SEMDBCD
MCID: SPN445
MIFTS: 28

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

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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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 73
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type 58 28 5
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 19 38
Spondyloepimetaphyseal Dysplasia Matrilin-3 Type 19 73
Semd, Matrilin-3 Type 58 73
Semd, Matn3-Related 57 58
Semdbcd 57 73
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 57
Spondylo-Epi-Metaphyseal Dysplasia Matrilin 3 Type 73
Spondyloepimetaphyseal Dysplasia Bowed-Legs Type 73
Spondylometaepiphyseal Dysplasia Matrilin-3 Type 73
Spondyloepimetaphyseal Disorder 71
Matrilin-3 Related Semd 73
Semd Matn3-Related 19

Characteristics:


Inheritance:

Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type: Autosomal recessive 57
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type: Autosomal recessive 58

Prevelance:

Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type: <1/1000000 (Worldwide) 58

Age Of Onset:

Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type: Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
waddling gait


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 608728
MeSH 43 D001848
ICD10 via Orphanet 32 Q77.7
UMLS via Orphanet 72 C1837481
Orphanet 58 ORPHA156728
MedGen 40 C1837481
UMLS 71 C0432211

Summaries for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

OMIM®: 57 The Borochowitz-Cormier-Daire type of spondyloepimetaphyseal dysplasia (SEMDBCD) is a rare type of autosomal recessive short-limb short-trunk dwarfism. Affected individuals have significant short stature with pronounced leg bowing, lumbar lordosis, and a waddling gait (summary by Borochowitz et al., 2004 and Shyamasundar et al., 2020). (608728) (Updated 08-Dec-2022)

MalaCards based summary: Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type, also known as spondyloepimetaphyseal dysplasia, matrilin-3 type, is related to pyle disease and metaphyseal dysplasia. 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: 73 An autosomal recessive 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.

GARD: 19 A rare primary bone dysplasia due to matrilin-3 varaints and 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.

Orphanet: 58 A rare primary bone dysplasia due to matrilin-3 varaints and 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.

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 pyle disease 10.3
2 metaphyseal dysplasia 10.3
3 multiple epiphyseal dysplasia, autosomal dominant 10.3
4 epiphyseal dysplasia, multiple, 5 9.5 WDR35-DT MATN3

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

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

58 30 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limb undergrowth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009826
2 bowing of the legs 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002979
3 waddling gait 58 30 Very rare (1%) Frequent (79-30%)
HP:0002515
4 lumbar hyperlordosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0002938
5 disproportionate short-limb short stature 58 30 Very rare (1%) Frequent (79-30%)
HP:0008873
6 limited elbow extension 58 30 Very rare (1%) Frequent (79-30%)
HP:0001377
7 flat face 58 30 Very rare (1%) Occasional (29-5%)
HP:0012368
8 pectus excavatum 58 30 Very rare (1%) Occasional (29-5%)
HP:0000767
9 thoracic hypoplasia 58 30 Very rare (1%) Occasional (29-5%)
HP:0005257
10 enlarged joints 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003037
11 femoral bowing 30 Very rare (1%) HP:0002980
12 short stature 58 Very frequent (99-80%)
13 ovoid vertebral bodies 30 HP:0003300
14 platyspondyly 30 HP:0000926
15 micromelia 30 HP:0002983
16 hypoplastic pubic bone 30 HP:0003173
17 squared iliac bones 30 HP:0003177
18 short long bone 30 HP:0003026
19 flat acetabular roof 30 HP:0003180
20 irregular epiphyses 30 HP:0010582
21 metaphyseal widening 30 HP:0003016
22 spondyloepimetaphyseal dysplasia 30 HP:0002651
23 small epiphyses 30 HP:0010585
24 narrow greater sciatic notch 30 HP:0003375
25 metaphyseal spurs 30 HP:0005054
26 posterior rib cupping 30 HP:0000922
27 dysplastic iliac wing 30 HP:0008794

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
posterior rib cupping

Skeletal Pelvis:
narrow iliac wings
flat acetabular roof
hypoplastic pubic bones
underossified ischia
dysplastic iliac wings
more
Chest External Features:
small chest

Growth Height:
short-limb dwarfism

Skeletal Limbs:
genu valgum
limited elbow extension
rhizomelic limb shortening
joint hyperlaxity
bowed legs
more
Skeletal Spine:
lumbar hyperlordosis
flat oval-shaped vertebral bodies

Skeletal Hands:
short, irregular phalanges
short, irregular metacarpals
widened wrists

Skeletal Feet:
widened ankles
planovalgus foot deformity

Clinical features from OMIM®:

608728 (Updated 08-Dec-2022)

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 Type 28 MATN3

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

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

MalaCards : 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. 62 57 5
15121775 2004
2
MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia. 57 5
31724101 2020
3
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 5
14729835 2004
4
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. 62
23956136 2013

Variations for Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR35-DT, MATN3 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.359C>T (p.Thr120Met) SNV Pathogenic
65664 rs397515546 GRCh37: 2:20205936-20205936
GRCh38: 2:20006175-20006175
3 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:

73
# 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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