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

Sources

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, X-Linked

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, X-Linked:

Name: Spondyloepimetaphyseal Dysplasia, X-Linked ⁵⁸ ⁷⁶ ⁷⁴

Spondyloepimetaphyseal Dysplasia X-Linked ⁵⁴ ³⁰ ⁶

Semdx ⁵⁸ ⁵⁴ ⁷⁶

Semd, X-Linked ⁵⁸ ⁷⁶

X-Linked Spondyloepimetaphyseal Dysplasia ⁶⁰

Spondylo-Epimetaphyseal Dysplasia ⁵⁴

Semd X-Linked ⁵⁴

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
x-linked recessive

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

HPO:

³³

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: ³⁵

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: ⁶⁰

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 300106

MeSH ⁴⁵ D010009

ICD10 via Orphanet ³⁵ Q77.7

UMLS via Orphanet ⁷⁵ C1848097

Orphanet ⁶⁰ ORPHA93349

MedGen ⁴³ C1848097

SNOMED-CT via HPO ⁷⁰ 205101001 254062008 299035006 more

UMLS ⁷⁴ C1848097

Sources

Summaries for Spondyloepimetaphyseal Dysplasia, X-Linked

NIH Rare Diseases : ⁵⁴ 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 : ⁷⁶ 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

Sources

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	12.5
2	spondyloepimetaphyseal dysplasia, matrilin-3 related	10.4

Sources

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, X-Linked

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked:

³³ (show all 36)

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

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Sources

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, X-Linked

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

Sources

Genetic Tests for Spondyloepimetaphyseal Dysplasia, X-Linked

Genetic tests related to Spondyloepimetaphyseal Dysplasia, X-Linked:

#	Genetic test	Affiliating Genes
1	Spondyloepimetaphyseal Dysplasia X-Linked ³⁰	BGN

Sources

Anatomical Context for Spondyloepimetaphyseal Dysplasia, X-Linked

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

⁴²

Bone, Tongue

Sources

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

Sources

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	1678.04	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	8064814 27236923

Sources

Variations for Spondyloepimetaphyseal Dysplasia, X-Linked

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

⁷⁶

#	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

Sources

Expression for Spondyloepimetaphyseal Dysplasia, X-Linked

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

Sources

Pathways for Spondyloepimetaphyseal Dysplasia, X-Linked

Sources

GO Terms for Spondyloepimetaphyseal Dysplasia, X-Linked

Sources

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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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