MCID: DST005
MIFTS: 54

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 53 12 72 23 49 24 55 71 28 13 51 41 14 69
Diastrophic Dwarfism 23 49 24 55 71
Dtd 53 49 24 71
Dd 53 49 71
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 53

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive

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


HPO:

31
diastrophic dysplasia:
Inheritance autosomal recessive inheritance


GeneReviews:

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

Classifications:



Summaries for Diastrophic Dysplasia

NIH Rare Diseases : 49 Diastrophic dysplasia is a disorder of cartilage and bone development. Diastrophic dysplasia is characterized by shortened arms and legs, spinal deformities, hitchhiker thumbs, joint contractures, and joint pain (osteoarthritis). Joint contractures and spinal deformity tend to worsen with age. Mental development and intelligence are usually normal. Occasionally, children with diastrophic dysplasia die in infancy due to respiratory complications such as pneumonia. Management consists of maintaining joint position and mobility through physical therapy and casting. Surgical correction of clubfoot may be necessary. Arthroplasty of the hips and knees to decrease pain and increase motility may also be indicated. Indications for surgical correction of  scoliosis have not yet been established. Diastrophic dysplasia is caused by mutations in the SLC26A2 gene and is inherited in an autosomal recessive manner. Last updated: 6/22/2015

MalaCards based summary : Diastrophic Dysplasia, also known as diastrophic dwarfism, is related to atelosteogenesis and achondrogenesis, and has symptoms including joint stiffness, macrocephaly and hypertelorism. An important gene associated with Diastrophic Dysplasia is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Degradation of the extracellular matrix and Endochondral Ossification. Affiliated tissues include bone, skin and spinal cord, and related phenotypes are cellular and growth/size/body region

UniProtKB/Swiss-Prot : 71 Diastrophic dysplasia: An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities.

Genetics Home Reference : 24 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 : 72 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 78, show less)
# Related Disease Score Top Affiliating Genes
1 atelosteogenesis 30.4 COMP SLC26A2
2 achondrogenesis 30.4 COL2A1 SLC26A2
3 pseudoachondroplasia 30.0 COMP SLC26A2
4 otosclerosis 29.9 BMP2 SLC26A2 TGFB1
5 multiple epiphyseal dysplasia 29.8 COL2A1 COMP SLC26A2
6 spondyloepiphyseal dysplasia congenita 29.6 COL2A1 COMP SLC26A2
7 achondrogenesis, type ib 28.6 SLC26A2 SLC26A3 SLC26A4 SLC26A5
8 dentin dysplasia, type i 11.8
9 dentin dysplasia, type ii 11.8
10 parkinsonism-dystonia, infantile 11.7
11 dentin dysplasia 11.6
12 denys-drash syndrome 11.4
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 dwarfism 10.3
18 achondrogenesis, type ia 10.3 COL2A1 SLC26A2
19 synovial chondromatosis 10.2 BMP2 COL2A1
20 congenital chloride diarrhea 10.2 SLC26A2 SLC26A3
21 bone deterioration disease 10.2 BMP2 COL2A1
22 osteochondrosis 10.2 COL2A1 TGFB1
23 ischemic bone disease 10.2 BMP2 COL2A1
24 cervicitis 10.2
25 atelosteogenesis, type ii 10.1
26 deafness, autosomal dominant 20 10.1 SLC26A2 SLC26A3
27 bone structure disease 10.1 BMP2 COL2A1
28 osteofibrous dysplasia 10.1 BMP2 TGFB1
29 cartilage disease 10.1 COL2A1 COMP
30 achondrogenesis, type ii 10.1 COL2A1 COMP
31 bone fracture 10.1 BMP2 TGFB1
32 hypochondrogenesis 10.1 COL2A1 COMP
33 kniest dysplasia 10.1 COL2A1 COMP
34 osteonecrosis 10.1 BMP2 COL2A1
35 arteries, anomalies of 10.0
36 coronary artery anomaly 10.0
37 deafness, autosomal recessive 6 10.0 SLC26A3 SLC26A5
38 aortic valve disease 1 10.0 BMP2 TGFB1
39 endotheliitis 10.0
40 dyshormonogenic goiter 10.0 SLC26A2 SLC26A4
41 desbuquois dysplasia 10.0
42 osteochondrodysplasia 10.0 COL2A1 SLC26A2
43 microvascular complications of diabetes 3 10.0
44 microvascular complications of diabetes 4 10.0
45 microvascular complications of diabetes 6 10.0
46 microvascular complications of diabetes 7 10.0
47 myocardial infarction 9.9
48 skeletal dysplasias 9.9 COL2A1 COMP SLC26A2
49 bone development disease 9.9 COL2A1 COMP SLC26A2
50 leprosy 3 9.8
51 bone inflammation disease 9.8 COL2A1 COMP
52 cleft palate, isolated 9.8
53 spondyloepiphyseal dysplasia with congenital joint dislocations 9.8
54 body mass index quantitative trait locus 11 9.8
55 body mass index quantitative trait locus 9 9.8
56 body mass index quantitative trait locus 8 9.8
57 body mass index quantitative trait locus 4 9.8
58 body mass index quantitative trait locus 10 9.8
59 body mass index quantitative trait locus 7 9.8
60 body mass index quantitative trait locus 12 9.8
61 body mass index quantitative trait locus 14 9.8
62 body mass index quantitative trait locus 18 9.8
63 multiple mitochondrial dysfunctions syndrome 5 9.8
64 cerebral palsy 9.8
65 scoliosis 9.8
66 spondylolysis 9.8
67 cerebritis 9.8
68 collagenopathy type 2 alpha 1 9.8
69 spasticity 9.8
70 osteoarthritis 9.8 COL2A1 COMP TGFB1
71 gastric cancer 9.8
72 acute myocardial infarction 9.8
73 diabetes mellitus 9.8
74 heart disease 9.8
75 osteoporosis 9.7 BMP2 COL2A1 SLC26A2 TGFB1
76 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 SLC26A2 SLC26A4 SLC26A5
77 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 SLC26A4 SLC26A5
78 pendred syndrome 9.2 SLC26A2 SLC26A3 SLC26A4 SLC26A5

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:

53
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:

55 31 (showing 59, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 frequent (33%) Frequent (79-30%) HP:0001387
2 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
3 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
4 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
5 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
6 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
7 cerebral calcification 55 31 occasional (7.5%) Occasional (29-5%) HP:0002514
8 scoliosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002650
9 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
10 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
11 hip dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0001385
12 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
13 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
14 bowing of the long bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0006487
15 full cheeks 55 31 frequent (33%) Frequent (79-30%) HP:0000293
16 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
17 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
18 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
19 micromelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002983
20 joint hyperflexibility 55 31 occasional (7.5%) Occasional (29-5%) HP:0005692
21 abnormal form of the vertebral bodies 55 31 hallmark (90%) Very frequent (99-80%) HP:0003312
22 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
23 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
24 abnormality of the metacarpal bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0001163
25 visceral angiomatosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100761
26 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
27 elbow dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0003042
28 overfolded helix 55 31 frequent (33%) Frequent (79-30%) HP:0000396
29 abnormality of the ribs 55 31 hallmark (90%) Very frequent (99-80%) HP:0000772
30 increased bone mineral density 55 31 hallmark (90%) Very frequent (99-80%) HP:0011001
31 neonatal short-limb short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0008921
32 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0011800
33 camptodactyly of finger 55 31 frequent (33%) Frequent (79-30%) HP:0100490
34 ulnar deviation of finger 55 31 frequent (33%) Frequent (79-30%) HP:0009465
35 blue sclerae 55 31 frequent (33%) Frequent (79-30%) HP:0000592
36 abnormality of the clavicle 55 31 hallmark (90%) Very frequent (99-80%) HP:0000889
37 hyperextensible skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000974
38 hypoplastic cervical vertebrae 55 31 hallmark (90%) Very frequent (99-80%) HP:0008434
39 short finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009381
40 proximal placement of thumb 55 31 hallmark (90%) Very frequent (99-80%) HP:0009623
41 large earlobe 55 31 hallmark (90%) Very frequent (99-80%) HP:0009748
42 symphalangism affecting the phalanges of the hand 55 31 hallmark (90%) Very frequent (99-80%) HP:0009773
43 joint dislocation 55 Frequent (79-30%)
44 short long bone 31 HP:0003026
45 flattened epiphysis 31 HP:0003071
46 talipes equinovarus 31 HP:0001762
47 hoarse voice 31 HP:0001609
48 disproportionate short-limb short stature 31 HP:0008873
49 hip contracture 31 HP:0003273
50 kyphoscoliosis 31 HP:0002751
51 irregular epiphyses 31 HP:0010582
52 spinal cord compression 31 HP:0002176
53 laryngotracheal stenosis 31 HP:0004894
54 cervical kyphosis 31 HP:0002947
55 hitchhiker thumb 31 HP:0001234
56 glabellar hemangioma 31 HP:0001076
57 hypertrophic auricular cartilage 31 HP:0008608
58 costal cartilage calcification 31 HP:0006646
59 cystic lesions of the pinnae 31 HP:0010723

MGI Mouse Phenotypes related to Diastrophic Dysplasia:

43 (showing 6, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 BMP2 COL2A1 COMP SLC26A2 SLC26A3 TGFB1
2 growth/size/body region MP:0005378 9.8 BMP2 COL2A1 COMP SLC26A2 SLC26A3 SLC26A5
3 digestive/alimentary MP:0005381 9.72 BMP2 COL2A1 SLC26A3 SLC26A4 TGFB1
4 hearing/vestibular/ear MP:0005377 9.46 BMP2 COL2A1 SLC26A4 SLC26A5
5 limbs/digits/tail MP:0005371 9.26 BMP2 COL2A1 COMP SLC26A2
6 skeleton MP:0005390 9.1 BMP2 COL2A1 COMP SLC26A2 SLC26A4 TGFB1

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 28 SLC26A2

Anatomical Context for Diastrophic Dysplasia

MalaCards organs/tissues related to Diastrophic Dysplasia:

38
Bone, Skin, Spinal Cord, Lung, Cortex, Adrenal Cortex

Publications for Diastrophic Dysplasia

Articles related to Diastrophic Dysplasia:

(showing 109, 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
Management of a Parturient with Diastrophic Dysplasia. ( 26125691 )
2015
3
Gait Pattern and Lower Extremity Alignment in Children With Diastrophic Dysplasia. ( 26296216 )
2015
4
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia. ( 26206888 )
2015
5
Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up. ( 26692703 )
2015
6
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene. ( 26077908 )
2015
7
Corrections of lower limb deformities in patients with diastrophic dysplasia. ( 25430710 )
2014
8
Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion. ( 24591336 )
2014
9
Not just cerebral palsy: diastrophic dysplasia presenting as spastic quadriparesis. ( 24679608 )
2014
10
Diastrophic dysplasia - variant. ( 24632705 )
2014
11
Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland. ( 23389768 )
2013
12
A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. ( 23840040 )
2013
13
Diastrophic dysplasia: prenatal diagnosis and review of the literature. ( 23657516 )
2013
14
Prevention of auricular deformity in children with diastrophic dysplasia. ( 21414669 )
2011
15
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. ( 21155763 )
2011
16
Diastrophic dysplasia in a seven-year-old girl. Case study. ( 20693580 )
2010
17
The 3-dimensional configuration of the typical hip and knee in diastrophic dysplasia. ( 20502243 )
2010
18
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. ( 21077202 )
2010
19
Treatment of spinal deformities in patients with diastrophic dysplasia: a long-term, population based, retrospective outcome study. ( 19752701 )
2009
20
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. ( 18925670 )
2008
21
The 3-dimensional configuration of the typical foot and ankle in diastrophic dysplasia. ( 18157048 )
2008
22
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
23
Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. ( 17602446 )
2007
24
Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly. ( 18056413 )
2007
25
The diagnosis of art: diastrophic dysplasia and Hephaistos. ( 17277273 )
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
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. ( 15316973 )
2004
32
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. ( 15294877 )
2004
33
Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. ( 15308906 )
2004
34
Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells. ( 15513522 )
2004
35
Total knee arthroplasty in patients with diastrophic dysplasia. ( 14630837 )
2003
36
Total hip arthroplasty in diastrophic dysplasia. ( 12637429 )
2003
37
Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation. ( 12854932 )
2003
38
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. ( 14600463 )
2003
39
Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases. ( 12901408 )
2003
40
Early degeneration of the knee in diastrophic dysplasia: an MRI study. ( 14581774 )
2003
41
Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia? ( 12193993 )
2002
42
Lung function in diastrophic dysplasia. ( 11921457 )
2002
43
Magnetic resonance imaging analysis of hip joint development in patients with diastrophic dysplasia. ( 11856933 )
2002
44
Cervical spine in patients with diastrophic dysplasia--radiographic findings in 122 patients. ( 12195300 )
2002
45
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. ( 11241838 )
2001
46
Thoracic and lumbar spine in diastrophic dysplasia: a clinical and magnetic resonance imaging analysis. ( 11154540 )
2001
47
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. ( 11448940 )
2001
48
Manubrium sterni in patients with diastrophic dysplasia--radiological analysis of 50 patients. ( 11550766 )
2001
49
SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. ( 11457925 )
2001
50
Scoliosis in patients with diastrophic dysplasia: a new classification. ( 11474356 )
2001
51
Diastrophic dysplasia with severe primary kyphosis and 'monkey wrench' appearance of the femora. ( 11103546 )
