MCID: DST005
MIFTS: 53

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 54 12 23 50 24 25 56 71 29 13 52 42 14 69
Diastrophic Dwarfism 23 50 24 25 56 71
Dtd 50 24 25 71
Dd 50 71
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 54

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
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:

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

Classifications:



Summaries for Diastrophic Dysplasia

NIH Rare Diseases : 50 diastrophic dysplasia is a disorder of cartilage and bone development. diastrophic dysplasia is characterized by shortened arms and legs, spinal deformities, hitchhiker thumbs, joint contractures, and joint pain (osteoarthritis). joint contractures and spinal deformity tend to worsen with age. mental development and intelligence are usually normal. occasionally, children with diastrophic dysplasia die in infancy due to respiratory complications such as pneumonia. management consists of maintaining joint position and mobility through physical therapy and casting. surgical correction of clubfoot may be necessary. arthroplasty of the hips and knees to decrease pain and increase motility may also be indicated. indications for surgical correction of  scoliosis have not yet been established. diastrophic dysplasia is caused by mutations in the slc26a2 gene and is inherited in an autosomal recessive manner. last updated: 6/22/2015

MalaCards based summary : Diastrophic Dysplasia, also known as diastrophic dwarfism, is related to dentin dysplasia, type i, with microdontia and misshapen teeth and denys-drash syndrome, and has symptoms including scoliosis, recurrent respiratory infections and micrognathia. An important gene associated with Diastrophic Dysplasia is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Malaria and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, skin and spinal cord, and related phenotypes are growth/size/body region and digestive/alimentary

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 : 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 : 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 68, show less)
id Related Disease Score Top Affiliating Genes
1 dentin dysplasia, type i, with microdontia and misshapen teeth 11.7
2 denys-drash syndrome 11.6
3 dentin dysplasia, type ii 11.6
4 parkinsonism-dystonia, infantile 11.5
5 pseudodiastrophic dysplasia 11.3
6 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.9
7 mohr-tranebjaerg syndrome 10.9
8 dissociative disorder 10.8
9 darier disease 10.7
10 dentin dysplasia 10.7
11 leber congenital amaurosis 3 10.5 COL2A1 SLC26A2
12 stickler syndrome 10.5 COL2A1 SLC26A2
13 myopathy with extrapyramidal signs 10.4 COL2A1 SLC26A2
14 syringobulbia 10.4 BMP2 COL2A1
15 secretory diarrhea myopathy and deafness 10.4 SLC26A2 SLC26A3
16 bone structure disease 10.3 BMP2 COL2A1
17 splenic flexure cancer 10.3 BMP2 SLC26A2
18 bone resorption disease 10.3 BMP2 COL2A1
19 dwarfism 10.3
20 autosomal dominant nonsyndromic deafness 69 10.3 SLC26A2 SLC26A3
21 chromosomal disease 10.3 BMP2 COL2A1
22 hemolytic anemia due to glutathione synthetase deficiency 10.2 COL2A1 COMP
23 cerebral hemorrhage 10.2 COL2A1 COMP
24 smed strudwick type 10.2 COL2A1 COMP
25 atrioventricular septal defect 10.2 COMP SLC26A2
26 ovarian insufficiency, familial 10.2 BMP2 COL2A1
27 acromesomelic dysplasia 10.2 COL2A1 COMP
28 achondrogenesis, type ii or hypochondrogenesis 10.2 COL2A1 COMP
29 physical disorder 10.1 BMP2 IL6
30 vulvovaginitis 10.1 COL2A1 SLC26A2
31 cervicitis 10.1
32 atelosteogenesis 10.1
33 vulvar sarcoma 10.1 COMP IL6
34 robinow syndrome, autosomal dominant 1 10.1 SLC26A3 SLC26A5
35 hemangioma of spleen 10.1 COMP IL6
36 epiphyseal dysplasia, multiple, 1 10.1 COMP SLC26A2
37 echinostomiasis 10.1 SLC26A2 SLC26A4
38 pleomorphic lipoma 10.1 BMP2 IL6
39 artery disease 10.0
40 coronary artery disease 10.0
41 pseudoachondroplasia 9.9
42 desbuquois dysplasia 9.9
43 achondrogenesis 9.9
44 otosclerosis 9.9
45 multiple epiphyseal dysplasia 9.9
46 endotheliitis 9.9
47 skin fragility-woolly hair-palmoplantar keratoderma syndrome 9.9 COL2A1 COMP SLC26A2
48 sulfite oxidase deficiency 9.9 COL2A1 COMP SLC26A2
49 slc6a4-related altered drug metabolism 9.9 COL2A1 COMP SLC26A2
50 ischemic bone disease 9.9 COL2A1 COMP SLC26A2
51 intermediate uveitis 9.9 COL2A1 COMP SLC26A2
52 myocardial infarction 9.8
53 mesenchymal cell neoplasm 9.8 COL2A1 COMP IL6
54 cerebritis 9.8
55 spasticity 9.8
56 cerebral palsy 9.8
57 scoliosis 9.8
58 obesity 9.8
59 spondylolysis 9.8
60 leprosy 9.8
61 synovium cancer 9.8 COMP IL6
62 osteochondrosis 9.8 COL2A1 COMP IL6
63 testicular granulosa cell tumor 9.7 COL2A1 IL6
64 dihydrolipoamide dehydrogenase deficiency 9.6 SLC26A2 SLC26A4 SLC26A5
65 discrete papular lichen myxedematosus 9.4 SLC26A4 SLC26A5
66 epiphyseal dysplasia, multiple, 4 9.1 SLC26A2 SLC26A3 SLC26A4 SLC26A5
67 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.1 SLC26A2 SLC26A3 SLC26A4 SLC26A5
68 atelosteogenesis ii 7.2 BMP2 COL2A1 COMP IL6 SLC26A2 SLC26A3

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:

54

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

Skeletal- Spine:
kyphoscoliosis
cervical kyphosis
hypoplastic cervical vertebrae

Skeletal- Feet:
talipes equinovarus

Skeletal- Hands:
hitchhiker thumb
short finger with ulnar deviation

Head And Neck- Head:
normocephaly

Respiratory:
laryngotracheal stenosis

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

Voice:
characteristic hoarse voice

Head And Neck- Mouth:
cleft palate

Skeletal- Pelvis:
hip contractures

Neurologic- Central Nervous System:
normal intelligence
spinal cord compression

Growth- Other:
short-limb dwarfism identifiable at birth

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

Chest:
costal cartilage calcification

Skin Nails & Hair- Skin:
glabellar hemangioma


Clinical features from OMIM:

222600

Human phenotypes related to Diastrophic Dysplasia:

56 32 (showing 60, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
2 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
3 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
4 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
6 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
7 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
8 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
9 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
10 elbow dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0003042
11 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
12 full cheeks 56 32 frequent (33%) Frequent (79-30%) HP:0000293
13 joint stiffness 56 32 frequent (33%) Frequent (79-30%) HP:0001387
14 midface retrusion 56 32 hallmark (90%) Very frequent (99-80%) HP:0011800
15 respiratory insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0002093
16 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
17 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
18 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
19 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
20 blue sclerae 56 32 frequent (33%) Frequent (79-30%) HP:0000592
21 hip dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0001385
22 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
23 hypoplastic cervical vertebrae 56 32 hallmark (90%) Very frequent (99-80%) HP:0008434
24 cerebral calcification 56 32 occasional (7.5%) Occasional (29-5%) HP:0002514
25 hyperextensible skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000974
26 bowing of the long bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0006487
27 increased bone mineral density 56 32 hallmark (90%) Very frequent (99-80%) HP:0011001
28 overfolded helix 56 32 frequent (33%) Frequent (79-30%) HP:0000396
29 abnormality of epiphysis morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0005930
30 abnormal form of the vertebral bodies 56 32 hallmark (90%) Very frequent (99-80%) HP:0003312
31 abnormality of the metacarpal bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0001163
32 visceral angiomatosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0100761
33 abnormality of the ribs 56 32 hallmark (90%) Very frequent (99-80%) HP:0000772
34 neonatal short-limb short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0008921
35 camptodactyly of finger 56 32 frequent (33%) Frequent (79-30%) HP:0100490
36 ulnar deviation of finger 56 32 frequent (33%) Frequent (79-30%) HP:0009465
37 abnormality of the clavicle 56 32 hallmark (90%) Very frequent (99-80%) HP:0000889
38 short finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009381
39 proximal placement of thumb 56 32 hallmark (90%) Very frequent (99-80%) HP:0009623
40 large earlobe 56 32 hallmark (90%) Very frequent (99-80%) HP:0009748
41 symphalangism affecting the phalanges of the hand 56 32 hallmark (90%) Very frequent (99-80%) HP:0009773
42 kyphoscoliosis 32 HP:0002751
43 talipes equinovarus 32 HP:0001762
44 spinal cord compression 32 HP:0002176
45 cervical kyphosis 32 HP:0002947
46 hitchhiker thumb 32 HP:0001234
47 hoarse voice 32 HP:0001609
48 hypertrophic auricular cartilage 32 HP:0008608
49 laryngotracheal stenosis 32 HP:0004894
50 costal cartilage calcification 32 HP:0006646
51 glabellar hemangioma 32 HP:0001076
52 joint dislocation 56 Frequent (79-30%)
53 irregular epiphyses 32 HP:0010582
54 abnormality of the metaphyses 56 Very frequent (99-80%)
55 short long bone 32 HP:0003026
56 flattened epiphysis 32 HP:0003071
57 disproportionate short-limb short stature 32 HP:0008873
58 hip contracture 32 HP:0003273
59 cystic lesions of the pinnae 32 HP:0010723
60 abnormality of the metaphysis 32 hallmark (90%) HP:0000944

MGI Mouse Phenotypes related to Diastrophic Dysplasia:

44 (showing 5, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.8 BMP2 COL2A1 COMP IL6 SLC26A2 SLC26A3
2 digestive/alimentary MP:0005381 9.72 BMP2 COL2A1 IL6 SLC26A3 SLC26A4
3 hearing/vestibular/ear MP:0005377 9.46 BMP2 COL2A1 SLC26A4 SLC26A5
4 limbs/digits/tail MP:0005371 9.26 BMP2 COL2A1 COMP SLC26A2
5 skeleton MP:0005390 9.1 BMP2 COL2A1 COMP IL6 SLC26A2 SLC26A4

Drugs & Therapeutics for Diastrophic Dysplasia

Search Clinical Trials , NIH Clinical Center for Diastrophic Dysplasia

Cochrane evidence based reviews: diastrophic dysplasia

Genetic Tests for Diastrophic Dysplasia

Genetic tests related to Diastrophic Dysplasia:

id Genetic test Affiliating Genes
1 Diastrophic Dysplasia 29 24 SLC26A2

Anatomical Context for Diastrophic Dysplasia

MalaCards organs/tissues related to Diastrophic Dysplasia:

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

Publications for Diastrophic Dysplasia

Articles related to Diastrophic Dysplasia:

(showing 110, show less)
id 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
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene. ( 26077908 )
2015
4
Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up. ( 26692703 )
2015
5
Gait Pattern and Lower Extremity Alignment in Children With Diastrophic Dysplasia. ( 26296216 )
2015
6
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia. ( 26206888 )
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
Diastrophic dysplasia - variant. ( 24632705 )
2014
10
Not just cerebral palsy: diastrophic dysplasia presenting as spastic quadriparesis. ( 24679608 )
2014
11
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
12
Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland. ( 23389768 )
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
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. ( 21077202 )
2010
17
The 3-dimensional configuration of the typical hip and knee in diastrophic dysplasia. ( 20502243 )
2010
18
Diastrophic dysplasia in a seven-year-old girl. Case study. ( 20693580 )
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
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. ( 16642506 )
2006
27
Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. ( 16954997 )
2006
28
The diagnosis of art: diastrophic dysplasia and Hephaistos. ( 22135839 )
2006
29
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. ( 15703192 )
2005
30
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. ( 15294877 )
2004
31
Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells. ( 15513522 )
2004
32
Diastrophic dysplasia: prenatal three-dimensional ultrasound findings. ( 15027028 )
2004
33
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. ( 15316973 )
2004
34
Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. ( 15308906 )
2004
35
Early degeneration of the knee in diastrophic dysplasia: an MRI study. ( 14581774 )
2003
36
Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases. ( 12901408 )
2003
37
Total hip arthroplasty in diastrophic dysplasia. ( 12637429 )
2003
38
Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation. ( 12854932 )
2003
39
Total knee arthroplasty in patients with diastrophic dysplasia. ( 14630837 )
2003
40
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. ( 14600463 )
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
Magnetic resonance imaging analysis of hip joint development in patients with diastrophic dysplasia. ( 11856933 )
2002
44
Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia? ( 12193993 )
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
Manubrium sterni in patients with diastrophic dysplasia--radiological analysis of 50 patients. ( 11550766 )
2001
48
Thoracic and lumbar spine in diastrophic dysplasia: a clinical and magnetic resonance imaging analysis. ( 11154540 )
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
Cervical spine in diastrophic dysplasia: an MRI analysis. ( 10641688 )
2000
52
Double-layered manubrium sterni in young children with diastrophic dysplasia. ( 10876826 )
2000
53
Diastrophic dysplasia with severe primary kyphosis and 'monkey wrench' appearance of the femora. ( 11103546 )
2000
54
Motor milestones in children with diastrophic dysplasia. ( 10912597 )
2000
55
Health-related quality of life in patients with diastrophic dysplasia. ( 10847669 )
1999
56
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). ( 10482955 )
1999
57
The spine in diastrophic dysplasia. The surgical arthrodesis of thoracic and lumbar deformities in 21 patients. ( 10586456 )
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
Diastrophic dysplasia diagnosed in a case published 100 years ago. ( 9600747 )
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
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. ( 9575183 )
1998
64
Correlation between speech outcome and cephalometric dimensions in patients with diastrophic dysplasia. ( 9594377 )
1998
65
Growth in diastrophic dysplasia. ( 9108864 )
1997
66
Craniofacial structure in diastrophic dysplasia--a cephalometric study. ( 9332652 )
1997
67
Ultrasonography of the patellofemoral joint in diastrophic dysplasia. ( 9364394 )
1997
68
Cloning of mouse diastrophic dysplasia sulfate transporter gene induced during osteoblast differentiation by bone morphogenetic protein-2. ( 9370300 )
1997
69
Transverse facial morphology in patients with diastrophic dysplasia. ( 9493075 )
1997
70
Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia. ( 9415482 )
1997
71
Cloning and characterization of the 5'-flanking region of the mouse diastrophic dysplasia sulfate transporter gene. ( 9325159 )
1997
72
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. ( 8723100 )
1996
73
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. ( 8528239 )
1996
74
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
75
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. ( 8931695 )
1996
76
Diastrophic dysplasia: extreme variability within a sibship. ( 8723083 )
1996
77
Phenotypic features of dentition in diastrophic dysplasia. ( 8872707 )
1996
78
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
79
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans. ( 8702127 )
1996
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
Histopathology of fetal diastrophic dysplasia. ( 7778595 )
1995
83
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. ( 7923357 )
1994
84
Diastrophic dysplasia. ( 7896341 )
1994
85
Abnormality of type IX collagen in a patient with diastrophic dysplasia. ( 8160734 )
1994
86
Diastrophic Dysplasia ( 20301524 )
1993
87
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. ( 8487268 )
1993
88
Light and electron microscopic abnormalities in diastrophic dysplasia growth cartilage. ( 1422977 )
1992
89
Cementless hip arthroplasty in diastrophic dysplasia. ( 1431918 )
1992
90
Diastrophic dysplasia: a case report. ( 1340866 )
1992
91
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. ( 1345170 )
1992
92
Foot deformities in diastrophic dysplasia. An analysis of 102 patients. ( 1587898 )
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
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. ( 6298815 )
1982
107
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. ( 6803579 )
1982
108
Abnormal pattern of segment long spacing (SLS) cartilage collagen in diastrophic dysplasia. ( 7105649 )
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 48, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic/Likely pathogenic rs386833498 GRCh38 Chromosome 5, 149981317: 149981317
2 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Pathogenic/Likely pathogenic rs786200881 GRCh37 Chromosome 5, 149357606: 149357606
3 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh37 Chromosome 5, 149359991: 149359991
4 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh37 Chromosome 5, 149357747: 149357747
5 SLC26A2 NM_000112.3(SLC26A2): c.1273A> G (p.Asn425Asp) single nucleotide variant Pathogenic rs104893920 GRCh37 Chromosome 5, 149360429: 149360429
6 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Pathogenic/Likely pathogenic rs104893916 GRCh37 Chromosome 5, 149361189: 149361189
7 SLC26A2 NM_000112.3(SLC26A2): c.1361A> C (p.Gln454Pro) single nucleotide variant Pathogenic rs104893921 GRCh37 Chromosome 5, 149360517: 149360517
8 SLC26A2 NM_000112.3(SLC26A2): c.-26+2T> C single nucleotide variant Pathogenic rs386833492 GRCh38 Chromosome 5, 149960981: 149960981
9 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh37 Chromosome 5, 149361113: 149361113
10 SLC26A2 NM_000112.3(SLC26A2): c.1535C> A (p.Thr512Lys) single nucleotide variant Pathogenic rs121908078 GRCh37 Chromosome 5, 149360691: 149360691
11 SLC26A2 NM_000112.3(SLC26A2): c.398C> T (p.Ala133Val) single nucleotide variant Pathogenic rs267607055 GRCh37 Chromosome 5, 149357613: 149357613
12 SLC26A2 NM_000112.3(SLC26A2): c.55G> T (p.Gly19Ter) single nucleotide variant Likely pathogenic rs386833507 GRCh37 Chromosome 5, 149357270: 149357270
13 SLC26A2 NM_000112.3(SLC26A2): c.1157C> T (p.Ala386Val) single nucleotide variant Likely pathogenic rs386833493 GRCh37 Chromosome 5, 149360313: 149360313
14 SLC26A2 NM_000112.3(SLC26A2): c.1242_1245delAAAC (p.Asn415Argfs) deletion Likely pathogenic rs386833494 GRCh37 Chromosome 5, 149360398: 149360401
15 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh37 Chromosome 5, 149360550: 149360550
16 SLC26A2 NM_000112.3(SLC26A2): c.1451G> A (p.Gly484Asp) single nucleotide variant Likely pathogenic rs386833496 GRCh37 Chromosome 5, 149360607: 149360607
17 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh37 Chromosome 5, 149361132: 149361132
18 SLC26A2 NM_000112.3(SLC26A2): c.1983delA (p.Ala662Glnfs) deletion Likely pathogenic rs386833500 GRCh37 Chromosome 5, 149361139: 149361139
19 SLC26A2 NM_000112.3(SLC26A2): c.2120_2121delTT (p.Leu707Profs) deletion Likely pathogenic rs386833501 GRCh37 Chromosome 5, 149361276: 149361277
20 SLC26A2 NM_000112.3(SLC26A2): c.255delC (p.Asn87Ilefs) deletion Likely pathogenic rs386833502 GRCh37 Chromosome 5, 149357470: 149357470
21 SLC26A2 NM_000112.3(SLC26A2): c.331G> T (p.Asp111Tyr) single nucleotide variant Likely pathogenic rs386833503 GRCh37 Chromosome 5, 149357546: 149357546
22 SLC26A2 NM_000112.3(SLC26A2): c.403C> A (p.Gln135Lys) single nucleotide variant Likely pathogenic rs386833504 GRCh37 Chromosome 5, 149357618: 149357618
23 SLC26A2 NM_000112.3(SLC26A2): c.47C> G (p.Ser16Ter) single nucleotide variant Likely pathogenic rs386833505 GRCh37 Chromosome 5, 149357262: 149357262
24 SLC26A2 NM_000112.3(SLC26A2): c.496G> A (p.Gly166Arg) single nucleotide variant Likely pathogenic rs386833506 GRCh37 Chromosome 5, 149357711: 149357711
25 SLC26A2 NM_000112.3(SLC26A2): c.700-1G> C single nucleotide variant Likely pathogenic rs200963884 GRCh37 Chromosome 5, 149359855: 149359855
26 SLC26A2 NM_000112.3(SLC26A2): c.705_711delGATGGGC (p.Met236Serfs) deletion Likely pathogenic rs386833508 GRCh37 Chromosome 5, 149359861: 149359867
27 SLC26A2 NM_000112.3(SLC26A2): c.906_907delCT (p.Cys303Terfs) deletion Likely pathogenic rs386833509 GRCh37 Chromosome 5, 149360062: 149360063
28 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh37 Chromosome 5, 149360176: 149360178
29 SLC26A2 NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter) single nucleotide variant Likely pathogenic rs1057517523 GRCh37 Chromosome 5, 149357400: 149357400
30 SLC26A2 NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs) deletion Likely pathogenic rs1057517496 GRCh37 Chromosome 5, 149357403: 149357403
31 SLC26A2 NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs) deletion Likely pathogenic rs1057517462 GRCh37 Chromosome 5, 149357422: 149357422
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 GRCh37 Chromosome 5, 149360216: 149360216
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 GRCh37 Chromosome 5, 149360805: 149360805
45 SLC26A2 NM_000112.3(SLC26A2): c.1806_1809delAACT (p.Thr603Serfs) deletion Likely pathogenic rs1057517530 GRCh37 Chromosome 5, 149360962: 149360965
46 SLC26A2 NM_000112.3(SLC26A2): c.1955_1958delACTG (p.Asp652Alafs) deletion Likely pathogenic rs1057517474 GRCh37 Chromosome 5, 149361111: 149361114
47 SLC26A2 NM_000112.3(SLC26A2): c.1982delC (p.Thr661Lysfs) deletion Likely pathogenic rs762137330 GRCh37 Chromosome 5, 149361138: 149361138
48 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 4, show less)
id Super pathways Score Top Affiliating Genes
1 10.95 COMP IL6
2 10.78 BMP2 COL2A1 IL6
3 10.74 COL2A1 COMP
4 10.28 BMP2 COL2A1

