MCID: SPN030
MIFTS: 27

Spondyloepimetaphyseal Dysplasia, Missouri Type

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

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Missouri Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Missouri Type:

Name: Spondyloepimetaphyseal Dysplasia, Missouri Type 57 12 53 59 29 6 15
Metaphyseal Anadysplasia 1 57 75 13 73
Spondyloepimetaphyseal Dysplasia Type 2 53 59 75
Semd, Missouri Type 57 53 59
Spondyloepimetaphyseal Dysplasia Missouri Type 53 75
Missouri Type of Spondyloepimetaphyseal Dysplasia 53
Spondyloepimetaphyseal Dysplasia Type Missouri 75
Spondylometaepiphyseal Dysplasia Type Missouri 75
Anadysplasia, Metaphyseal, Type 1 40
Semd Missouri Type 53
Semd Type 2 59
Semd-Mo 75
Mandp1 75

Characteristics:

Orphanet epidemiological data:

59
spondyloepimetaphyseal dysplasia, missouri type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Miscellaneous:
waddling gait
improvement of epimetaphyseal changes with age

Inheritance:
autosomal dominant


HPO:

32
spondyloepimetaphyseal dysplasia, missouri type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 602111
Disease Ontology 12 DOID:0080030
Orphanet 59 ORPHA93356
ICD10 via Orphanet 34 Q77.7
UMLS via Orphanet 74 C1865832
MeSH 44 D001848
UMLS 73 C2748495

Summaries for Spondyloepimetaphyseal Dysplasia, Missouri Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93356Disease definitionSpondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.EpidemiologyThe syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations.Clinical descriptionThough some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected sibs. Predisposition deformities to osteoarthritis (especially of the knees) have been noted.EtiologyThis condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Missouri Type, also known as metaphyseal anadysplasia 1, is related to spondyloepimetaphyseal dysplasia, matrilin-3 related and spondyloepiphyseal dysplasia congenita. An important gene associated with Spondyloepimetaphyseal Dysplasia, Missouri Type is MMP13 (Matrix Metallopeptidase 13). Affiliated tissues include bone, and related phenotypes are osteoarthritis and abnormality of epiphysis morphology

UniProtKB/Swiss-Prot : 75 Metaphyseal anadysplasia 1: A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. Spondyloepimetaphyseal dysplasia Missouri type: A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age.

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia that has material basis in mutations in the MMP13 gene which results in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.

Description from OMIM: 602111

Related Diseases for Spondyloepimetaphyseal Dysplasia, Missouri Type

Diseases related to Spondyloepimetaphyseal Dysplasia, Missouri Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.1
2 spondyloepiphyseal dysplasia congenita 9.0 MMP13 SEMA3A

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Missouri Type

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
osteoarthritis
genu varum
femoral bowing
limited elbow extension
tibial bowing
more
Chest Ribs Sternum Clavicles And Scapulae:
flared, irregular rib ends

Skeletal Spine:
normal odontoid process
pear-shaped vertebrae (childhood)
irregular sclerotic endplates (adults)
mild platyspondyly (adult)
schmorl nodule appearance (thoracolumbar vertebrae, adults)

Skeletal Pelvis:
coxa vara
flared iliac wings
small flattened epiphyses (proximal femur)

Skeletal:
spondyloepimetaphyseal dysplasia
delayed bone age

Growth Height:
adult male height 167-173cm
adult female height 152-167cm


Clinical features from OMIM:

602111

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Missouri Type:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
2 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
3 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
4 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
5 limitation of joint mobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001376
6 genu varum 59 32 frequent (33%) Frequent (79-30%) HP:0002970
7 coxa vara 59 32 frequent (33%) Frequent (79-30%) HP:0002812
8 short lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0006385
9 femoral bowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002980
10 tibial bowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002982
11 spondyloepimetaphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002651
12 pear-shaped vertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0004566
13 skeletal dysplasia 59 Very frequent (99-80%)
14 delayed skeletal maturation 32 HP:0002750
15 platyspondyly 32 HP:0000926
16 rhizomelia 32 HP:0008905
17 flattened epiphysis 32 HP:0003071
18 flared, irregular rib ends 32 HP:0006603
19 limited elbow extension 32 HP:0001377
20 radial bowing 32 HP:0002986
21 ulnar bowing 32 HP:0003031
22 flared iliac wings 32 HP:0002869
23 waddling gait 32 HP:0002515
24 small epiphyses 32 HP:0010585
25 flared metaphysis 32 HP:0003015
26 irregular sclerotic endplates 32 HP:0008476
27 metaphyseal cupping 32 HP:0003021

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Missouri Type

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Missouri Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Missouri Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Missouri Type:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia, Missouri Type 29 MMP13

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Missouri Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Missouri Type:

41
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Missouri Type

Articles related to Spondyloepimetaphyseal Dysplasia, Missouri Type:

# Title Authors Year
1
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). ( 16167086 )
2005

Variations for Spondyloepimetaphyseal Dysplasia, Missouri Type

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Missouri Type:

75
# Symbol AA change Variation ID SNP ID
1 MMP13 p.Phe75Ser VAR_032753 rs121909497
2 MMP13 p.Phe74Ser VAR_063432 rs121909498
3 MMP13 p.Met91Thr VAR_063433 rs121909499
4 MMP13 p.His232Asn VAR_063434 rs121909500

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Missouri Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MMP13 NM_002427.3(MMP13): c.224T> C (p.Phe75Ser) single nucleotide variant Pathogenic rs121909497 GRCh37 Chromosome 11, 102826119: 102826119
2 MMP13 NM_002427.3(MMP13): c.224T> C (p.Phe75Ser) single nucleotide variant Pathogenic rs121909497 GRCh38 Chromosome 11, 102955390: 102955390
3 MMP13 NM_002427.3(MMP13): c.772dupG (p.Asp258Glyfs) duplication Pathogenic rs797044754 GRCh37 Chromosome 11, 102822768: 102822768
4 MMP13 NM_002427.3(MMP13): c.772dupG (p.Asp258Glyfs) duplication Pathogenic rs797044754 GRCh38 Chromosome 11, 102952039: 102952039

Expression for Spondyloepimetaphyseal Dysplasia, Missouri Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Missouri Type.

Pathways for Spondyloepimetaphyseal Dysplasia, Missouri Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Missouri Type

Sources for Spondyloepimetaphyseal Dysplasia, Missouri Type

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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