2000
52
Double-layered manubrium sterni in young children with diastrophic dysplasia. ( 10876826 )
2000
53
Cervical spine in diastrophic dysplasia: an MRI analysis. ( 10641688 )
2000
54
Motor milestones in children with diastrophic dysplasia. ( 10912597 )
2000
55
The spine in diastrophic dysplasia. The surgical arthrodesis of thoracic and lumbar deformities in 21 patients. ( 10586456 )
1999
56
Health-related quality of life in patients with diastrophic dysplasia. ( 10847669 )
1999
57
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). ( 10482955 )
1999
58
Cervical kyphosis in diastrophic dysplasia. ( 10528373 )
1999
59
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. ( 10466420 )
1999
60
Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity. ( 9602486 )
1998
61
Diastrophic dysplasia diagnosed in a case published 100 years ago. ( 9600747 )
1998
62
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. ( 9575183 )
1998
63
Correlation between speech outcome and cephalometric dimensions in patients with diastrophic dysplasia. ( 9594377 )
1998
64
Transverse facial morphology in patients with diastrophic dysplasia. ( 9493075 )
1997
65
Cloning and characterization of the 5'-flanking region of the mouse diastrophic dysplasia sulfate transporter gene. ( 9325159 )
1997
66
Cloning of mouse diastrophic dysplasia sulfate transporter gene induced during osteoblast differentiation by bone morphogenetic protein-2. ( 9370300 )
1997
67
Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia. ( 9415482 )
1997
68
Growth in diastrophic dysplasia. ( 9108864 )
1997
69
Craniofacial structure in diastrophic dysplasia--a cephalometric study. ( 9332652 )
1997
70
Ultrasonography of the patellofemoral joint in diastrophic dysplasia. ( 9364394 )
1997
71
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. ( 8931695 )
1996
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
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans. ( 8702127 )
1996
74
Diastrophic dysplasia: extreme variability within a sibship. ( 8723083 )
1996
75
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. ( 8723100 )
1996
76
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
77
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. ( 8528239 )
1996
78
Phenotypic features of dentition in diastrophic dysplasia. ( 8872707 )
1996
79
Histopathology of fetal diastrophic dysplasia. ( 7778595 )
1995
80
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
81
Abnormal collagen cross-linking in the cartilage of a diastrophic dysplasia patient. ( 7633791 )
1995
82
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. ( 7923357 )
1994
83
Diastrophic dysplasia. ( 7896341 )
1994
84
Abnormality of type IX collagen in a patient with diastrophic dysplasia. ( 8160734 )
1994
85
Diastrophic Dysplasia ( 20301524 )
1993
86
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. ( 8487268 )
1993
87
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. ( 1345170 )
1992
88
Diastrophic dysplasia: a case report. ( 1340866 )
1992
89
Cementless hip arthroplasty in diastrophic dysplasia. ( 1431918 )
1992
90
Foot deformities in diastrophic dysplasia. An analysis of 102 patients. ( 1587898 )
1992
91
Light and electron microscopic abnormalities in diastrophic dysplasia growth cartilage. ( 1422977 )
1992
92
A linkage map spanning the locus for diastrophic dysplasia (DTD). ( 1783404 )
1991
93
The spine in diastrophic dysplasia. ( 1948373 )
1991
94
Atlanto-axial instability in diastrophic dysplasia. A case report. ( 2013604 )
1991
95
Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. ( 1978318 )
1990
96
Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia. ( 2732992 )
1989
97
Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound. ( 3065771 )
1988
98
Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks. ( 3300333 )
1987
99
Metacarpophalangeal pattern profile analysis in diastrophic dysplasia. ( 3425635 )
1987
100
Cleft palate in diastrophic dysplasia. Morphology, results of treatment and complications. ( 3775293 )
1986
101
Lethal and non-lethal diastrophic dysplasia. A study of 14 Swedish cases. ( 4064368 )
1985
102
Diastrophic dysplasia: case report. ( 2938081 )
1985
103
A pair of siblings with diastrophic dysplasia and E trisomy mosaicism. ( 6479995 )
1984
104
Early prenatal detection of diastrophic dysplasia. ( 6622405 )
1983
105
Abnormal pattern of segment long spacing (SLS) cartilage collagen in diastrophic dysplasia. ( 7105649 )
1982
106
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. ( 6298815 )
1982
107
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. ( 6803579 )
1982
108
Diastrophic dysplasia: the death of a variant. ( 6787663 )
1981
109
The phenotypic variability of diastrophic dysplasia. ( 702237 )
1978

