MCID: MTP005
MIFTS: 30

Metaphyseal Anadysplasia

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

Aliases & Classifications for Metaphyseal Anadysplasia

MalaCards integrated aliases for Metaphyseal Anadysplasia:

Name: Metaphyseal Anadysplasia 50 56 69
Regressive Metaphyseal Dysplasia 50 56
Early-Onset Regressive Form of Metaphyseal Dysplasia 50
Maroteaux Verloes Stanescu Syndrome 50
Maroteaux-Verloes-Stanescu Syndrome 56
Mad 50

Characteristics:

Orphanet epidemiological data:

56
metaphyseal anadysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:



External Ids:

Orphanet 56 ORPHA1040
MESH via Orphanet 43 C537351
UMLS via Orphanet 70 C0432226
ICD10 via Orphanet 34 Q78.5

Summaries for Metaphyseal Anadysplasia

MalaCards based summary : Metaphyseal Anadysplasia, also known as regressive metaphyseal dysplasia, is related to metaphyseal anadysplasia 2 and spondyloepimetaphyseal dysplasia, missouri type, and has symptoms including joint stiffness, abnormality of the lower limb and abnormality of ulnar metaphysis. An important gene associated with Metaphyseal Anadysplasia is MMP13 (Matrix Metallopeptidase 13), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Affiliated tissues include bone, and related phenotypes are Decreased HIV-LTR-beta-galactosidase protein expression and Decreased Tat-dependent HIV-LTR-beta-galactosidase protein expression

Related Diseases for Metaphyseal Anadysplasia

Graphical network of the top 20 diseases related to Metaphyseal Anadysplasia:



Diseases related to Metaphyseal Anadysplasia

Symptoms & Phenotypes for Metaphyseal Anadysplasia

Human phenotypes related to Metaphyseal Anadysplasia:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
2 abnormality of the lower limb 56 32 hallmark (90%) Very frequent (99-80%) HP:0002814
3 abnormality of ulnar metaphysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004039
4 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 abnormality of epiphysis morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0005930
6 bowing of the long bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0006487
7 aplasia/hypoplasia of the radius 56 32 hallmark (90%) Very frequent (99-80%) HP:0006501
8 abnormality of the metaphyses 56 Very frequent (99-80%)
9 abnormality of the ulna 56 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Metaphyseal Anadysplasia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HIV-LTR-beta-galactosidase protein expression GR00224-A-1 8.96 MMP13 MMP9
2 Decreased Tat-dependent HIV-LTR-beta-galactosidase protein expression GR00224-A-2 8.62 MMP13 MMP9

Drugs & Therapeutics for Metaphyseal Anadysplasia

Search Clinical Trials , NIH Clinical Center for Metaphyseal Anadysplasia

Genetic Tests for Metaphyseal Anadysplasia

Anatomical Context for Metaphyseal Anadysplasia

MalaCards organs/tissues related to Metaphyseal Anadysplasia:

39
Bone

Publications for Metaphyseal Anadysplasia

Articles related to Metaphyseal Anadysplasia:

id Title Authors Year
1
Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing. ( 28342220 )
2017
2
Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. ( 24781753 )
2014
3
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. ( 19615667 )
2009
4
Metaphyseal anadysplasia in two sisters. ( 10382218 )
1999
5
Metaphyseal anadysplasia: evidence of genetic heterogeneity. ( 9916842 )
1999
6
Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia. ( 9799299 )
1998
7
Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course. ( 1867263 )
1991

Variations for Metaphyseal Anadysplasia

Expression for Metaphyseal Anadysplasia

Search GEO for disease gene expression data for Metaphyseal Anadysplasia.

Pathways for Metaphyseal Anadysplasia

GO Terms for Metaphyseal Anadysplasia

Cellular components related to Metaphyseal Anadysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 8.96 MMP13 MMP9
2 extracellular matrix GO:0031012 8.62 MMP13 MMP9

Biological processes related to Metaphyseal Anadysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.16 MMP13 MMP9
2 extracellular matrix disassembly GO:0022617 8.96 MMP13 MMP9
3 collagen catabolic process GO:0030574 8.62 MMP13 MMP9

Molecular functions related to Metaphyseal Anadysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.32 MMP13 MMP9
2 serine-type endopeptidase activity GO:0004252 9.26 MMP13 MMP9
3 metallopeptidase activity GO:0008237 9.16 MMP13 MMP9
4 metalloendopeptidase activity GO:0004222 8.96 MMP13 MMP9
5 collagen binding GO:0005518 8.62 MMP13 MMP9

Sources for Metaphyseal Anadysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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