DTD
MCID: DST005
MIFTS: 57

Diastrophic Dysplasia (DTD)

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

Aliases & Classifications for Diastrophic Dysplasia

MalaCards integrated aliases for Diastrophic Dysplasia:

Name: Diastrophic Dysplasia 57 12 73 25 20 43 58 72 36 29 13 54 6 44 15 70
Diastrophic Dwarfism 25 20 43 58 72
Dtd 57 20 43 72
Dd 57 20 72
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 57 6
Diastrophic Dysplasia Variant 39
Dysplasia, Diastrophic 39

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
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:

25
Penetrance For pathogenic variants in slc26a2, penetrance is complete.

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Diastrophic Dysplasia

MedlinePlus Genetics : 43 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.The signs and symptoms of diastrophic dysplasia are similar to those of another skeletal disorder called atelosteogenesis type 2; however, diastrophic dysplasia tends to be less severe. Although some affected infants have breathing problems, most people with diastrophic dysplasia live into adulthood.

MalaCards based summary : Diastrophic Dysplasia, also known as diastrophic dwarfism, is related to skeletal dysplasias and spondylolysis. An important gene associated with Diastrophic Dysplasia is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Phospholipase-C Pathway. Affiliated tissues include bone, spinal cord and colon, and related phenotypes are macrocephaly and scoliosis

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.

GARD : 20 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.

KEGG : 36 Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. DTD is especially prevalent in Finland.

UniProtKB/Swiss-Prot : 72 Diastrophic dysplasia: An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities.

Wikipedia : 73 Diastrophic dysplasia is an autosomal recessive dysplasia which affects cartilage and bone development.... more...

More information from OMIM: 222600
GeneReviews: NBK1350

Related Diseases for Diastrophic Dysplasia

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

(show top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 30.4 SLC26A2 MATN3 COMP COL2A1
2 spondylolysis 30.4 SLC26A2 BMP2
3 clubfoot 30.2 SLC26A2 COL9A1 COL2A1
4 otosclerosis 30.1 SLC26A4 SLC26A2 MATN3 BMP2
5 cleft palate, isolated 30.1 COL9A2 COL9A1 COL2A1 BMP2
6 achondrogenesis, type ib 30.0 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
7 spondylolisthesis 30.0 COL9A3 BMP2
8 bone disease 29.7 MATN3 COMP COL2A1 BMP2
9 osteoarthritis 29.7 MATN3 COMP COL9A1 COL2A1
10 epiphyseal dysplasia, multiple, 4 29.7 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
11 spinal stenosis 29.7 COL9A3 COL9A2 COL9A1 COL2A1
12 myopia 29.5 COL9A2 COL9A1 COL2A1 BMP2
13 multiple epiphyseal dysplasia 29.4 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
14 atelosteogenesis 29.4 SLC26A8 SLC26A2 SLC26A11 COL9A3 COL9A2 COL9A1
15 achondrogenesis 29.3 SLC26A8 SLC26A2 MATN3 COMP COL9A3 COL9A2
16 spondyloepiphyseal dysplasia with congenital joint dislocations 29.3 SLC26A2 COMP COL9A3 COL9A2 COL9A1 COL2A1
17 spondyloepiphyseal dysplasia congenita 29.0 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
18 odontochondrodysplasia 28.9 SLC26A2 SLC26A1 MATN3 FN1 COMP COL9A3
19 pseudoachondroplasia 28.8 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
20 atelosteogenesis, type ii 11.2
21 pseudodiastrophic dysplasia 11.1
22 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.1
23 multiple epiphyseal dysplasia, recessive 10.5
24 scoliosis 10.4
25 3mc syndrome 2 10.4
26 3mc syndrome 10.4
27 congenital chloride diarrhea 10.3 SLC26A3 SLC26A2
28 achondrogenesis, type ia 10.3 SLC26A2 COL2A1
29 spondylometaphyseal dysplasia, corner fracture type 10.3 FN1 COL2A1
30 dyssegmental dysplasia, silverman-handmaker type 10.3 COL2A1 BMP2
31 vitreous detachment 10.3 FN1 COL2A1
32 platyspondylic lethal skeletal dysplasia, torrance type 10.3 COMP COL2A1
33 deafness, autosomal dominant 56 10.3 SLC26A4 FN1
34 gingival recession 10.3 FN1 BMP2
35 retinal perforation 10.3 FN1 COL2A1
36 autosomal recessive disease 10.2
37 dwarfism 10.2
38 tympanosclerosis 10.2 COL2A1 BMP2
39 stickler syndrome, type i 10.2 COL9A2 COL2A1
40 deafness, autosomal recessive 61 10.2 SLC26A5 SLC26A4
41 rhinosporidiosis 10.2 FN1 BMP2
42 patella, chondromalacia of 10.2 COMP COL2A1
43 vitreoretinal degeneration 10.2 COL9A2 COL2A1
44 synovial chondromatosis 10.2 FN1 COL2A1 BMP2
45 parasitic ichthyosporea infectious disease 10.2 FN1 BMP2
46 exostosis 10.2 FN1 COL2A1 BMP2
47 scheuermann disease 10.2 COL9A3 COL2A1
48 cartilage disease 10.2 COMP COL2A1 BMP2
49 quadriplegia 10.2
50 dysostosis 10.2

