SEMDJL2
MCID: SPN263
MIFTS: 33

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 (SEMDJL2)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

Name: Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 57 29 13 6
Semdjl2 57 12 58 72
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type 57 12 58
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations, Hall Type 57 12 58
Spondyloepimetaphyseal Dysplasia with Joint Laxicity, Hall Type 12 58
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 58 70
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 12 58
Semd-Md 12 58
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations Hall Type 72
Spondyloepimetaphyseal Dysplasia with Joint Laxity Leptodactylic Type 72
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Hall Type 57
Spondyloepimetaphyseal Dysplasia with Joint Laxity Hall Type 72
Spondyloepimetaphyseal Dysplasia with Joint Laxity, 2 72
Lepto-Semdjl 72

Characteristics:

Orphanet epidemiological data:

58
spondyloepimetaphyseal dysplasia with multiple dislocations
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

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


HPO:

31
spondyloepimetaphyseal dysplasia with joint laxity, type 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0112199
OMIM® 57 603546
OMIM Phenotypic Series 57 PS271640
MeSH 44 D010009
MESH via Orphanet 45 C535784
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 71 C1863732
Orphanet 58 ORPHA93360
MedGen 41 C1863732
UMLS 70 C1863732

Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

UniProtKB/Swiss-Prot : 72 Spondyloepimetaphyseal dysplasia with joint laxity, 2: A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2, also known as semdjl2, is related to spondyloepimetaphyseal dysplasia and spondyloepimetaphyseal dysplasia with joint laxity. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 is KIF22 (Kinesin Family Member 22). Affiliated tissues include eye and bone, and related phenotypes are scoliosis and short stature

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has material basis in heterozygous mutation in KIF22 on chromosome 16p11.2.

OMIM® : 57 Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by Min et al., 2011). For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640). (603546) (Updated 20-May-2021)

Related Diseases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Diseases in the Spondyloepimetaphyseal Dysplasia with Joint Laxity family:

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia 10.7
2 spondyloepimetaphyseal dysplasia with joint laxity 10.7
3 osteochondrodysplasia 10.6
4 spondyloepimetaphyseal dysplasia with multiple dislocations 10.6
5 isolated growth hormone deficiency, type ia 10.4
6 seckel syndrome 10.4
7 scoliosis 10.4
8 dwarfism 10.4
9 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 10.2
10 hypotonia 10.2

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:



Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 Very frequent (99-80%) HP:0002650
2 short stature 58 31 Very frequent (99-80%) HP:0004322
3 genu valgum 58 31 Frequent (79-30%) HP:0002857
4 malar flattening 58 31 Very frequent (99-80%) HP:0000272
5 metaphyseal irregularity 58 31 Very frequent (99-80%) HP:0003025
6 flat capital femoral epiphysis 58 31 Very frequent (99-80%) HP:0003370
7 macrocephaly 58 Frequent (79-30%)
8 frontal bossing 58 Frequent (79-30%)
9 kyphosis 58 Very frequent (99-80%)
10 short neck 58 Occasional (29-5%)
11 muscular hypotonia 58 Occasional (29-5%)
12 global developmental delay 58 Frequent (79-30%)
13 skeletal dysplasia 58 Very frequent (99-80%)
14 depressed nasal bridge 58 Very frequent (99-80%)
15 pes planus 58 Occasional (29-5%)
16 short nose 58 Frequent (79-30%)
17 anteverted nares 58 Frequent (79-30%)
18 enlarged thorax 58 Frequent (79-30%)
19 low-set ears 58 Occasional (29-5%)
20 congenital hip dislocation 31 HP:0001374
21 joint laxity 31 HP:0001388
22 platyspondyly 58 Very frequent (99-80%)
23 hip dislocation 58 Very frequent (99-80%)
24 joint hyperflexibility 58 Very frequent (99-80%)
25 abnormality of epiphysis morphology 58 Very frequent (99-80%)
26 joint dislocation 58 Very frequent (99-80%)
27 osteoarthritis 58 Frequent (79-30%)
28 genu varum 58 Occasional (29-5%)
29 micromelia 58 Very frequent (99-80%)
30 midface retrusion 31 HP:0011800
31 abnormal sacrum morphology 58 Frequent (79-30%)
32 wide nose 58 Frequent (79-30%)
33 nail dysplasia 58 Frequent (79-30%)
34 spinal dysraphism 31 HP:0010301
35 dislocated radial head 31 HP:0003083
36 generalized hypotonia 31 HP:0001290
37 laryngeal stenosis 58 Frequent (79-30%)
38 abnormal bone ossification 58 Very frequent (99-80%)
39 irregular vertebral endplates 31 HP:0003301
40 irregular epiphyses 31 HP:0010582
41 broad distal phalanx of finger 31 HP:0009836
42 posterior scalloping of vertebral bodies 31 HP:0005121
43 soft skin 31 HP:0000977
44 large joint dislocations 31 HP:0005008
45 laryngotracheomalacia 58 Frequent (79-30%)
46 flared metaphysis 31 HP:0003015
47 hypoplasia of the capital femoral epiphysis 31 HP:0003090
48 spondyloepimetaphyseal dysplasia 31 HP:0002651
49 abnormal patella morphology 58 Frequent (79-30%)
50 slender metacarpals 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
caudal narrowing of interpedicular distances
vertebral endplate irregularity
posterior vertebral body scalloping
sacral spinal dysraphism

Skeletal Limbs:
genu valgum
radial head dislocation
large joint dislocations (especially knees)
small, flattened irregular epiphyses
irregular, flared metaphyses with streaky sclerosis
more
Skeletal:
joint laxity
spondyloepimetaphyseal dysplasia

Head And Neck Face:
midface hypoplasia

Skeletal Hands:
gracile metacarpals
long, slender middle and proximal phalanges
broad, square ends of distal phalanges
prominent distal phalangeal tufts
small carpal bones
more
Growth Height:
short stature

Skeletal Pelvis:
congenital hip dislocation
small flattened capital femoral epiphyses
narrow femoral necks
tapered ischia

Neurologic Central Nervous System:
hypotonia

Skin Nails Hair Skin:
normal wound healing
velvety skin

Clinical features from OMIM®:

603546 (Updated 20-May-2021)

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Genetic Tests for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Genetic tests related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 29 KIF22

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

40
Eye, Bone

Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Articles related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

(show all 18)
# Title Authors PMID Year
1
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. 6 57
22152678 2011
2
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. 57 6
22152677 2011
3
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. 57 6
19277648 2009
4
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. 61 6
25256152 2015
5
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance. 57
17676604 2007
6
Nosology and classification of genetic skeletal disorders: 2006 revision. 57
17120245 2007
7
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 57
15602087 2005
8
Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature? 57
15194947 2004
9
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. 57
12966527 2003
10
Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients. 57
12567412 2003
11
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. 57
12205110 2002
12
Another observation of Langer-type sponastrime dysplasia variant. 57
9843056 1998
13
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. 57
9678701 1998
14
Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases. 57
9133352 1997
15
SPONASTRIME dysplasia: report on a female patient with severe skeletal changes. 57
8989461 1996
16
Sponastrime dysplasia: report on a male patient. 57
7824362 1994
17
Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. 57
7209574 1980
18
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. 61
23665482 2013

Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

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

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

72
# Symbol AA change Variation ID SNP ID
1 KIF22 p.Pro148Leu VAR_067345 rs193922921
2 KIF22 p.Pro148Ser VAR_067346 rs193922920
3 KIF22 p.Arg149Leu VAR_067347 rs193922922
4 KIF22 p.Arg149Gln VAR_067348 rs193922922

Expression for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2.

Pathways for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

GO Terms for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Sources for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

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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