MANDP1
MCID: SPN030
MIFTS: 27

Spondyloepimetaphyseal Dysplasia, Missouri Type (MANDP1)

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

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Missouri Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Missouri Type:

Name: Spondyloepimetaphyseal Dysplasia, Missouri Type 58 12 54 60 30 6 15
Metaphyseal Anadysplasia 1 58 76 13 74
Spondyloepimetaphyseal Dysplasia Type 2 54 60 76
Semd, Missouri Type 58 54 60
Spondyloepimetaphyseal Dysplasia Missouri Type 54 76
Missouri Type of Spondyloepimetaphyseal Dysplasia 54
Spondyloepimetaphyseal Dysplasia Type Missouri 76
Spondylometaepiphyseal Dysplasia Type Missouri 76
Anadysplasia, Metaphyseal, Type 1 41
Semd Missouri Type 54
Semd Type 2 60
Semd-Mo 76
Mandp1 76

Characteristics:

Orphanet epidemiological data:

60
spondyloepimetaphyseal dysplasia, missouri type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Miscellaneous:
waddling gait
improvement of epimetaphyseal changes with age

Inheritance:
autosomal dominant


HPO:

33
spondyloepimetaphyseal dysplasia, missouri type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080030
OMIM 58 602111
MeSH 45 D001848
ICD10 via Orphanet 35 Q77.7
UMLS via Orphanet 75 C1865832
Orphanet 60 ORPHA93356
UMLS 74 C2748495

Summaries for Spondyloepimetaphyseal Dysplasia, Missouri Type

NIH Rare Diseases : 54 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 abnormality of epiphysis morphology and abnormality of the metaphysis

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.

UniProtKB/Swiss-Prot : 76 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.

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 10.2
2 spondyloepiphyseal dysplasia congenita 9.5 MMP13 SEMA3A

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Missouri Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Missouri Type:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
2 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
3 femoral bowing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002980
4 tibial bowing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002982
5 spondyloepimetaphyseal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002651
6 pear-shaped vertebrae 60 33 hallmark (90%) Very frequent (99-80%) HP:0004566
7 osteoarthritis 60 33 frequent (33%) Frequent (79-30%) HP:0002758
8 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
9 genu varum 60 33 frequent (33%) Frequent (79-30%) HP:0002970
10 coxa vara 60 33 frequent (33%) Frequent (79-30%) HP:0002812
11 short lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0006385
12 limitation of joint mobility 60 33 occasional (7.5%) Occasional (29-5%) HP:0001376
13 skeletal dysplasia 60 Very frequent (99-80%)
14 delayed skeletal maturation 33 HP:0002750
15 platyspondyly 33 HP:0000926
16 waddling gait 33 HP:0002515
17 rhizomelia 33 HP:0008905
18 flattened epiphysis 33 HP:0003071
19 flared, irregular rib ends 33 HP:0006603
20 limited elbow extension 33 HP:0001377
21 radial bowing 33 HP:0002986
22 ulnar bowing 33 HP:0003031
23 flared iliac wings 33 HP:0002869
24 small epiphyses 33 HP:0010585
25 flared metaphysis 33 HP:0003015
26 irregular sclerotic endplates 33 HP:0008476
27 metaphyseal cupping 33 HP:0003021

Symptoms via clinical synopsis from OMIM:

58
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

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 30 MMP13

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Missouri Type

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

42
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:

76
# 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.772dupG (p.Asp258Glyfs) duplication Pathogenic rs797044754 GRCh37 Chromosome 11, 102822768: 102822768
2 MMP13 NM_002427.3(MMP13): c.772dupG (p.Asp258Glyfs) duplication Pathogenic rs797044754 GRCh38 Chromosome 11, 102952039: 102952039
3 MMP13 NM_002427.3(MMP13): c.224T> C (p.Phe75Ser) single nucleotide variant Pathogenic rs121909497 GRCh37 Chromosome 11, 102826119: 102826119
4 MMP13 NM_002427.3(MMP13): c.224T> C (p.Phe75Ser) single nucleotide variant Pathogenic rs121909497 GRCh38 Chromosome 11, 102955390: 102955390
5 MMP13 NM_002427.3(MMP13): c.212T> C (p.Met71Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 102826131: 102826131
6 MMP13 NM_002427.3(MMP13): c.212T> C (p.Met71Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 102955402: 102955402

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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