SEMDBCD
MCID: SPN445
MIFTS: 26

Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type (SEMDBCD)

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

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type:

Name: Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type 57
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 20 29 6 39
Spondyloepimetaphyseal Dysplasia Matrilin-3 Type 20 72
Semd, Matn3-Related 57 58
Spondyloepimetaphyseal Dysplasia, Borochowitz Cormier-Daire Type 57
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 57
Spondylo-Epi-Metaphyseal Dysplasia Matrilin 3 Type 72
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type 58
Spondyloepimetaphyseal Dysplasia Bowed-Legs Type 72
Spondylometaepiphyseal Dysplasia Matrilin-3 Type 72
Spondyloepimetaphyseal Dysplasia, Matn3-Related 72
Spondyloepimetaphyseal Disorder 70
Matrilin-3 Related Semd 72
Semd, Matrilin-3 Type 58
Semd Matrilin-3 Type 72
Semd Matn3-Related 20
Semd-Matn3 72
Semdbcd 57

Characteristics:

Orphanet epidemiological data:

58
spondyloepimetaphyseal dysplasia, matrilin-3 type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
waddling gait
allelic to multiple epiphyseal dysplasia, type 5 and hand osteoarthritis

Inheritance:
autosomal recessive


HPO:

31
spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 608728
MeSH 44 D001848
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 71 C1837481
Orphanet 58 ORPHA156728
MedGen 41 C1837481
UMLS 70 C0432211

Summaries for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 156728 Definition Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. Epidemiology The syndrome has been described in a large consanguineous Arab Muslim family. Etiology It is caused by mutation in the matrilin-3 gene ( MATN3, 2p24-p23) and transmitted in an autosomal recessive manner. *

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type, also known as spondyloepimetaphyseal dysplasia matrilin-3 related, is related to metaphyseal dysplasia and multiple epiphyseal dysplasia, autosomal dominant. An important gene associated with Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type is MATN3 (Matrilin 3). Affiliated tissues include bone, and related phenotypes are limb undergrowth and bowing of the legs

UniProtKB/Swiss-Prot : 72 Spondyloepimetaphyseal dysplasia, MATN3-related: A bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies.

More information from OMIM: 608728

Related Diseases for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

Diseases related to Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 metaphyseal dysplasia 10.2
2 multiple epiphyseal dysplasia, autosomal dominant 10.2
3 epiphyseal dysplasia, multiple, 5 9.6 MATN3 LOC101928222
4 multiple epiphyseal dysplasia 9.6 MATN3 LOC101928222
5 cranioectodermal dysplasia 9.5 MATN3 LOC101928222

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type:



Diseases related to Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limb undergrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009826
2 bowing of the legs 58 31 hallmark (90%) Very frequent (99-80%) HP:0002979
3 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
4 disproportionate short-limb short stature 58 31 frequent (33%) Frequent (79-30%) HP:0008873
5 limited elbow extension 58 31 frequent (33%) Frequent (79-30%) HP:0001377
6 lumbar hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0002938
7 flat face 58 31 occasional (7.5%) Occasional (29-5%) HP:0012368
8 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
9 thoracic hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005257
10 enlarged joints 58 31 occasional (7.5%) Occasional (29-5%) HP:0003037
11 short stature 58 Very frequent (99-80%)
12 ovoid vertebral bodies 31 HP:0003300
13 platyspondyly 31 HP:0000926
14 micromelia 31 HP:0002983
15 narrow iliac wings 31 HP:0002868
16 hypoplastic pubic bone 31 HP:0003173
17 short long bone 31 HP:0003026
18 flat acetabular roof 31 HP:0003180
19 irregular epiphyses 31 HP:0010582
20 metaphyseal widening 31 HP:0003016
21 spondyloepimetaphyseal dysplasia 31 HP:0002651
22 small epiphyses 31 HP:0010585
23 metaphyseal spurs 31 HP:0005054
24 posterior rib cupping 31 HP:0000922
25 dysplastic iliac wings 31 HP:0008794

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Pelvis:
narrow iliac wings
flat acetabular roof
dysplastic iliac wings
hypoplastic pubic bones
underossified ischia

Skeletal Spine:
lumbar hyperlordosis
flat oval-shaped vertebral bodies

Chest External Features:
small chest

Skeletal Limbs:
limited elbow extension
short limbs
bowed legs
short, tubular bones
wide metaphyses with lateral spurs
more
Chest Ribs Sternum Clavicles And Scapulae:
posterior rib cupping

Growth Height:
short-limb dwarfism

Clinical features from OMIM®:

608728 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 29 MATN3

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type:

40
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

Articles related to Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type:

# Title Authors PMID Year
1
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. 57 6
15121775 2004
2
Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cells. 61
25196597 2014

Variations for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MATN3 , LOC101928222 NM_002381.5(MATN3):c.910T>A (p.Cys304Ser) SNV Pathogenic 7544 rs104893639 GRCh37: 2:20202928-20202928
GRCh38: 2:20003167-20003167
2 MATN3 NM_002381.5(MATN3):c.526G>T (p.Val176Leu) SNV Uncertain significance 593099 rs200762092 GRCh37: 2:20205769-20205769
GRCh38: 2:20006008-20006008

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type:

72
# Symbol AA change Variation ID SNP ID
1 MATN3 p.Cys304Ser VAR_019888 rs104893639

Expression for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type.

Pathways for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

Sources for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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