SEMDJL2
MCID: SPN263
MIFTS: 27

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 (SEMDJL2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare 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 58 13
Semdjl2 58 60 76
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type 58 60
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations, Hall Type 58 60
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 60 74
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations Hall Type 76
Spondyloepimetaphyseal Dysplasia with Joint Laxity Leptodactylic Type 76
Spondyloepimetaphyseal Dysplasia with Joint Laxicity, Hall Type 60
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Hall Type 58
Spondyloepimetaphyseal Dysplasia with Joint Laxity Hall Type 76
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 60
Spondyloepimetaphyseal Dysplasia with Joint Laxity, 2 76
Lepto-Semdjl 76
Semd-Md 60

Characteristics:

Orphanet epidemiological data:

60
spondyloepimetaphyseal dysplasia with multiple dislocations
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
spondyloepimetaphyseal dysplasia with joint laxity, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 603546
MeSH 45 D010009
MESH via Orphanet 46 C535784
ICD10 via Orphanet 35 Q77.7
UMLS via Orphanet 75 C1863732
Orphanet 60 ORPHA93360
MedGen 43 C1863732
UMLS 74 C1863732

Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

OMIM : 58 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). 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 (summary by Boyden et al., 2011). (603546)

MalaCards based summary : Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2, also known as semdjl2, is related to spondyloepimetaphyseal dysplasia with multiple dislocations and spondyloepimetaphyseal dysplasia, matrilin-3 related. 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 malar flattening and genu valgum

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Diseases in the Spondyloepimetaphyseal Dysplasia Joint Laxity family:

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

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 with multiple dislocations 11.9
2 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.7
3 spondyloepimetaphyseal dysplasia joint laxity 10.7

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

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

60 33 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 Very frequent (99-80%) HP:0000272
2 genu valgum 60 33 Frequent (79-30%) HP:0002857
3 muscular hypotonia 60 33 Occasional (29-5%) HP:0001252
4 scoliosis 60 33 Very frequent (99-80%) HP:0002650
5 short stature 60 33 Very frequent (99-80%) HP:0004322
6 flat capital femoral epiphysis 60 33 Very frequent (99-80%) HP:0003370
7 metaphyseal irregularity 60 33 Very frequent (99-80%) HP:0003025
8 macrocephaly 60 Frequent (79-30%)
9 low-set ears 60 Occasional (29-5%)
10 short neck 60 Occasional (29-5%)
11 joint dislocation 60 Very frequent (99-80%)
12 frontal bossing 60 Frequent (79-30%)
13 osteoarthritis 60 Frequent (79-30%)
14 abnormality of epiphysis morphology 60 Very frequent (99-80%)
15 kyphosis 60 Very frequent (99-80%)
16 global developmental delay 60 Frequent (79-30%)
17 skeletal dysplasia 60 Very frequent (99-80%)
18 depressed nasal bridge 60 Very frequent (99-80%)
19 pes planus 60 Occasional (29-5%)
20 short nose 60 Frequent (79-30%)
21 anteverted nares 60 Frequent (79-30%)
22 platyspondyly 60 Very frequent (99-80%)
23 micromelia 60 Very frequent (99-80%)
24 joint hyperflexibility 60 Very frequent (99-80%)
25 carpal bone hypoplasia 33 HP:0001498
26 enlarged thorax 60 Frequent (79-30%)
27 congenital hip dislocation 33 HP:0001374
28 joint laxity 33 HP:0001388
29 hip dislocation 60 Very frequent (99-80%)
30 abnormal bone ossification 60 Very frequent (99-80%)
31 genu varum 60 Occasional (29-5%)
32 midface retrusion 33 HP:0011800
33 delayed patellar ossification 33 HP:0006454
34 nail dysplasia 60 Frequent (79-30%)
35 abnormality of the sacrum 60 Frequent (79-30%)
36 wide nose 60 Frequent (79-30%)
37 generalized hypotonia 33 HP:0001290
38 spinal dysraphism 33 HP:0010301
39 broad distal phalanx of finger 33 HP:0009836
40 laryngeal stenosis 60 Frequent (79-30%)
41 dislocated radial head 33 HP:0003083
42 irregular vertebral endplates 33 HP:0003301
43 small epiphyses 33 HP:0010585
44 irregular epiphyses 33 HP:0010582
45 flared metaphysis 33 HP:0003015
46 posterior scalloping of vertebral bodies 33 HP:0005121
47 large joint dislocations 33 HP:0005008
48 laryngotracheomalacia 60 Frequent (79-30%)
49 soft skin 33 HP:0000977
50 abnormality of the patella 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
genu valgum
radial head dislocation
large joint dislocations (especially knees)
small, flattened irregular epiphyses
irregular, flared metaphyses with streaky sclerosis
more
Growth Height:
short stature

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
Skeletal Spine:
scoliosis
caudal narrowing of interpedicular distances
vertebral endplate irregularity
posterior vertebral body scalloping
sacral spinal dysraphism

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

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

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

42
Bone, Skin

Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

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

# 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 (Hall type): three further cases and evidence of autosomal dominant inheritance. ( 12205110 )
2002

Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

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

76
# 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

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

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 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
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63 PubMed
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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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