MCID: DST005
MIFTS: 56

Diastrophic Dysplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Diastrophic Dysplasia

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Diastrophic Dysplasia:

Name: Diastrophic Dysplasia 49 10 11 21 45 22 23 47 12 51 24 65 36 67
Diastrophic Dwarfism 21 45 22 23 51 67
Dtd 45 22 23 67
 
Dd 45 67
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 49


Classifications:



Characteristics (Orphanet epidemiological data):

51
diastrophic dysplasia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 222600
Disease Ontology10 DOID:14687
Orphanet51 628
SNOMED-CT59 58561002
ICD10 via Orphanet28 Q77.5
UMLS via Orphanet66 C0220726

Summaries for Diastrophic Dysplasia

About this section
NIH Rare Diseases:45 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 vascular cancer and darier disease, 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 (Anion Exchanger), Member 2), and among its related pathways are Articular Cartilage Extracellular Matrix and IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types. Affiliated tissues include bone, skin and testes, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:10 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:23 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:67 Diastrophic dysplasia: An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities.

Wikipedia:68 Diastrophic dysplasia (DTD) is an autosomal recessivedysplasia which affects cartilage and bone... more...

Description from OMIM:49 222600

GeneReviews summary for diastrophic-d

Related Diseases for Diastrophic Dysplasia

About this section

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

(show top 50)    (show all 189)
idRelated DiseaseScoreTop Affiliating Genes
1vascular cancer30.1FN1, IL6
2darier disease30.0COL2A1, COMP, SLC26A2
3dwarfism10.6
4atelosteogenesis10.5
5cervicitis10.5
6parkinsonism-dystonia, infantile10.4
7pseudoachondroplasia10.3
8otosclerosis10.3
9multiple epiphyseal dysplasia10.3
10achondrogenesis10.3
11coronary artery disease10.3
12artery disease10.3
13endotheliitis10.3
14denys-drash syndrome10.3
15leber congenital amaurosis 310.2COL2A1, SLC26A2
16atelosteogenesis ii10.2SLC26A1, SLC26A2
17synovial chondromatosis, familial with dwarfism10.2BMP2, COL2A1
18myocardial infarction10.2
19chronic diarrhea due to guanylate cyclase 2c overactivity10.2SLC26A2, SLC26A3
20larynx sarcoma10.2IL6, TGFB1
21kidney clear cell sarcoma10.2FN1, TGFB1
22obesity10.2
23clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly10.2
24cerebral palsy10.2
25spondylolysis10.2
26cerebritis10.2
27scoliosis10.2
28pseudodiastrophic dysplasia10.2
29spasticity10.2
30posterior valve urethra10.2IL6, TGFB1
31vesicoureteral reflux10.2FN1, TGFB1
32vaginal glandular tumor10.2FN1, IL6
33brachydactyly, type a1, c10.1COL2A1, COMP
34leprosy10.1
35osteonecrosis10.1COL2A1, TGFB1
36achondrogenesis, type ii or hypochondrogenesis10.1COL2A1, COMP
37splenic flexure cancer10.1BMP2, SLC26A2, TGFB1
38brucella suis brucellosis10.1COMP, IL6
39distal arthrogryposis10.1COMP, SLC26A2
40pneumonia10.1FN1, IL6, TGFB1
41acquired metabolic disease10.1COL2A1, COMP, SLC26A2
42slc16a1-related hyperinsulinism10.1COL2A1, COMP, SLC26A2
43epidermolysis bullosa dystrophica10.1FN1, IL6, TGFB1
44osteogenesis imperfecta congenita microcephaly and cataracts10.1BMP2, TGFB1
45skeleto cardiac syndrome with thrombocytopenia10.1COL2A1, COMP, SLC26A2
46epiphyseal dysplasia, multiple, 110.1COL2A1, COMP, SLC26A2
47osteomyelitis10.1COL2A1, COMP, SLC26A2
48urethra adenocarcinoma10.1FN1, TGFB1
49prostate cancer10.1
50mohr-tranebjaerg syndrome10.1

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



Diseases related to diastrophic dysplasia

Symptoms for Diastrophic Dysplasia

About this section

Symptoms by clinical synopsis from OMIM:

222600

Clinical features from OMIM:

222600

Symptoms:

 51 (show all 45)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • depressed premaxillary region/midface
  • depressed nasal bridge
  • thick/wide ear lobe
  • clavicle absent/abnormal
  • rib structure anomalies
  • scoliosis
  • abnormal vertebral size/shape
  • short limbs/micromelia/brachymelia
  • rhizomelic micromelia
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • symphalangy of fingers
  • proximally set thumb
  • osteosclerosis/osteopetrosis/bone condensation
  • metaphyseal anomaly
  • epiphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • broad cheeks/cherub-like/cherubin face
  • hypertelorism
  • blue sclerae
  • cleft lip and palate
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • folded helix
  • kyphosis
  • camptodactyly of fingers
  • ulnar deviation of fingers
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • repeat respiratory infections
  • hypotonia
  • restricted joint mobility/joint stiffness/ankylosis
  • joint dislocation/subluxation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • micrognathia/retrognathia/micrognathism/retrognathism
  • hearing loss/hypoacusia/deafness
  • hyperelastic skin/cutaneous hyperlaxity
  • visceral angiomatosis (excluding skin)
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • intracranial/cerebral calcifications
  • hyperextensible joints/articular hyperlaxity
  • elbow dislocation

HPO human phenotypes related to Diastrophic Dysplasia:

(show all 62)
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 autosomal recessive inheritance HP:0000007
41 cleft palate HP:0000175
42 hearing impairment HP:0000365
43 glabellar hemangioma HP:0001076
44 hitchhiker thumb HP:0001234
45 hoarse voice HP:0001609
46 talipes equinovarus HP:0001762
47 spinal cord compression HP:0002176
48 kyphoscoliosis HP:0002751
49 cervical kyphosis HP:0002947
50 short long bone HP:0003026
51 flattened epiphysis HP:0003071
52 hip contracture HP:0003273
53 laryngotracheal stenosis HP:0004894
54 costal cartilage calcification HP:0006646
55 hypoplastic cervical vertebrae HP:0008434
56 hypertrophic auricular cartilage HP:0008608
57 disproportionate short-limb short stature HP:0008873
58 neonatal short-limb short stature HP:0008921
59 short finger HP:0009381
60 ulnar deviation of finger HP:0009465
61 irregular epiphyses HP:0010582
62 cystic lesions of the pinnae HP:0010723

Drugs & Therapeutics for Diastrophic Dysplasia

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Diastrophic Dysplasia


Cochrane evidence based reviews: Diastrophic dysplasia

Genetic Tests for Diastrophic Dysplasia

About this section

Genetic tests related to Diastrophic Dysplasia:

id Genetic test Affiliating Genes
1 Diastrophic Dysplasia22 24 SLC26A2

Anatomical Context for Diastrophic Dysplasia

About this section

MalaCards organs/tissues related to Diastrophic Dysplasia:

33
Bone, Skin, Testes, Lung, Cortex, Spinal cord, Adrenal cortex

Animal Models for Diastrophic Dysplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Diastrophic Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7BMP2, COL2A1, COMP, FN1, SLC26A2
2MP:00053828.2BMP2, COL2A1, FN1, SLC26A2, TGFB1
3MP:00053678.0COL2A1, IL6, SLC26A1, SLC26A4, TGFB1
4MP:00053817.8BMP2, COL2A1, IL6, SLC26A1, SLC26A3, TGFB1
5MP:00053907.8BMP2, COL2A1, COMP, FN1, IL6, SLC26A2
6MP:00053786.4BMP2, COL2A1, COMP, FN1, IL6, SLC26A2

Publications for Diastrophic Dysplasia

About this section

Articles related to Diastrophic Dysplasia:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene. (26077908)
2015
2
Gait Pattern and Lower Extremity Alignment in Children With Diastrophic Dysplasia. (26296216)
2015
3
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia. (26206888)
2015
4
Diastrophic dysplasia - variant. (24632705)
2014
5
Not just cerebral palsy: diastrophic dysplasia presenting as spastic quadriparesis. (24679608)
2014
6
Corrections of lower limb deformities in patients with diastrophic dysplasia. (25430710)
2014
7
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
8
Diastrophic dysplasia: prenatal diagnosis and review of the literature. (23657516)
2013
9
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. (21077202)
2010
10
Treatment of spinal deformities in patients with diastrophic dysplasia: a long-term, population based, retrospective outcome study. (19752701)
2009
11
Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly. (18056413)
2007
12
Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. (17602446)
2007
13
The diagnosis of art: diastrophic dysplasia and Hephaistos. (22135839)
2006
14
Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. (15308906)
2004
15
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. (15316973)
2004
16
Diastrophic dysplasia: prenatal three-dimensional ultrasound findings. (15027028)
2004
17
Early degeneration of the knee in diastrophic dysplasia: an MRI study. (14581774)
2003
18
Total hip arthroplasty in diastrophic dysplasia. (12637429)
2003
19
Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation. (12854932)
2003
20
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. (14600463)
2003
21
Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia? (12193993)
2002
22
Scoliosis in patients with diastrophic dysplasia: a new classification. (11474356)
2001
23
Manubrium sterni in patients with diastrophic dysplasia--radiological analysis of 50 patients. (11550766)
2001
24
Cervical spine in diastrophic dysplasia: an MRI analysis. (10641688)
2000
25
Cervical kyphosis in diastrophic dysplasia. (10528373)
1999
26
Health-related quality of life in patients with diastrophic dysplasia. (10847669)
1999
27
The spine in diastrophic dysplasia. The surgical arthrodesis of thoracic and lumbar deformities in 21 patients. (10586456)
1999
28
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. (10466420)
1999
29
Development of the hip in diastrophic dysplasia. (9546468)
1998
30
Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity. (9602486)
1998
31
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. (9575183)
1998
32
Correlation between speech outcome and cephalometric dimensions in patients with diastrophic dysplasia. (9594377)
1998
33
Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia. (9415482)
1997
34
Growth in diastrophic dysplasia. (9108864)
1997
35
Phenotypic features of dentition in diastrophic dysplasia. (8872707)
1996
36
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. (8528239)
1996
37
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. (8931695)
1996
38
Abnormal collagen cross-linking in the cartilage of a diastrophic dysplasia patient. (7633791)
1995
39
Abnormality of type IX collagen in a patient with diastrophic dysplasia. (8160734)
1994
40
Diastrophic dysplasia. (7896341)
1994
41
Diastrophic Dysplasia (20301524)
1993
42
Foot deformities in diastrophic dysplasia. An analysis of 102 patients. (1587898)
1992
43
Diastrophic dysplasia: a case report. (1340866)
1992
44
Light and electron microscopic abnormalities in diastrophic dysplasia growth cartilage. (1422977)
1992
45
Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. (1978318)
1990
46
Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia. (2732992)
1989
47
Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound. (3065771)
1988
48
Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks. (3300333)
1987
49
Abnormal pattern of segment long spacing (SLS) cartilage collagen in diastrophic dysplasia. (7105649)
1982
50
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. (6298815)
1982

