DD
MCID: DST005
MIFTS: 62

Diastrophic Dysplasia (DD) malady

Bone diseases, Fetal diseases categories

Summaries for Diastrophic Dysplasia

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 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.

MalaCards: Diastrophic Dysplasia, also known as diastrophic dwarfism, is related to dwarfism and atelosteogenesis, and has symptoms including hypotonia, repeat respiratory infections and respiratory distress/dyspnea/respiratory failure/lung volume reduction. An important gene associated with Diastrophic Dysplasia is SLC26A2 (solute carrier family 26 (anion exchanger), member 2), and among its related pathways are Non-integrin membrane-ECM interactions and Mineral absorption. The compounds procollagen and pentosidine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and skin, and related mouse phenotypes are limbs/digits/tail and renal/urinary system.

Disease Ontology:8 An osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the slc26a2 gene which results in short limb dwarfism.

Wikipedia:63 Diastrophic dysplasia (DTD) is an autosomal recessivedysplasia which affects cartilage and bone... more...

Description from OMIM:46 222600

GeneReviews summary for diastrophic-d

Aliases & Classifications for Diastrophic Dysplasia

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
diastrophic dysplasia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

diastrophic dysplasia 8 9 19 42 20 22 21 46 10 44 48 60
diastrophic dwarfism 19 42 21 48
dtd 42 21
dd 42


External Ids:

Disease Ontology8 DOID:14687
MeSH34 C536170
OMIM46 222600
SNOMED-CT56 58561002
ICD10 via Orphanet26 Q77.5
SNOMED-CT via Orphanet57 58561002

Related Diseases for Diastrophic Dysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Diastrophic Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1dwarfism30.7COL2A1, COMP
2atelosteogenesis30.6SLC26A2, SLC26A5
3achondrogenesis30.3SLC26A2, SLC26A5
4multiple epiphyseal dysplasia30.3SLC26A2, MATN3, COL9A3, COL9A2, COMP
5pseudoachondroplasia30.3COMP, COL9A2, COL9A3, MATN3, SLC26A2
6cleft palate30.1BMP2, COL2A1
7osteoarthritis29.8COMP, COL2A1, COL9A2, COL9A3, BMP2, MATN3
8cervicitis10.4
9coronary artery disease10.3
10hypertension10.3
11otosclerosis10.2
12multiple epiphyseal dysplasia, recessive10.2
13diastrophic dysplasia, broad bone-platyspondylic variant10.2
14diabetic nephropathy10.2
15denys-drash syndrome10.2
16myocardial infarction10.2
17leprosy10.1
18spondyloepiphyseal dysplasia congenita10.1
19achondrogenesis type ib10.1
20dilated cardiomyopathy10.1
21obesity10.1
22atelosteogenesis type 210.1
23clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly10.1
24lepromatous leprosy10.0
25end stage renal failure10.0
26coronary restenosis10.0
27acute myocardial infarction10.0
28diabetes mellitus10.0
29sarcoidosis10.0
30infantile parkinsonism-dystonia10.0
31renal tubular acidosis10.0SLC26A4
32avascular necrosis of the femoral head10.0COL2A1
33brachydactyly10.0COMP, COL2A1
34relapsing polychondritis10.0COL2A1, COMP
35osteonecrosis10.0BMP2
36osteochondritis dissecans10.0COL9A2, COL9A3
37short stature10.0MATN3, COL2A1, COMP
38stickler syndrome10.0COL9A2, COL2A1
39skeletal dysplasias10.0COMP, COL2A1, SLC26A2
40osteochondrodysplasia10.0PAPSS2, SLC26A2, COMP
41pendred syndrome10.0SLC26A3, SLC26A5, SLC26A4, SLC26A2
42metaphyseal dysplasia10.0COL2A1
43arthropathy10.0BMP2, COL2A1, COMP
44spondyloepimetaphyseal dysplasia10.0PAPSS2, MATN3, COMP
45campomelic dysplasia10.0COL9A2, COL2A1
46degenerative disc disease10.0COL9A3, COL9A2
47sensorineural hearing loss10.0SLC26A4, COL2A1
48lumbar disc disease10.0BMP2, COL9A3, COL9A2
49cystic fibrosis10.0SLC26A6, SLC26A3
50primary hyperoxaluria10.0SLC13A1, SLC26A6, SLC26A1

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



Diseases related to diastrophic dysplasia

Clinical Features for Diastrophic Dysplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

222600

Clinical synopsis from OMIM:

222600

Symptoms:

48 (show all 45)
  • hypotonia
  • repeat respiratory infections
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • ulnar deviation of fingers
  • camptodactyly of fingers
  • kyphosis
  • folded helix
  • low set ears/posteriorly rotated ears
  • restricted joint mobility/joint stiffness/ankylosis
  • joint dislocation/subluxation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • elbow dislocation
  • hyperextensible joints/articular hyperlaxity
  • intracranial/cerebral calcifications
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • visceral angiomatosis (excluding skin)
  • hyperelastic skin/cutaneous hyperlaxity
  • hearing loss/hypoacusia/deafness
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • cleft lip and palate
  • blue sclerae
  • short hand/brachydactyly
  • rhizomelic micromelia
  • short limbs/micromelia/brachymelia
  • abnormal vertebral size/shape
  • scoliosis
  • rib structure anomalies
  • clavicle absent/abnormal
  • thick/wide ear lobe
  • depressed nasal bridge
  • depressed premaxillary region/midface
  • metacarpal anomalies/archibald's sign
  • symphalangy of fingers
  • hypertelorism
  • broad cheeks/cherub-like/cherubin face
  • intrauterine growth retardation
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • bowed diaphysis/diaphyses/long bones
  • epiphyseal anomaly
  • metaphyseal anomaly
  • osteosclerosis/osteopetrosis/bone condensation
  • proximally set thumb
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Diastrophic Dysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Diastrophic Dysplasia

Drug clinical trials:

Search ClinicalTrials for Diastrophic Dysplasia

Search NIH Clinical Center for Diastrophic Dysplasia

Search CenterWatch for Diastrophic Dysplasia

Genetic Tests for Diastrophic Dysplasia

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20GeneTests, 22GTR
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Genetic tests related to Diastrophic Dysplasia:

id Genetic test Affiliating Genes
1 Diastrophic Dysplasia20 22 SLC26A2

Anatomical Context for Diastrophic Dysplasia

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32MalaCards
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MalaCards organs/tissues related to Diastrophic Dysplasia:

32
Bone, Testes, Skin, Lung

Animal Models for Diastrophic Dysplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Diastrophic Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0PAPSS2, COMP, COL2A1, BMP2, MATN3, SLC13A1
2MP:00053678.9COL2A1, SLC13A1, SLC13A2, SLC26A4, SLC26A6, SLC26A1
3MP:00053818.9COL2A1, BMP2, SLC26A9, SLC26A3, SLC26A6, SLC26A1
4MP:00053908.8COMP, COL2A1, BMP2, MATN3, SLC13A1, SLC26A4
5MP:00053788.6COL2A1, BMP2, MATN3, SLC13A1, SLC26A3, SLC26A5

Publications for Diastrophic Dysplasia

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50PubMed
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Articles related to Diastrophic Dysplasia:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
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
2
Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland. (23389768)
2013
3
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. (21155763)
2011
4
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. (21077202)
2010
5
Diastrophic dysplasia in a seven-year-old girl. Case study. (20693580)
2010
6
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. (18925670)
2008
7
Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. (16954997)
2006
8
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. (15294877)
2004
9
Early degeneration of the knee in diastrophic dysplasia: an MRI study. (14581774)
2003
10
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. (14600463)
2003
11
Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia? (12193993)
2002
12
Lung function in diastrophic dysplasia. (11921457)
2002
13
Thoracic and lumbar spine in diastrophic dysplasia: a clinical and magnetic resonance imaging analysis. (11154540)
2001
14
SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. (11457925)
2001
15
Motor milestones in children with diastrophic dysplasia. (10912597)
2000
16
Diastrophic dysplasia with severe primary kyphosis and 'monkey wrench' appearance of the femora. (11103546)
2000
17
Double-layered manubrium sterni in young children with diastrophic dysplasia. (10876826)
2000
18
Health-related quality of life in patients with diastrophic dysplasia. (10847669)
1999
19
The spine in diastrophic dysplasia. The surgical arthrodesis of thoracic and lumbar deformities in 21 patients. (10586456)
1999
20
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). (10482955)
1999
21
Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity. (9602486)
1998
22
Correlation between speech outcome and cephalometric dimensions in patients with diastrophic dysplasia. (9594377)
1998
23
Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia. (9415482)
1997
24
Cloning and characterization of the 5'-flanking region of the mouse diastrophic dysplasia sulfate transporter gene. (9325159)
1997
25
Transverse facial morphology in patients with diastrophic dysplasia. (9493075)
1997
26
Craniofacial structure in diastrophic dysplasia--a cephalometric study. (9332652)
1997
27
Phenotypic features of dentition in diastrophic dysplasia. (8872707)
1996
28
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. (8528239)
1996
29
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. (8931695)
1996
30
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. (8723100)
1996
31
Diastrophic dysplasia: extreme variability within a sibship. (8723083)
1996
32
Abnormal collagen cross-linking in the cartilage of a diastrophic dysplasia patient. (7633791)
1995
33
Histopathology of fetal diastrophic dysplasia. (7778595)
1995
34
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
35
Abnormality of type IX collagen in a patient with diastrophic dysplasia. (8160734)
1994
36
Diastrophic Dysplasia (20301524)
1993
37
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. (8487268)
1993
38
Foot deformities in diastrophic dysplasia. An analysis of 102 patients. (1587898)
1992
39
Diastrophic dysplasia: a case report. (1340866)
1992
40
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. (1345170)
1992
41
Cementless hip arthroplasty in diastrophic dysplasia. (1431918)
1992
42
Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia. (2732992)
1989
43
Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound. (3065771)
1988
44
Metacarpophalangeal pattern profile analysis in diastrophic dysplasia. (3425635)
1987
45
Cleft palate in diastrophic dysplasia. Morphology, results of treatment and complications. (3775293)
1986
46
Diastrophic dysplasia: case report. (2938081)
1985
47
Lethal and non-lethal diastrophic dysplasia. A study of 14 Swedish cases. (4064368)
1985
48
A pair of siblings with diastrophic dysplasia and E trisomy mosaicism. (6479995)
1984
49
Early prenatal detection of diastrophic dysplasia. (6622405)
1983
50
Diastrophic dysplasia: the death of a variant. (6787663)
1981

Genetic Variations for Diastrophic Dysplasia

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Expression for genes affiliated with Diastrophic Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Diastrophic Dysplasia

Search GEO for disease gene expression data for Diastrophic Dysplasia.

Pathways for genes affiliated with Diastrophic Dysplasia

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53Reactome, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Diastrophic Dysplasia according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2COL2A1, COMP
29.9SLC26A6, SLC26A3, SLC26A9
3
Hide members
9.9COL2A1, COL9A2, COL9A3
49.9COL2A1, COL9A2, COL9A3
5
Hide members
9.9COL9A3, COL9A2, COL2A1
6
Hide members
9.9SLC26A1, SLC26A2, PAPSS2
7
Hide members
9.8MATN3, COL9A3, COL9A2
8
Hide members
9.6SLC13A2, SLC13A1, SLC13A4
99.4SLC26A2, SLC26A9, SLC26A3, SLC26A4, SLC26A6, SLC26A1
10
Hide members
9.4SLC26A9, SLC26A3, SLC26A4, SLC26A6, SLC26A1, SLC26A2
11
Hide members
9.3COMP, COL2A1, COL9A2, COL9A3, BMP2, MATN3
12
Hide members
8.6SLC26A9, SLC13A4, SLC13A1, SLC26A3, SLC13A2, SLC26A4

Compounds for genes affiliated with Diastrophic Dysplasia

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44Novoseek, 24HMDB
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Compounds related to Diastrophic Dysplasia according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1procollagen4410.4COL2A1
2pentosidine4410.2COL2A1, COMP
3pyridinoline4410.2COL2A1, COMP
4oxalate4410.1SLC26A5, SLC26A4, SLC26A1, SLC26A2
5alginate4410.1BMP2, COL2A1, COMP
6iodide44 2411.1SLC26A2, SLC26A1, SLC26A4, SLC26A5
7formate4410.1SLC26A5, SLC26A4, SLC26A1, SLC26A2
8dicarboxylate4410.1SLC13A2, SLC13A1
9bicarbonate449.9SLC26A3, SLC26A5, SLC26A4, SLC26A1, SLC26A2
10chloride449.9SLC26A3, SLC26A5, SLC26A4, SLC26A1, SLC26A2
11chlorine44 2410.7SLC26A8, SLC26A4, SLC26A5, SLC26A3, SLC26A9
12glycosaminoglycan449.6BMP2, COL2A1, COMP
13vitamin d449.5COMP, COL2A1, BMP2, SLC13A1
14sodium44 2410.4SLC26A11, SLC13A4, SLC13A1, SLC13A2, SLC26A4
15cysteine449.2COMP, COL2A1, CANT1, BMP2, SLC13A2, SLC26A2
16sulfate44 249.5PAPSS2, COMP, COL2A1, SLC26A11, SLC13A4, SLC13A1

GO Terms for genes affiliated with Diastrophic Dysplasia

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16Gene Ontology
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Cellular components related to Diastrophic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IXGO:00559410.1COL9A3, COL9A2
2brush border membraneGO:03152610.0SLC26A6, SLC26A4, SLC26A3
3sperm midpieceGO:0972259.8SLC26A3, SLC26A6
4integral to membraneGO:0160218.2SLC26A11, SLC26A9, SLC13A1, SLC26A3, SLC26A5, SLC26A4
5plasma membraneGO:0058867.9SLC13A1, SLC13A4, SLC26A9, SLC26A11, SLC26A3, SLC13A2

Biological processes related to Diastrophic Dysplasia according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1intracellular pH elevationGO:05145410.4SLC26A6, SLC26A3
2sperm capacitationGO:04824010.4SLC26A6, SLC26A3
3proteoglycan metabolic processGO:00602910.2COL2A1, BMP2
4anion transportGO:00682010.2SLC26A3, SLC26A8
53-phosphoadenosine 5-phosphosulfate biosynthetic processGO:05042810.2SLC26A1, SLC26A2, PAPSS2
63-phosphoadenosine 5-phosphosulfate metabolic processGO:05042710.1SLC26A1, SLC26A2, PAPSS2
7cellular response to BMP stimulusGO:07177310.1BMP2, COL2A1
8bicarbonate transportGO:01570110.1SLC26A6, SLC26A3
9oxalate transportGO:01953210.1SLC26A8, SLC26A6, SLC26A1
10collagen catabolic processGO:03057410.1COL2A1, COL9A2, COL9A3
11extracellular matrix disassemblyGO:02261710.0COL9A3, COL9A2, COL2A1
12chloride transportGO:0068219.9SLC26A1, SLC26A6, SLC26A8, SLC26A3
13glycosaminoglycan metabolic processGO:0302039.9SLC26A1, SLC26A2, PAPSS2
14sensory perception of soundGO:0076059.9SLC26A4, SLC26A5, COL2A1
15ion transportGO:0068119.7SLC26A9, SLC26A3, SLC26A4, SLC26A6, SLC26A1, SLC26A2
16xenobiotic metabolic processGO:0068059.6PAPSS2, SLC26A2, SLC26A1
17extracellular matrix organizationGO:0301989.5MATN3, BMP2, COL9A3, COL9A2, COL2A1, COMP
18skeletal system developmentGO:0015019.5COMP, COL2A1, COL9A2, BMP2, MATN3, PAPSS2
19transmembrane transportGO:0550858.9SLC26A9, SLC13A4, SLC13A1, SLC26A3, SLC13A2, SLC26A4
20sulfate transportGO:0082728.4SLC26A2, SLC26A11, SLC26A9, SLC13A4, SLC13A1, SLC26A3

Molecular functions related to Diastrophic Dysplasia according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1bicarbonate transmembrane transporter activityGO:01510610.1SLC26A6, SLC26A3
2chloride transmembrane transporter activityGO:0151089.9SLC26A1, SLC26A6, SLC26A4, SLC26A3
3oxalate transmembrane transporter activityGO:0195319.8SLC26A8, SLC26A6, SLC26A1
4extracellular matrix structural constituent conferring tensile strengthGO:0300209.8COL9A3, COL9A2, COL2A1
5sulfate transmembrane transporter activityGO:0151169.6SLC26A4, SLC26A8, SLC26A6, SLC26A1, SLC26A2
6anion:anion antiporter activityGO:0153019.6SLC26A11, SLC26A3, SLC26A8, SLC26A6, SLC26A1
7sodium:sulfate symporter activityGO:0153829.5SLC13A1, SLC13A4
8secondary active sulfate transmembrane transporter activityGO:0082719.2SLC26A2, SLC26A11, SLC26A9, SLC26A3, SLC26A5, SLC26A4

Products for genes affiliated with Diastrophic Dysplasia

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Sources for Diastrophic Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet