DD
MCID: DST005
MIFTS: 58

Diastrophic Dysplasia (DD) malady

Bone, Fetal categories

Summaries for Diastrophic Dysplasia

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 macrocephaly/macrocrania/megalocephaly/megacephaly, hypertelorism and low set ears/posteriorly rotated ears. 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 spinal cord, lung and fetal lung, 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:64 Diastrophic dysplasia (DTD) is an autosomal recessivedysplasia which affects cartilage and bone... more...

Description from OMIM:47 222600

GeneReviews summary for diastrophic-d

Aliases & Classifications for Diastrophic Dysplasia

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 20 22 21 47 10 45 49 61
diastrophic dwarfism 19 43 21 49
dtd 43 21
dd 43


External Ids:

Disease Ontology8 DOID:14687
MeSH35 C536170
SNOMED-CT57 58561002
OMIM47 222600
ICD10 via Orphanet26 Q77.5

Related Diseases for Diastrophic Dysplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1dwarfism30.8COL2A1, COMP
2atelosteogenesis30.7SLC26A2, SLC26A5
3achondrogenesis30.4SLC26A2, SLC26A5
4multiple epiphyseal dysplasia30.4SLC26A2, MATN3, COL9A3, COL9A2, COMP
5pseudoachondroplasia30.4COMP, COL9A2, COL9A3, MATN3, SLC26A2
6cleft palate30.1BMP2, COL2A1
7osteoarthritis29.8COMP, COL2A1, COL9A2, COL9A3, BMP2, MATN3
8chondrodysplasia10.5
9diastrophic dysplasia, broad bone-platyspondylic variant10.4
10coronary artery disease,10.3
11otosclerosis10.3
12multiple epiphyseal dysplasia, recessive10.3
13diabetic nephropathy10.3
14denys-drash syndrome10.2
15spondyloepiphyseal dysplasia congenita10.1
16larsen syndrome10.1
17n syndrome10.1
18pseudodiastrophic dysplasia10.1
19clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly10.1
20lepromatous leprosy10.1
21coronary restenosis10.1
22acute myocardial infarction10.1
23renal tubular acidosis10.0SLC26A4
24avascular necrosis of the femoral head10.0COL2A1
25brachydactyly10.0COMP, COL2A1
26relapsing polychondritis10.0COL2A1, COMP
27osteonecrosis10.0BMP2
28osteochondritis dissecans10.0COL9A2, COL9A3
29short stature10.0MATN3, COL2A1, COMP
30stickler syndrome10.0COL9A2, COL2A1
31skeletal dysplasias10.0COMP, COL2A1, SLC26A2
32osteochondrodysplasia10.0PAPSS2, SLC26A2, COMP
33pendred syndrome10.0SLC26A3, SLC26A5, SLC26A4, SLC26A2
34metaphyseal dysplasia10.0COL2A1
35arthropathy10.0BMP2, COL2A1, COMP
36spondyloepimetaphyseal dysplasia10.0PAPSS2, MATN3, COMP
37campomelic dysplasia10.0COL9A2, COL2A1
38degenerative disc disease10.0COL9A3, COL9A2
39sensorineural hearing loss10.0SLC26A4, COL2A1
40lumbar disc disease10.0BMP2, COL9A3, COL9A2
41cystic fibrosis10.0SLC26A6, SLC26A3
42primary hyperoxaluria10.0SLC13A1, SLC26A6, SLC26A1
43multiple epiphyseal dysplasia, dominant10.0COMP, COL9A2, COL9A3, MATN3
44nephrolithiasis10.0SLC26A1, SLC26A6, SLC13A2, SLC13A1
45osteoporosis10.0SLC26A2, BMP2, COL2A1
46primary pulmonary hypertension9.9
47acute pancreatitis9.9
48systemic lupus erythematosus9.9
49rhinosporidiosis9.9
50tuberculoid leprosy9.9

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



Diseases related to diastrophic dysplasia

Clinical Features for Diastrophic Dysplasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

222600

Clinical synopsis from OMIM:

222600

Symptoms:

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

Drugs & Therapeutics for Diastrophic Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Diastrophic Dysplasia:

id Genetic test Affiliating Genes
1 Diastrophic Dysplasia20 22 SLC26A2

Anatomical Context for Diastrophic Dysplasia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Diastrophic Dysplasia:

33
Spinal cord, Lung, Fetal lung

Animal Models for Diastrophic Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Diastrophic Dysplasia

Sources:
51PubMed
See all sources

Articles related to Diastrophic Dysplasia:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
Diastrophic dysplasia: prenatal diagnosis and review of the literature. (23657516)
2013
2
Prevention of auricular deformity in children with diastrophic dysplasia. (21414669)
2011
3
The 3-dimensional configuration of the typical hip and knee in diastrophic dysplasia. (20502243)
2010
4
Treatment of spinal deformities in patients with diastrophic dysplasia: a long-term, population based, retrospective outcome study. (19752701)
2009
5
The 3-dimensional configuration of the typical foot and ankle in diastrophic dysplasia. (18157048)
2008
6
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
7
Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly. (18056413)
2007
8
Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. (17602446)
2007
9
The diagnosis of art: diastrophic dysplasia and Hephaistos. (17277273)
2007
10
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. (16642506)
2006
11
Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. (15308906)
2004
12
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. (15316973)
2004
13
Diastrophic dysplasia: prenatal three-dimensional ultrasound findings. (15027028)
2004
14
Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells. (15513522)
2004
15
Early degeneration of the knee in diastrophic dysplasia: an MRI study. (14581774)
2003
16
Total hip arthroplasty in diastrophic dysplasia. (12637429)
2003
17
Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation. (12854932)
2003
18
Total knee arthroplasty in patients with diastrophic dysplasia. (14630837)
2003
19
Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases. (12901408)
2003
20
Cervical spine in patients with diastrophic dysplasia--radiographic findings in 122 patients. (12195300)
2002
21
Magnetic resonance imaging analysis of hip joint development in patients with diastrophic dysplasia. (11856933)
2002
22
Scoliosis in patients with diastrophic dysplasia: a new classification. (11474356)
2001
23
Manubrium sterni in patients with diastrophic dysplasia--radiological analysis of 50 patients. (11550766)
2001
24
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. (11241838)
2001
25
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. (11448940)
2001
26
Cervical spine in diastrophic dysplasia: an MRI analysis. (10641688)
2000
27
Diastrophic dysplasia with severe primary kyphosis and 'monkey wrench' appearance of the femora. (11103546)
2000
28
Development of the hip in diastrophic dysplasia. (9546468)
1998
29
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. (9575183)
1998
30
Growth in diastrophic dysplasia. (9108864)
1997
31
Cloning of mouse diastrophic dysplasia sulfate transporter gene induced during osteoblast differentiation by bone morphogenetic protein-2. (9370300)
1997
32
Ultrasonography of the patellofemoral joint in diastrophic dysplasia. (9364394)
1997
33
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. (8528239)
1996
34
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
35
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
36
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans. (8702127)
1996
37
Diastrophic dysplasia. (7896341)
1994
38
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. (7923357)
1994
39
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. (8487268)
1993
40
Light and electron microscopic abnormalities in diastrophic dysplasia growth cartilage. (1422977)
1992
41
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. (1345170)
1992
42
A linkage map spanning the locus for diastrophic dysplasia (DTD). (1783404)
1991
43
Atlanto-axial instability in diastrophic dysplasia. A case report. (2013604)
1991
44
Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. (1978318)
1990
45
Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound. (3065771)
1988
46
Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks. (3300333)
1987
47
Abnormal pattern of segment long spacing (SLS) cartilage collagen in diastrophic dysplasia. (7105649)
1982
48
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. (6298815)
1982
49
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. (6803579)
1982
50
The phenotypic variability of diastrophic dysplasia. (702237)
1978

Genetic Variations for Diastrophic Dysplasia

Expression for genes affiliated with Diastrophic Dysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 52QIAGEN
See all sources

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

Sources:
45Novoseek, 24HMDB
See all sources

Compounds related to Diastrophic Dysplasia according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1procollagen4510.4COL2A1
2pentosidine4510.2COL2A1, COMP
3pyridinoline4510.2COL2A1, COMP
4oxalate4510.1SLC26A5, SLC26A4, SLC26A1, SLC26A2
5alginate4510.1BMP2, COL2A1, COMP
6iodide45 2411.1SLC26A2, SLC26A1, SLC26A4, SLC26A5
7formate4510.1SLC26A5, SLC26A4, SLC26A1, SLC26A2
8dicarboxylate4510.1SLC13A2, SLC13A1
9bicarbonate459.9SLC26A3, SLC26A5, SLC26A4, SLC26A1, SLC26A2
10chloride459.9SLC26A3, SLC26A5, SLC26A4, SLC26A1, SLC26A2
11chlorine45 2410.7SLC26A8, SLC26A4, SLC26A5, SLC26A3, SLC26A9
12glycosaminoglycan459.6BMP2, COL2A1, COMP
13vitamin d459.5COMP, COL2A1, BMP2, SLC13A1
14sodium45 2410.4SLC26A11, SLC13A4, SLC13A1, SLC13A2, SLC26A4
15cysteine459.2COMP, COL2A1, CANT1, BMP2, SLC13A2, SLC26A2
16sulfate45 249.5PAPSS2, COMP, COL2A1, SLC26A11, SLC13A4, SLC13A1

GO Terms for genes affiliated with Diastrophic Dysplasia

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet