DTD
MCID: DST005
MIFTS: 53

Diastrophic Dysplasia (DTD) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Diastrophic Dysplasia

Aliases & Descriptions for Diastrophic Dysplasia:

Name: Diastrophic Dysplasia 54 12 23 50 24 25 56 66 29 13 52 42 14 69
Diastrophic Dwarfism 23 50 24 25 56 66
Dtd 50 24 25 66
Dd 50 66
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 54

Characteristics:

Orphanet epidemiological data:

56
diastrophic dwarfism
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

GeneReviews:

23
diastrophic dysplasia:
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance For pathogenic variants in slc26a2, penetrance is complete...

Classifications:



External Ids:

OMIM 54 222600
Disease Ontology 12 DOID:14687
ICD10 33 Q77.5
SNOMED-CT 64 58561002
Orphanet 56 ORPHA628
UMLS via Orphanet 70 C0220726
ICD10 via Orphanet 34 Q77.5
UMLS 69 C0220726

Summaries for Diastrophic Dysplasia

NIH Rare Diseases : 50 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 cerebral palsy and denys-drash syndrome, and has symptoms including joint stiffness, macrocephaly and hypertelorism. An important gene associated with Diastrophic Dysplasia is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Degradation of the extracellular matrix and PI3K-Akt signaling pathway. Affiliated tissues include bone, skin and spinal cord, and related phenotypes are growth/size/body region and craniofacial

Disease Ontology : 12 An osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.

Genetics Home Reference : 25 Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities called contractures, which restrict movement. These joint problems often make it difficult to walk and tend to worsen with age. Additional features of diastrophic dysplasia include an inward- and upward-turning foot (clubfoot), progressive abnormal curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (a cleft palate). Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears.

UniProtKB/Swiss-Prot : 66 Diastrophic dysplasia: An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities.

Wikipedia : 71 Diastrophic dysplasia (DTD) is an autosomal recessivedysplasia which affects cartilage and bone... more...

Description from OMIM: 222600
GeneReviews: NBK1350

Related Diseases for Diastrophic Dysplasia

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

(show top 50) (show all 60)
id Related Disease Score Top Affiliating Genes
1 cerebral palsy 29.8 COL2A1 COMP
2 denys-drash syndrome 11.7
3 parkinsonism-dystonia, infantile 11.5
4 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.0
5 dentin dysplasia, type ii 10.9
6 dentin dysplasia, type i, with microdontia and misshapen teeth 10.9
7 mohr-tranebjaerg syndrome 10.9
8 dissociative disorder 10.8
9 darier disease 10.7
10 dentin dysplasia 10.7
11 dwarfism 10.3
12 coronary heart disease 4 10.2 COL2A1 SLC26A2
13 acromesomelic dysplasia 10.2 COL2A1 SLC26A2
14 combined oxidative phosphorylation deficiency 2 10.2 COL2A1 SLC26A2
15 stargardt disease 10.2 SLC26A2 SLC26A3
16 t cell immunodeficiency primary 10.2 BMP2 COL2A1
17 autosomal dominant nonsyndromic deafness 68 10.1 SLC26A2 SLC26A3
18 atelosteogenesis 10.1
19 cervicitis 10.1
20 splenic flexure cancer 10.1 BMP2 SLC26A2
21 hemolytic anemia due to glutathione synthetase deficiency 10.1 COL2A1 COMP
22 chromosomal disease 10.1 BMP2 COL2A1
23 vitelliform macular dystrophy 10.1 COMP SLC26A2
24 pityriasis rubra pilaris 10.1 COMP SLC26A2
25 epiphyseal dysplasia, multiple, with myopia and deafness 10.1 COL2A1 COMP
26 vulvovaginitis 10.1 COL2A1 SLC26A2
27 robinow syndrome, autosomal dominant 1 10.1 SLC26A3 SLC26A5
28 albright's hereditary osteodystrophy 10.1 COL2A1 COMP
29 immunodeficiency 30 10.1 COMP SLC26A2
30 smed strudwick type 10.1 COL2A1 COMP
31 echinostomiasis 10.0 SLC26A2 SLC26A4
32 physical disorder 10.0 BMP2 COL2A1
33 gingival fibromatosis 10.0 COMP SLC26A2
34 sp7-related osteogenesis imperfecta 10.0 COL2A1 COMP SLC26A2
35 neuropathy, distal hereditary motor, type iia 10.0 COL2A1 COMP SLC26A2
36 intermediate uveitis 10.0 COL2A1 COMP SLC26A2
37 slti salem syndrome 10.0 COL2A1 COMP SLC26A2
38 bone structure disease 10.0 COL2A1 COMP SLC26A2
39 artery disease 10.0
40 coronary artery disease 10.0
41 pancreas adenocarcinoma 9.9 BMP2 COL2A1
42 desbuquois dysplasia 9.9
43 achondrogenesis 9.9
44 otosclerosis 9.9
45 multiple epiphyseal dysplasia 9.9
46 pseudoachondroplasia 9.9
47 endotheliitis 9.9
48 erythrocytosis due to bisphosphoglycerate mutase deficiency 9.9 SLC26A2 SLC26A4
49 myocardial infarction 9.8
50 pseudodiastrophic dysplasia 9.8

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



Diseases related to Diastrophic Dysplasia

Symptoms & Phenotypes for Diastrophic Dysplasia

Symptoms by clinical synopsis from OMIM:

222600

Clinical features from OMIM:

222600

Human phenotypes related to Diastrophic Dysplasia:

56 32 (show top 50) (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 56 32 Frequent (79-30%) HP:0001387
2 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
3 hypertelorism 56 32 Frequent (79-30%) HP:0000316
4 abnormality of epiphysis morphology 56 32 Very frequent (99-80%) HP:0005930
5 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
6 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
7 cerebral calcification 56 32 Occasional (29-5%) HP:0002514
8 scoliosis 56 32 Very frequent (99-80%) HP:0002650
9 kyphosis 56 32 Frequent (79-30%) HP:0002808
10 hearing impairment 56 32 Occasional (29-5%) HP:0000365
11 hip dysplasia 56 32 Frequent (79-30%) HP:0001385
12 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
13 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
14 bowing of the long bones 56 32 Very frequent (99-80%) HP:0006487
15 full cheeks 56 32 Frequent (79-30%) HP:0000293
16 cleft palate 56 32 Frequent (79-30%) HP:0000175
17 micrognathia 56 32 Occasional (29-5%) HP:0000347
18 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
19 micromelia 56 32 Very frequent (99-80%) HP:0002983
20 joint hyperflexibility 56 32 Occasional (29-5%) HP:0005692
21 abnormal form of the vertebral bodies 56 32 Very frequent (99-80%) HP:0003312
22 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
23 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
24 abnormality of the metacarpal bones 56 32 Very frequent (99-80%) HP:0001163
25 visceral angiomatosis 56 32 Occasional (29-5%) HP:0100761
26 low-set, posteriorly rotated ears 56 32 Frequent (79-30%) HP:0000368
27 elbow dislocation 56 32 Occasional (29-5%) HP:0003042
28 overfolded helix 56 32 Frequent (79-30%) HP:0000396
29 abnormality of the ribs 56 32 Very frequent (99-80%) HP:0000772
30 increased bone mineral density 56 32 Very frequent (99-80%) HP:0011001
31 neonatal short-limb short stature 56 32 Very frequent (99-80%) HP:0008921
32 midface retrusion 56 32 Very frequent (99-80%) HP:0011800
33 camptodactyly of finger 56 32 Frequent (79-30%) HP:0100490
34 ulnar deviation of finger 56 32 Frequent (79-30%) HP:0009465
35 blue sclerae 56 32 Frequent (79-30%) HP:0000592
36 abnormality of the clavicle 56 32 Very frequent (99-80%) HP:0000889
37 hyperextensible skin 56 32 Occasional (29-5%) HP:0000974
38 hypoplastic cervical vertebrae 56 32 Very frequent (99-80%) HP:0008434
39 short finger 56 32 Very frequent (99-80%) HP:0009381
40 proximal placement of thumb 56 32 Very frequent (99-80%) HP:0009623
41 large earlobe 56 32 Very frequent (99-80%) HP:0009748
42 symphalangism affecting the phalanges of the hand 56 32 Very frequent (99-80%) HP:0009773
43 joint dislocation 56 Frequent (79-30%)
44 short long bone 32 HP:0003026
45 flattened epiphysis 32 HP:0003071
46 talipes equinovarus 32 HP:0001762
47 hoarse voice 32 HP:0001609
48 disproportionate short-limb short stature 32 HP:0008873
49 hip contracture 32 HP:0003273
50 kyphoscoliosis 32 HP:0002751

MGI Mouse Phenotypes related to Diastrophic Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.8 BMP2 COL2A1 COMP FN1 SLC26A2 SLC26A3
2 craniofacial MP:0005382 9.62 FN1 SLC26A2 BMP2 COL2A1
3 hearing/vestibular/ear MP:0005377 9.46 BMP2 COL2A1 SLC26A4 SLC26A5
4 limbs/digits/tail MP:0005371 9.35 BMP2 COL2A1 COMP FN1 SLC26A2
5 skeleton MP:0005390 9.1 BMP2 COL2A1 COMP FN1 SLC26A2 SLC26A4

Drugs & Therapeutics for Diastrophic Dysplasia

Search Clinical Trials , NIH Clinical Center for Diastrophic Dysplasia

Cochrane evidence based reviews: diastrophic dysplasia

Genetic Tests for Diastrophic Dysplasia

Genetic tests related to Diastrophic Dysplasia:

id Genetic test Affiliating Genes
1 Diastrophic Dysplasia 29 24 SLC26A2

Anatomical Context for Diastrophic Dysplasia

MalaCards organs/tissues related to Diastrophic Dysplasia:

39
Bone, Skin, Spinal Cord, Lung, Cortex, Adrenal Cortex

Publications for Diastrophic Dysplasia

Articles related to Diastrophic Dysplasia:

(show top 50) (show all 109)
id Title Authors Year
1
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia. ( 26206888 )
2015
2
Gait Pattern and Lower Extremity Alignment in Children With Diastrophic Dysplasia. ( 26296216 )
2015
3
Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up. ( 26692703 )
2015
4
Management of a Parturient with Diastrophic Dysplasia. ( 26125691 )
2015
5
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene. ( 26077908 )
2015
6
Diastrophic dysplasia - variant. ( 24632705 )
2014
7
Corrections of lower limb deformities in patients with diastrophic dysplasia. ( 25430710 )
2014
8
Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion. ( 24591336 )
2014
9
Not just cerebral palsy: diastrophic dysplasia presenting as spastic quadriparesis. ( 24679608 )
2014
10
Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland. ( 23389768 )
2013
11
Diastrophic dysplasia: prenatal diagnosis and review of the literature. ( 23657516 )
2013
12
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
13
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. ( 21155763 )
2011
14
Prevention of auricular deformity in children with diastrophic dysplasia. ( 21414669 )
2011
15
Diastrophic dysplasia in a seven-year-old girl. Case study. ( 20693580 )
2010
16
The 3-dimensional configuration of the typical hip and knee in diastrophic dysplasia. ( 20502243 )
2010
17
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. ( 21077202 )
2010
18
Treatment of spinal deformities in patients with diastrophic dysplasia: a long-term, population based, retrospective outcome study. ( 19752701 )
2009
19
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. ( 18925670 )
2008
20
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
21
The 3-dimensional configuration of the typical foot and ankle in diastrophic dysplasia. ( 18157048 )
2008
22
Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. ( 17602446 )
2007
23
The diagnosis of art: diastrophic dysplasia and Hephaistos. ( 17277273 )
2007
24
Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly. ( 18056413 )
2007
25
Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. ( 16954997 )
2006
26
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. ( 16642506 )
2006
27
The diagnosis of art: diastrophic dysplasia and Hephaistos. ( 22135839 )
2006
28
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. ( 15703192 )
2005
29
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. ( 15294877 )
2004
30
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. ( 15316973 )
2004
31
Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. ( 15308906 )
2004
32
Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells. ( 15513522 )
2004
33
Diastrophic dysplasia: prenatal three-dimensional ultrasound findings. ( 15027028 )
2004
34
Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases. ( 12901408 )
2003
35
Total knee arthroplasty in patients with diastrophic dysplasia. ( 14630837 )
2003
36
Total hip arthroplasty in diastrophic dysplasia. ( 12637429 )
2003
37
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. ( 14600463 )
2003
38
Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation. ( 12854932 )
2003
39
Early degeneration of the knee in diastrophic dysplasia: an MRI study. ( 14581774 )
2003
40
Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia? ( 12193993 )
2002
41
Cervical spine in patients with diastrophic dysplasia--radiographic findings in 122 patients. ( 12195300 )
2002
42
Lung function in diastrophic dysplasia. ( 11921457 )
2002
43
Magnetic resonance imaging analysis of hip joint development in patients with diastrophic dysplasia. ( 11856933 )
2002
44
SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. ( 11457925 )
2001
45
Scoliosis in patients with diastrophic dysplasia: a new classification. ( 11474356 )
2001
46
Manubrium sterni in patients with diastrophic dysplasia--radiological analysis of 50 patients. ( 11550766 )
2001
47
Thoracic and lumbar spine in diastrophic dysplasia: a clinical and magnetic resonance imaging analysis. ( 11154540 )
2001
48
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. ( 11448940 )
2001
49
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. ( 11241838 )
2001
50
Motor milestones in children with diastrophic dysplasia. ( 10912597 )
2000

Variations for Diastrophic Dysplasia

ClinVar genetic disease variations for Diastrophic Dysplasia:

6 (show all 48)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic/Likely pathogenic rs386833498 GRCh38 Chromosome 5, 149981317: 149981317
2 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Pathogenic/Likely pathogenic rs786200881 GRCh37 Chromosome 5, 149357606: 149357606
3 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh37 Chromosome 5, 149359991: 149359991
4 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh37 Chromosome 5, 149357747: 149357747
5 SLC26A2 NM_000112.3(SLC26A2): c.1273A> G (p.Asn425Asp) single nucleotide variant Pathogenic rs104893920 GRCh37 Chromosome 5, 149360429: 149360429
6 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Pathogenic/Likely pathogenic rs104893916 GRCh37 Chromosome 5, 149361189: 149361189
7 SLC26A2 NM_000112.3(SLC26A2): c.1361A> C (p.Gln454Pro) single nucleotide variant Pathogenic rs104893921 GRCh37 Chromosome 5, 149360517: 149360517
8 SLC26A2 NM_000112.3(SLC26A2): c.-26+2T> C single nucleotide variant Pathogenic rs386833492 GRCh37 Chromosome 5, 149340544: 149340544
9 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh37 Chromosome 5, 149361113: 149361113
10 SLC26A2 NM_000112.3(SLC26A2): c.1535C> A (p.Thr512Lys) single nucleotide variant Pathogenic rs121908078 GRCh37 Chromosome 5, 149360691: 149360691
11 SLC26A2 NM_000112.3(SLC26A2): c.398C> T (p.Ala133Val) single nucleotide variant Pathogenic rs267607055 GRCh37 Chromosome 5, 149357613: 149357613
12 SLC26A2 NM_000112.3(SLC26A2): c.55G> T (p.Gly19Ter) single nucleotide variant Likely pathogenic rs386833507 GRCh37 Chromosome 5, 149357270: 149357270
13 SLC26A2 NM_000112.3(SLC26A2): c.1157C> T (p.Ala386Val) single nucleotide variant Likely pathogenic rs386833493 GRCh37 Chromosome 5, 149360313: 149360313
14 SLC26A2 NM_000112.3(SLC26A2): c.1242_1245delAAAC (p.Asn415Argfs) deletion Likely pathogenic rs386833494 GRCh37 Chromosome 5, 149360398: 149360401
15 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh37 Chromosome 5, 149360550: 149360550
16 SLC26A2 NM_000112.3(SLC26A2): c.1451G> A (p.Gly484Asp) single nucleotide variant Likely pathogenic rs386833496 GRCh37 Chromosome 5, 149360607: 149360607
17 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh37 Chromosome 5, 149361132: 149361132
18 SLC26A2 NM_000112.3(SLC26A2): c.1983delA (p.Ala662Glnfs) deletion Likely pathogenic rs386833500 GRCh37 Chromosome 5, 149361139: 149361139
19 SLC26A2 NM_000112.3(SLC26A2): c.2120_2121delTT (p.Leu707Profs) deletion Likely pathogenic rs386833501 GRCh37 Chromosome 5, 149361276: 149361277
20 SLC26A2 NM_000112.3(SLC26A2): c.255delC (p.Asn87Ilefs) deletion Likely pathogenic rs386833502 GRCh37 Chromosome 5, 149357470: 149357470
21 SLC26A2 NM_000112.3(SLC26A2): c.331G> T (p.Asp111Tyr) single nucleotide variant Likely pathogenic rs386833503 GRCh37 Chromosome 5, 149357546: 149357546
22 SLC26A2 NM_000112.3(SLC26A2): c.403C> A (p.Gln135Lys) single nucleotide variant Likely pathogenic rs386833504 GRCh37 Chromosome 5, 149357618: 149357618
23 SLC26A2 NM_000112.3(SLC26A2): c.47C> G (p.Ser16Ter) single nucleotide variant Likely pathogenic rs386833505 GRCh37 Chromosome 5, 149357262: 149357262
24 SLC26A2 NM_000112.3(SLC26A2): c.496G> A (p.Gly166Arg) single nucleotide variant Likely pathogenic rs386833506 GRCh37 Chromosome 5, 149357711: 149357711
25 SLC26A2 NM_000112.3(SLC26A2): c.700-1G> C single nucleotide variant Likely pathogenic rs200963884 GRCh37 Chromosome 5, 149359855: 149359855
26 SLC26A2 NM_000112.3(SLC26A2): c.705_711delGATGGGC (p.Met236Serfs) deletion Likely pathogenic rs386833508 GRCh37 Chromosome 5, 149359861: 149359867
27 SLC26A2 NM_000112.3(SLC26A2): c.906_907delCT (p.Cys303Terfs) deletion Likely pathogenic rs386833509 GRCh37 Chromosome 5, 149360062: 149360063
28 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh37 Chromosome 5, 149360176: 149360178
29 SLC26A2 NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter) single nucleotide variant Likely pathogenic rs1057517523 GRCh37 Chromosome 5, 149357400: 149357400
30 SLC26A2 NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs) deletion Likely pathogenic rs1057517496 GRCh38 Chromosome 5, 149977840: 149977840
31 SLC26A2 NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs) deletion Likely pathogenic rs1057517462 GRCh38 Chromosome 5, 149977859: 149977859
32 SLC26A2 NM_000112.3(SLC26A2): c.239_243dupGCAGT (p.Pro82Alafs) duplication Likely pathogenic rs1057517504 GRCh38 Chromosome 5, 149977891: 149977895
33 SLC26A2 NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs) deletion Likely pathogenic rs1057517527 GRCh37 Chromosome 5, 149357700: 149357701
34 SLC26A2 NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter) single nucleotide variant Likely pathogenic rs1057517483 GRCh38 Chromosome 5, 149978193: 149978193
35 SLC26A2 NM_000112.3(SLC26A2): c.699+2T> C single nucleotide variant Pathogenic rs1057517461 GRCh38 Chromosome 5, 149978353: 149978353
36 SLC26A2 NM_000112.3(SLC26A2): c.736_739delGTCT (p.Val246Thrfs) deletion Likely pathogenic rs1057517524 GRCh38 Chromosome 5, 149980329: 149980332
37 SLC26A2 NM_000112.3(SLC26A2): c.746C> G (p.Ser249Ter) single nucleotide variant Likely pathogenic rs1057517514 GRCh38 Chromosome 5, 149980339: 149980339
38 SLC26A2 NM_000112.3(SLC26A2): c.918delC (p.Thr307Profs) deletion Likely pathogenic rs1057517526 GRCh37 Chromosome 5, 149360074: 149360074
39 SLC26A2 NM_000112.3(SLC26A2): c.922delA (p.Ser308Alafs) deletion Likely pathogenic rs1057517495 GRCh37 Chromosome 5, 149360078: 149360078
40 SLC26A2 NM_000112.3(SLC26A2): c.1060G> T (p.Glu354Ter) single nucleotide variant Likely pathogenic rs1057517532 GRCh37 Chromosome 5, 149360216: 149360216
41 SLC26A2 NM_000112.3(SLC26A2): c.1311dupT (p.Ala438Cysfs) duplication Likely pathogenic rs1057517471 GRCh37 Chromosome 5, 149360467: 149360467
42 SLC26A2 NM_000112.3(SLC26A2): c.1338delA (p.Glu447Asnfs) deletion Likely pathogenic rs1057517502 GRCh38 Chromosome 5, 149980931: 149980931
43 SLC26A2 NM_000112.3(SLC26A2): c.1537_1541dupGTTAT (p.Ile514Metfs) duplication Likely pathogenic rs1057517511 GRCh37 Chromosome 5, 149360693: 149360697
44 SLC26A2 NM_000112.3(SLC26A2): c.1649delA (p.Lys550Argfs) deletion Likely pathogenic rs1057517482 GRCh37 Chromosome 5, 149360805: 149360805
45 SLC26A2 NM_000112.3(SLC26A2): c.1806_1809delAACT (p.Thr603Serfs) deletion Likely pathogenic rs1057517530 GRCh37 Chromosome 5, 149360962: 149360965
46 SLC26A2 NM_000112.3(SLC26A2): c.1955_1958delACTG (p.Asp652Alafs) deletion Likely pathogenic rs1057517474 GRCh37 Chromosome 5, 149361111: 149361114
47 SLC26A2 NM_000112.3(SLC26A2): c.1982delC (p.Thr661Lysfs) deletion Likely pathogenic rs762137330 GRCh38 Chromosome 5, 149981575: 149981575
48 SLC26A2 NM_000112.3(SLC26A2): c.1998_1999delAC (p.Leu667Glufs) deletion Likely pathogenic rs1057517513 GRCh38 Chromosome 5, 149981591: 149981592

Expression for Diastrophic Dysplasia

Search GEO for disease gene expression data for Diastrophic Dysplasia.

Pathways for Diastrophic Dysplasia

GO Terms for Diastrophic Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.43 COL2A1 COMP FN1
2 brush border membrane GO:0031526 9.16 SLC26A3 SLC26A4
3 extracellular matrix GO:0031012 9.13 COL2A1 COMP FN1
4 apical plasma membrane GO:0016324 8.8 FN1 SLC26A3 SLC26A4

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.83 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 extracellular matrix organization GO:0030198 9.71 COL2A1 COMP FN1
3 chloride transmembrane transport GO:1902476 9.71 SLC26A2 SLC26A3 SLC26A4 SLC26A5
4 skeletal system development GO:0001501 9.69 BMP2 COL2A1 COMP
5 sensory perception of sound GO:0007605 9.67 COL2A1 SLC26A4 SLC26A5
6 regulation of membrane potential GO:0042391 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
7 ossification GO:0001503 9.65 BMP2 COL2A1 SLC26A2
8 bicarbonate transport GO:0015701 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
9 anion transmembrane transport GO:0098656 9.61 SLC26A3 SLC26A4 SLC26A5
10 cartilage development GO:0051216 9.58 BMP2 COL2A1
11 inner ear development GO:0048839 9.57 BMP2 COL2A1
12 chondrocyte differentiation GO:0002062 9.56 BMP2 COL2A1
13 regulation of intracellular pH GO:0051453 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
14 cellular response to BMP stimulus GO:0071773 9.55 BMP2 COL2A1
15 proteoglycan metabolic process GO:0006029 9.46 BMP2 COL2A1
16 sulfate transport GO:0008272 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
17 sulfate transmembrane transport GO:1902358 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
18 oxalate transport GO:0019532 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5

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

id Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 anion:anion antiporter activity GO:0015301 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
3 bicarbonate transmembrane transporter activity GO:0015106 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
4 extracellular matrix structural constituent GO:0005201 9.46 COL2A1 COMP
5 sulfate transmembrane transporter activity GO:0015116 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
6 collagen binding GO:0005518 9.43 COMP FN1
7 chloride transmembrane transporter activity GO:0015108 9.4 SLC26A3 SLC26A4
8 secondary active sulfate transmembrane transporter activity GO:0008271 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
9 oxalate transmembrane transporter activity GO:0019531 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5

Sources for Diastrophic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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