DD
MCID: DST005
MIFTS: 59

Diastrophic Dysplasia (DD) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Diastrophic Dysplasia

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Genetics Home Reference:21 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.

MalaCards based summary: Diastrophic Dysplasia, also known as diastrophic dwarfism, is related to atelosteogenesis and achondrogenesis, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, depressed premaxillary region/midface and depressed nasal bridge. An important gene associated with Diastrophic Dysplasia is SLC26A2 (solute carrier family 26 (anion exchanger), member 2), and among its related pathways are Focal adhesion and Degradation of the extracellular matrix. The compounds oxalate and iodide have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related mouse phenotypes are skeleton and limbs/digits/tail.

Disease Ontology:8 An osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the slc26a2 gene which results in short limb dwarfism.

Wikipedia:65 Diastrophic dysplasia (DTD) is an autosomal recessivedysplasia which affects cartilage and bone... more...

Description from OMIM:46 222600

GeneReviews summary for diastrophic-d

Aliases & Classifications for Diastrophic Dysplasia

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 57SNOMED-CT, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Diastrophic Dysplasia, Aliases & Descriptions:

Name: Diastrophic Dysplasia 8 9 19 42 20 22 21 46 10 44 48 62
Diastrophic Dwarfism 19 42 21 48
 
Dtd 42 21
Dd 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
diastrophic dysplasia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology8 DOID:14687
MeSH34 C536170
OMIM46 222600
SNOMED-CT57 58561002
ICD10 via Orphanet26 Q77.5
UMLS via Orphanet63 C0220726

Related Diseases for Diastrophic Dysplasia

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

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1atelosteogenesis31.0SLC26A5, SLC26A2
2achondrogenesis30.7SLC26A5, SLC26A2
3dwarfism30.7COL2A1, COMP
4multiple epiphyseal dysplasia30.5COMP, SLC26A2
5pseudoachondroplasia30.5SLC26A2, COMP
6osteoarthritis29.5COL2A1, COMP
7chondrodysplasia10.5
8cervicitis10.4
9hypertension10.3
10artery disease10.3
11osteochondrodysplasia10.3COL2A1
12otosclerosis10.3
13diastrophic dysplasia, broad bone-platyspondylic variant10.3
14diabetic nephropathy10.3
15endotheliitis10.3
16denys-drash syndrome10.2
17myocardial infarction10.2
18spondyloepimetaphyseal dysplasia10.2COMP
19leprosy10.2
20cerebral palsy10.1
21obesity10.1
22spondyloepiphyseal dysplasia congenita10.1
23cleft palate10.1
24achondrogenesis type ib10.1
25cerebritis10.1
26atelosteogenesis type 210.1
27pseudodiastrophic dysplasia10.1
28spasticity10.1
29clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly10.1
30infantile parkinsonism-dystonia10.1
31acute myocardial infarction10.1
32diabetes mellitus10.1
33end stage renal failure10.1
34lepromatous leprosy10.1
35sarcoidosis10.1
36developmental disabilities10.1
37relapsing polychondritis10.0COL2A1, COMP
38osteoporosis10.0SLC26A2, COL2A1
39pendred syndrome10.0SLC26A3, SLC26A5, SLC26A2
40atherosclerosis9.9
41chronic obstructive pulmonary disease9.9
42colorectal cancer9.9
43dilated cardiomyopathy9.9
44gastric cancer9.9
45prostate cancer9.9
46pulmonary hypertension9.9
47systemic lupus erythematosus9.9
48type 2 diabetes mellitus9.9
49acute pancreatitis9.9
50rhinosporidiosis9.9

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:

48 (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 65)
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 clavicles 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 short stature hallmark (90%) HP:0004322
13 depressed nasal bridge hallmark (90%) HP:0005280
14 abnormality of the epiphyses hallmark (90%) HP:0005930
15 bowing of the long bones hallmark (90%) HP:0006487
16 proximal placement of thumb hallmark (90%) HP:0009623
17 large earlobe hallmark (90%) HP:0009748
18 symphalangism affecting the phalanges of the hand hallmark (90%) HP:0009773
19 increased bone mineral density hallmark (90%) HP:0011001
20 cleft palate typical (50%) HP:0000175
21 full cheeks typical (50%) HP:0000293
22 hypertelorism typical (50%) HP:0000316
23 low-set, posteriorly rotated ears typical (50%) HP:0000368
24 overfolded helix typical (50%) HP:0000396
25 blue sclerae typical (50%) HP:0000592
26 muscular hypotonia typical (50%) HP:0001252
27 joint dislocation typical (50%) HP:0001373
28 limitation of joint mobility typical (50%) HP:0001376
29 respiratory insufficiency typical (50%) HP:0002093
30 recurrent respiratory infections typical (50%) HP:0002205
31 kyphosis typical (50%) HP:0002808
32 abnormality of the hip bone typical (50%) HP:0003272
33 ulnar deviation of finger typical (50%) HP:0009465
34 camptodactyly of finger typical (50%) HP:0100490
35 cryptorchidism occasional (7.5%) HP:0000028
36 micrognathia occasional (7.5%) HP:0000347
37 hearing impairment occasional (7.5%) HP:0000365
38 hyperextensible skin occasional (7.5%) HP:0000974
39 joint hypermobility occasional (7.5%) HP:0001382
40 cerebral calcification occasional (7.5%) HP:0002514
41 elbow dislocation occasional (7.5%) HP:0003042
42 visceral angiomatosis occasional (7.5%) HP:0100761
43 autosomal recessive inheritance HP:0000007
44 cleft palate HP:0000175
45 hearing impairment HP:0000365
46 glabellar hemangioma HP:0001076
47 hitchhiker thumb HP:0001234
48 hoarse voice HP:0001609
49 talipes equinovarus HP:0001762
50 spinal cord compression HP:0002176
51 kyphoscoliosis HP:0002751
52 cervical kyphosis HP:0002947
53 short long bones HP:0003026
54 flattened epiphyses HP:0003071
55 hip contracture HP:0003273
56 laryngotracheal stenosis HP:0004894
57 costal cartilage calcification HP:0006646
58 hypoplastic cervical vertebrae HP:0008434
59 hypertrophic auricular cartilage HP:0008608
60 disproportionate short-limb short stature HP:0008873
61 neonatal short-limb short stature HP:0008921
62 short finger HP:0009381
63 ulnar deviation of finger HP:0009465
64 irregular epiphyses HP:0010582
65 cystic lesions of the pinnae HP:0010723

Drugs & Therapeutics for Diastrophic Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Diastrophic Dysplasia

Search NIH Clinical Center for Diastrophic Dysplasia

Genetic Tests for Diastrophic Dysplasia

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Genetic tests related to Diastrophic Dysplasia:

id Genetic test Affiliating Genes
1 Diastrophic Dysplasia20 22 SLC26A2

Anatomical Context for Diastrophic Dysplasia

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MalaCards organs/tissues related to Diastrophic Dysplasia:

32
Bone, Skin, Testes, Lung, Cortex, Adrenal cortex

Animal Models for Diastrophic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Diastrophic Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.6SLC26A2, COL2A1, COMP
2MP:00053718.3COMP, COL2A1, SLC26A2
3MP:00053787.4SLC26A5, SLC26A3, SLC26A2, COL2A1, COMP

Publications for Diastrophic Dysplasia

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Articles related to Diastrophic Dysplasia:

(show top 50)    (show all 103)
idTitleAuthorsYear
1
Diastrophic dysplasia - variant. (24632705)
2014
2
Not just cerebral palsy: diastrophic dysplasia presenting as spastic quadriparesis. (24679608)
2014
3
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
4
Diastrophic dysplasia: prenatal diagnosis and review of the literature. (23657516)
2013
5
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. (21077202)
2010
6
Diastrophic dysplasia in a seven-year-old girl. Case study. (20693580)
2010
7
Treatment of spinal deformities in patients with diastrophic dysplasia: a long-term, population based, retrospective outcome study. (19752701)
2009
8
Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly. (18056413)
2007
9
Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. (17602446)
2007
10
The diagnosis of art: diastrophic dysplasia and Hephaistos. (22135839)
2006
11
Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. (15308906)
2004
12
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. (15316973)
2004
13
Diastrophic dysplasia: prenatal three-dimensional ultrasound findings. (15027028)
2004
14
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. (15294877)
2004
15
Early degeneration of the knee in diastrophic dysplasia: an MRI study. (14581774)
2003
16
Total hip arthroplasty in diastrophic dysplasia. (12637429)
2003
17
Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation. (12854932)
2003
18
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. (14600463)
2003
19
Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia? (12193993)
2002
20
Lung function in diastrophic dysplasia. (11921457)
2002
21
Scoliosis in patients with diastrophic dysplasia: a new classification. (11474356)
2001
22
Manubrium sterni in patients with diastrophic dysplasia--radiological analysis of 50 patients. (11550766)
2001
23
Cervical spine in diastrophic dysplasia: an MRI analysis. (10641688)
2000
24
Cervical kyphosis in diastrophic dysplasia. (10528373)
1999
25
Health-related quality of life in patients with diastrophic dysplasia. (10847669)
1999
26
The spine in diastrophic dysplasia. The surgical arthrodesis of thoracic and lumbar deformities in 21 patients. (10586456)
1999
27
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. (10466420)
1999
28
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). (10482955)
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

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Clinvar genetic disease variations for Diastrophic Dysplasia:

6 (show all 30)
id Gene Name Type Significance SNP ID Assembly Location
1SLC26A2SLC26A2, 1-BP DEL, 1751AdeletionPathogenic
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 variantPathogenicrs104893916GRCh37Chr 5, 149361189: 149361189
6SLC26A2NM_000112.3(SLC26A2): c.1361A> C (p.Gln454Pro)single nucleotide variantPathogenicrs104893921GRCh37Chr 5, 149360517: 149360517
7SLC26A2SLC26A2, IVS1DS, T-C, +2single nucleotide variantPathogenic
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.-26+2T> Csingle nucleotide variantPathogenicrs386833492GRCh37Chr 5, 149340544: 149340544
12SLC26A2NM_000112.3(SLC26A2): c.1157C> T (p.Ala386Val)single nucleotide variantLikely pathogenicrs386833493GRCh37Chr 5, 149360313: 149360313
13SLC26A2NM_000112.3(SLC26A2): c.1242_1245delAAAC (p.Asn415Argfs)deletionLikely pathogenicrs386833494GRCh37Chr 5, 149360398: 149360401
14SLC26A2NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs)deletionLikely pathogenicrs386833495GRCh37Chr 5, 149360550: 149360550
15SLC26A2NM_000112.3(SLC26A2): c.1451G> A (p.Gly484Asp)single nucleotide variantLikely pathogenicrs386833496GRCh37Chr 5, 149360607: 149360607
16SLC26A2NM_000112.3(SLC26A2): c.1650delG (p.Ser551Valfs)deletionLikely pathogenicrs386833497GRCh37Chr 5, 149360806: 149360806
17SLC26A2NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs)deletionLikely pathogenicrs386833498GRCh37Chr 5, 149360880: 149360880
18SLC26A2NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs)deletionLikely pathogenicrs386833499GRCh37Chr 5, 149361132: 149361132
19SLC26A2NM_000112.3(SLC26A2): c.1983delA (p.Ala662Glnfs)deletionLikely pathogenicrs386833500GRCh37Chr 5, 149361139: 149361139
20SLC26A2NM_000112.3(SLC26A2): c.2120_2121delTT (p.Leu707Profs)deletionLikely pathogenicrs386833501GRCh37Chr 5, 149361276: 149361277
21SLC26A2NM_000112.3(SLC26A2): c.255delC (p.Asn87Ilefs)deletionLikely pathogenicrs386833502GRCh37Chr 5, 149357470: 149357470
22SLC26A2NM_000112.3(SLC26A2): c.331G> T (p.Asp111Tyr)single nucleotide variantLikely pathogenicrs386833503GRCh37Chr 5, 149357546: 149357546
23SLC26A2NM_000112.3(SLC26A2): c.403C> A (p.Gln135Lys)single nucleotide variantLikely pathogenicrs386833504GRCh37Chr 5, 149357618: 149357618
24SLC26A2NM_000112.3(SLC26A2): c.47C> G (p.Ser16Ter)single nucleotide variantLikely pathogenicrs386833505GRCh37Chr 5, 149357262: 149357262
25SLC26A2NM_000112.3(SLC26A2): c.496G> A (p.Gly166Arg)single nucleotide variantLikely pathogenicrs386833506GRCh37Chr 5, 149357711: 149357711
26SLC26A2NM_000112.3(SLC26A2): c.55G> T (p.Gly19Ter)single nucleotide variantLikely pathogenicrs386833507GRCh37Chr 5, 149357270: 149357270
27SLC26A2NM_000112.3(SLC26A2): c.700-1G> Csingle nucleotide variantLikely pathogenicrs200963884GRCh37Chr 5, 149359855: 149359855
28SLC26A2NM_000112.3(SLC26A2): c.705_711delGATGGGC (p.Met236Serfs)deletionLikely pathogenicrs386833508GRCh37Chr 5, 149359861: 149359867
29SLC26A2NM_000112.3(SLC26A2): c.906_907delCT (p.Cys303Terfs)deletionLikely pathogenicrs386833509GRCh37Chr 5, 149360062: 149360063
30SLC26A2NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del)deletionPathogenicrs121908077GRCh37Chr 5, 149360176: 149360178

