MCID: SPN358
MIFTS: 24

Spondyloepimetaphyseal Dysplasia, X-Linked

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

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:



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
UMLS 73 C1848097

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

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

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 Frequency 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

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:

41
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

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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