SEMDJL2
MCID: SPN263
MIFTS: 36

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 (SEMDJL2)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Oral diseases, Rare diseases, Skin diseases
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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
Semdjl2 57 11 73
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type 57 11
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations, Hall Type 57 11
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations Hall Type 73 5
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 11 14
Spondyloepimetaphyseal Dysplasia with Joint Laxity Leptodactylic Type 73
Spondyloepimetaphyseal Dysplasia with Joint Laxicity, Hall Type 11
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Hall Type 57
Spondyloepimetaphyseal Dysplasia with Joint Laxity Hall Type 73
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 71
Spondyloepimetaphyseal Dysplasia with Joint Laxity, 2 73
Lepto-Semdjl 73
Semd-Md 11

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0112199
OMIM® 57 603546
OMIM Phenotypic Series 57 PS271640
MeSH 43 D010009
MedGen 40 C1863732
UMLS 71 C1863732

Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

UniProtKB/Swiss-Prot: 73 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 with joint laxity and spondyloepimetaphyseal dysplasia with multiple dislocations. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 is KIF22 (Kinesin Family Member 22). Affiliated tissues include bone and skin, and related phenotypes are scoliosis and hypotonia

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 08-Dec-2022)

Disease Ontology: 11 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.

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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia with joint laxity 30.6 ROGDI KIF22
2 spondyloepimetaphyseal dysplasia with multiple dislocations 11.6
3 spondyloepimetaphyseal dysplasia 10.7
4 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
5 osteochondrodysplasia 10.6
6 isolated growth hormone deficiency, type ia 10.4
7 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 10.4
8 seckel syndrome 10.4
9 scoliosis 10.4
10 microcephaly 10.4
11 laryngostenosis 10.4

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:

30 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 HP:0002650
2 hypotonia 30 HP:0001252
3 short stature 30 HP:0004322
4 genu valgum 30 HP:0002857
5 congenital hip dislocation 30 HP:0001374
6 joint laxity 30 HP:0001388
7 malar flattening 30 HP:0000272
8 midface retrusion 30 HP:0011800
9 spinal dysraphism 30 HP:0010301
10 dislocated radial head 30 HP:0003083
11 generalized hypotonia 30 HP:0001290
12 irregular vertebral endplates 30 HP:0003301
13 irregular epiphyses 30 HP:0010582
14 broad distal phalanx of finger 30 HP:0009836
15 posterior scalloping of vertebral bodies 30 HP:0005121
16 soft skin 30 HP:0000977
17 large joint dislocations 30 HP:0005008
18 flared metaphysis 30 HP:0003015
19 metaphyseal irregularity 30 HP:0003025
20 hypoplasia of the capital femoral epiphysis 30 HP:0003090
21 spondyloepimetaphyseal dysplasia 30 HP:0002651
22 flat capital femoral epiphysis 30 HP:0003370
23 small epiphyses 30 HP:0010585
24 delayed patellar ossification 30 HP:0006454
25 carpal bone hypoplasia 30 HP:0001498
26 delayed phalangeal epiphyseal ossification 30 HP:0006016
27 caudal interpedicular narrowing 30 HP:0008457
28 slender distal phalanx of finger 30 HP:0012296
29 streaky metaphyseal sclerosis 30 HP:0005092
30 long proximal phalanx of finger 30 HP:0006127
31 narrow femoral neck 30 HP:0008819
32 slender proximal phalanx of finger 30 HP:0012297
33 long distal phalanx of finger 30 HP:0012299

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
caudal narrowing of interpedicular distances
vertebral endplate irregularity
posterior vertebral body scalloping
sacral spinal dysraphism

Growth Height:
short stature

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

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
Neurologic Central Nervous System:
hypotonia

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

Skin Nails Hair Skin:
normal wound healing
velvety skin

Clinical features from OMIM®:

603546 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 according to GeneCards Suite gene sharing:

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.47 NIN
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.47 NIN ROGDI
3 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.47 ROGDI
4 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.47 NIN
5 Increased shRNA abundance (Z-score > 2) GR00366-A-150 9.47 NIN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-206 9.47 ROGDI
7 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.47 NIN
8 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.47 NIN
9 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.47 ROGDI
10 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.47 NIN
11 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.47 ROGDI
12 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.47 ROGDI
13 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.47 ROGDI

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.02 DDHD1 DNAI2 ELOF1 KIF22 NIN

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

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

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

MalaCards : Bone, Skin

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
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. 62 57 5
22152677 2011
2
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. 62 57 5
22152678 2011
3
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. 57 5
19277648 2009
4
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. 62 5
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. 62 57
17676604 2007
6
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. 62 57
12205110 2002
7
Nosology and classification of genetic skeletal disorders: 2006 revision. 57
17120245 2007
8
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 57
15602087 2005
9
Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature? 57
15194947 2004
10
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. 57
12966527 2003
11
Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients. 57
12567412 2003
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. 62
23665482 2013

Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

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

5 (show all 14)
# 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>T (p.Arg149Leu) SNV Pathogenic
30336 rs193922922 GRCh37: 16:29809965-29809965
GRCh38: 16:29798644-29798644
3 KIF22 NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) SNV Pathogenic
30335 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.752T>C (p.Leu251Pro) SNV Likely Pathogenic
1299611 GRCh37: 16:29810498-29810498
GRCh38: 16:29799177-29799177
6 KIF22 NM_007317.3(KIF22):c.1399G>A (p.Glu467Lys) SNV Likely Pathogenic
1685360 rs1596854441 GRCh37: 16:29814208-29814208
GRCh38: 16:29802887-29802887
7 KIF22 NM_007317.3(KIF22):c.1424T>G (p.Val475Gly) SNV Uncertain Significance
547879 rs1555499767 GRCh37: 16:29814233-29814233
GRCh38: 16:29802912-29802912
8 KIF22 NM_007317.3(KIF22):c.1630C>G (p.Pro544Ala) SNV Uncertain Significance
992442 rs1899240993 GRCh37: 16:29815339-29815339
GRCh38: 16:29804018-29804018
9 KIF22 NM_007317.3(KIF22):c.502T>C (p.Trp168Arg) SNV Uncertain Significance
1029156 rs779247770 GRCh37: 16:29810021-29810021
GRCh38: 16:29798700-29798700
10 KIF22 NM_007317.3(KIF22):c.1647C>G (p.His549Gln) SNV Uncertain Significance
1034376 rs142414573 GRCh37: 16:29815356-29815356
GRCh38: 16:29804035-29804035
11 KIF22 NM_007317.3(KIF22):c.1818T>G (p.Ser606Arg) SNV Uncertain Significance
1034377 rs141198653 GRCh37: 16:29816275-29816275
GRCh38: 16:29804954-29804954
12 KIF22 NM_007317.3(KIF22):c.8C>T (p.Ala3Val) SNV Uncertain Significance
1034378 rs755405115 GRCh37: 16:29802088-29802088
GRCh38: 16:29790767-29790767
13 KIF22 NM_007317.3(KIF22):c.1425G>A (p.Val475=) SNV Benign
803248 rs2450399 GRCh37: 16:29814234-29814234
GRCh38: 16:29802913-29802913
14 KIF22 NM_007317.3(KIF22):c.1230C>T (p.Ile410=) SNV Benign
1170585 GRCh37: 16:29811319-29811319
GRCh38: 16:29799998-29799998

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

73
# 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

Cellular components related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitotic spindle GO:0072686 9.26 NIN KIF22
2 microtubule GO:0005874 9.02 NIN KIF22 DNAI2

Biological processes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 8.92 KIF22 DNAI2

Molecular functions related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 8.92 KIF22 DNAI2

Sources for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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