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



Diseases related to Diastrophic Dysplasia

Symptoms & Phenotypes for Diastrophic Dysplasia

Human phenotypes related to Diastrophic Dysplasia:

58 31 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
5 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
6 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
7 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
8 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
9 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
10 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
11 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
12 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
13 hypoplastic cervical vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0008434
14 neonatal short-limb short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0008921
15 short finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009381
16 proximal placement of thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009623
17 large earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0009748
18 symphalangism affecting the phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0009773
19 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
20 abnormal clavicle morphology 31 hallmark (90%) HP:0000889
21 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
22 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
23 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
24 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
25 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
26 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
27 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
28 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
29 overfolded helix 58 31 frequent (33%) Frequent (79-30%) HP:0000396
30 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
31 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
32 ulnar deviation of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009465
33 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
34 hypotonia 31 frequent (33%) HP:0001252
35 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
36 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
37 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
38 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
39 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
40 elbow dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003042
41 hyperextensible skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000974
42 visceral angiomatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100761
43 muscular hypotonia 58 Frequent (79-30%)
44 talipes equinovarus 31 HP:0001762
45 kyphoscoliosis 31 HP:0002751
46 joint dislocation 58 Frequent (79-30%)
47 hoarse voice 31 HP:0001609
48 hip contracture 31 HP:0003273
49 abnormality of the clavicle 58 Very frequent (99-80%)
50 disproportionate short-limb short stature 31 HP:0008873

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft palate

Skeletal Spine:
kyphoscoliosis
hypoplastic cervical vertebrae
cervical kyphosis

Respiratory:
laryngotracheal stenosis

Chest:
costal cartilage calcification

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

Growth Other:
short-limb dwarfism identifiable at birth

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

Voice:
characteristic hoarse voice

Skeletal Feet:
talipes equinovarus

Neurologic Central Nervous System:
spinal cord compression
normal intelligence

Skeletal Hands:
hitchhiker thumb
short finger with ulnar deviation

Skin Nails Hair Skin:
glabellar hemangioma

Head And Neck Head:
normocephaly

Skeletal Pelvis:
hip contractures

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

Clinical features from OMIM®:

222600 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Diastrophic Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 BMP2 COL2A1 COL9A1 COMP FN1 MATN3
2 hearing/vestibular/ear MP:0005377 9.7 BMP2 COL2A1 COL9A1 COL9A2 COL9A3 SLC26A4
3 limbs/digits/tail MP:0005371 9.56 BMP2 COL2A1 COL9A1 COL9A2 COMP FN1
4 skeleton MP:0005390 9.28 BMP2 COL2A1 COL9A1 COL9A2 COMP FN1

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:

40
Bone, Spinal Cord, Colon, Testis, Cortex, Kidney, Lung

Publications for Diastrophic Dysplasia

Articles related to Diastrophic Dysplasia:

(show top 50) (show all 315)
# Title Authors PMID Year
1
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 57 6 25 54 61
18708426 2008
2
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 57 25 54 6 61
18925670 2008
3
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. 61 57 6 25
7923357 1994
4
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. 54 61 6 57
15316973 2004
5
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 6 54 61 57
10482955 1999
6
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. 54 61 57 6
10466420 1999
7
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 61 25 54 6
16642506 2006
8
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. 54 25 57 61
15703192 2005
9
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 6 25 54 61
11241838 2001
10
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. 54 6 25 61
9342225 1997
11
Diastrophic dysplasia: extreme variability within a sibship. 61 6 57
8723083 1996
12
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 61 25 6
21155763 2011
13
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 6 25 61
21077204 2010
14
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 6 25 61
21077202 2010
15
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 61 25 6
15294877 2004
16
How many phenotypes in the DTDST family chondrodysplasias? 6 57
12220459 2002
17
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 61 6 25
11448940 2001
18
Growth in diastrophic dysplasia. 61 57 25
9108864 1997
19
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 6 25 61
8528239 1996
20
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 6 54 61
12966518 2003
21
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 54 6 61
11565064 2001
22
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 54 6 61
10465113 1999
23
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 61 54 6
8571951 1996
24
[Diastrophic nanism]. 25 57
13758600 1960
25
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED). 61 6
24598000 2015
26
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. 6 61
23840040 2013
27
Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 6 61
20219950 2010
28
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. 25 54 61
18553123 2008
29
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias. 61 54 25
14692227 2003
30
Diastrophic dwarfism and pregnancy. 61 57
11734236 2001
31
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. 54 25 61
11570921 2001
32
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production. 25 54 61
9822202 1998
33
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 6 61
9637425 1998
34
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. 61 54 25
9575183 1998
35
Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity. 61 57
9602486 1998
36
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. 6 61
8931695 1996
37
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter. 54 61 25
8702490 1996
38
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. 25 61 54
8723100 1996
39
Abnormality of type IX collagen in a patient with diastrophic dysplasia. 61 57
8160734 1994
40
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. 57 61
8487268 1993
41
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. 57 61
1345170 1992
42
A linkage map spanning the locus for diastrophic dysplasia (DTD). 57 61
1783404 1991
43
Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. 57 61
1978318 1990
44
Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia. 57 61
2732992 1989
45
Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound. 61 57
3065771 1988
46
Metacarpophalangeal pattern profile analysis in diastrophic dysplasia. 61 57
3425635 1987
47
Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks. 61 57
3300333 1987
48
Lethal and non-lethal diastrophic dysplasia. A study of 14 Swedish cases. 61 57
4064368 1985
49
A pair of siblings with diastrophic dysplasia and E trisomy mosaicism. 61 57
6479995 1984
50
The phenotypic variability of diastrophic dysplasia. 61 6
702237 1978

Variations for Diastrophic Dysplasia

ClinVar genetic disease variations for Diastrophic Dysplasia:

6 (show top 50) (show all 269)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC26A2 NM_000112.3(SLC26A2):c.1361A>C (p.Gln454Pro) SNV Pathogenic 4096 rs104893921 GRCh37: 5:149360517-149360517
GRCh38: 5:149980954-149980954
2 SLC26A2 NM_000112.3(SLC26A2):c.1535C>A (p.Thr512Lys) SNV Pathogenic 4099 rs121908078 GRCh37: 5:149360691-149360691
GRCh38: 5:149981128-149981128
3 SLC26A2 NM_000112.3(SLC26A2):c.398C>T (p.Ala133Val) SNV Pathogenic 4100 rs267607055 GRCh37: 5:149357613-149357613
GRCh38: 5:149978050-149978050
4 SLC26A2 NM_000112.3(SLC26A2):c.1273A>G (p.Asn425Asp) SNV Pathogenic 4093 rs104893920 GRCh37: 5:149360429-149360429
GRCh38: 5:149980866-149980866
5 SLC26A2 NM_000112.3(SLC26A2):c.1361A>C (p.Gln454Pro) SNV Pathogenic 4096 rs104893921 GRCh37: 5:149360517-149360517
GRCh38: 5:149980954-149980954
6 SLC26A2 NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) SNV Pathogenic 4094 rs104893916 GRCh37: 5:149361189-149361189
GRCh38: 5:149981626-149981626
7 SLC26A2 NM_000112.3(SLC26A2):c.699+2T>C SNV Pathogenic 371684 rs1057517461 GRCh37: 5:149357916-149357916
GRCh38: 5:149978353-149978353
8 SLC26A2 NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) SNV Pathogenic 4091 rs104893918 GRCh37: 5:149361300-149361300
GRCh38: 5:149981737-149981737
9 SLC26A2 NM_000112.3(SLC26A2):c.697C>T (p.Gln233Ter) SNV Pathogenic 655153 rs1429562386 GRCh37: 5:149357912-149357912
GRCh38: 5:149978349-149978349
10 SLC26A2 NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) Duplication Pathogenic 656557 rs769859976 GRCh37: 5:149357646-149357647
GRCh38: 5:149978083-149978084
11 SLC26A2 NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter) SNV Pathogenic 835924 GRCh37: 5:149360499-149360499
GRCh38: 5:149980936-149980936
12 SLC26A2 NM_000112.4(SLC26A2):c.1432del (p.Leu478fs) Deletion Pathogenic 856738 GRCh37: 5:149360586-149360586
GRCh38: 5:149981023-149981023
13 SLC26A2 NM_000112.4(SLC26A2):c.819del (p.Leu275fs) Deletion Pathogenic 935588 GRCh37: 5:149359974-149359974
GRCh38: 5:149980411-149980411
14 SLC26A2 NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) SNV Pathogenic 942484 GRCh37: 5:149360933-149360933
GRCh38: 5:149981370-149981370
15 SLC26A2 NM_000112.3(SLC26A2):c.438del (p.Phe146fs) Deletion Pathogenic 557601 rs769859976 GRCh37: 5:149357647-149357647
GRCh38: 5:149978084-149978084
16 SLC26A2 NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) SNV Pathogenic 371786 rs1057517532 GRCh37: 5:149360216-149360216
GRCh38: 5:149980653-149980653
17 SLC26A2 NM_000112.4(SLC26A2):c.1421del (p.Leu474fs) Deletion Pathogenic 960730 GRCh37: 5:149360575-149360575
GRCh38: 5:149981012-149981012
18 SLC26A2 NM_000112.4(SLC26A2):c.138dup (p.Gln47fs) Duplication Pathogenic 964035 GRCh37: 5:149357352-149357353
GRCh38: 5:149977789-149977790
19 SLC26A2 NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs) Indel Pathogenic 967713 GRCh37: 5:149360781-149360806
GRCh38: 5:149981218-149981243
20 SLC26A2 NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs) Deletion Pathogenic 971526 GRCh37: 5:149357226-149357230
GRCh38: 5:149977663-149977667
21 SLC26A2 NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter) SNV Pathogenic 495551 rs766836061 GRCh37: 5:149360863-149360863
GRCh38: 5:149981300-149981300
22 SLC26A2 NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) Deletion Pathogenic 4087 rs386833498 GRCh37: 5:149360879-149360879
GRCh38: 5:149981316-149981316
23 SLC26A2 NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) Microsatellite Pathogenic 371777 rs763198695 GRCh37: 5:149357698-149357699
GRCh38: 5:149978135-149978136
24 SLC26A2 NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) Microsatellite Pathogenic 65558 rs121908077 GRCh37: 5:149360166-149360168
GRCh38: 5:149980603-149980605
25 SLC26A2 NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) SNV Pathogenic 4089 rs104893915 GRCh37: 5:149359991-149359991
GRCh38: 5:149980428-149980428
26 SLC26A2 NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) SNV Pathogenic 4092 rs104893919 GRCh37: 5:149357747-149357747
GRCh38: 5:149978184-149978184
27 SLC26A2 NM_000112.3(SLC26A2):c.-26+2T>C SNV Pathogenic 4097 rs386833492 GRCh37: 5:149340544-149340544
GRCh38: 5:149960981-149960981
28 SLC26A2 NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) SNV Pathogenic 4098 rs104893924 GRCh37: 5:149361113-149361113
GRCh38: 5:149981550-149981550
29 SLC26A2 NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) SNV Pathogenic 4089 rs104893915 GRCh37: 5:149359991-149359991
GRCh38: 5:149980428-149980428
30 SLC26A2 NM_000112.3(SLC26A2):c.-26+2T>C SNV Pathogenic 4097 rs386833492 GRCh37: 5:149340544-149340544
GRCh38: 5:149960981-149960981
31 SLC26A2 NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) SNV Pathogenic 4092 rs104893919 GRCh37: 5:149357747-149357747
GRCh38: 5:149978184-149978184
32 SLC26A2 NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) Deletion Pathogenic/Likely pathogenic 4087 rs386833498 GRCh37: 5:149360879-149360879
GRCh38: 5:149981316-149981316
33 SLC26A2 NM_000112.3(SLC26A2):c.55G>T (p.Gly19Ter) SNV Likely pathogenic 56026 rs386833507 GRCh37: 5:149357270-149357270
GRCh38: 5:149977707-149977707
34 SLC26A2 NM_000112.3(SLC26A2):c.700-1G>C SNV Likely pathogenic 56027 rs200963884 GRCh37: 5:149359855-149359855
GRCh38: 5:149980292-149980292
35 SLC26A2 NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) Microsatellite Likely pathogenic 371777 rs763198695 GRCh37: 5:149357698-149357699
GRCh38: 5:149978135-149978136
36 SLC26A2 NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) Microsatellite Likely pathogenic 65558 rs121908077 GRCh37: 5:149360166-149360168
GRCh38: 5:149980603-149980605
37 SLC26A2 NM_000112.4(SLC26A2):c.1950del (p.Ile651fs) Deletion Likely pathogenic 962984 GRCh37: 5:149361106-149361106
GRCh38: 5:149981543-149981543
38 SLC26A2 NM_000112.4(SLC26A2):c.1878del (p.Thr627fs) Deletion Likely pathogenic 951956 GRCh37: 5:149361034-149361034
GRCh38: 5:149981471-149981471
39 SLC26A2 NM_000112.4(SLC26A2):c.2015_2016GA[1] (p.Asp673fs) Microsatellite Likely pathogenic 841272 GRCh37: 5:149361170-149361171
GRCh38: 5:149981607-149981608
40 SLC26A2 NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) Deletion Likely pathogenic 56016 rs386833497 GRCh37: 5:149360806-149360806
GRCh38: 5:149981243-149981243
41 SLC26A2 NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) Deletion Likely pathogenic 56016 rs386833497 GRCh37: 5:149360806-149360806
GRCh38: 5:149981243-149981243
42 SLC26A2 NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) SNV Likely pathogenic 4098 rs104893924 GRCh37: 5:149361113-149361113
GRCh38: 5:149981550-149981550
43 SLC26A2 NM_000112.3(SLC26A2):c.1955_1958del (p.Asp652fs) Deletion Likely pathogenic 371708 rs1057517474 GRCh37: 5:149361109-149361112
GRCh38: 5:149981546-149981549
44 SLC26A2 NM_000112.3(SLC26A2):c.541C>T (p.Gln181Ter) SNV Likely pathogenic 371719 rs1057517483 GRCh37: 5:149357756-149357756
GRCh38: 5:149978193-149978193
45 SLC26A2 NM_000112.3(SLC26A2):c.239_243dup (p.Pro82fs) Duplication Likely pathogenic 371749 rs1057517504 GRCh37: 5:149357449-149357450
GRCh38: 5:149977886-149977887
46 SLC26A2 NM_000112.3(SLC26A2):c.207del (p.Phe69fs) Deletion Likely pathogenic 371687 rs1057517462 GRCh37: 5:149357420-149357420
GRCh38: 5:149977857-149977857
47 SLC26A2 NM_000112.3(SLC26A2):c.746C>G (p.Ser249Ter) SNV Likely pathogenic 371761 rs1057517514 GRCh37: 5:149359902-149359902
GRCh38: 5:149980339-149980339
48 SLC26A2 NM_000112.3(SLC26A2):c.1649del (p.Lys550fs) Deletion Likely pathogenic 371717 rs1057517482 GRCh37: 5:149360803-149360803
GRCh38: 5:149981240-149981240
49 SLC26A2 NM_000112.3(SLC26A2):c.1537_1541dup (p.Ile514fs) Duplication Likely pathogenic 371758 rs1057517511 GRCh37: 5:149360692-149360693
GRCh38: 5:149981129-149981130
50 SLC26A2 NM_000112.3(SLC26A2):c.185C>G (p.Ser62Ter) SNV Likely pathogenic 371772 rs1057517523 GRCh37: 5:149357400-149357400
GRCh38: 5:149977837-149977837

