MCID: DST005
MIFTS: 52

Diastrophic Dysplasia

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

Aliases & Classifications for Diastrophic Dysplasia

MalaCards integrated aliases for Diastrophic Dysplasia:

Name: Diastrophic Dysplasia 57 12 76 24 53 25 59 75 37 29 13 55 6 44 15 73
Diastrophic Dwarfism 24 53 25 59 75
Dtd 57 53 25 75
Dd 57 53 75
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 57 6
Dysplasia, Diastrophic 40

Characteristics:

Orphanet epidemiological data:

59
diastrophic dwarfism
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to atelosteogenesis, type ii , achondrogenesis, type ib , and multiple epiphyseal dysplasia, type 4


HPO:

32
diastrophic dysplasia:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance For pathogenic variants in slc26a2, penetrance is complete...

Classifications:



Summaries for Diastrophic Dysplasia

NIH Rare Diseases : 53 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.

MalaCards based summary : Diastrophic Dysplasia, also known as diastrophic dwarfism, is related to atelosteogenesis and achondrogenesis. 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 Articular Cartilage Extracellular Matrix Pathway. Affiliated tissues include bone, skin and spinal cord, and related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : 75 Diastrophic dysplasia: An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities.

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.

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.

Wikipedia : 76 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 102)
# Related Disease Score Top Affiliating Genes
1 atelosteogenesis 30.7 COMP SLC26A2
2 achondrogenesis 30.7 COL2A1 SLC26A2
3 pseudoachondroplasia 30.2 COMP SLC26A2
4 otosclerosis 29.9 BMP2 SLC26A2
5 multiple epiphyseal dysplasia 29.9 COL2A1 COMP SLC26A2
6 spondyloepiphyseal dysplasia congenita 29.7 COL2A1 COMP SLC26A2
7 achondrogenesis, type ib 27.9 SLC26A2 SLC26A3 SLC26A4 SLC26A5
8 dentin dysplasia, type i 11.8
9 denys-drash syndrome 11.8
10 dentin dysplasia, type ii 11.8
11 parkinsonism-dystonia, infantile 11.7
12 dentin dysplasia 11.6
13 pseudodiastrophic dysplasia 11.4
14 mohr-tranebjaerg syndrome 11.2
15 darier-white disease 11.1
16 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.0
17 dissociative disorder 10.9
18 achondrogenesis, type ia 10.5 COL2A1 SLC26A2
19 congenital chloride diarrhea 10.4 SLC26A2 SLC26A3
20 dwarfism 10.4
21 tympanosclerosis 10.4 BMP2 COL2A1
22 synovial chondromatosis 10.4 BMP2 COL2A1
23 ischemic bone disease 10.3 BMP2 COL2A1
24 bone deterioration disease 10.3 BMP2 COL2A1
25 cartilage disease 10.3 COL2A1 COMP
26 achondrogenesis, type ii 10.2 COL2A1 COMP
27 bone structure disease 10.2 BMP2 COL2A1
28 hypochondrogenesis 10.2 COL2A1 COMP
29 cervicitis 10.2
30 dyshormonogenic goiter 10.2 SLC26A2 SLC26A4
31 osteonecrosis 10.2 BMP2 COL2A1
32 kniest dysplasia 10.2 COL2A1 COMP
33 osteochondrodysplasia 10.2 COL2A1 SLC26A2
34 atelosteogenesis, type ii 10.2
35 arteries, anomalies of 10.1
36 coronary artery anomaly 10.1
37 endotheliitis 10.0
38 bone inflammation disease 10.0 COL2A1 COMP
39 desbuquois dysplasia 10.0
40 microvascular complications of diabetes 3 10.0
41 microvascular complications of diabetes 4 10.0
42 microvascular complications of diabetes 6 10.0
43 microvascular complications of diabetes 7 10.0
44 myocardial infarction 9.9
45 skeletal dysplasias 9.9 COL2A1 COMP SLC26A2
46 bone development disease 9.9 COL2A1 COMP SLC26A2
47 cleft palate, isolated 9.9
48 spondyloepiphyseal dysplasia with congenital joint dislocations 9.9
49 cerebral palsy 9.9
50 scoliosis 9.9

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



Diseases related to Diastrophic Dysplasia

Symptoms & Phenotypes for Diastrophic Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate

Skeletal Spine:
hypoplastic cervical vertebrae
kyphoscoliosis
cervical kyphosis

Respiratory:
laryngotracheal stenosis

Growth Other:
short-limb dwarfism identifiable at birth

Skeletal Hands:
hitchhiker thumb
short finger with ulnar deviation

Skin Nails Hair Skin:
glabellar hemangioma

Chest:
costal cartilage calcification

Voice:
characteristic hoarse voice

Skeletal Feet:
talipes equinovarus

Neurologic Central Nervous System:
spinal cord compression
normal intelligence

Head And Neck Head:
normocephaly

Head And Neck Ears:
hearing loss
neonatal cystic lesions of the pinnae
hypertrophic auricular cartilage
ossified pinnae

Skeletal Pelvis:
hip contractures

Growth Height:
mean birth length 42cm, specific growth curve available
adult height 100-140cm

Skeletal Limbs:
short, thick tubular bone, with broad metaphyses and flattened, irregular epiphyses
subluxed patella


Clinical features from OMIM:

222600

Human phenotypes related to Diastrophic Dysplasia:

59 32 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
4 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
5 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
6 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
7 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
8 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
9 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
10 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
11 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
12 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
13 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
14 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
15 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
16 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
17 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
18 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
19 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
20 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
21 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
22 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
23 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
24 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
25 visceral angiomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100761
26 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
27 elbow dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003042
28 overfolded helix 59 32 frequent (33%) Frequent (79-30%) HP:0000396
29 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
30 increased bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0011001
31 neonatal short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008921
32 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
33 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
34 ulnar deviation of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009465
35 blue sclerae 59 32 frequent (33%) Frequent (79-30%) HP:0000592
36 abnormality of the clavicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0000889
37 hyperextensible skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000974
38 hypoplastic cervical vertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0008434
39 short finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009381
40 proximal placement of thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009623
41 large earlobe 59 32 hallmark (90%) Very frequent (99-80%) HP:0009748
42 symphalangism affecting the phalanges of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0009773
43 joint dislocation 59 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 BMP2 COL2A1 COMP SLC26A2 SLC26A3 SLC26A8
2 hearing/vestibular/ear MP:0005377 9.46 BMP2 COL2A1 SLC26A4 SLC26A5
3 limbs/digits/tail MP:0005371 9.26 BMP2 COL2A1 COMP SLC26A2
4 skeleton MP:0005390 9.02 BMP2 COL2A1 COMP 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:

# Genetic test Affiliating Genes
1 Diastrophic Dysplasia 29 SLC26A2

Anatomical Context for Diastrophic Dysplasia

MalaCards organs/tissues related to Diastrophic Dysplasia:

41
Bone, Skin, Spinal Cord, Lung, Cortex, Adrenal Cortex

Publications for Diastrophic Dysplasia

Articles related to Diastrophic Dysplasia:

(show top 50) (show all 110)
# Title Authors Year
1
Polyethylene Glycol-Poly-Lactide-co-Glycolide Block Copolymer-Based Nanoparticles as a Potential Tool for Off-Label Use of N-Acetylcysteine in the Treatment of Diastrophic Dysplasia. ( 28826881 )
2017
2
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia. ( 26206888 )
2015
3
Gait Pattern and Lower Extremity Alignment in Children With Diastrophic Dysplasia. ( 26296216 )
2015
4
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene. ( 26077908 )
2015
5
Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up. ( 26692703 )
2015
6
Management of a Parturient with Diastrophic Dysplasia. ( 26125691 )
2015
7
Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion. ( 24591336 )
2014
8
Not just cerebral palsy: diastrophic dysplasia presenting as spastic quadriparesis. ( 24679608 )
2014
9
Corrections of lower limb deformities in patients with diastrophic dysplasia. ( 25430710 )
2014
10
Diastrophic dysplasia - variant. ( 24632705 )
2014
11
Diastrophic dysplasia: prenatal diagnosis and review of the literature. ( 23657516 )
2013
12
Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland. ( 23389768 )
2013
13
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
14
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. ( 21155763 )
2011
15
Prevention of auricular deformity in children with diastrophic dysplasia. ( 21414669 )
2011
16
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. ( 21077202 )
2010
17
Diastrophic dysplasia in a seven-year-old girl. Case study. ( 20693580 )
2010
18
The 3-dimensional configuration of the typical hip and knee in diastrophic dysplasia. ( 20502243 )
2010
19
Treatment of spinal deformities in patients with diastrophic dysplasia: a long-term, population based, retrospective outcome study. ( 19752701 )
2009
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
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. ( 18925670 )
2008
22
The 3-dimensional configuration of the typical foot and ankle in diastrophic dysplasia. ( 18157048 )
2008
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
Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. ( 17602446 )
2007
26
The diagnosis of art: diastrophic dysplasia and Hephaistos. ( 22135839 )
2006
27
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. ( 16642506 )
2006
28
Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. ( 16954997 )
2006
29
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. ( 15703192 )
2005
30
Diastrophic dysplasia: prenatal three-dimensional ultrasound findings. ( 15027028 )
2004
31
Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. ( 15308906 )
2004
32
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. ( 15316973 )
2004
33
Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells. ( 15513522 )
2004
34
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. ( 15294877 )
2004
35
Total knee arthroplasty in patients with diastrophic dysplasia. ( 14630837 )
2003
36
Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation. ( 12854932 )
2003
37
Total hip arthroplasty in diastrophic dysplasia. ( 12637429 )
2003
38
Early degeneration of the knee in diastrophic dysplasia: an MRI study. ( 14581774 )
2003
39
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. ( 14600463 )
2003
40
Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases. ( 12901408 )
2003
41
Lung function in diastrophic dysplasia. ( 11921457 )
2002
42
Cervical spine in patients with diastrophic dysplasia--radiographic findings in 122 patients. ( 12195300 )
2002
43
Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia? ( 12193993 )
2002
44
Magnetic resonance imaging analysis of hip joint development in patients with diastrophic dysplasia. ( 11856933 )
2002
45
SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. ( 11457925 )
2001
46
Scoliosis in patients with diastrophic dysplasia: a new classification. ( 11474356 )
2001
47
Thoracic and lumbar spine in diastrophic dysplasia: a clinical and magnetic resonance imaging analysis. ( 11154540 )
2001
48
Manubrium sterni in patients with diastrophic dysplasia--radiological analysis of 50 patients. ( 11550766 )
2001
49
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. ( 11448940 )
2001
50
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. ( 11241838 )
2001

Variations for Diastrophic Dysplasia

ClinVar genetic disease variations for Diastrophic Dysplasia:

6
(show top 50) (show all 282)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic rs386833498 GRCh38 Chromosome 5, 149981317: 149981317
2 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic rs386833498 GRCh37 Chromosome 5, 149360880: 149360880
3 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Likely pathogenic rs786200881 GRCh37 Chromosome 5, 149357606: 149357606
4 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Likely pathogenic rs786200881 GRCh38 Chromosome 5, 149978043: 149978043
5 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh37 Chromosome 5, 149359991: 149359991
6 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh38 Chromosome 5, 149980428: 149980428
7 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh37 Chromosome 5, 149357747: 149357747
8 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh38 Chromosome 5, 149978184: 149978184
9 SLC26A2 NM_000112.3(SLC26A2): c.1273A> G (p.Asn425Asp) single nucleotide variant Pathogenic rs104893920 GRCh37 Chromosome 5, 149360429: 149360429
10 SLC26A2 NM_000112.3(SLC26A2): c.1273A> G (p.Asn425Asp) single nucleotide variant Pathogenic rs104893920 GRCh38 Chromosome 5, 149980866: 149980866
11 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Likely pathogenic rs104893916 GRCh37 Chromosome 5, 149361189: 149361189
12 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Likely pathogenic rs104893916 GRCh38 Chromosome 5, 149981626: 149981626
13 SLC26A2 NM_000112.3(SLC26A2): c.1361A> C (p.Gln454Pro) single nucleotide variant Pathogenic rs104893921 GRCh37 Chromosome 5, 149360517: 149360517
14 SLC26A2 NM_000112.3(SLC26A2): c.1361A> C (p.Gln454Pro) single nucleotide variant Pathogenic rs104893921 GRCh38 Chromosome 5, 149980954: 149980954
15 SLC26A2 NM_000112.3(SLC26A2): c.-26+2T> C single nucleotide variant Pathogenic rs386833492 GRCh37 Chromosome 5, 149340544: 149340544
16 SLC26A2 NM_000112.3(SLC26A2): c.-26+2T> C single nucleotide variant Pathogenic rs386833492 GRCh38 Chromosome 5, 149960981: 149960981
17 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh37 Chromosome 5, 149361113: 149361113
18 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh38 Chromosome 5, 149981550: 149981550
19 SLC26A2 NM_000112.3(SLC26A2): c.1535C> A (p.Thr512Lys) single nucleotide variant Pathogenic rs121908078 GRCh37 Chromosome 5, 149360691: 149360691
20 SLC26A2 NM_000112.3(SLC26A2): c.1535C> A (p.Thr512Lys) single nucleotide variant Pathogenic rs121908078 GRCh38 Chromosome 5, 149981128: 149981128
21 SLC26A2 NM_000112.3(SLC26A2): c.398C> T (p.Ala133Val) single nucleotide variant Pathogenic rs267607055 GRCh37 Chromosome 5, 149357613: 149357613
22 SLC26A2 NM_000112.3(SLC26A2): c.398C> T (p.Ala133Val) single nucleotide variant Pathogenic rs267607055 GRCh38 Chromosome 5, 149978050: 149978050
23 SLC26A2 NM_000112.3(SLC26A2): c.47C> G (p.Ser16Ter) single nucleotide variant Likely pathogenic rs386833505 GRCh38 Chromosome 5, 149977699: 149977699
24 SLC26A2 NM_000112.3(SLC26A2): c.1157C> T (p.Ala386Val) single nucleotide variant Likely pathogenic rs386833493 GRCh37 Chromosome 5, 149360313: 149360313
25 SLC26A2 NM_000112.3(SLC26A2): c.1157C> T (p.Ala386Val) single nucleotide variant Likely pathogenic rs386833493 GRCh38 Chromosome 5, 149980750: 149980750
26 SLC26A2 NM_000112.3(SLC26A2): c.1242_1245delAAAC (p.Asn415Argfs) deletion Likely pathogenic rs386833494 GRCh37 Chromosome 5, 149360398: 149360401
27 SLC26A2 NM_000112.3(SLC26A2): c.1242_1245delAAAC (p.Asn415Argfs) deletion Likely pathogenic rs386833494 GRCh38 Chromosome 5, 149980835: 149980838
28 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh37 Chromosome 5, 149360550: 149360550
29 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh38 Chromosome 5, 149980987: 149980987
30 SLC26A2 NM_000112.3(SLC26A2): c.1451G> A (p.Gly484Asp) single nucleotide variant Likely pathogenic rs386833496 GRCh37 Chromosome 5, 149360607: 149360607
31 SLC26A2 NM_000112.3(SLC26A2): c.1451G> A (p.Gly484Asp) single nucleotide variant Likely pathogenic rs386833496 GRCh38 Chromosome 5, 149981044: 149981044
32 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh37 Chromosome 5, 149361132: 149361132
33 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh38 Chromosome 5, 149981569: 149981569
34 SLC26A2 NM_000112.3(SLC26A2): c.1983delA (p.Ala662Glnfs) deletion Likely pathogenic rs386833500 GRCh37 Chromosome 5, 149361139: 149361139
35 SLC26A2 NM_000112.3(SLC26A2): c.1983delA (p.Ala662Glnfs) deletion Likely pathogenic rs386833500 GRCh38 Chromosome 5, 149981576: 149981576
36 SLC26A2 NM_000112.3(SLC26A2): c.2120_2121delTT (p.Leu707Profs) deletion Likely pathogenic rs386833501 GRCh37 Chromosome 5, 149361276: 149361277
37 SLC26A2 NM_000112.3(SLC26A2): c.2120_2121delTT (p.Leu707Profs) deletion Likely pathogenic rs386833501 GRCh38 Chromosome 5, 149981713: 149981714
38 SLC26A2 NM_000112.3(SLC26A2): c.255delC (p.Asn87Ilefs) deletion Likely pathogenic rs386833502 GRCh37 Chromosome 5, 149357470: 149357470
39 SLC26A2 NM_000112.3(SLC26A2): c.255delC (p.Asn87Ilefs) deletion Likely pathogenic rs386833502 GRCh38 Chromosome 5, 149977907: 149977907
40 SLC26A2 NM_000112.3(SLC26A2): c.331G> T (p.Asp111Tyr) single nucleotide variant Likely pathogenic rs386833503 GRCh37 Chromosome 5, 149357546: 149357546
41 SLC26A2 NM_000112.3(SLC26A2): c.331G> T (p.Asp111Tyr) single nucleotide variant Likely pathogenic rs386833503 GRCh38 Chromosome 5, 149977983: 149977983
42 SLC26A2 NM_000112.3(SLC26A2): c.403C> A (p.Gln135Lys) single nucleotide variant Likely pathogenic rs386833504 GRCh37 Chromosome 5, 149357618: 149357618
43 SLC26A2 NM_000112.3(SLC26A2): c.403C> A (p.Gln135Lys) single nucleotide variant Likely pathogenic rs386833504 GRCh38 Chromosome 5, 149978055: 149978055
44 SLC26A2 NM_000112.3(SLC26A2): c.47C> G (p.Ser16Ter) single nucleotide variant Likely pathogenic rs386833505 GRCh37 Chromosome 5, 149357262: 149357262
45 SLC26A2 NM_000112.3(SLC26A2): c.496G> A (p.Gly166Arg) single nucleotide variant Likely pathogenic rs386833506 GRCh37 Chromosome 5, 149357711: 149357711
46 SLC26A2 NM_000112.3(SLC26A2): c.496G> A (p.Gly166Arg) single nucleotide variant Likely pathogenic rs386833506 GRCh38 Chromosome 5, 149978148: 149978148
47 SLC26A2 NM_000112.3(SLC26A2): c.55G> T (p.Gly19Ter) single nucleotide variant Likely pathogenic rs386833507 GRCh37 Chromosome 5, 149357270: 149357270
48 SLC26A2 NM_000112.3(SLC26A2): c.55G> T (p.Gly19Ter) single nucleotide variant Likely pathogenic rs386833507 GRCh38 Chromosome 5, 149977707: 149977707
49 SLC26A2 NM_000112.3(SLC26A2): c.700-1G> C single nucleotide variant Likely pathogenic rs200963884 GRCh37 Chromosome 5, 149359855: 149359855
50 SLC26A2 NM_000112.3(SLC26A2): c.700-1G> C single nucleotide variant Likely pathogenic rs200963884 GRCh38 Chromosome 5, 149980292: 149980292

Expression for Diastrophic Dysplasia

Search GEO for disease gene expression data for Diastrophic Dysplasia.

Pathways for Diastrophic Dysplasia

Pathways related to Diastrophic Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.99 BMP2 COL2A1 COMP
2 10.51 COL2A1 COMP
3 9.95 BMP2 COL2A1

GO Terms for Diastrophic Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 brush border membrane GO:0031526 9.16 SLC26A3 SLC26A4
2 apical plasma membrane GO:0016324 9.13 SLC26A2 SLC26A3 SLC26A4
3 integral component of plasma membrane GO:0005887 9.02 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 SLC26A2 SLC26A3 SLC26A4 SLC26A8
2 transmembrane transport GO:0055085 9.85 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
3 regulation of membrane potential GO:0042391 9.8 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
4 chloride transmembrane transport GO:1902476 9.77 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
5 anion transmembrane transport GO:0098656 9.73 SLC26A3 SLC26A4 SLC26A5 SLC26A8
6 bicarbonate transport GO:0015701 9.72 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
7 skeletal system development GO:0001501 9.7 BMP2 COL2A1 COMP
8 sensory perception of sound GO:0007605 9.69 COL2A1 SLC26A4 SLC26A5
9 ossification GO:0001503 9.65 BMP2 COL2A1 SLC26A2
10 regulation of intracellular pH GO:0051453 9.65 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
11 chloride transport GO:0006821 9.6 SLC26A3 SLC26A8
12 cartilage development GO:0051216 9.59 BMP2 COL2A1
13 inner ear development GO:0048839 9.58 BMP2 COL2A1
14 chondrocyte differentiation GO:0002062 9.58 BMP2 COL2A1
15 cellular response to BMP stimulus GO:0071773 9.57 BMP2 COL2A1
16 anion transport GO:0006820 9.56 SLC26A3 SLC26A8
17 sulfate transport GO:0008272 9.55 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
18 sperm capacitation GO:0048240 9.54 SLC26A3 SLC26A8
19 proteoglycan metabolic process GO:0006029 9.49 BMP2 COL2A1
20 sulfate transmembrane transport GO:1902358 9.35 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
21 oxalate transport GO:0019532 9.02 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8

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

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.77 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
2 anion:anion antiporter activity GO:0015301 9.72 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
3 bicarbonate transmembrane transporter activity GO:0015106 9.65 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
4 sulfate transmembrane transporter activity GO:0015116 9.55 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
5 extracellular matrix structural constituent GO:0005201 9.43 COL2A1 COMP
6 chloride transmembrane transporter activity GO:0015108 9.4 SLC26A3 SLC26A4
7 secondary active sulfate transmembrane transporter activity GO:0008271 9.35 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
8 oxalate transmembrane transporter activity GO:0019531 9.02 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8

Sources for Diastrophic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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