MCID: SPN133
MIFTS: 21

Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Categories: Rare diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations:

Name: Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 20 6
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations Leptodactylic Type 20
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations Hall Type 20

Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93360 Definition Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/ scoliosis ). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia with Multiple Dislocations, also known as spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type, is related to spondyloepimetaphyseal dysplasia with joint laxity, type 2 and spondyloepimetaphyseal dysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia with Multiple Dislocations is KIF22 (Kinesin Family Member 22). Related phenotypes are scoliosis and kyphosis

Related Diseases for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Diseases related to Spondyloepimetaphyseal Dysplasia with Multiple Dislocations via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia with joint laxity, type 2 11.8
2 spondyloepimetaphyseal dysplasia 10.5
3 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 10.2
4 scoliosis 10.2
5 osteochondrodysplasia 10.2
6 hypotonia 10.2

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia with Multiple Dislocations:



Diseases related to Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Multiple Dislocations:

31 (show all 33)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 hallmark (90%) HP:0002650
2 kyphosis 31 hallmark (90%) HP:0002808
3 skeletal dysplasia 31 hallmark (90%) HP:0002652
4 depressed nasal bridge 31 hallmark (90%) HP:0005280
5 short stature 31 hallmark (90%) HP:0004322
6 platyspondyly 31 hallmark (90%) HP:0000926
7 hip dislocation 31 hallmark (90%) HP:0002827
8 joint hyperflexibility 31 hallmark (90%) HP:0005692
9 malar flattening 31 hallmark (90%) HP:0000272
10 micromelia 31 hallmark (90%) HP:0002983
11 metaphyseal irregularity 31 hallmark (90%) HP:0003025
12 flat capital femoral epiphysis 31 hallmark (90%) HP:0003370
13 slender metacarpals 31 hallmark (90%) HP:0006236
14 abnormal calcification of the carpal bones 31 hallmark (90%) HP:0009164
15 macrocephaly 31 frequent (33%) HP:0000256
16 frontal bossing 31 frequent (33%) HP:0002007
17 global developmental delay 31 frequent (33%) HP:0001263
18 short nose 31 frequent (33%) HP:0003196
19 anteverted nares 31 frequent (33%) HP:0000463
20 genu valgum 31 frequent (33%) HP:0002857
21 enlarged thorax 31 frequent (33%) HP:0100625
22 osteoarthritis 31 frequent (33%) HP:0002758
23 abnormal sacrum morphology 31 frequent (33%) HP:0005107
24 wide nose 31 frequent (33%) HP:0000445
25 nail dysplasia 31 frequent (33%) HP:0002164
26 laryngeal stenosis 31 frequent (33%) HP:0001602
27 laryngotracheomalacia 31 frequent (33%) HP:0008755
28 abnormal patella morphology 31 frequent (33%) HP:0003045
29 short neck 31 occasional (7.5%) HP:0000470
30 pes planus 31 occasional (7.5%) HP:0001763
31 low-set ears 31 occasional (7.5%) HP:0000369
32 genu varum 31 occasional (7.5%) HP:0002970
33 hypotonia 31 occasional (7.5%) HP:0001252

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Genetic Tests for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Publications for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Articles related to Spondyloepimetaphyseal Dysplasia with Multiple Dislocations:

# Title Authors PMID Year
1
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. 6
25256152 2015
2
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. 6
22152678 2011
3
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. 6
22152677 2011
4
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. 6
19277648 2009
5
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance. 61
17676604 2007
6
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. 61
12966527 2003
7
Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients. 61
12567412 2003
8
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. 61
12205110 2002
9
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. 61
9678701 1998

Variations for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIF22 NM_007317.3(KIF22):c.442C>T (p.Pro148Ser) SNV Pathogenic 30333 rs193922920 GRCh37: 16:29809961-29809961
GRCh38: 16:29798640-29798640
2 KIF22 NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) SNV Pathogenic 30335 rs193922922 GRCh37: 16:29809965-29809965
GRCh38: 16:29798644-29798644
3 KIF22 NM_007317.3(KIF22):c.446G>T (p.Arg149Leu) SNV Pathogenic 30336 rs193922922 GRCh37: 16:29809965-29809965
GRCh38: 16:29798644-29798644
4 KIF22 NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) SNV Pathogenic/Likely pathogenic 30334 rs193922921 GRCh37: 16:29809962-29809962
GRCh38: 16:29798641-29798641
5 KIF22 NM_007317.3(KIF22):c.1399G>A (p.Glu467Lys) SNV Likely pathogenic 803247 rs1596854441 GRCh37: 16:29814208-29814208
GRCh38: 16:29802887-29802887
6 KIF22 NM_007317.3(KIF22):c.1424T>G (p.Val475Gly) SNV Uncertain significance 547879 rs1555499767 GRCh37: 16:29814233-29814233
GRCh38: 16:29802912-29802912
7 KIF22 NM_007317.3(KIF22):c.1630C>G (p.Pro544Ala) SNV Uncertain significance 992442 GRCh37: 16:29815339-29815339
GRCh38: 16:29804018-29804018
8 KIF22 NM_007317.3(KIF22):c.502T>C (p.Trp168Arg) SNV Uncertain significance 1029156 GRCh37: 16:29810021-29810021
GRCh38: 16:29798700-29798700
9 KIF22 NM_007317.3(KIF22):c.1647C>G (p.His549Gln) SNV Uncertain significance 1034376 GRCh37: 16:29815356-29815356
GRCh38: 16:29804035-29804035
10 KIF22 NM_007317.3(KIF22):c.1818T>G (p.Ser606Arg) SNV Uncertain significance 1034377 GRCh37: 16:29816275-29816275
GRCh38: 16:29804954-29804954
11 KIF22 NM_007317.3(KIF22):c.8C>T (p.Ala3Val) SNV Uncertain significance 1034378 GRCh37: 16:29802088-29802088
GRCh38: 16:29790767-29790767
12 KIF22 NM_007317.3(KIF22):c.1425G>A (p.Val475=) SNV Benign 803248 rs2450399 GRCh37: 16:29814234-29814234
GRCh38: 16:29802913-29802913

Expression for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations.

Pathways for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

GO Terms for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Sources for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

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
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45 MESH via Orphanet
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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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