EDM4
MCID: EPP014
MIFTS: 45

Epiphyseal Dysplasia, Multiple, 4 (EDM4)

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

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 4

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 4:

Name: Epiphyseal Dysplasia, Multiple, 4 57 13 44 70
Edm4 57 12 20 58 72
Multiple Epiphyseal Dysplasia 4 12 20 72 15
Multiple Epiphyseal Dysplasia with Clubfoot 57 12 20
Multiple Epiphyseal Dysplasia Type 4 58 29 6
Multiple Epiphyseal Dysplasia with Bilayered Patellae 57 20
Multiple Epiphyseal Dysplasia, Autosomal Recessive 57 20
Autosomal Recessive Multiple Epiphyseal Dysplasia 20 58
Polyepiphyseal Dysplasia Type 4 12 58
Med4 12 58
Rmed 12 58
Multiple Epiphyseal Dysplasia with Double-Layered Patella 20
Multiple Epiphyseal Dysplasia with Bilateral Patellae 12
Dysplasia, Epiphyseal, Multiple, Type 4 39
Epiphyseal Dysplasia Multiple 4 20

Characteristics:

Orphanet epidemiological data:

58
multiple epiphyseal dysplasia type 4
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity, see edm1 , edm2 , edm3 , and edm5
allelic to diastrophic dysplasia , atelosteogenesis, type ii , and achondrogenesis, type ib


HPO:

31
epiphyseal dysplasia, multiple, 4:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070300
OMIM® 57 226900
OMIM Phenotypic Series 57 PS132400
SNOMED-CT 67 715672007
MESH via Orphanet 45 C535504
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 71 C1847593
Orphanet 58 ORPHA93307
MedGen 41 C1847593
UMLS 70 C1847593

Summaries for Epiphyseal Dysplasia, Multiple, 4

UniProtKB/Swiss-Prot : 72 Multiple epiphyseal dysplasia 4: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature is not frequent.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, 4, also known as edm4, is related to multiple epiphyseal dysplasia and atelosteogenesis, and has symptoms including arthralgia An important gene associated with Epiphyseal Dysplasia, Multiple, 4 is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Focal Adhesion and Degradation of the extracellular matrix. Affiliated tissues include bone, and related phenotypes are epiphyseal dysplasia and osteoarthritis

Disease Ontology : 12 A multiple epiphyseal dysplasia that has material basis in homozygous mutation in the SLC26A2 gene on chromosome 5q32.

More information from OMIM: 226900 PS132400

Related Diseases for Epiphyseal Dysplasia, Multiple, 4

Diseases in the Multiple Epiphyseal Dysplasia family:

Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 4
Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3
Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple, 6
Epiphyseal Dysplasia, Multiple, 7 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly
Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Recessive

Diseases related to Epiphyseal Dysplasia, Multiple, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 31.6 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
2 atelosteogenesis 30.2 SLC26A2 COL9A3 COL9A2 COL9A1
3 achondrogenesis, type ib 29.8 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
4 diastrophic dysplasia 29.6 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
5 achondrogenesis 29.5 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
6 osteochondrodysplasia 29.4 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
7 multiple epiphyseal dysplasia, recessive 11.3
8 back pain 10.2 COL9A3 COL9A2
9 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.1 COL9A2 COL9A1
10 clubfoot 10.1
11 legg-calve-perthes disease 10.1 SLC26A2 MATN3
12 fibrochondrogenesis 10.1 COL9A3 COL9A2 COL9A1
13 bone deterioration disease 10.1 COL9A3 COL9A2
14 autosomal recessive stickler syndrome 10.1 COL9A3 COL9A2 COL9A1
15 vitreous syneresis 10.1 COL9A3 COL9A2 COL9A1
16 kniest dysplasia 10.1 COL9A3 COL9A2 COL9A1
17 marshall syndrome 10.1 COL9A3 COL9A2 COL9A1
18 brachydactyly 10.0
19 scoliosis 10.0
20 atelosteogenesis, type ii 10.0
21 3mc syndrome 2 10.0
22 3mc syndrome 10.0
23 spinal stenosis 10.0 COL9A3 COL9A2 COL9A1
24 retinal detachment 10.0 COL9A3 COL9A2 COL9A1
25 hypochondrogenesis 10.0 SLC26A2 MATN3 COL9A2 COL9A1
26 retinoblastoma 10.0
27 familial retinoblastoma 10.0
28 fibrochondrogenesis 1 10.0 MATN3 COL9A3 COL9A2 COL9A1
29 intervertebral disc disease 9.9 COL9A3 COL9A2
30 stickler syndrome 9.9 MATN3 COL9A3 COL9A2 COL9A1
31 cleft palate, isolated 9.9
32 epiphyseal dysplasia, multiple, 6 9.9 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
33 epiphyseal dysplasia, multiple, 3 9.9 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
34 achondrogenesis, type ii 9.8 SLC26A2 MATN3 COMP COL9A1
35 multiple epiphyseal dysplasia, autosomal dominant 9.8 MATN3 COMP COL9A3 COL9A2 COL9A1
36 osteoarthritis 9.7 MATN3 COMP COL9A1
37 spondyloepiphyseal dysplasia with congenital joint dislocations 9.7 SLC26A2 COMP COL9A3 COL9A2 COL9A1
38 spondyloepiphyseal dysplasia congenita 9.7 MATN3 COMP COL9A3 COL9A2 COL9A1
39 osteochondrosis 9.7 MATN3 COMP COL9A3 COL9A2 COL9A1
40 osteochondritis dissecans 9.7 MATN3 COMP COL9A3 COL9A2 COL9A1
41 epiphyseal dysplasia, multiple, 5 9.6 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
42 epiphyseal dysplasia, multiple, 2 9.6 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
43 epiphyseal dysplasia, multiple, 1 9.6 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
44 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.6 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
45 pseudoachondroplasia 9.6 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
46 bone development disease 9.6 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 4:



Diseases related to Epiphyseal Dysplasia, Multiple, 4

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 4

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 4:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epiphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002656
2 osteoarthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002758
3 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
4 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
5 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
6 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
7 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
8 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
9 abnormal patella morphology 58 31 frequent (33%) Frequent (79-30%) HP:0003045
10 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
11 double-layered patella 31 very rare (1%) HP:0031174
12 hip dysplasia 31 HP:0001385
13 brachydactyly 31 HP:0001156
14 short metacarpal 31 HP:0010049
15 abnormality of the knee 58 Frequent (79-30%)
16 multiple epiphyseal dysplasia 31 HP:0002654
17 flat capital femoral epiphysis 31 HP:0003370
18 limited elbow flexion 31 HP:0006376
19 hypoplasia of the femoral head 31 HP:0008802

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis

Skeletal Limbs:
arthralgia
limited elbow flexion
double layered patella
small humeral, distal radii, and ulnae epiphyses
mildly shortened ulna
more
Skeletal:
multiple epiphyseal dysplasia

Growth Height:
short stature (3rd-90th centile, infrequent finding)

Skeletal Pelvis:
hip dysplasia
small femoral heads
flattened proximal femoral epiphyses

Skeletal Hands:
brachydactyly
mild shortened metacarpals

Skeletal Feet:
clubfoot

Clinical features from OMIM®:

226900 (Updated 20-May-2021)

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 4:


arthralgia

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.32 BSX CELSR3 CEP350 COL9A2 COMP FEZ1

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 4

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 4

Cochrane evidence based reviews: epiphyseal dysplasia, multiple, 4

Genetic Tests for Epiphyseal Dysplasia, Multiple, 4

Genetic tests related to Epiphyseal Dysplasia, Multiple, 4:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia Type 4 29 SLC26A2

Anatomical Context for Epiphyseal Dysplasia, Multiple, 4

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 4:

40
Bone

Publications for Epiphyseal Dysplasia, Multiple, 4

Articles related to Epiphyseal Dysplasia, Multiple, 4:

(show all 40)
# Title Authors PMID Year
1
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 6 57 61
10465113 1999
2
Multiple SLC26A2 mutations occurring in a three-generational family. 57 6
29024831 2018
3
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 6 57
12966518 2003
4
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 57 6
12525546 2003
5
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 57 6
11565064 2001
6
Sulphate transporter gene mutations in apparently isolated club foot. 6 57
11303514 2001
7
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. 6
27065010 2016
8
Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish. 6
26375458 2015
9
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
23840040 2013
10
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. 6
21922596 2012
11
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 6
21155763 2011
12
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test. 6
22052783 2011
13
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 6
21077204 2010
14
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 6
21077202 2010
15
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. 6
20592910 2010
16
Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 6
20219950 2010
17
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. 6
20525296 2010
18
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 6
18925670 2008
19
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 6
16642506 2006
20
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 6
15294877 2004
21
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. 6
15316973 2004
22
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 6
11448940 2001
23
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 6
11241838 2001
24
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 6
10482955 1999
25
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 6
9637425 1998
26
Double-layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis. 57
9449113 1998
27
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. 6
9342225 1997
28
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. 6
8931695 1996
29
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 6
8571951 1996
30
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 6
8528239 1996
31
Genetic heterogeneity in multiple epiphyseal dysplasia. 57
7887425 1995
32
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. 6
7923357 1994
33
[Poly-epiphyseal dysplasia, probably autosomal recessive. Contribution of the ultrastructural study to the discovery of this autonomous form]. 57
170585 1975
34
Multiple epiphyseal dysplasia tarda. A family with autosomal recessive inheritance. 57
4426126 1974
35
Inheritance of multiple epiphyseal dysplasia, tarda. 57
5703690 1968
36
Multiple epiphyseal dysplasia in two siblings. Histological and biochemical analyses of epiphyseal plate cartilage in one. 57
4229795 1967
37
Multiple epiphysial dysplasia: a report of four cases. 57
14935176 1952
38
Dysplasia epiphysialis multiplex in three sisters. 57
12999879 1952
39
Multiple Epiphyseal Dysplasia, Recessive 61
20301483 2002
40
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. 61
11479597 2001

Variations for Epiphyseal Dysplasia, Multiple, 4

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 4:

6 (show top 50) (show all 286)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC26A2 NM_000112.3(SLC26A2):c.699+2T>C SNV Pathogenic 371684 rs1057517461 GRCh37: 5:149357916-149357916
GRCh38: 5:149978353-149978353
2 SLC26A2 NM_000112.3(SLC26A2):c.1565C>T (p.Ser522Phe) SNV Pathogenic 623643 rs1561822760 GRCh37: 5:149360721-149360721
GRCh38: 5:149981158-149981158
3 SLC26A2 NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) SNV Pathogenic 4091 rs104893918 GRCh37: 5:149361300-149361300
GRCh38: 5:149981737-149981737
4 SLC26A2 NM_000112.3(SLC26A2):c.697C>T (p.Gln233Ter) SNV Pathogenic 655153 rs1429562386 GRCh37: 5:149357912-149357912
GRCh38: 5:149978349-149978349
5 SLC26A2 NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) Duplication Pathogenic 656557 rs769859976 GRCh37: 5:149357646-149357647
GRCh38: 5:149978083-149978084
6 SLC26A2 NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter) SNV Pathogenic 835924 GRCh37: 5:149360499-149360499
GRCh38: 5:149980936-149980936
7 SLC26A2 NM_000112.4(SLC26A2):c.1432del (p.Leu478fs) Deletion Pathogenic 856738 GRCh37: 5:149360586-149360586
GRCh38: 5:149981023-149981023
8 SLC26A2 NM_000112.4(SLC26A2):c.819del (p.Leu275fs) Deletion Pathogenic 935588 GRCh37: 5:149359974-149359974
GRCh38: 5:149980411-149980411
9 SLC26A2 NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) SNV Pathogenic 942484 GRCh37: 5:149360933-149360933
GRCh38: 5:149981370-149981370
10 SLC26A2 NM_000112.3(SLC26A2):c.438del (p.Phe146fs) Deletion Pathogenic 557601 rs769859976 GRCh37: 5:149357647-149357647
GRCh38: 5:149978084-149978084
11 SLC26A2 NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) SNV Pathogenic 371786 rs1057517532 GRCh37: 5:149360216-149360216
GRCh38: 5:149980653-149980653
12 SLC26A2 NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs) Deletion Pathogenic 971526 GRCh37: 5:149357226-149357230
GRCh38: 5:149977663-149977667
13 SLC26A2 NM_000112.4(SLC26A2):c.1421del (p.Leu474fs) Deletion Pathogenic 960730 GRCh37: 5:149360575-149360575
GRCh38: 5:149981012-149981012
14 SLC26A2 NM_000112.4(SLC26A2):c.138dup (p.Gln47fs) Duplication Pathogenic 964035 GRCh37: 5:149357352-149357353
GRCh38: 5:149977789-149977790
15 SLC26A2 NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs) Indel Pathogenic 967713 GRCh37: 5:149360781-149360806
GRCh38: 5:149981218-149981243
16 SLC26A2 NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) Microsatellite Pathogenic 371777 rs763198695 GRCh37: 5:149357698-149357699
GRCh38: 5:149978135-149978136
17 SLC26A2 NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter) SNV Pathogenic 495551 rs766836061 GRCh37: 5:149360863-149360863
GRCh38: 5:149981300-149981300
18 SLC26A2 NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) Deletion Pathogenic 4087 rs386833498 GRCh37: 5:149360879-149360879
GRCh38: 5:149981316-149981316
19 SLC26A2 NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) SNV Pathogenic 4089 rs104893915 GRCh37: 5:149359991-149359991
GRCh38: 5:149980428-149980428
20 SLC26A2 NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) SNV Pathogenic 4092 rs104893919 GRCh37: 5:149357747-149357747
GRCh38: 5:149978184-149978184
21 SLC26A2 NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) SNV Pathogenic 4098 rs104893924 GRCh37: 5:149361113-149361113
GRCh38: 5:149981550-149981550
22 SLC26A2 NM_000112.3(SLC26A2):c.-26+2T>C SNV Pathogenic 4097 rs386833492 GRCh37: 5:149340544-149340544
GRCh38: 5:149960981-149960981
23 SLC26A2 NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) SNV Pathogenic 4089 rs104893915 GRCh37: 5:149359991-149359991
GRCh38: 5:149980428-149980428
24 SLC26A2 NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) SNV Pathogenic 4092 rs104893919 GRCh37: 5:149357747-149357747
GRCh38: 5:149978184-149978184
25 SLC26A2 NM_000112.3(SLC26A2):c.-26+2T>C SNV Pathogenic 4097 rs386833492 GRCh37: 5:149340544-149340544
GRCh38: 5:149960981-149960981
26 SLC26A2 NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) SNV Likely pathogenic 4098 rs104893924 GRCh37: 5:149361113-149361113
GRCh38: 5:149981550-149981550
27 SLC26A2 NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) Microsatellite Likely pathogenic 371777 rs763198695 GRCh37: 5:149357698-149357699
GRCh38: 5:149978135-149978136
28 SLC26A2 NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) Microsatellite Likely pathogenic 65558 rs121908077 GRCh37: 5:149360166-149360168
GRCh38: 5:149980603-149980605
29 SLC26A2 NM_000112.4(SLC26A2):c.1950del (p.Ile651fs) Deletion Likely pathogenic 962984 GRCh37: 5:149361106-149361106
GRCh38: 5:149981543-149981543
30 SLC26A2 NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) Microsatellite Likely pathogenic 65558 rs121908077 GRCh37: 5:149360166-149360168
GRCh38: 5:149980603-149980605
31 SLC26A2 NM_000112.3(SLC26A2):c.700-1G>C SNV Likely pathogenic 56027 rs200963884 GRCh37: 5:149359855-149359855
GRCh38: 5:149980292-149980292
32 SLC26A2 NM_000112.3(SLC26A2):c.451del (p.Tyr151fs) Deletion Likely pathogenic 189077 rs786204675 GRCh37: 5:149357664-149357664
GRCh38: 5:149978101-149978101
33 SLC26A2 NM_000112.4(SLC26A2):c.1878del (p.Thr627fs) Deletion Likely pathogenic 951956 GRCh37: 5:149361034-149361034
GRCh38: 5:149981471-149981471
34 SLC26A2 NM_000112.4(SLC26A2):c.2015_2016GA[1] (p.Asp673fs) Microsatellite Likely pathogenic 841272 GRCh37: 5:149361170-149361171
GRCh38: 5:149981607-149981608
35 SLC26A2 NM_000112.3(SLC26A2):c.63_64del (p.Asp21fs) Deletion Likely pathogenic 555480 rs1554095097 GRCh37: 5:149357277-149357278
GRCh38: 5:149977714-149977715
36 SLC26A2 NM_000112.3(SLC26A2):c.925del (p.Leu309fs) Deletion Likely pathogenic 556756 rs1554095296 GRCh37: 5:149360080-149360080
GRCh38: 5:149980517-149980517
37 SLC26A2 NM_000112.3(SLC26A2):c.1441del (p.Ser481fs) Deletion Likely pathogenic 557077 rs745774620 GRCh37: 5:149360592-149360592
GRCh38: 5:149981029-149981029
38 SLC26A2 NM_000112.3(SLC26A2):c.611T>G (p.Leu204Ter) SNV Likely pathogenic 557257 rs1554095156 GRCh37: 5:149357826-149357826
GRCh38: 5:149978263-149978263
39 SLC26A2 NM_000112.3(SLC26A2):c.325_326del (p.Leu109fs) Deletion Likely pathogenic 557364 rs1554095125 GRCh37: 5:149357538-149357539
GRCh38: 5:149977975-149977976
40 SLC26A2 NM_000112.3(SLC26A2):c.438del (p.Phe146fs) Deletion Likely pathogenic 557601 rs769859976 GRCh37: 5:149357647-149357647
GRCh38: 5:149978084-149978084
41 SLC26A2 NM_000112.3(SLC26A2):c.1926del (p.Leu644fs) Deletion Likely pathogenic 558379 rs1481910744 GRCh37: 5:149361082-149361082
GRCh38: 5:149981519-149981519
42 SLC26A2 NM_000112.3(SLC26A2):c.1859del (p.Lys620fs) Deletion Likely pathogenic 558414 rs1554095381 GRCh37: 5:149361013-149361013
GRCh38: 5:149981450-149981450
43 SLC26A2 NM_000112.3(SLC26A2):c.642_643del (p.Ser215fs) Deletion Likely pathogenic 558639 rs1554095167 GRCh37: 5:149357855-149357856
GRCh38: 5:149978292-149978293
44 SLC26A2 NM_000112.3(SLC26A2):c.1976del (p.Phe658_Leu659insTer) Deletion Likely pathogenic 56018 rs386833499 GRCh37: 5:149361128-149361128
GRCh38: 5:149981565-149981565
45 SLC26A2 NM_000112.3(SLC26A2):c.188del (p.Asp63fs) Deletion Likely pathogenic 371736 rs1057517496 GRCh37: 5:149357403-149357403
GRCh38: 5:149977840-149977840
46 SLC26A2 NM_000112.3(SLC26A2):c.1955_1958del (p.Asp652fs) Deletion Likely pathogenic 371708 rs1057517474 GRCh37: 5:149361109-149361112
GRCh38: 5:149981546-149981549
47 SLC26A2 NM_000112.3(SLC26A2):c.541C>T (p.Gln181Ter) SNV Likely pathogenic 371719 rs1057517483 GRCh37: 5:149357756-149357756
GRCh38: 5:149978193-149978193
48 SLC26A2 NM_000112.3(SLC26A2):c.207del (p.Phe69fs) Deletion Likely pathogenic 371687 rs1057517462 GRCh37: 5:149357420-149357420
GRCh38: 5:149977857-149977857
49 SLC26A2 NM_000112.3(SLC26A2):c.239_243dup (p.Pro82fs) Duplication Likely pathogenic 371749 rs1057517504 GRCh37: 5:149357449-149357450
GRCh38: 5:149977886-149977887
50 SLC26A2 NM_000112.3(SLC26A2):c.746C>G (p.Ser249Ter) SNV Likely pathogenic 371761 rs1057517514 GRCh37: 5:149359902-149359902
GRCh38: 5:149980339-149980339

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 4:

72
# Symbol AA change Variation ID SNP ID
1 SLC26A2 p.Arg279Trp VAR_007435 rs104893915
2 SLC26A2 p.Ala715Val VAR_007439 rs104893918
3 SLC26A2 p.Cys653Ser VAR_018655 rs104893924
4 SLC26A2 p.Phe256Ser VAR_066835 rs141961396

Expression for Epiphyseal Dysplasia, Multiple, 4

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 4.

Pathways for Epiphyseal Dysplasia, Multiple, 4

Pathways related to Epiphyseal Dysplasia, Multiple, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 COMP COL9A3 COL9A2 COL9A1
2
Show member pathways
12.31 MATN3 COMP COL9A3 COL9A2 COL9A1
3
Show member pathways
11.65 COMP COL9A3 COL9A2 COL9A1
4 10.84 COL9A3 COL9A1
5 10.78 MATN3 COMP COL9A3 COL9A2 COL9A1
6 10.7 COL9A3 COL9A2 COL9A1

GO Terms for Epiphyseal Dysplasia, Multiple, 4

Cellular components related to Epiphyseal Dysplasia, Multiple, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.62 MATN3 COL9A3 COL9A2 COL9A1
2 collagen-containing extracellular matrix GO:0062023 9.55 MATN3 COMP COL9A3 COL9A2 COL9A1
3 collagen trimer GO:0005581 9.43 COL9A3 COL9A2 COL9A1
4 extracellular matrix GO:0031012 9.35 MATN3 COMP COL9A3 COL9A2 COL9A1
5 collagen type IX trimer GO:0005594 8.8 COL9A3 COL9A2 COL9A1

Biological processes related to Epiphyseal Dysplasia, Multiple, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.13 MATN3 COMP COL9A2
2 extracellular matrix organization GO:0030198 9.02 MATN3 COMP COL9A3 COL9A2 COL9A1

Molecular functions related to Epiphyseal Dysplasia, Multiple, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL9A3 COL9A2 COL9A1
2 extracellular matrix structural constituent GO:0005201 9.02 MATN3 COMP COL9A3 COL9A2 COL9A1

Sources for Epiphyseal Dysplasia, Multiple, 4

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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