Variations for Diastrophic Dysplasia

ClinVar genetic disease variations for Diastrophic Dysplasia:

6 (showing 48, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.1157C> T (p.Ala386Val) single nucleotide variant Likely pathogenic rs386833493 GRCh37 Chromosome 5, 149360313: 149360313
2 SLC26A2 NM_000112.3(SLC26A2): c.1242_1245delAAAC (p.Asn415Argfs) deletion Likely pathogenic rs386833494 GRCh37 Chromosome 5, 149360398: 149360401
3 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh37 Chromosome 5, 149360550: 149360550
4 SLC26A2 NM_000112.3(SLC26A2): c.1451G> A (p.Gly484Asp) single nucleotide variant Likely pathogenic rs386833496 GRCh37 Chromosome 5, 149360607: 149360607
5 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh37 Chromosome 5, 149361132: 149361132
6 SLC26A2 NM_000112.3(SLC26A2): c.1983delA (p.Ala662Glnfs) deletion Likely pathogenic rs386833500 GRCh37 Chromosome 5, 149361139: 149361139
7 SLC26A2 NM_000112.3(SLC26A2): c.2120_2121delTT (p.Leu707Profs) deletion Likely pathogenic rs386833501 GRCh37 Chromosome 5, 149361276: 149361277
8 SLC26A2 NM_000112.3(SLC26A2): c.255delC (p.Asn87Ilefs) deletion Likely pathogenic rs386833502 GRCh37 Chromosome 5, 149357470: 149357470
9 SLC26A2 NM_000112.3(SLC26A2): c.331G> T (p.Asp111Tyr) single nucleotide variant Likely pathogenic rs386833503 GRCh37 Chromosome 5, 149357546: 149357546
10 SLC26A2 NM_000112.3(SLC26A2): c.403C> A (p.Gln135Lys) single nucleotide variant Likely pathogenic rs386833504 GRCh37 Chromosome 5, 149357618: 149357618
11 SLC26A2 NM_000112.3(SLC26A2): c.47C> G (p.Ser16Ter) single nucleotide variant Likely pathogenic rs386833505 GRCh37 Chromosome 5, 149357262: 149357262
12 SLC26A2 NM_000112.3(SLC26A2): c.496G> A (p.Gly166Arg) single nucleotide variant Likely pathogenic rs386833506 GRCh37 Chromosome 5, 149357711: 149357711
13 SLC26A2 NM_000112.3(SLC26A2): c.55G> T (p.Gly19Ter) single nucleotide variant Likely pathogenic rs386833507 GRCh37 Chromosome 5, 149357270: 149357270
14 SLC26A2 NM_000112.3(SLC26A2): c.700-1G> C single nucleotide variant Likely pathogenic rs200963884 GRCh37 Chromosome 5, 149359855: 149359855
15 SLC26A2 NM_000112.3(SLC26A2): c.705_711delGATGGGC (p.Met236Serfs) deletion Likely pathogenic rs386833508 GRCh37 Chromosome 5, 149359861: 149359867
16 SLC26A2 NM_000112.3(SLC26A2): c.906_907delCT (p.Cys303Terfs) deletion Likely pathogenic rs386833509 GRCh37 Chromosome 5, 149360062: 149360063
17 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh37 Chromosome 5, 149360176: 149360178
18 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic/Likely pathogenic rs386833498 GRCh38 Chromosome 5, 149981317: 149981317
19 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Pathogenic/Likely pathogenic rs786200881 GRCh37 Chromosome 5, 149357606: 149357606
20 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh37 Chromosome 5, 149359991: 149359991
21 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh37 Chromosome 5, 149357747: 149357747
22 SLC26A2 NM_000112.3(SLC26A2): c.1273A> G (p.Asn425Asp) single nucleotide variant Pathogenic rs104893920 GRCh37 Chromosome 5, 149360429: 149360429
23 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Pathogenic/Likely pathogenic rs104893916 GRCh37 Chromosome 5, 149361189: 149361189
24 SLC26A2 NM_000112.3(SLC26A2): c.1361A> C (p.Gln454Pro) single nucleotide variant Pathogenic rs104893921 GRCh37 Chromosome 5, 149360517: 149360517
25 SLC26A2 NM_000112.3(SLC26A2): c.-26+2T> C single nucleotide variant Pathogenic rs386833492 GRCh38 Chromosome 5, 149960981: 149960981
26 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh37 Chromosome 5, 149361113: 149361113
27 SLC26A2 NM_000112.3(SLC26A2): c.1535C> A (p.Thr512Lys) single nucleotide variant Pathogenic rs121908078 GRCh37 Chromosome 5, 149360691: 149360691
28 SLC26A2 NM_000112.3(SLC26A2): c.398C> T (p.Ala133Val) single nucleotide variant Pathogenic rs267607055 GRCh37 Chromosome 5, 149357613: 149357613
29 SLC26A2 NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter) single nucleotide variant Likely pathogenic rs1057517523 GRCh37 Chromosome 5, 149357400: 149357400
30 SLC26A2 NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs) deletion Likely pathogenic rs1057517496 GRCh37 Chromosome 5, 149357403: 149357403
31 SLC26A2 NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs) deletion Likely pathogenic rs1057517462 GRCh38 Chromosome 5, 149977859: 149977859
32 SLC26A2 NM_000112.3(SLC26A2): c.239_243dupGCAGT (p.Pro82Alafs) duplication Likely pathogenic rs1057517504 GRCh38 Chromosome 5, 149977891: 149977895
33 SLC26A2 NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs) deletion Likely pathogenic rs1057517527 GRCh37 Chromosome 5, 149357700: 149357701
34 SLC26A2 NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter) single nucleotide variant Likely pathogenic rs1057517483 GRCh38 Chromosome 5, 149978193: 149978193
35 SLC26A2 NM_000112.3(SLC26A2): c.699+2T> C single nucleotide variant Pathogenic rs1057517461 GRCh38 Chromosome 5, 149978353: 149978353
36 SLC26A2 NM_000112.3(SLC26A2): c.736_739delGTCT (p.Val246Thrfs) deletion Likely pathogenic rs1057517524 GRCh37 Chromosome 5, 149359892: 149359895
37 SLC26A2 NM_000112.3(SLC26A2): c.746C> G (p.Ser249Ter) single nucleotide variant Likely pathogenic rs1057517514 GRCh38 Chromosome 5, 149980339: 149980339
38 SLC26A2 NM_000112.3(SLC26A2): c.918delC (p.Thr307Profs) deletion Likely pathogenic rs1057517526 GRCh38 Chromosome 5, 149980511: 149980511
39 SLC26A2 NM_000112.3(SLC26A2): c.922delA (p.Ser308Alafs) deletion Likely pathogenic rs1057517495 GRCh37 Chromosome 5, 149360078: 149360078
40 SLC26A2 NM_000112.3(SLC26A2): c.1060G> T (p.Glu354Ter) single nucleotide variant Likely pathogenic rs1057517532 GRCh38 Chromosome 5, 149980653: 149980653
41 SLC26A2 NM_000112.3(SLC26A2): c.1311dupT (p.Ala438Cysfs) duplication Likely pathogenic rs1057517471 GRCh38 Chromosome 5, 149980904: 149980904
42 SLC26A2 NM_000112.3(SLC26A2): c.1338delA (p.Glu447Asnfs) deletion Likely pathogenic rs1057517502 GRCh38 Chromosome 5, 149980931: 149980931
43 SLC26A2 NM_000112.3(SLC26A2): c.1537_1541dupGTTAT (p.Ile514Metfs) duplication Likely pathogenic rs1057517511 GRCh37 Chromosome 5, 149360693: 149360697
44 SLC26A2 NM_000112.3(SLC26A2): c.1649delA (p.Lys550Argfs) deletion Likely pathogenic rs1057517482 GRCh38 Chromosome 5, 149981242: 149981242
45 SLC26A2 NM_000112.3(SLC26A2): c.1806_1809delAACT (p.Thr603Serfs) deletion Likely pathogenic rs1057517530 GRCh38 Chromosome 5, 149981399: 149981402
46 SLC26A2 NM_000112.3(SLC26A2): c.1955_1958delACTG (p.Asp652Alafs) deletion Likely pathogenic rs1057517474 GRCh37 Chromosome 5, 149361111: 149361114
47 SLC26A2 NM_000112.3(SLC26A2): c.1982delC (p.Thr661Lysfs) deletion Likely pathogenic rs762137330 GRCh37 Chromosome 5, 149361138: 149361138
48 SLC26A2 NM_000112.3(SLC26A2): c.1998_1999delAC (p.Leu667Glufs) deletion Likely pathogenic rs1057517513 GRCh38 Chromosome 5, 149981591: 149981592

