Spondyloepimetaphyseal Dysplasia, X-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SEMDX MCID: SPN358 MIFTS: 26	Spondyloepimetaphyseal Dysplasia, X-Linked (SEMDX) Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, X-Linked

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, X-Linked:

Name: Spondyloepimetaphyseal Dysplasia, X-Linked ⁵⁷ ⁷⁵ ⁷³

Spondyloepimetaphyseal Dysplasia X-Linked ⁵³ ²⁹ ⁶

Semdx ⁵⁷ ⁵³ ⁷⁵

Semd, X-Linked ⁵⁷ ⁷⁵

X-Linked Spondyloepimetaphyseal Dysplasia ⁵⁹

Spondylo-Epimetaphyseal Dysplasia ⁵³

Semd X-Linked ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

x-linked spondyloepimetaphyseal dysplasia
Inheritance: X-linked recessive;

OMIM:

⁵⁷

Inheritance:
x-linked recessive

Miscellaneous:
pectus carinatum present in obligate carrier mothers
dwarfism not detectable at birth

HPO:

³²

spondyloepimetaphyseal dysplasia, x-linked:
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Spondyloepiphyseal dysplasia

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 300106

Orphanet ⁵⁹ ORPHA93349

UMLS via Orphanet ⁷⁴ C1848097

ICD10 via Orphanet ³⁴ Q77.7

MedGen ⁴² C1848097

MeSH ⁴⁴ D010009

SNOMED-CT via HPO ⁶⁹ 205101001 93250003 43476002 more

UMLS ⁷³ C1848097

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Summaries for Spondyloepimetaphyseal Dysplasia, X-Linked

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93349Disease definitionX-linked spondyloepimetaphyseal dysplasia is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, X-Linked, also known as spondyloepimetaphyseal dysplasia x-linked, is related to spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration and spondyloepimetaphyseal dysplasia, matrilin-3 related. An important gene associated with Spondyloepimetaphyseal Dysplasia, X-Linked is BGN (Biglycan). Affiliated tissues include bone and tongue, and related phenotypes are kyphosis and pectus carinatum

UniProtKB/Swiss-Prot : ⁷⁵ Spondyloepimetaphyseal dysplasia, X-linked: A X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence.

Description from OMIM: 300106

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Related Diseases for Spondyloepimetaphyseal Dysplasia, X-Linked

Diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration	12.4
2	spondyloepimetaphyseal dysplasia, matrilin-3 related	10.4

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Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, X-Linked

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Spine:
kyphosis
platyspondyly
lumbar lordosis
mild odontoid hypoplasia
anterior vertebral tongue (infancy)
more

Skeletal Pelvis:
coxa valga
flared iliac wings
horizontal acetabular roof
narrow pelvis
hypoplastic iliac bones
more

Skeletal:
spondyloepimetaphyseal dysplasia

Neurologic Central Nervous System:
normal intelligence

Skeletal Limbs:
irregular metaphyses
disproportionately long fibulae
moderate limitation of elbow extension
short, broad long bone diaphyses
disproportionately long ulnae
more

Skeletal Skull:
mild maxillary hypoplasia

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
short clavicles
posterior rib cupping

Skeletal Hands:
brachydactyly
short hands
delayed carpal bone age
radial deviation of hands
short, broad metacarpals and phalanges
more

Skeletal Feet:
short feet

Head And Neck Face:
normal facies

Growth Height:
severe short-trunked dwarfism (identifiable in early childhood)

Clinical features from OMIM:

300106

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked:

³² (show all 36)

#	Description	HPO Source Accession
1	kyphosis ³²	HP:0002808
2	pectus carinatum ³²	HP:0000768
3	disproportionate short-trunk short stature ³²	HP:0003521
4	platyspondyly ³²	HP:0000926
5	coxa valga ³²	HP:0002673
6	short palm ³²	HP:0004279
7	short long bone ³²	HP:0003026
8	short foot ³²	HP:0001773
9	hypoplasia of the maxilla ³²	HP:0000327
10	brachydactyly ³²	HP:0001156
11	flat acetabular roof ³²	HP:0003180
12	short metacarpal ³²	HP:0010049
13	narrow pelvis bone ³²	HP:0003275
14	short clavicles ³²	HP:0000894
15	hypoplasia of the odontoid process ³²	HP:0003311
16	cone-shaped epiphyses of the phalanges of the hand ³²	HP:0010230
17	short phalanx of finger ³²	HP:0009803
18	lumbar hyperlordosis ³²	HP:0002938
19	limited elbow extension ³²	HP:0001377
20	long fibula ³²	HP:0003085
21	flared iliac wings ³²	HP:0002869
22	cone-shaped metacarpal epiphyses ³²	HP:0006059
23	metaphyseal irregularity ³²	HP:0003025
24	long ulna ³²	HP:0003988
25	spondyloepimetaphyseal dysplasia ³²	HP:0002651
26	broad metacarpals ³²	HP:0001230
27	posterior rib cupping ³²	HP:0000922
28	delayed ossification of carpal bones ³²	HP:0001216
29	broad phalanx ³²	HP:0006009
30	radial deviation of the hand ³²	HP:0009486
31	cone-shaped distal radial epiphysis ³²	HP:0004000
32	anterior wedging of t11 ³²	HP:0004573
33	prominent styloid process of ulna ³²	HP:0004981
34	cone-shaped epiphyses fused within their metaphyses ³²	HP:0005066
35	broad long bone diaphyses ³²	HP:0006371
36	anterior wedging of t12 ³²	HP:0011940

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Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, X-Linked

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, X-Linked

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Genetic Tests for Spondyloepimetaphyseal Dysplasia, X-Linked

Genetic tests related to Spondyloepimetaphyseal Dysplasia, X-Linked:

#	Genetic test	Affiliating Genes
1	Spondyloepimetaphyseal Dysplasia X-Linked ²⁹	BGN

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Anatomical Context for Spondyloepimetaphyseal Dysplasia, X-Linked

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, X-Linked:

⁴¹

Bone, Tongue

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Publications for Spondyloepimetaphyseal Dysplasia, X-Linked

Articles related to Spondyloepimetaphyseal Dysplasia, X-Linked:

#	Title	Authors	Year
1	BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. ( 27236923 )	Cho S.Y....Jin D.K.	2016
2	New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family. ( 8064814 )	Camera G...Camera A	1994

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Genes for Spondyloepimetaphyseal Dysplasia, X-Linked

Genes related to Spondyloepimetaphyseal Dysplasia, X-Linked (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BGN	Biglycan	Protein Coding	1678.05	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	8064814 27236923

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Variations for Spondyloepimetaphyseal Dysplasia, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	BGN	p.Lys147Glu	VAR_076590	rs879255604
2	BGN	p.Gly259Val	VAR_076591	rs879255605

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BGN	NM_001711.5(BGN): c.439A> G (p.Lys147Glu)	single nucleotide variant	Pathogenic	rs879255604	GRCh37	Chromosome X, 152771408: 152771408
2	BGN	NM_001711.5(BGN): c.439A> G (p.Lys147Glu)	single nucleotide variant	Pathogenic	rs879255604	GRCh38	Chromosome X, 153505950: 153505950
3	BGN	NM_001711.5(BGN): c.776G> T (p.Gly259Val)	single nucleotide variant	Pathogenic	rs879255605	GRCh37	Chromosome X, 152772510: 152772510
4	BGN	NM_001711.5(BGN): c.776G> T (p.Gly259Val)	single nucleotide variant	Pathogenic	rs879255605	GRCh38	Chromosome X, 153507052: 153507052

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Expression for Spondyloepimetaphyseal Dysplasia, X-Linked

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, X-Linked.

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Pathways for Spondyloepimetaphyseal Dysplasia, X-Linked

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GO Terms for Spondyloepimetaphyseal Dysplasia, X-Linked

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Sources for Spondyloepimetaphyseal Dysplasia, X-Linked

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Spondyloepimetaphyseal Dysplasia, X-Linked (SEMDX)

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, X-Linked

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, X-Linked:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spondyloepimetaphyseal Dysplasia, X-Linked

Related Diseases for Spondyloepimetaphyseal Dysplasia, X-Linked

Diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, X-Linked

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked:

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, X-Linked

Genetic Tests for Spondyloepimetaphyseal Dysplasia, X-Linked

Genetic tests related to Spondyloepimetaphyseal Dysplasia, X-Linked:

Anatomical Context for Spondyloepimetaphyseal Dysplasia, X-Linked

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, X-Linked:

Publications for Spondyloepimetaphyseal Dysplasia, X-Linked

Articles related to Spondyloepimetaphyseal Dysplasia, X-Linked:

Genes for Spondyloepimetaphyseal Dysplasia, X-Linked

Genes related to Spondyloepimetaphyseal Dysplasia, X-Linked (1 elite genes):

Variations for Spondyloepimetaphyseal Dysplasia, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked:

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked:

Expression for Spondyloepimetaphyseal Dysplasia, X-Linked

Pathways for Spondyloepimetaphyseal Dysplasia, X-Linked

GO Terms for Spondyloepimetaphyseal Dysplasia, X-Linked

Sources for Spondyloepimetaphyseal Dysplasia, X-Linked