SEDN
MCID: SPN228
MIFTS: 21

Spondyloepiphyseal Dysplasia, Nishimura Type (SEDN)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Nishimura Type

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia, Nishimura Type:

Name: Spondyloepiphyseal Dysplasia, Nishimura Type 56 58 6
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataract-Intellectual Disability Syndrome 58
Sedn 56

Characteristics:

Orphanet epidemiological data:

58
spondyloepiphyseal dysplasia, nishimura type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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, is also known as spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome. 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

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Nishimura Type

Human phenotypes related to Spondyloepiphyseal Dysplasia, Nishimura Type:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
6 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
7 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
8 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
9 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
10 ovoid vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003300
11 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
12 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
13 coxa valga 58 31 hallmark (90%) Very frequent (99-80%) HP:0002673
14 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
15 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
16 flattened epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003071
17 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
18 wide anterior fontanel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000260
19 long palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000637
20 slender finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001238
21 abnormality of the skull base 58 31 hallmark (90%) Very frequent (99-80%) HP:0002693
22 thoracic kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002942
23 flat acetabular roof 58 31 hallmark (90%) Very frequent (99-80%) HP:0003180
24 delayed patellar ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0006454
25 wide proximal femoral metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008783
26 anterior plagiocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0011326
27 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
28 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
29 hypopigmentation of the fundus 58 31 frequent (33%) Frequent (79-30%) HP:0007894
30 abnormality of cranial sutures 58 31 frequent (33%) Frequent (79-30%) HP:0011329
31 hemiatrophy of upper limb 58 31 frequent (33%) Frequent (79-30%) HP:0100558
32 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
33 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
34 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
35 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
36 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
37 oligosacchariduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0010471
38 abnormality of the elbow 58 31 occasional (7.5%) Occasional (29-5%) HP:0009811
39 anisospondyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002879
40 abnormal bone ossification 58 Very frequent (99-80%)
41 abnormality of the femoral neck or head region 58 Very frequent (99-80%)

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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