MCID: SPN133
MIFTS: 22

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 54 30 6
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations Leptodactylic Type 54
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations Hall Type 54

Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

NIH Rare Diseases : 54 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 malar flattening and scoliosis

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:

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

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 30 KIF22

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

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

42
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 rs1555499767 GRCh37 Chromosome 16, 29814233: 29814233
10 KIF22 NM_007317.2(KIF22): c.1424T> G (p.Val475Gly) single nucleotide variant Uncertain significance rs1555499767 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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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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