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 53 29 6
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations Leptodactylic Type 53
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations Hall Type 53

Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93360Disease definitionSpondyloepimetaphyseal 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.Visit the Orphanet disease page for more resources.

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, matrilin-3 related. An important gene associated with Spondyloepimetaphyseal Dysplasia with Multiple Dislocations is KIF22 (Kinesin Family Member 22). Affiliated tissues include bone, and related phenotypes are macrocephaly and malar flattening

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 12.1
2 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.5

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Multiple Dislocations:

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

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

Genetic tests related to Spondyloepimetaphyseal Dysplasia with Multiple Dislocations:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 29 KIF22

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia with Multiple Dislocations:

41
Bone

Publications for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Articles related to Spondyloepimetaphyseal Dysplasia with Multiple Dislocations:

# Title Authors Year
1
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance. ( 17676604 )
2007
2
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. ( 12966527 )
2003
3
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. ( 12205110 )
2002
4
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. ( 9678701 )
1998

Variations for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF22 NM_007317.2(KIF22): c.442C> T (p.Pro148Ser) single nucleotide variant Pathogenic rs193922920 GRCh37 Chromosome 16, 29809961: 29809961
2 KIF22 NM_007317.2(KIF22): c.442C> T (p.Pro148Ser) single nucleotide variant Pathogenic rs193922920 GRCh38 Chromosome 16, 29798640: 29798640
3 KIF22 NM_007317.2(KIF22): c.443C> T (p.Pro148Leu) single nucleotide variant Pathogenic rs193922921 GRCh37 Chromosome 16, 29809962: 29809962
4 KIF22 NM_007317.2(KIF22): c.443C> T (p.Pro148Leu) single nucleotide variant Pathogenic rs193922921 GRCh38 Chromosome 16, 29798641: 29798641
5 KIF22 NM_007317.2(KIF22): c.446G> A (p.Arg149Gln) single nucleotide variant Pathogenic rs193922922 GRCh37 Chromosome 16, 29809965: 29809965
6 KIF22 NM_007317.2(KIF22): c.446G> A (p.Arg149Gln) single nucleotide variant Pathogenic rs193922922 GRCh38 Chromosome 16, 29798644: 29798644
7 KIF22 NM_007317.2(KIF22): c.446G> T (p.Arg149Leu) single nucleotide variant Pathogenic rs193922922 GRCh37 Chromosome 16, 29809965: 29809965
8 KIF22 NM_007317.2(KIF22): c.446G> T (p.Arg149Leu) single nucleotide variant Pathogenic rs193922922 GRCh38 Chromosome 16, 29798644: 29798644
9 KIF22 NM_007317.2(KIF22): c.1424T> G (p.Val475Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 29814233: 29814233
10 KIF22 NM_007317.2(KIF22): c.1424T> G (p.Val475Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 29802912: 29802912

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
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10 dbSNP
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17 ExPASy
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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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