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MAD
MCID: MTP005
MIFTS: 33

Metaphyseal Anadysplasia (MAD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Metaphyseal Anadysplasia

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MalaCards integrated aliases for Metaphyseal Anadysplasia:

Name: Metaphyseal Anadysplasia 53 59 6 73
Regressive Metaphyseal Dysplasia 53 59
Early-Onset Regressive Form of Metaphyseal Dysplasia 53
Maroteaux Verloes Stanescu Syndrome 53
Maroteaux-Verloes-Stanescu Syndrome 59
Mad 53

Characteristics:

Orphanet epidemiological data:

59
metaphyseal anadysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 59 ORPHA1040
MESH via Orphanet 45 C537351
UMLS via Orphanet 74 C0432226
ICD10 via Orphanet 34 Q78.5
SNOMED-CT via HPO 69 84445001 449715001 237836003
UMLS 73 C0432226
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Summaries for Metaphyseal Anadysplasia

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MalaCards based summary : Metaphyseal Anadysplasia, also known as regressive metaphyseal dysplasia, is related to metaphyseal anadysplasia 2 and spondyloepimetaphyseal dysplasia, missouri type. An important gene associated with Metaphyseal Anadysplasia is MMP13 (Matrix Metallopeptidase 13), and among its related pathways/superpathways are Circadian entrainment and Collagen chain trimerization. Affiliated tissues include bone, and related phenotypes are abnormality of epiphysis morphology and bowing of the long bones

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Related Diseases for Metaphyseal Anadysplasia

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Diseases in the Metaphyseal Anadysplasia family:

Metaphyseal Anadysplasia 2

Diseases related to Metaphyseal Anadysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 metaphyseal anadysplasia 2 12.7
2 spondyloepimetaphyseal dysplasia, missouri type 12.1
3 pyle disease 10.4
4 diverticulitis 9.9 MMP13 MMP9
5 inguinal hernia 9.9 MMP13 MMP9
6 aortic aneurysm, familial abdominal, 1 9.8 MMP13 MMP9
7 tooth agenesis 9.8 MMP13 MMP9
8 fundus dystrophy 9.8 MMP13 MMP9
9 arthritis 9.8 MMP13 MMP9
10 squamous cell carcinoma, head and neck 9.8 MMP13 MMP9
11 rheumatoid arthritis 9.7 MMP13 MMP9

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



Diseases related to Metaphyseal Anadysplasia
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Symptoms & Phenotypes for Metaphyseal Anadysplasia

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Human phenotypes related to Metaphyseal Anadysplasia:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
3 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 abnormality of the lower limb 59 32 hallmark (90%) Very frequent (99-80%) HP:0002814
6 aplasia/hypoplasia of the radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0006501
7 abnormality of ulnar metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004039
8 abnormality of the ulna 59 Very frequent (99-80%)
9 abnormality of the metaphysis 59 Very frequent (99-80%)

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

26
# 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
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Drugs & Therapeutics for Metaphyseal Anadysplasia

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Search Clinical Trials , NIH Clinical Center for Metaphyseal Anadysplasia

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Genetic Tests for Metaphyseal Anadysplasia

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Anatomical Context for Metaphyseal Anadysplasia

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MalaCards organs/tissues related to Metaphyseal Anadysplasia:

41
Bone
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Publications for Metaphyseal Anadysplasia

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Articles related to Metaphyseal Anadysplasia:

# Title Authors Year
1
A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia. ( 30439533 )
2018
2
Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing. ( 28342220 )
2017
3
Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. ( 24781753 )
2014
4
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. ( 19615667 )
2009
5
Metaphyseal anadysplasia in two sisters. ( 10382218 )
1999
6
Metaphyseal anadysplasia: evidence of genetic heterogeneity. ( 9916842 )
1999
7
Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia. ( 9799299 )
1998
8
Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course. ( 1867263 )
1991
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Variations for Metaphyseal Anadysplasia

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ClinVar genetic disease variations for Metaphyseal Anadysplasia:

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 MMP9 NM_004994.2(MMP9): c.1721G> C (p.Arg574Pro) single nucleotide variant Benign rs2250889 GRCh37 Chromosome 20, 44642406: 44642406
2 MMP9 NM_004994.2(MMP9): c.1721G> C (p.Arg574Pro) single nucleotide variant Benign rs2250889 GRCh38 Chromosome 20, 46013767: 46013767
3 MMP9 NM_004994.2(MMP9): c.1821A> C (p.Gly607=) single nucleotide variant Benign rs13969 GRCh37 Chromosome 20, 44642833: 44642833
4 MMP9 NM_004994.2(MMP9): c.1821A> C (p.Gly607=) single nucleotide variant Benign rs13969 GRCh38 Chromosome 20, 46014194: 46014194
5 MMP13 NM_002427.3(MMP13): c.*885A> G single nucleotide variant Benign rs1042840 GRCh37 Chromosome 11, 102814110: 102814110
6 MMP13 NM_002427.3(MMP13): c.*885A> G single nucleotide variant Benign rs1042840 GRCh38 Chromosome 11, 102943381: 102943381
7 MMP13 NM_002427.3(MMP13): c.*849dupT duplication Uncertain significance rs886047552 GRCh37 Chromosome 11, 102814146: 102814146
8 MMP13 NM_002427.3(MMP13): c.*849dupT duplication Uncertain significance rs886047552 GRCh38 Chromosome 11, 102943417: 102943417
9 MMP13 NM_002427.3(MMP13): c.*436G> C single nucleotide variant Uncertain significance rs886047555 GRCh37 Chromosome 11, 102814559: 102814559
10 MMP13 NM_002427.3(MMP13): c.*436G> C single nucleotide variant Uncertain significance rs886047555 GRCh38 Chromosome 11, 102943830: 102943830
11 MMP13 NM_002427.3(MMP13): c.*275T> C single nucleotide variant Uncertain significance rs781825443 GRCh37 Chromosome 11, 102814720: 102814720
12 MMP13 NM_002427.3(MMP13): c.*275T> C single nucleotide variant Uncertain significance rs781825443 GRCh38 Chromosome 11, 102943991: 102943991
13 MMP13 NM_002427.3(MMP13): c.1169A> G (p.Asp390Gly) single nucleotide variant Likely benign rs17860568 GRCh37 Chromosome 11, 102818662: 102818662
14 MMP13 NM_002427.3(MMP13): c.1169A> G (p.Asp390Gly) single nucleotide variant Likely benign rs17860568 GRCh38 Chromosome 11, 102947933: 102947933
15 MMP13 NM_002427.3(MMP13): c.138C> T (p.Tyr46=) single nucleotide variant Likely benign rs200537937 GRCh38 Chromosome 11, 102955476: 102955476
16 MMP13 NM_002427.3(MMP13): c.138C> T (p.Tyr46=) single nucleotide variant Likely benign rs200537937 GRCh37 Chromosome 11, 102826205: 102826205
17 MMP13 NM_002427.3(MMP13): c.*1102T> C single nucleotide variant Uncertain significance rs886047550 GRCh37 Chromosome 11, 102813893: 102813893
18 MMP13 NM_002427.3(MMP13): c.*1102T> C single nucleotide variant Uncertain significance rs886047550 GRCh38 Chromosome 11, 102943164: 102943164
19 MMP13 NM_002427.3(MMP13): c.*997dupT duplication Benign rs35477433 GRCh37 Chromosome 11, 102813998: 102813998
20 MMP13 NM_002427.3(MMP13): c.*997dupT duplication Benign rs35477433 GRCh38 Chromosome 11, 102943269: 102943269
21 MMP13 NM_002427.3(MMP13): c.*374_*376dupCAT duplication Uncertain significance rs886047556 GRCh37 Chromosome 11, 102814619: 102814621
22 MMP13 NM_002427.3(MMP13): c.*374_*376dupCAT duplication Uncertain significance rs886047556 GRCh38 Chromosome 11, 102943890: 102943892
23 MMP13 NM_002427.3(MMP13): c.1082A> G (p.Asp361Gly) single nucleotide variant Uncertain significance rs145425594 GRCh37 Chromosome 11, 102818749: 102818749
24 MMP13 NM_002427.3(MMP13): c.1082A> G (p.Asp361Gly) single nucleotide variant Uncertain significance rs145425594 GRCh38 Chromosome 11, 102948020: 102948020
25 MMP13 NM_002427.3(MMP13): c.968C> T (p.Thr323Met) single nucleotide variant Likely benign rs185832993 GRCh37 Chromosome 11, 102819837: 102819837
26 MMP13 NM_002427.3(MMP13): c.968C> T (p.Thr323Met) single nucleotide variant Likely benign rs185832993 GRCh38 Chromosome 11, 102949108: 102949108
27 MMP13 NM_002427.3(MMP13): c.935A> G (p.His312Arg) single nucleotide variant Likely benign rs142601143 GRCh37 Chromosome 11, 102819870: 102819870
28 MMP13 NM_002427.3(MMP13): c.935A> G (p.His312Arg) single nucleotide variant Likely benign rs142601143 GRCh38 Chromosome 11, 102949141: 102949141
29 MMP13 NM_002427.3(MMP13): c.686G> T (p.Gly229Val) single nucleotide variant Uncertain significance rs782723542 GRCh38 Chromosome 11, 102952125: 102952125
30 MMP13 NM_002427.3(MMP13): c.686G> T (p.Gly229Val) single nucleotide variant Uncertain significance rs782723542 GRCh37 Chromosome 11, 102822854: 102822854
31 MMP13 NM_002427.3(MMP13): c.*1007T> C single nucleotide variant Uncertain significance rs886047551 GRCh37 Chromosome 11, 102813988: 102813988
32 MMP13 NM_002427.3(MMP13): c.*1007T> C single nucleotide variant Uncertain significance rs886047551 GRCh38 Chromosome 11, 102943259: 102943259
33 MMP13 NM_002427.3(MMP13): c.*771T> G single nucleotide variant Uncertain significance rs886047553 GRCh37 Chromosome 11, 102814224: 102814224
34 MMP13 NM_002427.3(MMP13): c.*771T> G single nucleotide variant Uncertain significance rs886047553 GRCh38 Chromosome 11, 102943495: 102943495
35 MMP13 NM_002427.3(MMP13): c.*756A> G single nucleotide variant Uncertain significance rs886047554 GRCh37 Chromosome 11, 102814239: 102814239
36 MMP13 NM_002427.3(MMP13): c.*756A> G single nucleotide variant Uncertain significance rs886047554 GRCh38 Chromosome 11, 102943510: 102943510
37 MMP13 NM_002427.3(MMP13): c.*628A> G single nucleotide variant Likely benign rs114428333 GRCh37 Chromosome 11, 102814367: 102814367
38 MMP13 NM_002427.3(MMP13): c.*628A> G single nucleotide variant Likely benign rs114428333 GRCh38 Chromosome 11, 102943638: 102943638
39 MMP13 NM_002427.3(MMP13): c.*426A> G single nucleotide variant Likely benign rs182315436 GRCh37 Chromosome 11, 102814569: 102814569
40 MMP13 NM_002427.3(MMP13): c.*426A> G single nucleotide variant Likely benign rs182315436 GRCh38 Chromosome 11, 102943840: 102943840
41 MMP13 NM_002427.3(MMP13): c.*314T> C single nucleotide variant Likely benign rs17860584 GRCh37 Chromosome 11, 102814681: 102814681
42 MMP13 NM_002427.3(MMP13): c.*314T> C single nucleotide variant Likely benign rs17860584 GRCh38 Chromosome 11, 102943952: 102943952
43 MMP13 NM_002427.3(MMP13): c.*160G> A single nucleotide variant Likely benign rs17860583 GRCh37 Chromosome 11, 102814835: 102814835
44 MMP13 NM_002427.3(MMP13): c.*160G> A single nucleotide variant Likely benign rs17860583 GRCh38 Chromosome 11, 102944106: 102944106
45 MMP13 NM_002427.3(MMP13): c.1123C> T (p.Leu375Phe) single nucleotide variant Uncertain significance rs886047557 GRCh37 Chromosome 11, 102818708: 102818708
46 MMP13 NM_002427.3(MMP13): c.1123C> T (p.Leu375Phe) single nucleotide variant Uncertain significance rs886047557 GRCh38 Chromosome 11, 102947979: 102947979
47 MMP13 NM_002427.3(MMP13): c.1080T> C (p.Tyr360=) single nucleotide variant Likely benign rs61737008 GRCh37 Chromosome 11, 102818751: 102818751
48 MMP13 NM_002427.3(MMP13): c.1080T> C (p.Tyr360=) single nucleotide variant Likely benign rs61737008 GRCh38 Chromosome 11, 102948022: 102948022
49 MMP13 NM_002427.3(MMP13): c.951T> G (p.Asp317Glu) single nucleotide variant Uncertain significance rs367612153 GRCh37 Chromosome 11, 102819854: 102819854
50 MMP13 NM_002427.3(MMP13): c.951T> G (p.Asp317Glu) single nucleotide variant Uncertain significance rs367612153 GRCh38 Chromosome 11, 102949125: 102949125
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Expression for Metaphyseal Anadysplasia

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Search GEO for disease gene expression data for Metaphyseal Anadysplasia.
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Pathways for Metaphyseal Anadysplasia

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Pathways related to Metaphyseal Anadysplasia according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Circadian entrainment 37
Show member pathways
 12.36 MMP13 MMP9
2
Collagen chain trimerization 66
Show member pathways
 12.18 MMP13 MMP9
3
Degradation of the extracellular matrix 66
Show member pathways
 12.09 MMP13 MMP9
4
IL-17 Family Signaling Pathways 65
Show member pathways
 11.74 MMP13 MMP9
5
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 11.58 MMP13 MMP9
6
Adhesion 4
11.46 MMP13 MMP9
7
Matrix Metalloproteinases 1
Show member pathways
 11.32 MMP13 MMP9
8
Angiogenesis (CST) 4
11.21 MMP13 MMP9
9
AGE/RAGE pathway 1
10.98 MMP13 MMP9
10
Endochondral Ossification 1
10.77 MMP13 MMP9
11
Cell adhesion_ECM remodeling 22
10.41 MMP13 MMP9
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GO Terms for Metaphyseal Anadysplasia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 MMP13 MMP9

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

# 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:

# 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
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Sources for Metaphyseal Anadysplasia

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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