MCID: DST005
MIFTS: 58

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

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

HPO:

61
diastrophic dysplasia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 222600
Disease Ontology10 DOID:14687
ICD1027 Q77.5
SNOMED-CT59 58561002
Orphanet51 628
ICD10 via Orphanet28 Q77.5
UMLS via Orphanet66 C0220726
UMLS65 C0220726

Summaries for Diastrophic Dysplasia

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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 darier disease and parkinsonism-dystonia, infantile, and has symptoms including increased bone mineral density, symphalangism affecting the phalanges of the hand and large earlobe. An important gene associated with Diastrophic Dysplasia is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways are Articular Cartilage Extracellular Matrix Pathway and ECM-receptor interaction. 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 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 152)
idRelated DiseaseScoreTop Affiliating Genes
1darier disease32.1COL2A1, COMP, SLC26A2
2parkinsonism-dystonia, infantile11.8
3denys-drash syndrome11.8
4dentin dysplasia, type ii11.4
5dentin dysplasia, type i, with microdontia and misshapen teeth11.4
6mohr-tranebjaerg syndrome11.4
7dentin dysplasia11.3
8clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly10.5
9leber congenital amaurosis 310.4COL2A1, SLC26A2
10breast cancer10.4
11lymphoma10.4
12hypochondrogenesis10.4COL2A1, SLC26A2
13treacher collins syndrome 110.4SLC26A1, SLC26A2
14dissociative disorder10.4
15achondrogenesis ib10.4SLC26A1, SLC26A2
16t cell immunodeficiency primary10.4IL6, SLC26A2
17mammary paget's disease10.3IL6, TGFB1
18chronic myeloproliferative disease10.3FN1, TGFB1
19b-cell lymphomas10.3
20adenocarcinoma10.3
21cerebritis10.3
22posterior valve urethra10.3IL6, TGFB1
23chronic diarrhea due to guanylate cyclase 2c overactivity10.3SLC26A2, SLC26A3
24episodic ataxia10.3FN1, TGFB1
25thyroiditis10.3IL6, TGFB1
26polyradiculopathy10.3BMP2, IL6
27whipple disease10.3COL2A1, TGFB1
28endotheliitis10.3
29brachydactyly, type a1, c10.3COL2A1, COMP
30optic neuritis10.3FN1, IL6
31dicrocoeliasis10.3BMP2, SLC26A2, TGFB1
32obesity10.2
33esophagitis10.2
34melanoma10.2
35gingivitis10.2
36retinitis10.2
37eyelid neoplasm10.2FN1, IL6
38smed strudwick type10.2COL2A1, COMP
39goiter10.2SLC26A2, SLC26A4
40ophthalmia nodosa10.2FN1, TGFB1
41familial atrial fibrillation10.2COMP, SLC26A2
42cystic echinococcosis10.2IL6, TGFB1
43bone structure disease10.2BMP2, COL2A1
44stickler syndrome10.2COL2A1, COMP
45idiopathic spinal cord herniation10.2IL6, TGFB1
46mixed mineral dust pneumoconiosis10.1FN1, IL6, TGFB1
47slc16a1-related hyperinsulinism10.1COL2A1, COMP, SLC26A2
48skeleto cardiac syndrome with thrombocytopenia10.1COL2A1, COMP, SLC26A2
49epidermolysis bullosa dystrophica10.1FN1, IL6, TGFB1
50ossifying fibroma10.1FN1, IL6, TGFB1

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:

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

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 Dysplasia22 SLC26A2

Anatomical Context for Diastrophic Dysplasia

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MalaCards organs/tissues related to Diastrophic Dysplasia:

33
Bone, Skin, Testes, Lung, Spinal cord, Breast, Prostate

Animal Models for Diastrophic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Diastrophic Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9BMP2, COL2A1, COMP, FN1, SLC26A2
2MP:00053828.2BMP2, COL2A1, FN1, SLC26A2, TGFB1
3MP:00053817.8BMP2, COL2A1, IL6, SLC26A1, SLC26A3, TGFB1
4MP:00053846.8BMP2, FN1, IL6, SLC26A1, SLC26A2, SLC26A3
5MP:00053906.8BMP2, COL2A1, COMP, FN1, IL6, SLC26A2
6MP:00053786.1BMP2, COL2A1, COMP, FN1, IL6, SLC26A2

Publications for Diastrophic Dysplasia

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Articles related to Diastrophic Dysplasia:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Acute Measles Encephalitis in an Immigrant Syrian Child: Case Report and Review of the Literature. (27168928)
2016
2
Pten loss induces autocrine FGF signaling to promote skin tumorigenesis. (24582960)
2014
3
Blue rubber bleb nevus syndrome: a case report and literature review. (25493043)
2014
4
Structural basis for potent inhibition of SIRT2 deacetylase by a macrocyclic peptide inducing dynamic structural change. (24389023)
2014
5
Elevated creatine kinase does not necessarily correspond temporally with onset of muscle rigidity in neuroleptic malignant syndrome: a report of two cases. (23271911)
2012
6
Efficacy and safety of febuxostat in patients with hyperuricemia and gout. (22870483)
2011
7
OxLDL induced p53-dependent apoptosis by activating p38MAPK and PKCI' signaling pathways in J774A.1 macrophage cells. (21920989)
2011
8
Tocopherol transfer protein sensitizes prostate cancer cells to vitamin E. (20826775)
2010
9
Supraorbital neuroma masquerading as local recurrence from a previously excised microcystic adnexal carcinoma. (19648071)
2010
10
Vitronectin receptors, alpha v integrins, are recognized by several non-RGD-containing echoviruses in a continuous laboratory cell line and also in primary human Langerhans' islets and endothelial cells. (19776235)
2010
11
mTOR regulates vascular smooth muscle cell differentiation from human bone marrow-derived mesenchymal progenitors. (19074484)
2009
12
Lys169 of human glucokinase is a determinant for glucose phosphorylation: implication for the atomic mechanism of glucokinase catalysis. (19617908)
2009
13
HSD11B1 polymorphisms predicted bone mineral density and fracture risk in postmenopausal women without a clinically apparent hypercortisolemia. (19651257)
2009
14
An acute ischemic stroke secondary to sphenoid sinusitis. (19924653)
2009
15
Perivascular epithelioid cell tumor of the nasal cavity with TFE3 expression. (19788626)
2009
16
Folic acid transport via high affinity carrier-mediated system in human retinoblastoma cells. (18207340)
2008
17
Positive association between SIAT8B and schizophrenia in the Chinese Han population. (17126533)
2007
18
Alum with interleukin-12 augments immunity to a melanoma peptide vaccine: correlation with time to relapse in patients with resected high-risk disease. (17200357)
2007
19
Effect of ScrF I polymorphism in the 2nd intron of the HMGCR gene on lipid-lowering response to simvastatin in Chinese diabetic patients. (17870053)
2007
20
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes. (17668390)
2007
21
Structure of native protein C inhibitor provides insight into its multiple functions. (17337440)
2007
22
Progesterone regulation of human granulosa/luteal cell viability by an RU486-independent mechanism. (16984987)
2006
23
Anti-opsonic properties of staphylokinase. (15792635)
2005
24
Polyneuropathy from thiamin deficiency associated with thyrotoxicosis. (16519393)
2005
25
Genetic diagnosis and prenatal genetic diagnosis of fragile X syndrome]. (15639835)
2003
26
Relationship between expression of somatostatin receptors subtype 2 mRNA and estrogen and progesterone receptors in breast cancer. (14687472)
2003
27
p38 mitogen-activated protein kinase is activated and linked to TNF-alpha signaling in inflammatory bowel disease. (11994493)
2002
28
Regulation of cytokine mRNAs by interferon and interferon inducers. (12687259)
2002
29
Adherens junctions inhibit asymmetric division in the Drosophila epithelium. (11206549)
2001
30
Crystallization and preliminary X-ray diffraction analysis of human calcium-binding protein S100A12. (10666601)
2000
31
Keratin 17 expression in the hard epithelial context of the hair and nail, and its relevance for the pachyonychia congenita phenotype. (10844551)
2000
32
Dendritic cells express multiple chemokine receptors used as coreceptors for HIV entry. (9558100)
1998
33
Systemic juvenile rheumatoid arthritis complicated by two different renal lesions. (9543367)
1998
34
Expression of fatty acid synthase is closely linked to proliferation and stromal decidualization in cycling endometrium. (8986532)
1997
35
Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired domain. (9224659)
1997
36
Angiographic complications in CADASIL. (9074584)
1997
37
Molecular factors determine primary and secondary therapy of breast carcinoma]. (9381415)
1997
38
Inhibition of neutrophil function by human milk. (8640857)
1996
39
Hematological manifestations of congenital cytomegalovirus infection. (10829908)
1995
40
Myeloperoxidase as a generator of drug free radicals. (8660393)
1995
41
Transforming growth factor-alpha (TGF-alpha) in human bone marrow: demonstration of TGF-alpha in erythroblasts and eosinophilic precursor cells and of epidermal growth factor receptors in blastlike cells of myelomonocytic origin. (7727772)
1995
42
Clinical usefulness of pharmacological treatment of Cushing's syndrome]. (8164384)
1994
43
Phosphorylation of GDI and membrane cycling of rab proteins. (8365473)
1993
44
Pol III-Related Leukodystrophies (22855961)
1993
45
Terbutaline-induced desensitization of polymorphonuclear leukocyte beta 2-adrenergic receptors in young and elderly subjects. (1314156)
1992
46
Factors related to renal haemodynamics in young type-1 diabetes mellitus patients. (2088457)
1990
47
Cloning and expression of a gamma-interferon-inducible gene in monocytes: a new member of a cytokine gene family. (2518726)
1989
48
Congenital aural atresia. (2770382)
1989
49
Elephantiasis of the scrotum. (6804519)
1982
50
Pathology quiz case 3. Lichen myxedematosus (scleromyxedema). (7259228)
1981

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
1membraneGO:00160208.3SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8

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

(show all 37)
idNameGO IDScoreTop Affiliating Genes
13-phosphoadenosine 5-phosphosulfate biosynthetic processGO:005042810.4SLC26A1, SLC26A2
23-phosphoadenosine 5-phosphosulfate metabolic processGO:005042710.4SLC26A1, SLC26A2
3proteoglycan metabolic processGO:000602910.4BMP2, COL2A1
4sulfate transportGO:000827210.1SLC26A4, SLC26A8
5cellular response to BMP stimulusGO:007177310.1COL2A1, FN1
6pathway-restricted SMAD protein phosphorylationGO:006038910.0BMP2, TGFB1
7response to ischemiaGO:00029319.9FN1, SLC26A5
8cell activationGO:00017759.9FN1, TGFB1
9regulation of membrane potentialGO:00423919.9SLC26A1, SLC26A2, SLC26A4
10epithelial to mesenchymal transitionGO:00018379.9BMP2, TGFB1
11SMAD protein signal transductionGO:00603959.9BMP2, TGFB1
12positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.8BMP2, TGFB1
13growthGO:00400079.8BMP2, TGFB1
14response to auditory stimulusGO:00109969.8IL6, SLC26A5
15anion transmembrane transportGO:00986569.7SLC26A3, SLC26A5, SLC26A8
16acute-phase responseGO:00069539.7FN1, IL6
17chondrocyte differentiationGO:00020629.7BMP2, COL2A1, TGFB1
18negative regulation of fat cell differentiationGO:00455999.6IL6, TGFB1
19positive regulation of epithelial to mesenchymal transitionGO:00107189.5BMP2, TGFB1
20inner ear developmentGO:00488399.5BMP2, COL2A1, TGFB1
21cell growthGO:00160499.5IL6, TGFB1
22chloride transportGO:00068219.5SLC26A1, SLC26A3, SLC26A4, SLC26A8
23positive regulation of fibroblast proliferationGO:00481469.4FN1, TGFB1
24regulation of intracellular pHGO:00514539.2SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
25transmembrane transportGO:00550859.2SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5
26cellular response to dexamethasone stimulusGO:00715499.1IL6, TGFB1
27positive regulation of cell migrationGO:00303359.1BMP2, FN1, TGFB1
28response to woundingGO:00096119.0FN1, IL6, TGFB1
29regulation of cell shapeGO:00083608.9FN1, IL6, SLC26A5
30platelet activationGO:00301688.9FN1, IL6, TGFB1
31chloride transmembrane transportGO:19024768.8SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
32oxalate transportGO:00195328.8SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8
33negative regulation of cell proliferationGO:00082858.8BMP2, IL6, TGFB1
34inflammatory responseGO:00069548.8BMP2, IL6, TGFB1
35T cell activationGO:00421108.7IL6, TGFB1
36extracellular matrix organizationGO:00301988.6BMP2, COL2A1, FN1, TGFB1
37positive regulation of gene expressionGO:00106288.1BMP2, FN1, IL6, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:00052549.5SLC26A1, SLC26A3, SLC26A4
2oxalate transmembrane transporter activityGO:00195318.6SLC26A3, SLC26A4, SLC26A5, SLC26A8

Sources for Diastrophic Dysplasia

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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