SEDN
MCID: SPN228
MIFTS: 23

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 57 58 6
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataract-Intellectual Disability Syndrome 58
Sedn 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
spondyloepiphyseal dysplasia, nishimura type:
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Spondyloepiphyseal Dysplasia, Nishimura Type

OMIM® : 57 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) (Updated 05-Mar-2021)

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 short neck and cataract

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 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
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 ovoid vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003300
10 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
11 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
12 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
13 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
14 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
15 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
16 coxa valga 58 31 hallmark (90%) Very frequent (99-80%) HP:0002673
17 wide anterior fontanel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000260
18 slender finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001238
19 flattened epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003071
20 long palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000637
21 flat acetabular roof 58 31 hallmark (90%) Very frequent (99-80%) HP:0003180
22 thoracic kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002942
23 abnormality of the skull base 58 31 hallmark (90%) Very frequent (99-80%) HP:0002693
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 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
36 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
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 recurrent respiratory infections 31 HP:0002205
41 brachydactyly 31 HP:0001156
42 osteoarthritis 31 HP:0002758
43 small hand 31 HP:0200055
44 midface retrusion 31 HP:0011800
45 cone-shaped epiphysis 31 HP:0010579
46 disproportionate short-limb short stature 31 HP:0008873
47 abnormal bone ossification 58 Very frequent (99-80%)
48 abnormality of the femoral neck or head region 58 Very frequent (99-80%)
49 delayed epiphyseal ossification 31 HP:0002663
50 inspiratory stridor 31 HP:0005348

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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)

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)

Respiratory Larynx:
laryngomalacia
narrow larynx
floppy cartilage

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 (Updated 05-Mar-2021)

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. 6 57
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 WWP2 NM_001270454.2(WWP2):c.1683-866A>G SNV Pathogenic 599186 rs1567443039 16:69967007-69967007 16:69933104-69933104

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

Biological processes related to Spondyloepiphyseal Dysplasia, Nishimura Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 8.62 WWP2 MIR140

Sources for Spondyloepiphyseal Dysplasia, Nishimura Type

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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