Variations for Diastrophic Dysplasia

About this section

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

About this section
Search GEO for disease gene expression data for Diastrophic Dysplasia.

Pathways for genes affiliated with Diastrophic Dysplasia

About this section

GO Terms for genes affiliated with Diastrophic Dysplasia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:00058878.5SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
2proteinaceous extracellular matrixGO:00055788.5COL2A1, COMP, FN1, TGFB1
3extracellular spaceGO:00056157.4BMP2, COL2A1, COMP, FN1, IL6, TGFB1
4extracellular regionGO:00055767.1BMP2, COL2A1, COMP, FN1, IL6, TGFB1

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
13-phosphoadenosine 5-phosphosulfate biosynthetic processGO:005042810.6SLC26A1, SLC26A2
23-phosphoadenosine 5-phosphosulfate metabolic processGO:005042710.6SLC26A1, SLC26A2
3anion transportGO:000682010.2SLC26A3, SLC26A8
4sperm capacitationGO:004824010.2SLC26A3, SLC26A8
5response to auditory stimulusGO:001099610.2IL6, SLC26A5
6proteoglycan metabolic processGO:000602910.0BMP2, COL2A1
7cellular response to BMP stimulusGO:00717739.9BMP2, COL2A1
8positive regulation of epithelial to mesenchymal transitionGO:00107189.8BMP2, TGFB1
9pathway-restricted SMAD protein phosphorylationGO:00603899.8BMP2, TGFB1
10positive regulation of bone mineralizationGO:00305019.7BMP2, TGFB1
11positive regulation of odontogenesisGO:00424829.7BMP2, TGFB1
12ion transportGO:00068119.6SLC26A1, SLC26A2, SLC26A3, SLC26A4
13sensory perception of soundGO:00076059.6COL2A1, SLC26A4, SLC26A5
14anion transmembrane transportGO:00986569.6SLC26A1, SLC26A3, SLC26A5, SLC26A8
15skeletal system developmentGO:00015019.5BMP2, COL2A1, COMP
16chloride transportGO:00068219.4SLC26A1, SLC26A3, SLC26A4, SLC26A8
17cellular response to dexamethasone stimulusGO:00715499.4IL6, TGFB1
18regulation of cell shapeGO:00083609.3FN1, IL6, SLC26A5
19transmembrane transportGO:00550859.2SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
20chondrocyte differentiationGO:00020629.2BMP2, COL2A1, TGFB1
21inner ear developmentGO:00488399.1BMP2, COL2A1, TGFB1
22response to woundingGO:00096119.1FN1, IL6, TGFB1
23sulfate transportGO:00082728.9SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
24oxalate transportGO:00195328.9SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
25regulation of intracellular pHGO:00514538.9SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
26sulfate transmembrane transportGO:19023588.9SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
27bicarbonate transportGO:00157018.9SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
28chloride transmembrane transportGO:19024768.8SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
29wound healingGO:00420608.5FN1, IL6, TGFB1
30positive regulation of gene expressionGO:00106288.4BMP2, FN1, IL6, TGFB1
31regulation of membrane potentialGO:00423918.3SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
32extracellular matrix organizationGO:00301987.6BMP2, COL2A1, COMP, FN1, TGFB1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transporter activityGO:001510810.0SLC26A1, SLC26A3, SLC26A4
2secondary active sulfate transmembrane transporter activityGO:00082718.8SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
3bicarbonate transmembrane transporter activityGO:00151068.8SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
4sulfate transmembrane transporter activityGO:00151168.8SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
5anion:anion antiporter activityGO:00153018.8SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
6oxalate transmembrane transporter activityGO:00195318.8SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
7cytokine activityGO:00051258.7BMP2, IL6, TGFB1
8growth factor activityGO:00080838.7BMP2, IL6, TGFB1
9chloride channel activityGO:00052548.5SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8

Sources for Diastrophic Dysplasia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet