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:

(showing 102, show less)
# 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
51 spondylolysis 9.9
52 cerebritis 9.9
53 collagenopathy type 2 alpha 1 9.9
54 isolated pierre robin sequence 9.9
55 spasticity 9.9
56 deafness, autosomal dominant 20 9.8 SLC26A2 SLC26A3 SLC26A8
57 brachydactyly 9.8 BMP2 COL2A1 COMP
58 gastric cancer 9.8
59 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.8
60 acute myocardial infarction 9.8
61 diabetes mellitus 9.8
62 end stage renal failure 9.8
63 thrombosis 9.8
64 lepromatous leprosy 9.8
65 heart disease 9.8
66 ischemia 9.8
67 deafness, autosomal recessive 6 9.7 SLC26A3 SLC26A5
68 aortic aneurysm, familial abdominal, 1 9.6
69 colorectal cancer 9.6
70 cardiac conduction defect 9.6
71 renal cell carcinoma, nonpapillary 9.6
72 hypertension, essential 9.6
73 systemic lupus erythematosus 9.6
74 obsessive-compulsive disorder 9.6
75 optic nerve hypoplasia, bilateral 9.6
76 prostate cancer 9.6
77 schizophrenia 9.6
78 thrombophilia due to thrombin defect 9.6
79 pulmonary disease, chronic obstructive 9.6
80 coronary heart disease 1 9.6
81 anxiety 9.6
82 pulmonary hypertension 9.6
83 dilated cardiomyopathy 9.6
84 osteoarthritis 9.6
85 rheumatic heart disease 9.6
86 lymphoma 9.6
87 tuberculoid leprosy 9.6
88 nasopharyngitis 9.6
89 nephrotic syndrome 9.6
90 gastroparesis 9.6
91 dental caries 9.6
92 dermatitis 9.6
93 acute pancreatitis 9.6
94 iga glomerulonephritis 9.6
95 aortic aneurysm 9.6
96 lynch syndrome 9.6
97 dystonia 9.6
98 lupus erythematosus 9.6
99 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.3 SLC26A2 SLC26A4 SLC26A5
100 osteoporosis 9.2 BMP2 COL2A1 SLC26A2
101 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.2 SLC26A4 SLC26A5
102 pendred syndrome 8.1 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8

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 (showing 59, show less)
# 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
51 irregular epiphyses 32 HP:0010582
52 spinal cord compression 32 HP:0002176
53 laryngotracheal stenosis 32 HP:0004894
54 cervical kyphosis 32 HP:0002947
55 hitchhiker thumb 32 HP:0001234
56 glabellar hemangioma 32 HP:0001076
57 hypertrophic auricular cartilage 32 HP:0008608
58 costal cartilage calcification 32 HP:0006646
59 cystic lesions of the pinnae 32 HP:0010723

MGI Mouse Phenotypes related to Diastrophic Dysplasia:

46 (showing 4, show less)
# 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:

(showing 110, show less)
# 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
51
Motor milestones in children with diastrophic dysplasia. ( 10912597 )
2000
52
Diastrophic dysplasia with severe primary kyphosis and 'monkey wrench' appearance of the femora. ( 11103546 )
2000
53
Cervical spine in diastrophic dysplasia: an MRI analysis. ( 10641688 )
2000
54
Double-layered manubrium sterni in young children with diastrophic dysplasia. ( 10876826 )
2000
55
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. ( 10466420 )
1999
56
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). ( 10482955 )
1999
57
Health-related quality of life in patients with diastrophic dysplasia. ( 10847669 )
1999
58
Cervical kyphosis in diastrophic dysplasia. ( 10528373 )
1999
59
The spine in diastrophic dysplasia. The surgical arthrodesis of thoracic and lumbar deformities in 21 patients. ( 10586456 )
1999
60
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. ( 9575183 )
1998
61
Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity. ( 9602486 )
1998
62
Development of the hip in diastrophic dysplasia. ( 9546468 )
1998
63
Diastrophic dysplasia diagnosed in a case published 100 years ago. ( 9600747 )
1998
64
Correlation between speech outcome and cephalometric dimensions in patients with diastrophic dysplasia. ( 9594377 )
1998
65
Growth in diastrophic dysplasia. ( 9108864 )
1997
66
Cloning and characterization of the 5'-flanking region of the mouse diastrophic dysplasia sulfate transporter gene. ( 9325159 )
1997
67
Cloning of mouse diastrophic dysplasia sulfate transporter gene induced during osteoblast differentiation by bone morphogenetic protein-2. ( 9370300 )
1997
68
Transverse facial morphology in patients with diastrophic dysplasia. ( 9493075 )
1997
69
Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia. ( 9415482 )
1997
70
Ultrasonography of the patellofemoral joint in diastrophic dysplasia. ( 9364394 )
1997
71
Craniofacial structure in diastrophic dysplasia--a cephalometric study. ( 9332652 )
1997
72
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter. ( 8702490 )
1996
73
Phenotypic features of dentition in diastrophic dysplasia. ( 8872707 )
1996
74
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. ( 8571951 )
1996
75
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. ( 8723100 )
1996
76
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. ( 8931695 )
1996
77
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans. ( 8702127 )
1996
78
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. ( 8528239 )
1996
79
Diastrophic dysplasia: extreme variability within a sibship. ( 8723083 )
1996
80
Abnormal collagen cross-linking in the cartilage of a diastrophic dysplasia patient. ( 7633791 )
1995
81
Severe mid-cervical kyphosis with cord compression in Larsen's syndrome and diastrophic dysplasia: unrelated syndromes with similar radiologic findings and neurosurgical implications. ( 7596660 )
1995
82
Histopathology of fetal diastrophic dysplasia. ( 7778595 )
1995
83
Abnormality of type IX collagen in a patient with diastrophic dysplasia. ( 8160734 )
1994
84
Diastrophic dysplasia. ( 7896341 )
1994
85
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. ( 7923357 )
1994
86
Diastrophic Dysplasia ( 20301524 )
1993
87
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. ( 8487268 )
1993
88
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. ( 1345170 )
1992
89
Foot deformities in diastrophic dysplasia. An analysis of 102 patients. ( 1587898 )
1992
90
Light and electron microscopic abnormalities in diastrophic dysplasia growth cartilage. ( 1422977 )
1992
91
Diastrophic dysplasia: a case report. ( 1340866 )
1992
92
Cementless hip arthroplasty in diastrophic dysplasia. ( 1431918 )
1992
93
Atlanto-axial instability in diastrophic dysplasia. A case report. ( 2013604 )
1991
94
The spine in diastrophic dysplasia. ( 1948373 )
1991
95
A linkage map spanning the locus for diastrophic dysplasia (DTD). ( 1783404 )
1991
96
Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. ( 1978318 )
1990
97
Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia. ( 2732992 )
1989
98
Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound. ( 3065771 )
1988
99
Metacarpophalangeal pattern profile analysis in diastrophic dysplasia. ( 3425635 )
1987
100
Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks. ( 3300333 )
1987
101
Cleft palate in diastrophic dysplasia. Morphology, results of treatment and complications. ( 3775293 )
1986
102
Diastrophic dysplasia: case report. ( 2938081 )
1985
103
Lethal and non-lethal diastrophic dysplasia. A study of 14 Swedish cases. ( 4064368 )
1985
104
A pair of siblings with diastrophic dysplasia and E trisomy mosaicism. ( 6479995 )
1984
105
Early prenatal detection of diastrophic dysplasia. ( 6622405 )
1983
106
Abnormal pattern of segment long spacing (SLS) cartilage collagen in diastrophic dysplasia. ( 7105649 )
1982
107
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. ( 6298815 )
1982
108
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. ( 6803579 )
1982
109
Diastrophic dysplasia: the death of a variant. ( 6787663 )
1981
110
The phenotypic variability of diastrophic dysplasia. ( 702237 )
1978

Variations for Diastrophic Dysplasia

ClinVar genetic disease variations for Diastrophic Dysplasia:

6
(showing 282, show less)
# 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
51 SLC26A2 NM_000112.3(SLC26A2): c.705_711delGATGGGC (p.Met236Serfs) deletion Likely pathogenic rs386833508 GRCh37 Chromosome 5, 149359861: 149359867
52 SLC26A2 NM_000112.3(SLC26A2): c.705_711delGATGGGC (p.Met236Serfs) deletion Likely pathogenic rs386833508 GRCh38 Chromosome 5, 149980298: 149980304
53 SLC26A2 NM_000112.3(SLC26A2): c.906_907delCT (p.Cys303Terfs) deletion Likely pathogenic rs386833509 GRCh37 Chromosome 5, 149360062: 149360063
54 SLC26A2 NM_000112.3(SLC26A2): c.906_907delCT (p.Cys303Terfs) deletion Likely pathogenic rs386833509 GRCh38 Chromosome 5, 149980499: 149980500
55 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh37 Chromosome 5, 149360176: 149360178
56 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh38 Chromosome 5, 149980613: 149980615
57 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh37 Chromosome 5, 149360877: 149360877
58 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh38 Chromosome 5, 149981314: 149981314
59 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh37 Chromosome 5, 149360143: 149360143
60 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh38 Chromosome 5, 149980580: 149980580
61 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh38 Chromosome 5, 149981813: 149981813
62 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh37 Chromosome 5, 149361376: 149361376
63 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
64 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
65 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh37 Chromosome 5, 149357444: 149357444
66 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh38 Chromosome 5, 149977881: 149977881
67 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh37 Chromosome 5, 149360668: 149360668
68 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh38 Chromosome 5, 149981105: 149981105
69 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh38 Chromosome 5, 149960965: 149960965
70 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh37 Chromosome 5, 149340528: 149340528
71 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh38 Chromosome 5, 149980845: 149980845
72 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh37 Chromosome 5, 149360408: 149360408
73 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh38 Chromosome 5, 149980995: 149980995
74 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh37 Chromosome 5, 149360558: 149360558
75 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh37 Chromosome 5, 149361301: 149361301
76 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh38 Chromosome 5, 149981738: 149981738
77 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh37 Chromosome 5, 149361592: 149361592
78 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh38 Chromosome 5, 149982029: 149982029
79 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh37 Chromosome 5, 149361706: 149361706
80 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh38 Chromosome 5, 149982143: 149982143
81 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh37 Chromosome 5, 149361770: 149361770
82 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh38 Chromosome 5, 149982207: 149982207
83 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh37 Chromosome 5, 149361966: 149361966
84 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh38 Chromosome 5, 149982403: 149982403
85 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh37 Chromosome 5, 149362314: 149362314
86 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh38 Chromosome 5, 149982751: 149982751
87 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh37 Chromosome 5, 149362919: 149362919
88 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh38 Chromosome 5, 149983356: 149983356
89 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh37 Chromosome 5, 149363552: 149363552
90 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh38 Chromosome 5, 149983989: 149983989
91 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh37 Chromosome 5, 149363665: 149363665
92 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh38 Chromosome 5, 149984102: 149984102
93 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh37 Chromosome 5, 149363846: 149363846
94 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh38 Chromosome 5, 149984283: 149984283
95 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh37 Chromosome 5, 149363979: 149363979
96 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh38 Chromosome 5, 149984416: 149984416
97 SLC26A2 NM_000112.3(SLC26A2): c.*2617C> T single nucleotide variant Uncertain significance rs188922059 GRCh37 Chromosome 5, 149363993: 149363993
98 SLC26A2 NM_000112.3(SLC26A2): c.*2617C> T single nucleotide variant Uncertain significance rs188922059 GRCh38 Chromosome 5, 149984430: 149984430
99 SLC26A2 NM_000112.3(SLC26A2): c.*3261A> C single nucleotide variant Uncertain significance rs886060245 GRCh38 Chromosome 5, 149985074: 149985074
100 SLC26A2 NM_000112.3(SLC26A2): c.*3261A> C single nucleotide variant Uncertain significance rs886060245 GRCh37 Chromosome 5, 149364637: 149364637
101 SLC26A2 NM_000112.3(SLC26A2): c.*3307A> G single nucleotide variant Uncertain significance rs557854258 GRCh38 Chromosome 5, 149985120: 149985120
102 SLC26A2 NM_000112.3(SLC26A2): c.*3307A> G single nucleotide variant Uncertain significance rs557854258 GRCh37 Chromosome 5, 149364683: 149364683
103 SLC26A2 NM_000112.3(SLC26A2): c.*3466C> G single nucleotide variant Likely benign rs6888879 GRCh37 Chromosome 5, 149364842: 149364842
104 SLC26A2 NM_000112.3(SLC26A2): c.*3466C> G single nucleotide variant Likely benign rs6888879 GRCh38 Chromosome 5, 149985279: 149985279
105 SLC26A2 NM_000112.3(SLC26A2): c.*4799G> A single nucleotide variant Uncertain significance rs72832119 GRCh37 Chromosome 5, 149366175: 149366175
106 SLC26A2 NM_000112.3(SLC26A2): c.*4799G> A single nucleotide variant Uncertain significance rs72832119 GRCh38 Chromosome 5, 149986612: 149986612
107 SLC26A2 NM_000112.3(SLC26A2): c.*4930C> T single nucleotide variant Uncertain significance rs79521091 GRCh37 Chromosome 5, 149366306: 149366306
108 SLC26A2 NM_000112.3(SLC26A2): c.*4930C> T single nucleotide variant Uncertain significance rs79521091 GRCh38 Chromosome 5, 149986743: 149986743
109 SLC26A2 NM_000112.3(SLC26A2): c.-206T> A single nucleotide variant Uncertain significance rs560467935 GRCh38 Chromosome 5, 149960799: 149960799
110 SLC26A2 NM_000112.3(SLC26A2): c.-206T> A single nucleotide variant Uncertain significance rs560467935 GRCh37 Chromosome 5, 149340362: 149340362
111 SLC26A2 NM_000112.3(SLC26A2): c.*53C> G single nucleotide variant Uncertain significance rs886060226 GRCh37 Chromosome 5, 149361429: 149361429
112 SLC26A2 NM_000112.3(SLC26A2): c.*53C> G single nucleotide variant Uncertain significance rs886060226 GRCh38 Chromosome 5, 149981866: 149981866
113 SLC26A2 NM_000112.3(SLC26A2): c.*264C> G single nucleotide variant Uncertain significance rs886060228 GRCh37 Chromosome 5, 149361640: 149361640
114 SLC26A2 NM_000112.3(SLC26A2): c.*264C> G single nucleotide variant Uncertain significance rs886060228 GRCh38 Chromosome 5, 149982077: 149982077
115 SLC26A2 NM_000112.3(SLC26A2): c.*300C> T single nucleotide variant Uncertain significance rs570796999 GRCh37 Chromosome 5, 149361676: 149361676
116 SLC26A2 NM_000112.3(SLC26A2): c.*300C> T single nucleotide variant Uncertain significance rs570796999 GRCh38 Chromosome 5, 149982113: 149982113
117 SLC26A2 NM_000112.3(SLC26A2): c.*453G> A single nucleotide variant Uncertain significance rs886060229 GRCh37 Chromosome 5, 149361829: 149361829
118 SLC26A2 NM_000112.3(SLC26A2): c.*453G> A single nucleotide variant Uncertain significance rs886060229 GRCh38 Chromosome 5, 149982266: 149982266
119 SLC26A2 NM_000112.3(SLC26A2): c.*600G> T single nucleotide variant Likely benign rs143723255 GRCh37 Chromosome 5, 149361976: 149361976
120 SLC26A2 NM_000112.3(SLC26A2): c.*600G> T single nucleotide variant Likely benign rs143723255 GRCh38 Chromosome 5, 149982413: 149982413
121 SLC26A2 NM_000112.3(SLC26A2): c.*1221dupA duplication Uncertain significance rs886060233 GRCh37 Chromosome 5, 149362597: 149362597
122 SLC26A2 NM_000112.3(SLC26A2): c.*1221dupA duplication Uncertain significance rs886060233 GRCh38 Chromosome 5, 149983034: 149983034
123 SLC26A2 NM_000112.3(SLC26A2): c.*1631C> T single nucleotide variant Likely benign rs7717795 GRCh37 Chromosome 5, 149363007: 149363007
124 SLC26A2 NM_000112.3(SLC26A2): c.*1631C> T single nucleotide variant Likely benign rs7717795 GRCh38 Chromosome 5, 149983444: 149983444
125 SLC26A2 NM_000112.3(SLC26A2): c.*2357T> C single nucleotide variant Uncertain significance rs886060240 GRCh37 Chromosome 5, 149363733: 149363733
126 SLC26A2 NM_000112.3(SLC26A2): c.*2357T> C single nucleotide variant Uncertain significance rs886060240 GRCh38 Chromosome 5, 149984170: 149984170
127 SLC26A2 NM_000112.3(SLC26A2): c.*2443A> G single nucleotide variant Uncertain significance rs886060241 GRCh37 Chromosome 5, 149363819: 149363819
128 SLC26A2 NM_000112.3(SLC26A2): c.*2443A> G single nucleotide variant Uncertain significance rs886060241 GRCh38 Chromosome 5, 149984256: 149984256
129 SLC26A2 NM_000112.3(SLC26A2): c.*3165G> A single nucleotide variant Uncertain significance rs185603342 GRCh38 Chromosome 5, 149984978: 149984978
130 SLC26A2 NM_000112.3(SLC26A2): c.*3165G> A single nucleotide variant Uncertain significance rs185603342 GRCh37 Chromosome 5, 149364541: 149364541
131 SLC26A2 NM_000112.3(SLC26A2): c.*3693_*3695delCAG deletion Uncertain significance rs886060246 GRCh37 Chromosome 5, 149365069: 149365071
132 SLC26A2 NM_000112.3(SLC26A2): c.*3693_*3695delCAG deletion Uncertain significance rs886060246 GRCh38 Chromosome 5, 149985506: 149985508
133 SLC26A2 NM_000112.3(SLC26A2): c.*4064dupA duplication Uncertain significance rs886060247 GRCh37 Chromosome 5, 149365440: 149365440
134 SLC26A2 NM_000112.3(SLC26A2): c.*4064dupA duplication Uncertain significance rs886060247 GRCh38 Chromosome 5, 149985877: 149985877
135 SLC26A2 NM_000112.3(SLC26A2): c.*4224A> G single nucleotide variant Uncertain significance rs777116235 GRCh37 Chromosome 5, 149365600: 149365600
136 SLC26A2 NM_000112.3(SLC26A2): c.*4224A> G single nucleotide variant Uncertain significance rs777116235 GRCh38 Chromosome 5, 149986037: 149986037
137 SLC26A2 NM_000112.3(SLC26A2): c.*4333G> A single nucleotide variant Uncertain significance rs886060248 GRCh37 Chromosome 5, 149365709: 149365709
138 SLC26A2 NM_000112.3(SLC26A2): c.*4333G> A single nucleotide variant Uncertain significance rs886060248 GRCh38 Chromosome 5, 149986146: 149986146
139 SLC26A2 NM_000112.3(SLC26A2): c.*4469dupT duplication Uncertain significance rs886060249 GRCh37 Chromosome 5, 149365845: 149365845
140 SLC26A2 NM_000112.3(SLC26A2): c.*4469dupT duplication Uncertain significance rs886060249 GRCh38 Chromosome 5, 149986282: 149986282
141 SLC26A2 NM_000112.3(SLC26A2): c.*4586C> T single nucleotide variant Uncertain significance rs886060250 GRCh37 Chromosome 5, 149365962: 149365962
142 SLC26A2 NM_000112.3(SLC26A2): c.*4586C> T single nucleotide variant Uncertain significance rs886060250 GRCh38 Chromosome 5, 149986399: 149986399
143 SLC26A2 NM_000112.3(SLC26A2): c.*4612G> A single nucleotide variant Uncertain significance rs886060251 GRCh37 Chromosome 5, 149365988: 149365988
144 SLC26A2 NM_000112.3(SLC26A2): c.*4612G> A single nucleotide variant Uncertain significance rs886060251 GRCh38 Chromosome 5, 149986425: 149986425
145 SLC26A2 NM_000112.3(SLC26A2): c.*5387T> G single nucleotide variant Uncertain significance rs567348765 GRCh37 Chromosome 5, 149366763: 149366763
146 SLC26A2 NM_000112.3(SLC26A2): c.*5387T> G single nucleotide variant Uncertain significance rs567348765 GRCh38 Chromosome 5, 149987200: 149987200
147 SLC26A2 NM_000112.3(SLC26A2): c.-256G> A single nucleotide variant Uncertain significance rs886060219 GRCh38 Chromosome 5, 149960749: 149960749
148 SLC26A2 NM_000112.3(SLC26A2): c.-256G> A single nucleotide variant Uncertain significance rs886060219 GRCh37 Chromosome 5, 149340312: 149340312
149 SLC26A2 NM_000112.3(SLC26A2): c.-238G> A single nucleotide variant Uncertain significance rs11953129 GRCh38 Chromosome 5, 149960767: 149960767
150 SLC26A2 NM_000112.3(SLC26A2): c.-238G> A single nucleotide variant Uncertain significance rs11953129 GRCh37 Chromosome 5, 149340330: 149340330
151 SLC26A2 NM_000112.3(SLC26A2): c.-223A> G single nucleotide variant Uncertain significance rs886060220 GRCh38 Chromosome 5, 149960782: 149960782
152 SLC26A2 NM_000112.3(SLC26A2): c.-223A> G single nucleotide variant Uncertain significance rs886060220 GRCh37 Chromosome 5, 149340345: 149340345
153 SLC26A2 NM_000112.3(SLC26A2): c.-163T> C single nucleotide variant Uncertain significance rs886060221 GRCh38 Chromosome 5, 149960842: 149960842
154 SLC26A2 NM_000112.3(SLC26A2): c.-163T> C single nucleotide variant Uncertain significance rs886060221 GRCh37 Chromosome 5, 149340405: 149340405
155 SLC26A2 NM_000112.3(SLC26A2): c.655A> G (p.Ile219Val) single nucleotide variant Benign/Likely benign rs35919114 GRCh38 Chromosome 5, 149978307: 149978307
156 SLC26A2 NM_000112.3(SLC26A2): c.655A> G (p.Ile219Val) single nucleotide variant Benign/Likely benign rs35919114 GRCh37 Chromosome 5, 149357870: 149357870
157 SLC26A2 NM_000112.3(SLC26A2): c.699+13G> T single nucleotide variant Uncertain significance rs886060222 GRCh38 Chromosome 5, 149978364: 149978364
158 SLC26A2 NM_000112.3(SLC26A2): c.699+13G> T single nucleotide variant Uncertain significance rs886060222 GRCh37 Chromosome 5, 149357927: 149357927
159 SLC26A2 NM_000112.3(SLC26A2): c.793C> T (p.Leu265Phe) single nucleotide variant Uncertain significance rs886060223 GRCh38 Chromosome 5, 149980386: 149980386
160 SLC26A2 NM_000112.3(SLC26A2): c.793C> T (p.Leu265Phe) single nucleotide variant Uncertain significance rs886060223 GRCh37 Chromosome 5, 149359949: 149359949
161 SLC26A2 NM_000112.3(SLC26A2): c.993A> C (p.Ala331=) single nucleotide variant Uncertain significance rs772104667 GRCh38 Chromosome 5, 149980586: 149980586
162 SLC26A2 NM_000112.3(SLC26A2): c.993A> C (p.Ala331=) single nucleotide variant Uncertain significance rs772104667 GRCh37 Chromosome 5, 149360149: 149360149
163 SLC26A2 NM_000112.3(SLC26A2): c.1744C> T (p.Arg582Cys) single nucleotide variant Uncertain significance rs142542254 GRCh38 Chromosome 5, 149981337: 149981337
164 SLC26A2 NM_000112.3(SLC26A2): c.1744C> T (p.Arg582Cys) single nucleotide variant Uncertain significance rs142542254 GRCh37 Chromosome 5, 149360900: 149360900
165 SLC26A2 NM_000112.3(SLC26A2): c.1761C> G (p.Leu587=) single nucleotide variant Uncertain significance rs745590895 GRCh38 Chromosome 5, 149981354: 149981354
166 SLC26A2 NM_000112.3(SLC26A2): c.1761C> G (p.Leu587=) single nucleotide variant Uncertain significance rs745590895 GRCh37 Chromosome 5, 149360917: 149360917
167 SLC26A2 NM_000112.3(SLC26A2): c.2129A> G (p.Tyr710Cys) single nucleotide variant Uncertain significance rs374692915 GRCh37 Chromosome 5, 149361285: 149361285
168 SLC26A2 NM_000112.3(SLC26A2): c.2129A> G (p.Tyr710Cys) single nucleotide variant Uncertain significance rs374692915 GRCh38 Chromosome 5, 149981722: 149981722
169 SLC26A2 NM_000112.3(SLC26A2): c.*974C> G single nucleotide variant Uncertain significance rs886060231 GRCh37 Chromosome 5, 149362350: 149362350
170 SLC26A2 NM_000112.3(SLC26A2): c.*974C> G single nucleotide variant Uncertain significance rs886060231 GRCh38 Chromosome 5, 149982787: 149982787
171 SLC26A2 NM_000112.3(SLC26A2): c.*1024T> G single nucleotide variant Benign rs8073 GRCh37 Chromosome 5, 149362400: 149362400
172 SLC26A2 NM_000112.3(SLC26A2): c.*1024T> G single nucleotide variant Benign rs8073 GRCh38 Chromosome 5, 149982837: 149982837
173 SLC26A2 NM_000112.3(SLC26A2): c.*1221delA deletion Uncertain significance rs886060234 GRCh37 Chromosome 5, 149362597: 149362597
174 SLC26A2 NM_000112.3(SLC26A2): c.*1221delA deletion Uncertain significance rs886060234 GRCh38 Chromosome 5, 149983034: 149983034
175 SLC26A2 NM_000112.3(SLC26A2): c.*1427G> A single nucleotide variant Uncertain significance rs760907801 GRCh37 Chromosome 5, 149362803: 149362803
176 SLC26A2 NM_000112.3(SLC26A2): c.*1427G> A single nucleotide variant Uncertain significance rs760907801 GRCh38 Chromosome 5, 149983240: 149983240
177 SLC26A2 NM_000112.3(SLC26A2): c.*1552G> C single nucleotide variant Uncertain significance rs143723917 GRCh37 Chromosome 5, 149362928: 149362928
178 SLC26A2 NM_000112.3(SLC26A2): c.*1552G> C single nucleotide variant Uncertain significance rs143723917 GRCh38 Chromosome 5, 149983365: 149983365
179 SLC26A2 NM_000112.3(SLC26A2): c.*2003A> G single nucleotide variant Uncertain significance rs886060237 GRCh37 Chromosome 5, 149363379: 149363379
180 SLC26A2 NM_000112.3(SLC26A2): c.*2003A> G single nucleotide variant Uncertain significance rs886060237 GRCh38 Chromosome 5, 149983816: 149983816
181 SLC26A2 NM_000112.3(SLC26A2): c.*2612C> T single nucleotide variant Likely benign rs28451300 GRCh37 Chromosome 5, 149363988: 149363988
182 SLC26A2 NM_000112.3(SLC26A2): c.*2612C> T single nucleotide variant Likely benign rs28451300 GRCh38 Chromosome 5, 149984425: 149984425
183 SLC26A2 NM_000112.3(SLC26A2): c.*2772C> T single nucleotide variant Uncertain significance rs886060242 GRCh37 Chromosome 5, 149364148: 149364148
184 SLC26A2 NM_000112.3(SLC26A2): c.*2772C> T single nucleotide variant Uncertain significance rs886060242 GRCh38 Chromosome 5, 149984585: 149984585
185 SLC26A2 NM_000112.3(SLC26A2): c.*2780G> A single nucleotide variant Uncertain significance rs9324635 GRCh37 Chromosome 5, 149364156: 149364156
186 SLC26A2 NM_000112.3(SLC26A2): c.*2780G> A single nucleotide variant Uncertain significance rs9324635 GRCh38 Chromosome 5, 149984593: 149984593
187 SLC26A2 NM_000112.3(SLC26A2): c.*2790G> A single nucleotide variant Uncertain significance rs886060243 GRCh37 Chromosome 5, 149364166: 149364166
188 SLC26A2 NM_000112.3(SLC26A2): c.*2790G> A single nucleotide variant Uncertain significance rs886060243 GRCh38 Chromosome 5, 149984603: 149984603
189 SLC26A2 NM_000112.3(SLC26A2): c.*3044G> A single nucleotide variant Uncertain significance rs886060244 GRCh37 Chromosome 5, 149364420: 149364420
190 SLC26A2 NM_000112.3(SLC26A2): c.*3044G> A single nucleotide variant Uncertain significance rs886060244 GRCh38 Chromosome 5, 149984857: 149984857
191 SLC26A2 NM_000112.3(SLC26A2): c.*3225T> C single nucleotide variant Uncertain significance rs144502932 GRCh38 Chromosome 5, 149985038: 149985038
192 SLC26A2 NM_000112.3(SLC26A2): c.*3225T> C single nucleotide variant Uncertain significance rs144502932 GRCh37 Chromosome 5, 149364601: 149364601
193 SLC26A2 NM_000112.3(SLC26A2): c.*3435C> G single nucleotide variant Uncertain significance rs189916904 GRCh37 Chromosome 5, 149364811: 149364811
194 SLC26A2 NM_000112.3(SLC26A2): c.*3435C> G single nucleotide variant Uncertain significance rs189916904 GRCh38 Chromosome 5, 149985248: 149985248
195 SLC26A2 NM_000112.3(SLC26A2): c.*4391G> T single nucleotide variant Uncertain significance rs150508217 GRCh37 Chromosome 5, 149365767: 149365767
196 SLC26A2 NM_000112.3(SLC26A2): c.*4391G> T single nucleotide variant Uncertain significance rs150508217 GRCh38 Chromosome 5, 149986204: 149986204
197 SLC26A2 NM_000112.3(SLC26A2): c.*4782A> G single nucleotide variant Uncertain significance rs886060252 GRCh37 Chromosome 5, 149366158: 149366158
198 SLC26A2 NM_000112.3(SLC26A2): c.*4782A> G single nucleotide variant Uncertain significance rs886060252 GRCh38 Chromosome 5, 149986595: 149986595
199 SLC26A2 NM_000112.3(SLC26A2): c.*4982A> G single nucleotide variant Likely benign rs74589369 GRCh37 Chromosome 5, 149366358: 149366358
200 SLC26A2 NM_000112.3(SLC26A2): c.*4982A> G single nucleotide variant Likely benign rs74589369 GRCh38 Chromosome 5, 149986795: 149986795
201 SLC26A2 NM_000112.3(SLC26A2): c.-235T> C single nucleotide variant Uncertain significance rs760297706 GRCh38 Chromosome 5, 149960770: 149960770
202 SLC26A2 NM_000112.3(SLC26A2): c.-235T> C single nucleotide variant Uncertain significance rs760297706 GRCh37 Chromosome 5, 149340333: 149340333
203 SLC26A2 NM_000112.3(SLC26A2): c.-183G> C single nucleotide variant Uncertain significance rs540241474 GRCh37 Chromosome 5, 149340385: 149340385
204 SLC26A2 NM_000112.3(SLC26A2): c.-183G> C single nucleotide variant Uncertain significance rs540241474 GRCh38 Chromosome 5, 149960822: 149960822
205 SLC26A2 NM_000112.3(SLC26A2): c.-162T> C single nucleotide variant Uncertain significance rs564087874 GRCh38 Chromosome 5, 149960843: 149960843
206 SLC26A2 NM_000112.3(SLC26A2): c.-162T> C single nucleotide variant Uncertain significance rs564087874 GRCh37 Chromosome 5, 149340406: 149340406
207 SLC26A2 NM_000112.3(SLC26A2): c.1046T> A (p.Phe349Tyr) single nucleotide variant Uncertain significance rs114212275 GRCh38 Chromosome 5, 149980639: 149980639
208 SLC26A2 NM_000112.3(SLC26A2): c.1046T> A (p.Phe349Tyr) single nucleotide variant Uncertain significance rs114212275 GRCh37 Chromosome 5, 149360202: 149360202
209 SLC26A2 NM_000112.3(SLC26A2): c.2021A> G (p.Tyr674Cys) single nucleotide variant Uncertain significance rs772655429 GRCh38 Chromosome 5, 149981614: 149981614
210 SLC26A2 NM_000112.3(SLC26A2): c.2021A> G (p.Tyr674Cys) single nucleotide variant Uncertain significance rs772655429 GRCh37 Chromosome 5, 149361177: 149361177
211 SLC26A2 NM_000112.3(SLC26A2): c.*205G> A single nucleotide variant Uncertain significance rs115383424 GRCh37 Chromosome 5, 149361581: 149361581
212 SLC26A2 NM_000112.3(SLC26A2): c.*205G> A single nucleotide variant Uncertain significance rs115383424 GRCh38 Chromosome 5, 149982018: 149982018
213 SLC26A2 NM_000112.3(SLC26A2): c.*896A> G single nucleotide variant Uncertain significance rs886060230 GRCh37 Chromosome 5, 149362272: 149362272
214 SLC26A2 NM_000112.3(SLC26A2): c.*896A> G single nucleotide variant Uncertain significance rs886060230 GRCh38 Chromosome 5, 149982709: 149982709
215 SLC26A2 NM_000112.3(SLC26A2): c.*1146G> T single nucleotide variant Uncertain significance rs886060232 GRCh37 Chromosome 5, 149362522: 149362522
216 SLC26A2 NM_000112.3(SLC26A2): c.*1146G> T single nucleotide variant Uncertain significance rs886060232 GRCh38 Chromosome 5, 149982959: 149982959
217 SLC26A2 NM_000112.3(SLC26A2): c.*1892dupT duplication Likely benign rs886060236 GRCh37 Chromosome 5, 149363268: 149363268
218 SLC26A2 NM_000112.3(SLC26A2): c.*1892dupT duplication Likely benign rs886060236 GRCh38 Chromosome 5, 149983705: 149983705
219 SLC26A2 NM_000112.3(SLC26A2): c.*1970G> T single nucleotide variant Uncertain significance rs147208348 GRCh37 Chromosome 5, 149363346: 149363346
220 SLC26A2 NM_000112.3(SLC26A2): c.*1970G> T single nucleotide variant Uncertain significance rs147208348 GRCh38 Chromosome 5, 149983783: 149983783
221 SLC26A2 NM_000112.3(SLC26A2): c.*2226C> T single nucleotide variant Likely benign rs7722454 GRCh37 Chromosome 5, 149363602: 149363602
222 SLC26A2 NM_000112.3(SLC26A2): c.*2226C> T single nucleotide variant Likely benign rs7722454 GRCh38 Chromosome 5, 149984039: 149984039
223 SLC26A2 NM_000112.3(SLC26A2): c.*2330C> T single nucleotide variant Uncertain significance rs886060239 GRCh37 Chromosome 5, 149363706: 149363706
224 SLC26A2 NM_000112.3(SLC26A2): c.*2330C> T single nucleotide variant Uncertain significance rs886060239 GRCh38 Chromosome 5, 149984143: 149984143
225 SLC26A2 NM_000112.3(SLC26A2): c.*3404C> T single nucleotide variant Benign rs30833 GRCh38 Chromosome 5, 149985217: 149985217
226 SLC26A2 NM_000112.3(SLC26A2): c.*3404C> T single nucleotide variant Benign rs30833 GRCh37 Chromosome 5, 149364780: 149364780
227 SLC26A2 NM_000112.3(SLC26A2): c.*3580A> G single nucleotide variant Uncertain significance rs148424806 GRCh37 Chromosome 5, 149364956: 149364956
228 SLC26A2 NM_000112.3(SLC26A2): c.*3580A> G single nucleotide variant Uncertain significance rs148424806 GRCh38 Chromosome 5, 149985393: 149985393
229 SLC26A2 NM_000112.3(SLC26A2): c.*3670G> A single nucleotide variant Likely benign rs76262875 GRCh37 Chromosome 5, 149365046: 149365046
230 SLC26A2 NM_000112.3(SLC26A2): c.*3670G> A single nucleotide variant Likely benign rs76262875 GRCh38 Chromosome 5, 149985483: 149985483
231 SLC26A2 NM_000112.3(SLC26A2): c.*4397A> G single nucleotide variant Uncertain significance rs547302746 GRCh37 Chromosome 5, 149365773: 149365773
232 SLC26A2 NM_000112.3(SLC26A2): c.*4397A> G single nucleotide variant Uncertain significance rs547302746 GRCh38 Chromosome 5, 149986210: 149986210
233 SLC26A2 NM_000112.3(SLC26A2): c.*4460G> T single nucleotide variant Likely benign rs111742763 GRCh37 Chromosome 5, 149365836: 149365836
234 SLC26A2 NM_000112.3(SLC26A2): c.*4460G> T single nucleotide variant Likely benign rs111742763 GRCh38 Chromosome 5, 149986273: 149986273
235 SLC26A2 NM_000112.3(SLC26A2): c.*4469delT deletion Benign rs397883627 GRCh37 Chromosome 5, 149365845: 149365845
236 SLC26A2 NM_000112.3(SLC26A2): c.*4469delT deletion Benign rs397883627 GRCh38 Chromosome 5, 149986282: 149986282
237 SLC26A2 NM_000112.3(SLC26A2): c.*4870dupT duplication Likely benign rs368872246 GRCh37 Chromosome 5, 149366246: 149366246
238 SLC26A2 NM_000112.3(SLC26A2): c.*4870dupT duplication Likely benign rs368872246 GRCh38 Chromosome 5, 149986683: 149986683
239 SLC26A2 NM_000112.3(SLC26A2): c.*5338T> C single nucleotide variant Benign rs17711997 GRCh37 Chromosome 5, 149366714: 149366714
240 SLC26A2 NM_000112.3(SLC26A2): c.*5338T> C single nucleotide variant Benign rs17711997 GRCh38 Chromosome 5, 149987151: 149987151
241 SLC26A2 NM_000112.3(SLC26A2): c.*5553G> A single nucleotide variant Benign rs10476926 GRCh37 Chromosome 5, 149366929: 149366929
242 SLC26A2 NM_000112.3(SLC26A2): c.*5553G> A single nucleotide variant Benign rs10476926 GRCh38 Chromosome 5, 149987366: 149987366
243 SLC26A2 NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter) single nucleotide variant Likely pathogenic rs1057517523 GRCh37 Chromosome 5, 149357400: 149357400
244 SLC26A2 NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter) single nucleotide variant Likely pathogenic rs1057517523 GRCh38 Chromosome 5, 149977837: 149977837
245 SLC26A2 NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs) deletion Likely pathogenic rs1057517496 GRCh37 Chromosome 5, 149357403: 149357403
246 SLC26A2 NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs) deletion Likely pathogenic rs1057517496 GRCh38 Chromosome 5, 149977840: 149977840
247 SLC26A2 NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs) deletion Likely pathogenic rs1057517462 GRCh38 Chromosome 5, 149977859: 149977859
248 SLC26A2 NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs) deletion Likely pathogenic rs1057517462 GRCh37 Chromosome 5, 149357422: 149357422
249 SLC26A2 NM_000112.3(SLC26A2): c.239_243dupGCAGT (p.Pro82Alafs) duplication Likely pathogenic rs1057517504 GRCh38 Chromosome 5, 149977891: 149977895
250 SLC26A2 NM_000112.3(SLC26A2): c.239_243dupGCAGT (p.Pro82Alafs) duplication Likely pathogenic rs1057517504 GRCh37 Chromosome 5, 149357454: 149357458
251 SLC26A2 NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs) deletion Likely pathogenic rs1057517527 GRCh37 Chromosome 5, 149357700: 149357701
252 SLC26A2 NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs) deletion Likely pathogenic rs1057517527 GRCh38 Chromosome 5, 149978137: 149978138
253 SLC26A2 NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter) single nucleotide variant Likely pathogenic rs1057517483 GRCh38 Chromosome 5, 149978193: 149978193
254 SLC26A2 NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter) single nucleotide variant Likely pathogenic rs1057517483 GRCh37 Chromosome 5, 149357756: 149357756
255 SLC26A2 NM_000112.3(SLC26A2): c.699+2T> C single nucleotide variant Pathogenic rs1057517461 GRCh38 Chromosome 5, 149978353: 149978353
256 SLC26A2 NM_000112.3(SLC26A2): c.699+2T> C single nucleotide variant Pathogenic rs1057517461 GRCh37 Chromosome 5, 149357916: 149357916
257 SLC26A2 NM_000112.3(SLC26A2): c.736_739delGTCT (p.Val246Thrfs) deletion Likely pathogenic rs1057517524 GRCh37 Chromosome 5, 149359892: 149359895
258 SLC26A2 NM_000112.3(SLC26A2): c.736_739delGTCT (p.Val246Thrfs) deletion Likely pathogenic rs1057517524 GRCh38 Chromosome 5, 149980329: 149980332
259 SLC26A2 NM_000112.3(SLC26A2): c.746C> G (p.Ser249Ter) single nucleotide variant Likely pathogenic rs1057517514 GRCh38 Chromosome 5, 149980339: 149980339
260 SLC26A2 NM_000112.3(SLC26A2): c.746C> G (p.Ser249Ter) single nucleotide variant Likely pathogenic rs1057517514 GRCh37 Chromosome 5, 149359902: 149359902
261 SLC26A2 NM_000112.3(SLC26A2): c.918delC (p.Thr307Profs) deletion Likely pathogenic rs1057517526 GRCh38 Chromosome 5, 149980511: 149980511
262 SLC26A2 NM_000112.3(SLC26A2): c.918delC (p.Thr307Profs) deletion Likely pathogenic rs1057517526 GRCh37 Chromosome 5, 149360074: 149360074
263 SLC26A2 NM_000112.3(SLC26A2): c.922delA (p.Ser308Alafs) deletion Likely pathogenic rs1057517495 GRCh37 Chromosome 5, 149360078: 149360078
264 SLC26A2 NM_000112.3(SLC26A2): c.922delA (p.Ser308Alafs) deletion Likely pathogenic rs1057517495 GRCh38 Chromosome 5, 149980515: 149980515
265 SLC26A2 NM_000112.3(SLC26A2): c.1060G> T (p.Glu354Ter) single nucleotide variant Likely pathogenic rs1057517532 GRCh37 Chromosome 5, 149360216: 149360216
266 SLC26A2 NM_000112.3(SLC26A2): c.1060G> T (p.Glu354Ter) single nucleotide variant Likely pathogenic rs1057517532 GRCh38 Chromosome 5, 149980653: 149980653
267 SLC26A2 NM_000112.3(SLC26A2): c.1311dupT (p.Ala438Cysfs) duplication Likely pathogenic rs1057517471 GRCh38 Chromosome 5, 149980904: 149980904
268 SLC26A2 NM_000112.3(SLC26A2): c.1311dupT (p.Ala438Cysfs) duplication Likely pathogenic rs1057517471 GRCh37 Chromosome 5, 149360467: 149360467
269 SLC26A2 NM_000112.3(SLC26A2): c.1338delA (p.Glu447Asnfs) deletion Likely pathogenic rs1057517502 GRCh38 Chromosome 5, 149980931: 149980931
270 SLC26A2 NM_000112.3(SLC26A2): c.1338delA (p.Glu447Asnfs) deletion Likely pathogenic rs1057517502 GRCh37 Chromosome 5, 149360494: 149360494
271 SLC26A2 NM_000112.3(SLC26A2): c.1537_1541dupGTTAT (p.Ile514Metfs) duplication Likely pathogenic rs1057517511 GRCh37 Chromosome 5, 149360693: 149360697
272 SLC26A2 NM_000112.3(SLC26A2): c.1537_1541dupGTTAT (p.Ile514Metfs) duplication Likely pathogenic rs1057517511 GRCh38 Chromosome 5, 149981130: 149981134
273 SLC26A2 NM_000112.3(SLC26A2): c.1649delA (p.Lys550Argfs) deletion Likely pathogenic rs1057517482 GRCh37 Chromosome 5, 149360805: 149360805
274 SLC26A2 NM_000112.3(SLC26A2): c.1649delA (p.Lys550Argfs) deletion Likely pathogenic rs1057517482 GRCh38 Chromosome 5, 149981242: 149981242
275 SLC26A2 NM_000112.3(SLC26A2): c.1806_1809delAACT (p.Thr603Serfs) deletion Likely pathogenic rs1057517530 GRCh37 Chromosome 5, 149360962: 149360965
276 SLC26A2 NM_000112.3(SLC26A2): c.1806_1809delAACT (p.Thr603Serfs) deletion Likely pathogenic rs1057517530 GRCh38 Chromosome 5, 149981399: 149981402
277 SLC26A2 NM_000112.3(SLC26A2): c.1955_1958delACTG (p.Asp652Alafs) deletion Likely pathogenic rs1057517474 GRCh37 Chromosome 5, 149361111: 149361114
278 SLC26A2 NM_000112.3(SLC26A2): c.1955_1958delACTG (p.Asp652Alafs) deletion Likely pathogenic rs1057517474 GRCh38 Chromosome 5, 149981548: 149981551
279 SLC26A2 NM_000112.3(SLC26A2): c.1982delC (p.Thr661Lysfs) deletion Likely pathogenic rs762137330 GRCh38 Chromosome 5, 149981575: 149981575
280 SLC26A2 NM_000112.3(SLC26A2): c.1982delC (p.Thr661Lysfs) deletion Likely pathogenic rs762137330 GRCh37 Chromosome 5, 149361138: 149361138
281 SLC26A2 NM_000112.3(SLC26A2): c.1998_1999delAC (p.Leu667Glufs) deletion Likely pathogenic rs1057517513 GRCh38 Chromosome 5, 149981591: 149981592
282 SLC26A2 NM_000112.3(SLC26A2): c.1998_1999delAC (p.Leu667Glufs) deletion Likely pathogenic rs1057517513 GRCh37 Chromosome 5, 149361154: 149361155

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:

(showing 3, show less)
# 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:

(showing 3, show less)
# 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:

(showing 21, show less)
# 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:

(showing 8, show less)
# 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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