SEMDX
MCID: SPN358
MIFTS: 27

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 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:

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
UMLS 71 C1848097

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

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:



Diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, X-Linked

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked:

31 (show all 36)
# Description HPO Frequency 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

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 29 BGN

Anatomical Context for Spondyloepimetaphyseal Dysplasia, X-Linked

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

40
Bone, Tongue

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
27236923 2016
2
New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family. 61 56 6
8064814 1994

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

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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