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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 SLC26A6 SLC26A4 SLC26A3 SLC26A2 SLC26A11 SLC26A1
2
Show member pathways
12.85 FN1 COL9A3 COL9A2 COL9A1 COL2A1 BMP2
3
Show member pathways
12.77 FN1 COMP COL9A3 COL9A2 COL9A1 COL2A1
4
Show member pathways
12.61 FN1 COMP COL9A3 COL9A2 COL9A1 COL2A1
5
Show member pathways
11.88 MATN3 FN1 COMP COL9A3 COL9A2 COL9A1
6
Show member pathways
11.83 FN1 COMP COL9A3 COL9A2 COL9A1 COL2A1
7 11.65 FN1 COL2A1 BMP2
8 11.18 COL9A3 COL9A2 COL9A1
9 11.14 FN1 COMP COL2A1
10 11.11 MATN3 COMP COL9A3 COL9A2 COL9A1
11 10.76 FN1 COL2A1 BMP2
12 10.7 FN1 COL9A3 COL9A2 COL9A1 COL2A1 BMP2

GO Terms for Diastrophic Dysplasia

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.08 MATN3 FN1 COMP COL9A3 COL9A2 COL9A1
2 extracellular space GO:0005615 10.04 FN1 COMP COL9A3 COL9A2 COL9A1 COL2A1
3 integral component of plasma membrane GO:0005887 10.01 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A2
4 apical plasma membrane GO:0016324 9.83 SLC26A6 SLC26A4 SLC26A3 SLC26A2 FN1
5 endoplasmic reticulum lumen GO:0005788 9.73 MATN3 FN1 COL9A3 COL9A2 COL9A1 COL2A1
6 collagen-containing extracellular matrix GO:0062023 9.7 MATN3 FN1 COMP COL9A3 COL9A2 COL9A1
7 basement membrane GO:0005604 9.67 FN1 COL9A3 COL9A1 COL2A1
8 brush border membrane GO:0031526 9.63 SLC26A6 SLC26A4 SLC26A3
9 collagen trimer GO:0005581 9.62 COL9A3 COL9A2 COL9A1 COL2A1
10 sperm midpiece GO:0097225 9.51 SLC26A6 SLC26A3
11 extracellular matrix GO:0031012 9.17 MATN3 FN1 COMP COL9A3 COL9A2 COL9A1
12 collagen type IX trimer GO:0005594 9.13 COL9A3 COL9A2 COL9A1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.03 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A2
2 ion transport GO:0006811 10.02 SLC26A8 SLC26A6 SLC26A4 SLC26A3 SLC26A2 SLC26A11
3 extracellular matrix organization GO:0030198 9.95 MATN3 FN1 COMP COL9A3 COL9A2 COL9A1
4 chloride transmembrane transport GO:1902476 9.91 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A2
5 anion transmembrane transport GO:0098656 9.87 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A11
6 skeletal system development GO:0001501 9.85 MATN3 COMP COL9A2 COL2A1 BMP2
7 ossification GO:0001503 9.84 SLC26A2 COMP COL2A1 BMP2
8 chloride transport GO:0006821 9.81 SLC26A8 SLC26A6 SLC26A3 SLC26A1
9 cartilage development GO:0051216 9.8 MATN3 COMP COL2A1 BMP2
10 bicarbonate transport GO:0015701 9.8 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A2
11 animal organ morphogenesis GO:0009887 9.77 COMP COL9A1 BMP2
12 sensory perception of sound GO:0007605 9.76 SLC26A5 SLC26A4 COL2A1
13 anion transport GO:0006820 9.72 SLC26A8 SLC26A6 SLC26A3
14 sperm capacitation GO:0048240 9.7 SLC26A8 SLC26A6 SLC26A3
15 oxalate transport GO:0019532 9.7 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A2
16 proteoglycan metabolic process GO:0006029 9.58 COL2A1 BMP2
17 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process GO:0050428 9.57 SLC26A2 SLC26A1
18 intracellular pH elevation GO:0051454 9.56 SLC26A6 SLC26A3
19 sulfate transmembrane transport GO:1902358 9.56 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A2
20 sulfate transport GO:0008272 9.23 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.95 MATN3 FN1 COMP COL9A3 COL9A2 COL9A1
2 oxalate transmembrane transporter activity GO:0019531 9.91 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A2
3 chloride transmembrane transporter activity GO:0015108 9.87 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A2
4 bicarbonate transmembrane transporter activity GO:0015106 9.8 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A2
5 anion:anion antiporter activity GO:0015301 9.76 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A2
6 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.73 COL9A3 COL9A2 COL9A1 COL2A1
7 antiporter activity GO:0015297 9.67 SLC26A6 SLC26A3 SLC26A1
8 proteoglycan binding GO:0043394 9.65 FN1 COMP COL2A1
9 anion transmembrane transporter activity GO:0008509 9.63 SLC26A8 SLC26A6 SLC26A11
10 sulfate transmembrane transporter activity GO:0015116 9.56 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A2
11 secondary active sulfate transmembrane transporter activity GO:0008271 9.23 SLC26A8 SLC26A6 SLC26A5 SLC26A4 SLC26A3 SLC26A2

Sources for Diastrophic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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