SEMDX
MCID: SPN358
MIFTS: 25

Spondyloepimetaphyseal Dysplasia, X-Linked (SEMDX)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

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:



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
UMLS 74 C1848097

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

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

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, X-Linked

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked:

33 (show all 36)
# Description HPO Frequency 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 broad phalanx 33 HP:0006009
24 delayed ossification of carpal bones 33 HP:0001216
25 radial deviation of the hand 33 HP:0009486
26 metaphyseal irregularity 33 HP:0003025
27 long ulna 33 HP:0003988
28 spondyloepimetaphyseal dysplasia 33 HP:0002651
29 broad metacarpals 33 HP:0001230
30 posterior rib cupping 33 HP:0000922
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

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, X-Linked

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

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

Anatomical Context for Spondyloepimetaphyseal Dysplasia, X-Linked

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

42
Bone, Tongue

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 )
2016
2
New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family. ( 8064814 )
1994

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

Expression for Spondyloepimetaphyseal Dysplasia, X-Linked

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

Pathways for Spondyloepimetaphyseal Dysplasia, X-Linked

GO Terms for Spondyloepimetaphyseal Dysplasia, X-Linked

Sources for Spondyloepimetaphyseal Dysplasia, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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