Expression for genes affiliated with Diastrophic Dysplasia

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Expression patterns in normal tissues for genes affiliated with Diastrophic Dysplasia

Search GEO for disease gene expression data for Diastrophic Dysplasia.

Pathways for genes affiliated with Diastrophic Dysplasia

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Pathways related to Diastrophic Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.0COL2A1, COMP
2
Show member pathways
9.0COL2A1, COMP
39.0COL2A1, COMP

Compounds for genes affiliated with Diastrophic Dysplasia

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Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Diastrophic Dysplasia according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1oxalate449.8SLC26A5, SLC26A2
2iodide44 2410.7SLC26A2, SLC26A5
3formate449.7SLC26A5, SLC26A2
4Hydrogen carbonate249.7SLC26A5, SLC26A3
5chlorine44 2410.5SLC26A3, SLC26A5
6pentosidine449.3COL2A1, COMP
7bicarbonate449.3SLC26A2, SLC26A3, SLC26A5
8pyridinoline449.3COL2A1, COMP
9chloride449.3SLC26A2, SLC26A3, SLC26A5
10alginate449.2COL2A1, COMP
11procollagen449.2COMP, COL2A1
12glycosaminoglycan449.1COL2A1, COMP
13agarose449.0COL2A1, COMP
14vitamin d449.0COL2A1, COMP
15cysteine448.5COMP, COL2A1, SLC26A2
16lipid448.2SLC26A5, COL2A1, COMP
17sulfate44 248.8SLC26A5, SLC26A3, SLC26A2, COL2A1, COMP

GO Terms for genes affiliated with Diastrophic Dysplasia

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Biological processes related to Diastrophic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:0076059.3SLC26A5, COL2A1
2ion transportGO:0068119.2SLC26A3, SLC26A2
3extracellular matrix organizationGO:0301989.0COL2A1, COMP
4skeletal system developmentGO:0015018.9COL2A1, COMP

Molecular functions related to Diastrophic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secondary active sulfate transmembrane transporter activityGO:0082719.0SLC26A5, SLC26A3, SLC26A2

Products for genes affiliated with Diastrophic Dysplasia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Diastrophic Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet