Spondyloepiphyseal Dysplasia, Nishimura Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SEDN MCID: SPN228 MIFTS: 19	Spondyloepiphyseal Dysplasia, Nishimura Type (SEDN) Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

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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

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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

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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

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Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Nishimura Type

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

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Genetic Tests for Spondyloepiphyseal Dysplasia, Nishimura Type

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Anatomical Context for Spondyloepiphyseal Dysplasia, Nishimura Type

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

⁴⁰

Bone, Skeletal Muscle

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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	Grigelioniene G...Kobayashi T	30804514	2019
2	Montelukast Reduces Serum Levels of Eosinophil-Derived Neurotoxin in Preschool Asthma. ⁶¹	Kim CK...Fujisawa T	30306750	2018
3	Skeletal muscle adaptations and biomechanical properties of tendons in response to jump exercise in rabbits. ⁶¹	Gondret F...Combes S	18849388	2009

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Genes for Spondyloepiphyseal Dysplasia, Nishimura Type

Genes related to Spondyloepiphyseal Dysplasia, Nishimura Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MIR140	MicroRNA 140	RNA Gene	900	Molecular basis known ⁵⁶ Pathogenic ⁶	30804514

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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-G	SNV	Pathogenic	691804

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Expression for Spondyloepiphyseal Dysplasia, Nishimura Type

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

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Pathways for Spondyloepiphyseal Dysplasia, Nishimura Type

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GO Terms for Spondyloepiphyseal Dysplasia, Nishimura Type

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⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spondyloepiphyseal Dysplasia, Nishimura Type (SEDN)

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Nishimura Type

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia, Nishimura Type:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Spondyloepiphyseal Dysplasia, Nishimura Type

Related Diseases for Spondyloepiphyseal Dysplasia, Nishimura Type

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

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Nishimura Type

Human phenotypes related to Spondyloepiphyseal Dysplasia, Nishimura Type:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Spondyloepiphyseal Dysplasia, Nishimura Type

Articles related to Spondyloepiphyseal Dysplasia, Nishimura Type:

Genes for Spondyloepiphyseal Dysplasia, Nishimura Type

Genes related to Spondyloepiphyseal Dysplasia, Nishimura Type (1 elite genes):

Variations for Spondyloepiphyseal Dysplasia, Nishimura Type

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia, Nishimura Type:

Expression for Spondyloepiphyseal Dysplasia, Nishimura Type

Pathways for Spondyloepiphyseal Dysplasia, Nishimura Type

GO Terms for Spondyloepiphyseal Dysplasia, Nishimura Type

Sources for Spondyloepiphyseal Dysplasia, Nishimura Type