SEDN
MCID: SPN228
MIFTS: 19

Spondyloepiphyseal Dysplasia, Nishimura Type (SEDN)

Categories: Genetic diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Nishimura Type

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia, Nishimura Type:

Name: Spondyloepiphyseal Dysplasia, Nishimura Type 56 6
Sedn 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


Classifications:



Summaries for Spondyloepiphyseal Dysplasia, Nishimura Type

OMIM : 56 The Nishimura type of spondyloepiphyseal dysplasia (SEDN) is characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Radiologic hallmarks include mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses (Grigelioniene et al., 2019). (618618)

MalaCards based summary : Spondyloepiphyseal Dysplasia, Nishimura Type, also known as sedn, is related to spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation. An important gene associated with Spondyloepiphyseal Dysplasia, Nishimura Type is MIR140 (MicroRNA 140). Affiliated tissues include bone and skeletal muscle, and related phenotypes are hypertelorism and short neck

Related Diseases for Spondyloepiphyseal Dysplasia, Nishimura Type

Diseases related to Spondyloepiphyseal Dysplasia, Nishimura Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 11.5

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Nishimura Type

Human phenotypes related to Spondyloepiphyseal Dysplasia, Nishimura Type:

31 (show all 39)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 hallmark (90%) HP:0000316
2 short neck 31 hallmark (90%) HP:0000470
3 cataract 31 hallmark (90%) HP:0000518
4 global developmental delay 31 hallmark (90%) HP:0001263
5 depressed nasal bridge 31 hallmark (90%) HP:0005280
6 short nose 31 hallmark (90%) HP:0003196
7 anteverted nares 31 hallmark (90%) HP:0000463
8 brachycephaly 31 hallmark (90%) HP:0000248
9 long philtrum 31 hallmark (90%) HP:0000343
10 ovoid vertebral bodies 31 hallmark (90%) HP:0003300
11 narrow chest 31 hallmark (90%) HP:0000774
12 platyspondyly 31 hallmark (90%) HP:0000926
13 coxa valga 31 hallmark (90%) HP:0002673
14 epicanthus 31 hallmark (90%) HP:0000286
15 downturned corners of mouth 31 hallmark (90%) HP:0002714
16 flattened epiphysis 31 hallmark (90%) HP:0003071
17 increased bone mineral density 31 hallmark (90%) HP:0011001
18 wide anterior fontanel 31 hallmark (90%) HP:0000260
19 long palpebral fissure 31 hallmark (90%) HP:0000637
20 slender finger 31 hallmark (90%) HP:0001238
21 abnormality of the skull base 31 hallmark (90%) HP:0002693
22 thoracic kyphosis 31 hallmark (90%) HP:0002942
23 flat acetabular roof 31 hallmark (90%) HP:0003180
24 delayed patellar ossification 31 hallmark (90%) HP:0006454
25 wide proximal femoral metaphysis 31 hallmark (90%) HP:0008783
26 anterior plagiocephaly 31 hallmark (90%) HP:0011326
27 frontal bossing 31 frequent (33%) HP:0002007
28 micrognathia 31 frequent (33%) HP:0000347
29 hypopigmentation of the fundus 31 frequent (33%) HP:0007894
30 abnormality of cranial sutures 31 frequent (33%) HP:0011329
31 hemiatrophy of upper limb 31 frequent (33%) HP:0100558
32 high palate 31 occasional (7.5%) HP:0000218
33 cleft palate 31 occasional (7.5%) HP:0000175
34 myopia 31 occasional (7.5%) HP:0000545
35 microphthalmia 31 occasional (7.5%) HP:0000568
36 retinal detachment 31 occasional (7.5%) HP:0000541
37 oligosacchariduria 31 occasional (7.5%) HP:0010471
38 abnormality of the elbow 31 occasional (7.5%) HP:0009811
39 anisospondyly 31 occasional (7.5%) HP:0002879

Symptoms via clinical synopsis from OMIM:

56
Respiratory Larynx:
laryngomalacia
narrow larynx
floppy cartilage

Respiratory:
inspiratory stridor
frequent respiratory infections
prolonged cough

Head And Neck Nose:
small nose

Growth Height:
short stature, disproportionate

Skeletal Spine:
spondylar dysplasia, mild
mild irregularity of vertebral endplates at thoracolumbar junction
premature spondylosis (in adulthood)

Skeletal Limbs:
epiphyseal dysplasia
delayed epiphyseal ossification of proximal femur
short, constricted femoral neck
delayed epiphyseal ossification of knee
premature degenerative joint disease (in adulthood)

Head And Neck Face:
midface hypoplasia

Skeletal Hands:
broad thumbs
cone-shaped phalangeal epiphyses
small hands
brachydactyly, severe

Skeletal Feet:
small feet

Skeletal Pelvis:
hypoplasia of lower ilium

Clinical features from OMIM:

618618

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Nishimura Type

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia, Nishimura Type

Genetic Tests for Spondyloepiphyseal Dysplasia, Nishimura Type

Anatomical Context for Spondyloepiphyseal Dysplasia, Nishimura Type

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia, Nishimura Type:

40
Bone, Skeletal Muscle

Publications for Spondyloepiphyseal Dysplasia, Nishimura Type

Articles related to Spondyloepiphyseal Dysplasia, Nishimura Type:

# Title Authors PMID Year
1
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia. 56 6
30804514 2019
2
Montelukast Reduces Serum Levels of Eosinophil-Derived Neurotoxin in Preschool Asthma. 61
30306750 2018
3
Skeletal muscle adaptations and biomechanical properties of tendons in response to jump exercise in rabbits. 61
18849388 2009

Variations for Spondyloepiphyseal Dysplasia, Nishimura Type

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia, Nishimura Type:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MIR140 MIR140, 24A-GSNV Pathogenic 691804

Expression for Spondyloepiphyseal Dysplasia, Nishimura Type

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia, Nishimura Type.

Pathways for Spondyloepiphyseal Dysplasia, Nishimura Type

GO Terms for Spondyloepiphyseal Dysplasia, Nishimura Type

Sources for Spondyloepiphyseal Dysplasia, Nishimura Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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