EDM4
MCID: MLT031
MIFTS: 19

Multiple Epiphyseal Dysplasia, Recessive (EDM4)

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

Aliases & Classifications for Multiple Epiphyseal Dysplasia, Recessive

MalaCards integrated aliases for Multiple Epiphyseal Dysplasia, Recessive:

Name: Multiple Epiphyseal Dysplasia, Recessive 24
Epiphyseal Dysplasia, Multiple, 4 72
Edm4 24
Rmed 24

Classifications:



External Ids:

UMLS 72 C1847593

Summaries for Multiple Epiphyseal Dysplasia, Recessive

MalaCards based summary : Multiple Epiphyseal Dysplasia, Recessive, also known as epiphyseal dysplasia, multiple, 4, is related to skeletal dysplasias and cleft palate, isolated, and has symptoms including arthralgia An important gene associated with Multiple Epiphyseal Dysplasia, Recessive is SLC26A2 (Solute Carrier Family 26 Member 2). Affiliated tissues include brain, prostate and bone.

GeneReviews: NBK1306

Related Diseases for Multiple Epiphyseal Dysplasia, Recessive

Graphical network of the top 20 diseases related to Multiple Epiphyseal Dysplasia, Recessive:



Diseases related to Multiple Epiphyseal Dysplasia, Recessive

Symptoms & Phenotypes for Multiple Epiphyseal Dysplasia, Recessive

UMLS symptoms related to Multiple Epiphyseal Dysplasia, Recessive:


arthralgia

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia, Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Epidemiology of Diabetes Interventions and Complications (EDIC) Active, not recruiting NCT00360893

Search NIH Clinical Center for Multiple Epiphyseal Dysplasia, Recessive

Genetic Tests for Multiple Epiphyseal Dysplasia, Recessive

Anatomical Context for Multiple Epiphyseal Dysplasia, Recessive

MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia, Recessive:

41
Brain, Prostate, Bone, Kidney, Spinal Cord, Thyroid

Publications for Multiple Epiphyseal Dysplasia, Recessive

Articles related to Multiple Epiphyseal Dysplasia, Recessive:

(show top 50) (show all 106)
# Title Authors PMID Year
1
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 38 4
21922596 2012
2
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 38 4
21077202 2010
3
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 38 4
18708426 2008
4
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 38 4
12966518 2003
5
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 38 4
12525546 2003
6
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 38 4
11241838 2001
7
Nosology and classification of genetic skeletal disorders: 2010 revision. 4
21438135 2011
8
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. 4
18328978 2008
9
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. 4
17133256 2007
10
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. 4
15523498 2005
11
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 4
15294877 2004
12
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. 4
14994237 2004
13
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 4
11565064 2001
14
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. 4
11570921 2001
15
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. 4
11479597 2001
16
SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. 4
11457925 2001
17
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 4
11448940 2001
18
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. 4
11200990 2001
19
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. 4
11891674 2001
20
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 4
10482955 1999
21
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 4
10465113 1999
22
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. 4
10364514 1999
23
COL9A3: A third locus for multiple epiphyseal dysplasia. 4
10090888 1999
24
International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone. 4
9779805 1998
25
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. 4
9822202 1998
26
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 4
9637425 1998
27
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. 4
9575183 1998
28
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. 4
9342225 1997
29
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter. 4
8702490 1996
30
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans. 4
8702127 1996
31
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 4
8571951 1996
32
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). 4
8528240 1996
33
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 4
8528239 1996
34
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. 4
7977372 1994
35
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. 4
7923357 1994
36
The Association of Mediterranean Diet during Pregnancy with Longitudinal Body Mass Index Trajectories and Cardiometabolic Risk in Early Childhood. 38
30429079 2019
37
Antibiotic prophylaxis prior to urodynamic study in patients with traumatic spinal cord injury. Is there an indication? 38
30785698 2019
38
Agreement among Mediterranean Diet Pattern Adherence Indexes: MCC-Spain Study. 38
30813581 2019
39
Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. 38
30423444 2018
40
Impact of a Mediterranean Dietary Pattern and Its Components on Cardiovascular Risk Factors, Glucose Control, and Body Weight in People with Type 2 Diabetes: A Real-Life Study. 38
30103444 2018
41
Different Bioactive Neuropeptides are Expressed in Two Sub-Classes of GABAergic RME Nerve Ring Motorneurons in Ascaris suum. 38
29400437 2018
42
Nutrition Labelling Use and Higher Adherence to Mediterranean Diet: Results from the DiSA-UMH Study. 38
29614009 2018
43
Prospective association between adherence to the Mediterranean diet and risk of depressive symptoms in the French SU.VI.MAX cohort. 38
28283824 2018
44
Transanal Minimally Invasive Surgery (TAMIS), First in Kuwait: A Case Report. 38
29607825 2018
45
Bee or Wasp Sting. 38
29125829 2017
46
Managing Cutaneous Tuberculosis: A Case Report. 38
28759425 2017
47
Cloning, Overexpression and in vitro Antifungal Activity of Zea Mays PR10 Protein. 38
28959351 2017
48
Mediterranean dietary pattern in pregnant women and offspring risk of overweight and abdominal obesity in early childhood: the INMA birth cohort study. 38
26763767 2016
49
Does the Genetic Cause of Prader-Willi Syndrome Explain the Highly Variable Phenotype? 38
28694852 2016
50
Postpartum Aortic Bifurcation Thrombosis on the Background of Thrombophilic Disorder. 38
28694860 2016

Variations for Multiple Epiphyseal Dysplasia, Recessive

Expression for Multiple Epiphyseal Dysplasia, Recessive

Search GEO for disease gene expression data for Multiple Epiphyseal Dysplasia, Recessive.

Pathways for Multiple Epiphyseal Dysplasia, Recessive

GO Terms for Multiple Epiphyseal Dysplasia, Recessive

Sources for Multiple Epiphyseal Dysplasia, Recessive

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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