MCID: EPP014
MIFTS: 26

Epiphyseal Dysplasia, Multiple, 4

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

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 4

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 4:

Name: Epiphyseal Dysplasia, Multiple, 4 57 13 73
Multiple Epiphyseal Dysplasia 4 53 75 29 6
Edm4 57 53 59 75
Multiple Epiphyseal Dysplasia with Bilayered Patellae 57 53
Multiple Epiphyseal Dysplasia, Autosomal Recessive 57 53
Autosomal Recessive Multiple Epiphyseal Dysplasia 53 59
Multiple Epiphyseal Dysplasia with Clubfoot 57 53
Multiple Epiphyseal Dysplasia with Double-Layered Patella 53
Dysplasia, Epiphyseal, Multiple, Type 4 40
Multiple Epiphyseal Dysplasia Type 4 59
Epiphyseal Dysplasia Multiple 4 53
Polyepiphyseal Dysplasia Type 4 59
Rmed 59
Med4 59

Characteristics:

Orphanet epidemiological data:

59
multiple epiphyseal dysplasia type 4
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epiphyseal dysplasia, multiple, 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 226900
Orphanet 59 ORPHA93307
UMLS via Orphanet 74 C1847593
MESH via Orphanet 45 C535504
ICD10 via Orphanet 34 Q77.3
MedGen 42 C1847593
MeSH 44 D010009
UMLS 73 C1847593

Summaries for Epiphyseal Dysplasia, Multiple, 4

UniProtKB/Swiss-Prot : 75 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 multiple epiphyseal dysplasia 4, is related to multiple epiphyseal dysplasia and multiple epiphyseal dysplasia, recessive, and has symptoms including arthralgia An important gene associated with Epiphyseal Dysplasia, Multiple, 4 is SLC26A2 (Solute Carrier Family 26 Member 2). Affiliated tissues include bone, and related phenotypes are osteoarthritis and scoliosis

Description from OMIM: 226900

Related Diseases for Epiphyseal Dysplasia, Multiple, 4

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 4

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 4:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
2 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
3 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
4 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
5 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
6 epiphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002656
7 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
8 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
9 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
10 abnormality of the patella 59 32 frequent (33%) Frequent (79-30%) HP:0003045
11 hip dysplasia 32 HP:0001385
12 brachydactyly 32 HP:0001156
13 short metacarpal 32 HP:0010049
14 abnormality of the knee 59 Frequent (79-30%)
15 limited elbow flexion 32 HP:0006376
16 multiple epiphyseal dysplasia 32 HP:0002654
17 flat capital femoral epiphysis 32 HP:0003370
18 hypoplasia of the femoral head 32 HP:0008802
19 double-layered patella 32 very rare (1%) HP:0031174

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 4:


arthralgia

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 4

Search Clinical Trials , NIH Clinical Center for 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 4 29 SLC26A2

Anatomical Context for Epiphyseal Dysplasia, Multiple, 4

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

41
Bone

Publications for Epiphyseal Dysplasia, Multiple, 4

Articles related to Epiphyseal Dysplasia, Multiple, 4:

# Title Authors Year
1
Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report. ( 29724173 )
2018

Variations for Epiphyseal Dysplasia, Multiple, 4

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

75
# 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

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

6
(show top 50) (show all 248)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Likely pathogenic rs786200881 GRCh37 Chromosome 5, 149357606: 149357606
2 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Likely pathogenic rs786200881 GRCh38 Chromosome 5, 149978043: 149978043
3 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh37 Chromosome 5, 149359991: 149359991
4 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh38 Chromosome 5, 149980428: 149980428
5 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh37 Chromosome 5, 149357747: 149357747
6 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh38 Chromosome 5, 149978184: 149978184
7 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Likely pathogenic rs104893916 GRCh37 Chromosome 5, 149361189: 149361189
8 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Likely pathogenic rs104893916 GRCh38 Chromosome 5, 149981626: 149981626
9 SLC26A2 NM_000112.3(SLC26A2): c.-26+2T> C single nucleotide variant Pathogenic rs386833492 GRCh37 Chromosome 5, 149340544: 149340544
10 SLC26A2 NM_000112.3(SLC26A2): c.-26+2T> C single nucleotide variant Pathogenic rs386833492 GRCh38 Chromosome 5, 149960981: 149960981
11 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh37 Chromosome 5, 149361113: 149361113
12 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh38 Chromosome 5, 149981550: 149981550
13 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh37 Chromosome 5, 149360550: 149360550
14 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh38 Chromosome 5, 149980987: 149980987
15 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh37 Chromosome 5, 149361132: 149361132
16 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh38 Chromosome 5, 149981569: 149981569
17 SLC26A2 NM_000112.3(SLC26A2): c.700-1G> C single nucleotide variant Likely pathogenic rs200963884 GRCh37 Chromosome 5, 149359855: 149359855
18 SLC26A2 NM_000112.3(SLC26A2): c.700-1G> C single nucleotide variant Likely pathogenic rs200963884 GRCh38 Chromosome 5, 149980292: 149980292
19 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh37 Chromosome 5, 149360176: 149360178
20 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh38 Chromosome 5, 149980613: 149980615
21 SLC26A2 NM_000112.3(SLC26A2): c.451delT (p.Tyr151Ilefs) deletion Likely pathogenic rs786204675 GRCh37 Chromosome 5, 149357666: 149357666
22 SLC26A2 NM_000112.3(SLC26A2): c.451delT (p.Tyr151Ilefs) deletion Likely pathogenic rs786204675 GRCh38 Chromosome 5, 149978103: 149978103
23 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh37 Chromosome 5, 149360877: 149360877
24 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh38 Chromosome 5, 149981314: 149981314
25 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh37 Chromosome 5, 149360143: 149360143
26 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh38 Chromosome 5, 149980580: 149980580
27 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh38 Chromosome 5, 149981813: 149981813
28 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh37 Chromosome 5, 149361376: 149361376
29 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
30 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
31 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh37 Chromosome 5, 149357444: 149357444
32 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh38 Chromosome 5, 149977881: 149977881
33 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh37 Chromosome 5, 149360668: 149360668
34 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh38 Chromosome 5, 149981105: 149981105
35 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh38 Chromosome 5, 149960965: 149960965
36 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh37 Chromosome 5, 149340528: 149340528
37 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh38 Chromosome 5, 149980845: 149980845
38 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh37 Chromosome 5, 149360408: 149360408
39 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh38 Chromosome 5, 149980995: 149980995
40 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh37 Chromosome 5, 149360558: 149360558
41 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh37 Chromosome 5, 149361301: 149361301
42 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh38 Chromosome 5, 149981738: 149981738
43 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh37 Chromosome 5, 149361592: 149361592
44 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh38 Chromosome 5, 149982029: 149982029
45 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh37 Chromosome 5, 149361706: 149361706
46 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh38 Chromosome 5, 149982143: 149982143
47 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh37 Chromosome 5, 149361770: 149361770
48 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh38 Chromosome 5, 149982207: 149982207
49 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh37 Chromosome 5, 149361966: 149361966
50 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh38 Chromosome 5, 149982403: 149982403

Expression for Epiphyseal Dysplasia, Multiple, 4

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

Pathways for Epiphyseal Dysplasia, Multiple, 4

GO Terms for Epiphyseal Dysplasia, Multiple, 4

Sources for Epiphyseal Dysplasia, Multiple, 4

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