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

SEMDX MCID: SPN358 MIFTS: 27	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 ⁵⁶ ⁷³ ⁷¹

Spondyloepimetaphyseal Dysplasia X-Linked ⁵² ²⁹ ⁶

Semdx ⁵⁶ ⁵² ⁷³

Semd, X-Linked ⁵⁶ ⁷³

X-Linked Spondyloepimetaphyseal Dysplasia ⁵⁸

Spondylo-Epimetaphyseal Dysplasia ⁵²

Semd X-Linked ⁵²

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
x-linked recessive

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

HPO:

³¹

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: ³³

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: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 300106

MeSH ⁴³ D010009

ICD10 via Orphanet ³³ Q77.7

UMLS via Orphanet ⁷² C1848097

Orphanet ⁵⁸ ORPHA93349

MedGen ⁴¹ C1848097

SNOMED-CT via HPO ⁶⁸ 205101001 254062008 299035006 more

UMLS ⁷¹ C1848097

Sources

Summaries for Spondyloepimetaphyseal Dysplasia, X-Linked

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93349 Definition 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 hypomyelinating leukodystrophy and spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures. 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 : ⁷³ 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.

More information 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 hypomyelinating leukodystrophy	33.1	RAB33A AIFM1
2	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	10.6
3	dwarfism	10.4
4	spondyloepimetaphyseal dysplasia, matrilin-3 related	10.4
5	brachydactyly	10.2
6	hypomyelinating leukodystrophy	9.4	RAB33A AIFM1
7	combined oxidative phosphorylation deficiency 6	9.2	RAB33A AIFM1

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked:

Sources

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, X-Linked

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked:

³¹ (show all 36)

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

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Skeletal Hands:
brachydactyly
short hands
delayed carpal bone age
radial deviation of hands
short, broad metacarpals and phalanges
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 Pelvis:
coxa valga
flared iliac wings
horizontal acetabular roof
narrow pelvis
hypoplastic iliac bones
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 ²⁹	BGN

Sources

Anatomical Context for Spondyloepimetaphyseal Dysplasia, X-Linked

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

⁴⁰

Bone, Tongue

Sources

Publications for Spondyloepimetaphyseal Dysplasia, X-Linked

Articles related to Spondyloepimetaphyseal Dysplasia, X-Linked:

#	Title	Authors	PMID	Year
1	BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. ⁶¹ ⁵⁶ ⁶	Cho SY...Jin DK	27236923	2016
2	New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family. ⁶¹ ⁵⁶ ⁶	Camera G...Camera A	8064814	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	1667.95	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	27236923 8064814
2	AIFM1	Apoptosis Inducing Factor Mitochondria Associated 1	Protein Coding	8.36	GeneCards inferred via : Variants (show sections)
3	RAB33A	RAB33A, Member RAS Oncogene Family	Protein Coding	8.36	GeneCards inferred via : Variants (show sections)

Sources

Variations for Spondyloepimetaphyseal Dysplasia, X-Linked

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

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	BGN	NM_001711.6(BGN):c.439A>G (p.Lys147Glu)	SNV	Pathogenic	243090	rs879255604	X:152771408-152771408	X:153505950-153505950
2	BGN	NM_001711.6(BGN):c.776G>T (p.Gly259Val)	SNV	Pathogenic	243091	rs879255605	X:152772510-152772510	X:153507052-153507052

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

⁷³

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

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 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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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:

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked:

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

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

UniProtKB/Swiss-Prot 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