GO Terms for Diastrophic Dysplasia

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

(showing 1, show less)
id Name GO ID Score Top Affiliating Genes
1 brush border membrane GO:0031526 8.62 SLC26A3 SLC26A4

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

(showing 19, show less)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.84 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 chloride transmembrane transport GO:1902476 9.71 SLC26A2 SLC26A3 SLC26A4 SLC26A5
3 skeletal system development GO:0001501 9.7 BMP2 COL2A1 COMP
4 sensory perception of sound GO:0007605 9.69 COL2A1 SLC26A4 SLC26A5
5 regulation of membrane potential GO:0042391 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
6 ossification GO:0001503 9.65 BMP2 COL2A1 SLC26A2
7 bicarbonate transport GO:0015701 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
8 anion transmembrane transport GO:0098656 9.61 SLC26A3 SLC26A4 SLC26A5
9 cartilage development GO:0051216 9.58 BMP2 COL2A1
10 positive regulation of osteoblast differentiation GO:0045669 9.58 BMP2 IL6
11 inner ear development GO:0048839 9.57 BMP2 COL2A1
12 chondrocyte differentiation GO:0002062 9.56 BMP2 COL2A1
13 regulation of intracellular pH GO:0051453 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
14 cellular response to BMP stimulus GO:0071773 9.55 BMP2 COL2A1
15 response to auditory stimulus GO:0010996 9.49 IL6 SLC26A5
16 proteoglycan metabolic process GO:0006029 9.46 BMP2 COL2A1
17 sulfate transport GO:0008272 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
18 sulfate transmembrane transport GO:1902358 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
19 oxalate transport GO:0019532 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5

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

(showing 8, show less)
id Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 anion:anion antiporter activity GO:0015301 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
3 bicarbonate transmembrane transporter activity GO:0015106 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
4 sulfate transmembrane transporter activity GO:0015116 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
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 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
8 oxalate transmembrane transporter activity GO:0019531 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5

Sources for Diastrophic Dysplasia

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