Expression for Diastrophic Dysplasia

Search GEO for disease gene expression data for Diastrophic Dysplasia.

Pathways for Diastrophic Dysplasia

GO Terms for Diastrophic Dysplasia

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

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.43 COL2A1 COMP TGFB1
2 proteinaceous extracellular matrix GO:0005578 9.33 COL2A1 COMP TGFB1
3 brush border membrane GO:0031526 8.96 SLC26A3 SLC26A4
4 apical plasma membrane GO:0016324 8.8 SLC26A2 SLC26A3 SLC26A4

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

(showing 28, show less)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.88 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 skeletal system development GO:0001501 9.74 BMP2 COL2A1 COMP
3 sensory perception of sound GO:0007605 9.73 COL2A1 SLC26A4 SLC26A5
4 ossification GO:0001503 9.71 BMP2 COL2A1 SLC26A2
5 chloride transmembrane transport GO:1902476 9.71 SLC26A2 SLC26A3 SLC26A4 SLC26A5
6 regulation of membrane potential GO:0042391 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
7 inner ear development GO:0048839 9.65 BMP2 COL2A1 TGFB1
8 SMAD protein signal transduction GO:0060395 9.64 BMP2 TGFB1
9 cellular response to growth factor stimulus GO:0071363 9.63 BMP2 TGFB1
10 cell development GO:0048468 9.63 BMP2 TGFB1
11 anion transmembrane transport GO:0098656 9.63 SLC26A3 SLC26A4 SLC26A5
12 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.62 BMP2 TGFB1
13 positive regulation of epithelial to mesenchymal transition GO:0010718 9.62 BMP2 TGFB1
14 bicarbonate transport GO:0015701 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
15 negative regulation of cell cycle GO:0045786 9.61 BMP2 TGFB1
16 epithelial to mesenchymal transition GO:0001837 9.61 BMP2 TGFB1
17 chondrocyte differentiation GO:0002062 9.61 BMP2 COL2A1 TGFB1
18 cellular response to BMP stimulus GO:0071773 9.6 BMP2 COL2A1
19 positive regulation of bone mineralization GO:0030501 9.59 BMP2 TGFB1
20 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.58 BMP2 TGFB1
21 regulation of intracellular pH GO:0051453 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
22 pathway-restricted SMAD protein phosphorylation GO:0060389 9.55 BMP2 TGFB1
23 proteoglycan metabolic process GO:0006029 9.52 BMP2 COL2A1
24 response to salt GO:1902074 9.51 SLC26A5 TGFB1
25 positive regulation of odontogenesis GO:0042482 9.49 BMP2 TGFB1
26 sulfate transport GO:0008272 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
27 sulfate transmembrane transport GO:1902358 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
28 oxalate transport GO:0019532 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5

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

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 anion:anion antiporter activity GO:0015301 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
3 bicarbonate transmembrane transporter activity GO:0015106 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
4 extracellular matrix structural constituent GO:0005201 9.46 COL2A1 COMP
5 sulfate transmembrane transporter activity GO:0015116 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
6 transforming growth factor beta receptor binding GO:0005160 9.43 BMP2 TGFB1
7 chloride transmembrane transporter activity GO:0015108 9.4 SLC26A3 SLC26A4
8 secondary active sulfate transmembrane transporter activity GO:0008271 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
9 oxalate transmembrane transporter activity GO:0019531 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5

Sources for Diastrophic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....