC26A2NM_000112.3(SLC26A2): c.1983delA (p.Ala662Glnfs)deletionLikely pathogenicrs386833500GRCh37Chr 5, 149361139: 149361139
18SLC26A2NM_000112.3(SLC26A2): c.2120_2121delTT (p.Leu707Profs)deletionLikely pathogenicrs386833501GRCh37Chr 5, 149361276: 149361277
19SLC26A2NM_000112.3(SLC26A2): c.255delC (p.Asn87Ilefs)deletionLikely pathogenicrs386833502GRCh37Chr 5, 149357470: 149357470
20SLC26A2NM_000112.3(SLC26A2): c.331G> T (p.Asp111Tyr)single nucleotide variantLikely pathogenicrs386833503GRCh37Chr 5, 149357546: 149357546
21SLC26A2NM_000112.3(SLC26A2): c.403C> A (p.Gln135Lys)single nucleotide variantLikely pathogenicrs386833504GRCh37Chr 5, 149357618: 149357618
22SLC26A2NM_000112.3(SLC26A2): c.47C> G (p.Ser16Ter)single nucleotide variantLikely pathogenicrs386833505GRCh37Chr 5, 149357262: 149357262
23SLC26A2NM_000112.3(SLC26A2): c.496G> A (p.Gly166Arg)single nucleotide variantLikely pathogenicrs386833506GRCh37Chr 5, 149357711: 149357711
24SLC26A2NM_000112.3(SLC26A2): c.55G> T (p.Gly19Ter)single nucleotide variantLikely pathogenicrs386833507GRCh37Chr 5, 149357270: 149357270
25SLC26A2NM_000112.3(SLC26A2): c.700-1G> Csingle nucleotide variantLikely pathogenicrs200963884GRCh37Chr 5, 149359855: 149359855
26SLC26A2NM_000112.3(SLC26A2): c.705_711delGATGGGC (p.Met236Serfs)deletionLikely pathogenicrs386833508GRCh37Chr 5, 149359861: 149359867
27SLC26A2NM_000112.3(SLC26A2): c.906_907delCT (p.Cys303Terfs)deletionLikely pathogenicrs386833509GRCh37Chr 5, 149360062: 149360063
28SLC26A2NM_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
1proteinaceous extracellular matrixGO:00055788.9COL2A1, COMP, FN1, TGFB1
2extracellular matrixGO:00310128.8COL2A1, COMP, FN1, TGFB1
3extracellular spaceGO:00056157.3BMP2, COL2A1, COMP, FN1, IL6, TGFB1
4extracellular regionGO:00055767.0BMP2, COL2A1, COMP, FN1, IL6, TGFB1

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
13-phosphoadenosine 5-phosphosulfate biosynthetic processGO:005042810.6SLC26A1, SLC26A2
2proteoglycan metabolic processGO:000602910.2BMP2, COL2A1
3sulfate transportGO:000827210.2SLC26A1, SLC26A2, SLC26A4
4pathway-restricted SMAD protein phosphorylationGO:006038910.1BMP2, TGFB1
5positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.1BMP2, TGFB1
6positive regulation of odontogenesisGO:004248210.0BMP2, TGFB1
7positive regulation of bone mineralizationGO:003050110.0BMP2, TGFB1
8positive regulation of chemotaxisGO:00509219.9FN1, TGFB1
9response to ischemiaGO:00029319.9FN1, SLC26A5
10epithelial to mesenchymal transitionGO:00018379.9BMP2, TGFB1
11positive regulation of epithelial to mesenchymal transitionGO:00107189.9BMP2, TGFB1
12cell activationGO:00017759.8FN1, TGFB1
13response to auditory stimulusGO:00109969.7IL6, SLC26A5
14ion transportGO:00068119.5SLC26A1, SLC26A2, SLC26A3, SLC26A4
15chondrocyte differentiationGO:00020629.5BMP2, COL2A1, TGFB1
16sensory perception of soundGO:00076059.5COL2A1, SLC26A4, SLC26A5
17inner ear developmentGO:00488399.4BMP2, COL2A1, TGFB1
18skeletal system developmentGO:00015019.4BMP2, COL2A1, COMP
19sulfate transmembrane transportGO:19023589.4SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
20oxalate transportGO:00195329.4SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
21regulation of intracellular pHGO:00514539.3SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
22chloride transmembrane transportGO:19024769.2SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
23extracellular matrix organizationGO:00301989.2COL2A1, COMP, FN1
24cellular response to BMP stimulusGO:00717739.2BMP2, COL2A1, FN1
25bicarbonate transportGO:00157019.1SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
26cellular response to dexamethasone stimulusGO:00715499.0IL6, TGFB1
27response to woundingGO:00096118.9FN1, IL6, TGFB1
28regulation of membrane potentialGO:00423918.9SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
29regulation of cell shapeGO:00083608.9FN1, IL6, SLC26A5
30wound healingGO:00420608.5FN1, IL6, TGFB1
31positive regulation of gene expressionGO:00106287.7BMP2, FN1, IL6, TGFB1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transporter activityGO:00151089.9SLC26A1, SLC26A3, SLC26A4
2oxalate transmembrane transporter activityGO:00195319.2SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
3secondary active sulfate transmembrane transporter activityGO:00082719.2SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
4sulfate transmembrane transporter activityGO:00151169.2SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
5anion:anion antiporter activityGO:00153019.2SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
6bicarbonate transmembrane transporter activityGO:00151069.1SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
7chloride channel activityGO:00052549.0SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
8growth factor activityGO:00080838.6BMP2, IL6, TGFB1
9cytokine activityGO:00051258.3BMP2, IL6, TGFB1

Sources for Diastrophic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet