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

MCID: SPN358 MIFTS: 24	Spondyloepimetaphyseal Dysplasia, X-Linked Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download 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

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.

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

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	12.3
2	spondyloepimetaphyseal dysplasia, matrilin-3 related	10.1

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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

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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	1678.22	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

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⁸ Cochrane Library

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¹⁰ dbSNP

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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

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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

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⁴⁴ MeSH

⁴⁵ MESH via Orphanet

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

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⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

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⁶⁶ Reactome

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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