DD
MCID: DST005
MIFTS: 58

Diastrophic Dysplasia (DD) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Diastrophic Dysplasia

About this section
Sources:
9Disease Ontology, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Disease Ontology:9 An osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the slc26a2 gene which results in short limb dwarfism.

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 Focal adhesion and Degradation of the extracellular matrix. The compounds oxalate and iodide have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and skin, and related mouse phenotypes are skeleton and limbs/digits/tail.

Wikipedia:66 Diastrophic dysplasia (DTD) is an autosomal recessivedysplasia which affects cartilage and bone... more...

Description from OMIM:48 222600

GeneReviews summary for diastrophic-d

Aliases & Classifications for Diastrophic Dysplasia

About this section
Sources:
9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 59SNOMED-CT, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
diastrophic dysplasia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

diastrophic dysplasia 9 10 20 44 21 23 22 48 11 46 50 63
diastrophic dwarfism 20 44 22 50
dtd 44 22
dd 44


External Ids:

Disease Ontology9 DOID:14687
MeSH36 C536170
OMIM48 222600
SNOMED-CT59 58561002
ICD10 via Orphanet27 Q77.5
SNOMED-CT via Orphanet60 58561002
UMLS via Orphanet64 C0220726

Related Diseases for Diastrophic Dysplasia

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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
1dwarfism30.8COL2A1, COMP
2atelosteogenesis30.7SLC26A5, SLC26A2
3achondrogenesis30.5SLC26A5, SLC26A2
4multiple epiphyseal dysplasia30.4COMP, SLC26A2
5pseudoachondroplasia30.4SLC26A2, COMP
6osteoarthritis29.8COL2A1, COMP
7cervicitis10.4
8chondrodysplasia10.4
9coronary artery disease10.3
10artery disease10.3
11endotheliitis10.3
12otosclerosis10.3
13diastrophic dysplasia, broad bone-platyspondylic variant10.3
14diabetic nephropathy10.3
15hypertension10.3
16denys-drash syndrome10.2
17myocardial infarction10.2
18leprosy10.2
19cleft palate10.1
20spondyloepiphyseal dysplasia congenita10.1
21achondrogenesis type ib10.1
22dilated cardiomyopathy10.1
23obesity10.1
24atelosteogenesis type 210.1
25pseudodiastrophic dysplasia10.1
26clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly10.1
27infantile parkinsonism-dystonia10.1
28lepromatous leprosy10.1
29end stage renal failure10.1
30acute myocardial infarction10.1
31diabetes mellitus10.1
32sarcoidosis10.1
33spondyloepimetaphyseal dysplasia10.0COMP
34osteochondrodysplasia10.0SLC26A2, COMP
35osteoporosis10.0SLC26A2, COL2A1
36relapsing polychondritis10.0COL2A1, COMP
37pendred syndrome10.0SLC26A3, SLC26A5, SLC26A2
38achondroplasia10.0COMP, COL2A1
39brachydactyly10.0COMP, COL2A1
40arthropathy10.0COMP, COL2A1
41rheumatic disease10.0COMP, COL2A1
42synovitis10.0COMP, COL2A1
43short stature10.0COL2A1, COMP
44arthritis10.0COMP, COL2A1
45skeletal dysplasias9.9SLC26A2, COMP, COL2A1
46hypertrophy of breast9.9COL2A1, COMP
47acute pancreatitis9.9
48cervical dystonia9.9
49rheumatic heart disease9.9
50tuberculoid leprosy9.9

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



Diseases related to diastrophic dysplasia

Symptoms for Diastrophic Dysplasia

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

222600

Clinical features from OMIM:

222600

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Diastrophic Dysplasia:

id Genetic test Affiliating Genes
1 Diastrophic Dysplasia21 23 SLC26A2

Anatomical Context for Diastrophic Dysplasia

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Diastrophic Dysplasia:

34
Bone, Testes, Skin, Lung

Animal Models for Diastrophic Dysplasia or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Diastrophic Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.6COMP, COL2A1, SLC26A2
2MP:00053718.3COL2A1, SLC26A2, COMP
3MP:00053787.4SLC26A2, SLC26A5, SLC26A3, COMP, COL2A1

Publications for Diastrophic Dysplasia

About this section
Sources:
53PubMed
See all sources

Articles related to Diastrophic Dysplasia:

(show top 50)    (show all 99)
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
Diastrophic dysplasia: prenatal diagnosis and review of the literature. (23657516)
2013
3
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. (21077202)
2010
4
Diastrophic dysplasia in a seven-year-old girl. Case study. (20693580)
2010
5
Treatment of spinal deformities in patients with diastrophic dysplasia: a long-term, population based, retrospective outcome study. (19752701)
2009
6
Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly. (18056413)
2007
7
Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. (17602446)
2007
8
The diagnosis of art: diastrophic dysplasia and Hephaistos. (22135839)
2006
9
Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. (15308906)
2004
10
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. (15316973)
2004
11
Diastrophic dysplasia: prenatal three-dimensional ultrasound findings. (15027028)
2004
12
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. (15294877)
2004
13
Early degeneration of the knee in diastrophic dysplasia: an MRI study. (14581774)
2003
14
Total hip arthroplasty in diastrophic dysplasia. (12637429)
2003
15
Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation. (12854932)
2003
16
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. (14600463)
2003
17
Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia? (12193993)
2002
18
Lung function in diastrophic dysplasia. (11921457)
2002
19
Scoliosis in patients with diastrophic dysplasia: a new classification. (11474356)
2001
20
Manubrium sterni in patients with diastrophic dysplasia--radiological analysis of 50 patients. (11550766)
2001
21
Cervical spine in diastrophic dysplasia: an MRI analysis. (10641688)
2000
22
Cervical kyphosis in diastrophic dysplasia. (10528373)
1999
23
Health-related quality of life in patients with diastrophic dysplasia. (10847669)
1999
24
The spine in diastrophic dysplasia. The surgical arthrodesis of thoracic and lumbar deformities in 21 patients. (10586456)
1999
25
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. (10466420)
1999
26
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). (10482955)
1999
27
Development of the hip in diastrophic dysplasia. (9546468)
1998
28
Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity. (9602486)
1998
29
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. (9575183)
1998
30
Correlation between speech outcome and cephalometric dimensions in patients with diastrophic dysplasia. (9594377)
1998
31
Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia. (9415482)
1997
32
Growth in diastrophic dysplasia. (9108864)
1997
33
Cloning and characterization of the 5'-flanking region of the mouse diastrophic dysplasia sulfate transporter gene. (9325159)
1997
34
Phenotypic features of dentition in diastrophic dysplasia. (8872707)
1996
35
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. (8528239)
1996
36
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. (8931695)
1996
37
Abnormal collagen cross-linking in the cartilage of a diastrophic dysplasia patient. (7633791)
1995
38
Histopathology of fetal diastrophic dysplasia. (7778595)
1995
39
Abnormality of type IX collagen in a patient with diastrophic dysplasia. (8160734)
1994
40
Diastrophic dysplasia. (7896341)
1994
41
Diastrophic Dysplasia (20301524)
1993
42
Foot deformities in diastrophic dysplasia. An analysis of 102 patients. (1587898)
1992
43
Diastrophic dysplasia: a case report. (1340866)
1992
44
Light and electron microscopic abnormalities in diastrophic dysplasia growth cartilage. (1422977)
1992
45
Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. (1978318)
1990
46
Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia. (2732992)
1989
47
Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound. (3065771)
1988
48
Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks. (3300333)
1987
49
Abnormal pattern of segment long spacing (SLS) cartilage collagen in diastrophic dysplasia. (7105649)
1982
50
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. (6298815)
1982

Variations for Diastrophic Dysplasia

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Diastrophic Dysplasia:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1SLC26A2SLC26A2, 1-BP DEL, 1751AdeletionPathogenic/card/diastrophic_dysplasia
2SLC26A2NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp)single nucleotide variantPathogenicrs104893915GRCh37Chr 5, 149359991: 149359991
3SLC26A2NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter)single nucleotide variantPathogenicrs104893919GRCh37Chr 5, 149357747: 149357747
4SLC26A2NM_000112.3(SLC26A2): c.1273A> G (p.Asn425Asp)single nucleotide variantPathogenicrs104893920GRCh37Chr 5, 149360429: 149360429
5SLC26A2NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val)single nucleotide variantPathogenicrs104893916GRCh37Chr 5, 149361189: 149361189
6SLC26A2NM_000112.3(SLC26A2): c.1361A> C (p.Gln454Pro)single nucleotide variantPathogenicrs104893921GRCh37Chr 5, 149360517: 149360517
7SLC26A2SLC26A2, IVS1DS, T-C, +2single nucleotide variantPathogenic
8SLC26A2NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser)single nucleotide variantPathogenicrs104893924GRCh37Chr 5, 149361113: 149361113
9SLC26A2NM_000112.3(SLC26A2): c.1535C> A (p.Thr512Lys)single nucleotide variantPathogenicrs121908078GRCh37Chr 5, 149360691: 149360691
10SLC26A2NM_000112.3(SLC26A2): c.398C> T (p.Ala133Val)single nucleotide variantPathogenicrs267607055GRCh37Chr 5, 149357613: 149357613
11SLC26A2NM_000112.3(SLC26A2): c.-26+2T> Csingle nucleotide variantPathogenicrs386833492GRCh37Chr 5, 149340544: 149340544
12SLC26A2NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del)deletionPathogenicrs121908077GRCh37Chr 5, 149360176: 149360178

Expression for genes affiliated with Diastrophic Dysplasia

About this section
Sources:
2BioGPS, 16Gene 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

About this section
Sources:
51PathCards, 31KEGG, 54QIAGEN, 39NCBI BioSystems Database, 56Reactome, 55R&D Systems
See all sources

Pathways related to Diastrophic Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
9.0COL2A1, COMP
2
Show member pathways
9.0COL2A1, COMP
39.0COL2A1, COMP

Compounds for genes affiliated with Diastrophic Dysplasia

About this section
Sources:
46Novoseek, 25HMDB
See all sources

Compounds related to Diastrophic Dysplasia according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1oxalate469.8SLC26A5, SLC26A2
2iodide46 2510.7SLC26A2, SLC26A5
3formate469.7SLC26A5, SLC26A2
4Hydrogen carbonate259.7SLC26A5, SLC26A3
5chlorine46 2510.5SLC26A3, SLC26A5
6pentosidine469.3COL2A1, COMP
7bicarbonate469.3SLC26A2, SLC26A3, SLC26A5
8pyridinoline469.3COL2A1, COMP
9chloride469.3SLC26A2, SLC26A3, SLC26A5
10alginate469.2COL2A1, COMP
11procollagen469.2COMP, COL2A1
12glycosaminoglycan469.1COL2A1, COMP
13agarose469.0COL2A1, COMP
14vitamin d469.0COL2A1, COMP
15cysteine468.5COMP, COL2A1, SLC26A2
16lipid468.2SLC26A5, COL2A1, COMP
17sulfate46 258.8SLC26A5, SLC26A3, SLC26A2, COL2A1, COMP

GO Terms for genes affiliated with Diastrophic Dysplasia

About this section
Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:0076059.3SLC26A5, COL2A1
2ion transportGO:0068119.2SLC26A3, SLC26A2
3extracellular matrix organizationGO:0301989.0COL2A1, COMP
4skeletal system developmentGO:0015018.9COL2A1, COMP

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

idNameGO IDScoreTop Affiliating Genes
1secondary active sulfate transmembrane transporter activityGO:0082719.0SLC26A5, SLC26A3, SLC26A2

Products for genes affiliated with Diastrophic Dysplasia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diastrophic Dysplasia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet