MAD
MCID: MTP005
MIFTS: 35

Metaphyseal Anadysplasia (MAD)

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

Aliases & Classifications for Metaphyseal Anadysplasia

MalaCards integrated aliases for Metaphyseal Anadysplasia:

Name: Metaphyseal Anadysplasia 20 58 29 6 70
Regressive Metaphyseal Dysplasia 20 58
Early-Onset Regressive Form of Metaphyseal Dysplasia 20
Maroteaux Verloes Stanescu Syndrome 20
Maroteaux-Verloes-Stanescu Syndrome 58
Mad 20

Characteristics:

Orphanet epidemiological data:

58
metaphyseal anadysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 C537351
ICD10 via Orphanet 33 Q78.5
UMLS via Orphanet 71 C0432226
Orphanet 58 ORPHA1040
SNOMED-CT via HPO 68 237836003 449715001 84445001
UMLS 70 C0432226

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. An important gene associated with Metaphyseal Anadysplasia is MMP13 (Matrix Metallopeptidase 13), and among its related pathways/superpathways are Relaxin signaling pathway and IL-17 Family Signaling Pathways. Related phenotypes are bowing of the long bones and joint stiffness

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:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
5 abnormality of the lower limb 58 31 hallmark (90%) Very frequent (99-80%) HP:0002814
6 aplasia/hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0006501
7 abnormality of ulnar metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004039
8 abnormality of the ulna 58 Very frequent (99-80%)
9 abnormality of the metaphysis 58 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 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

Genetic tests related to Metaphyseal Anadysplasia:

# Genetic test Affiliating Genes
1 Metaphyseal Anadysplasia 29

Anatomical Context for Metaphyseal Anadysplasia

Publications for Metaphyseal Anadysplasia

Articles related to Metaphyseal Anadysplasia:

(show all 11)
# Title Authors PMID Year
1
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 61 6
19615667 2009
2
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). 6
16167086 2005
3
Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature. 6
8412645 1993
4
A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia. 61
30439533 2019
5
Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing. 61
28342220 2017
6
Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. 61
24781753 2015
7
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. 61
24648384 2014
8
Metaphyseal anadysplasia in two sisters. 61
10382218 1999
9
Metaphyseal anadysplasia: evidence of genetic heterogeneity. 61
9916842 1999
10
Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia. 61
9799299 1998
11
Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course. 61
1867263 1991

Variations for Metaphyseal Anadysplasia

ClinVar genetic disease variations for Metaphyseal Anadysplasia:

6 (show top 50) (show all 166)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMP13 NM_002427.4(MMP13):c.224T>C (p.Phe75Ser) SNV Pathogenic 9443 rs121909497 GRCh37: 11:102826119-102826119
GRCh38: 11:102955390-102955390
2 MMP13 NM_002427.4(MMP13):c.212T>C (p.Met71Thr) SNV Pathogenic 560880 rs1565256477 GRCh37: 11:102826131-102826131
GRCh38: 11:102955402-102955402
3 MMP13 NM_002427.4(MMP13):c.703del (p.Asp235fs) Deletion Pathogenic 1030552 GRCh37: 11:102822837-102822837
GRCh38: 11:102952108-102952108
4 MMP9 NM_004994.3(MMP9):c.987C>A (p.Cys329Ter) SNV Pathogenic 1030865 GRCh37: 20:44640376-44640376
GRCh38: 20:46011737-46011737
5 MMP9 NM_004994.3(MMP9):c.1420dup (p.Thr474fs) Duplication Pathogenic 998438 GRCh37: 20:44641982-44641983
GRCh38: 20:46013343-46013344
6 MMP9 NM_004994.3(MMP9):c.735del (p.Thr246fs) Deletion Pathogenic 764943 rs768365704 GRCh37: 20:44639866-44639866
GRCh38: 20:46011227-46011227
7 MMP13 NM_002427.4(MMP13):c.1052-2A>C SNV Pathogenic 373391 rs1057518391 GRCh37: 11:102818781-102818781
GRCh38: 11:102948052-102948052
8 MMP13 NM_002427.4(MMP13):c.1A>T (p.Met1Leu) SNV Pathogenic 1033916 GRCh37: 11:102826434-102826434
GRCh38: 11:102955705-102955705
9 MMP13 NM_002427.4(MMP13):c.223T>C (p.Phe75Leu) SNV Likely pathogenic 998000 GRCh37: 11:102826120-102826120
GRCh38: 11:102955391-102955391
10 MMP9 NM_004994.3(MMP9):c.2T>A (p.Met1Lys) SNV Conflicting interpretations of pathogenicity 17107 rs121434556 GRCh37: 20:44637567-44637567
GRCh38: 20:46008928-46008928
11 MMP9 NM_004994.3(MMP9):c.1414C>T (p.Pro472Ser) SNV Uncertain significance 283364 rs148151404 GRCh37: 20:44641977-44641977
GRCh38: 20:46013338-46013338
12 MMP13 NM_002427.4(MMP13):c.935A>G (p.His312Arg) SNV Uncertain significance 301983 rs142601143 GRCh37: 11:102819870-102819870
GRCh38: 11:102949141-102949141
13 MMP13 NM_002427.4(MMP13):c.301G>T (p.Val101Leu) SNV Uncertain significance 301990 rs151254531 GRCh37: 11:102826042-102826042
GRCh38: 11:102955313-102955313
14 MMP13 NM_002427.4(MMP13):c.301G>T (p.Val101Leu) SNV Uncertain significance 301990 rs151254531 GRCh37: 11:102826042-102826042
GRCh38: 11:102955313-102955313
15 MMP9 NM_004994.3(MMP9):c.139-5C>T SNV Uncertain significance 898779 GRCh37: 20:44638500-44638500
GRCh38: 20:46009861-46009861
16 MMP9 NM_004994.3(MMP9):c.206C>T (p.Pro69Leu) SNV Uncertain significance 898780 GRCh37: 20:44638572-44638572
GRCh38: 20:46009933-46009933
17 MMP9 NM_004994.3(MMP9):c.259G>A (p.Asp87Asn) SNV Uncertain significance 898781 GRCh37: 20:44638625-44638625
GRCh38: 20:46009986-46009986
18 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.1906G>C (p.Asp636His) SNV Uncertain significance 898845 GRCh37: 20:44643014-44643014
GRCh38: 20:46014375-46014375
19 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.1925T>C (p.Val642Ala) SNV Uncertain significance 898846 GRCh37: 20:44643033-44643033
GRCh38: 20:46014394-46014394
20 MMP13 NM_002427.4(MMP13):c.492G>C (p.Met164Ile) SNV Uncertain significance 976145 GRCh37: 11:102825206-102825206
GRCh38: 11:102954477-102954477
21 MMP9 NM_004994.3(MMP9):c.773C>T (p.Thr258Ile) SNV Uncertain significance 284343 rs41529445 GRCh37: 20:44639905-44639905
GRCh38: 20:46011266-46011266
22 MMP9 NM_004994.3(MMP9):c.464C>T (p.Thr155Ile) SNV Uncertain significance 338547 rs143024943 GRCh37: 20:44639214-44639214
GRCh38: 20:46010575-46010575
23 MMP9 NM_004994.3(MMP9):c.344A>G (p.Lys115Arg) SNV Uncertain significance 895811 GRCh37: 20:44638710-44638710
GRCh38: 20:46010071-46010071
24 MMP9 NM_004994.3(MMP9):c.451G>A (p.Val151Met) SNV Uncertain significance 895812 GRCh37: 20:44639201-44639201
GRCh38: 20:46010562-46010562
25 MMP9 NM_004994.3(MMP9):c.521-15G>C SNV Uncertain significance 895813 GRCh37: 20:44639546-44639546
GRCh38: 20:46010907-46010907
26 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.2071G>A (p.Val691Met) SNV Uncertain significance 895884 GRCh37: 20:44644954-44644954
GRCh38: 20:46016315-46016315
27 MMP9 NM_004994.3(MMP9):c.782A>G (p.Asn261Ser) SNV Uncertain significance 896095 GRCh37: 20:44639914-44639914
GRCh38: 20:46011275-46011275
28 MMP9 NM_004994.3(MMP9):c.820G>A (p.Glu274Lys) SNV Uncertain significance 896096 GRCh37: 20:44639952-44639952
GRCh38: 20:46011313-46011313
29 MMP9 NM_004994.3(MMP9):c.886G>A (p.Gly296Ser) SNV Uncertain significance 198179 rs144098289 GRCh37: 20:44640275-44640275
GRCh38: 20:46011636-46011636
30 MMP9 NM_004994.3(MMP9):c.916G>T (p.Gly306Cys) SNV Uncertain significance 896097 GRCh37: 20:44640305-44640305
GRCh38: 20:46011666-46011666
31 MMP9 NM_004994.3(MMP9):c.979G>C (p.Gly327Arg) SNV Uncertain significance 896098 GRCh37: 20:44640368-44640368
GRCh38: 20:46011729-46011729
32 MMP9 NM_004994.3(MMP9):c.1394C>T (p.Pro465Leu) SNV Uncertain significance 897684 GRCh37: 20:44641957-44641957
GRCh38: 20:46013318-46013318
33 MMP9 NM_004994.3(MMP9):c.1404C>T (p.Cys468=) SNV Uncertain significance 897685 GRCh37: 20:44641967-44641967
GRCh38: 20:46013328-46013328
34 MMP9 NM_004994.3(MMP9):c.1532C>T (p.Pro511Leu) SNV Uncertain significance 897686 GRCh37: 20:44642095-44642095
GRCh38: 20:46013456-46013456
35 MMP13 NM_002427.4(MMP13):c.*54T>C SNV Uncertain significance 879277 GRCh37: 11:102814941-102814941
GRCh38: 11:102944212-102944212
36 MMP13 NM_002427.4(MMP13):c.*54T>C SNV Uncertain significance 879277 GRCh37: 11:102814941-102814941
GRCh38: 11:102944212-102944212
37 MMP9 NM_004994.3(MMP9):c.81C>T (p.Thr27=) SNV Uncertain significance 719765 rs45592943 GRCh37: 20:44637646-44637646
GRCh38: 20:46009007-46009007
38 MMP9 NM_004994.3(MMP9):c.1284dup (p.Pro429fs) Duplication Uncertain significance 631874 rs769764616 GRCh37: 20:44641171-44641172
GRCh38: 20:46012532-46012533
39 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.1679G>A (p.Trp560Ter) SNV Uncertain significance 631875 rs138685704 GRCh37: 20:44642364-44642364
GRCh38: 20:46013725-46013725
40 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.1764G>A (p.Trp588Ter) SNV Uncertain significance 631876 rs200746714 GRCh37: 20:44642776-44642776
GRCh38: 20:46014137-46014137
41 MMP9 NM_004994.3(MMP9):c.823+2_823+7del Deletion Uncertain significance 632375 rs762254377 GRCh37: 20:44639956-44639961
GRCh38: 20:46011317-46011322
42 MMP13 NM_002427.4(MMP13):c.*1007T>C SNV Uncertain significance 301960 rs886047551 GRCh37: 11:102813988-102813988
GRCh38: 11:102943259-102943259
43 MMP9 NM_004994.3(MMP9):c.906C>A (p.Cys302Ter) SNV Uncertain significance 338552 rs146499495 GRCh37: 20:44640295-44640295
GRCh38: 20:46011656-46011656
44 MMP13 NM_002427.4(MMP13):c.*1219A>C SNV Uncertain significance 301958 rs188511209 GRCh37: 11:102813776-102813776
GRCh38: 11:102943047-102943047
45 MMP13 NM_002427.4(MMP13):c.*723A>T SNV Uncertain significance 877656 GRCh37: 11:102814272-102814272
GRCh38: 11:102943543-102943543
46 MMP13 NM_002427.4(MMP13):c.*723A>T SNV Uncertain significance 877656 GRCh37: 11:102814272-102814272
GRCh38: 11:102943543-102943543
47 MMP13 NM_002427.4(MMP13):c.1101C>G (p.Pro367=) SNV Uncertain significance 717251 rs781949882 GRCh37: 11:102818730-102818730
GRCh38: 11:102948001-102948001
48 MMP13 NM_002427.4(MMP13):c.1101C>G (p.Pro367=) SNV Uncertain significance 717251 rs781949882 GRCh37: 11:102818730-102818730
GRCh38: 11:102948001-102948001
49 MMP13 NM_002427.4(MMP13):c.710G>A (p.Gly237Glu) SNV Uncertain significance 877736 GRCh37: 11:102822830-102822830
GRCh38: 11:102952101-102952101
50 MMP13 NM_002427.4(MMP13):c.710G>A (p.Gly237Glu) SNV Uncertain significance 877736 GRCh37: 11:102822830-102822830
GRCh38: 11:102952101-102952101

Expression for Metaphyseal Anadysplasia

Search GEO for disease gene expression data for Metaphyseal Anadysplasia.

Pathways for Metaphyseal Anadysplasia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.03 MMP9 MMP13
2
Show member pathways
11.74 MMP9 MMP13
3 11.46 MMP9 MMP13
4
Show member pathways
11.32 MMP9 MMP13
5 11.21 MMP9 MMP13
6 10.98 MMP9 MMP13
7 10.77 MMP9 MMP13
8 10.41 MMP9 MMP13

GO Terms for Metaphyseal Anadysplasia

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 MMP9 MMP13

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.26 MMP9 MMP13
2 extracellular matrix disassembly GO:0022617 9.16 MMP9 MMP13
3 collagen catabolic process GO:0030574 8.96 MMP9 MMP13
4 response to amyloid-beta GO:1904645 8.62 MMP9 MMP13

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

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 9.26 MMP9 MMP13
2 metalloendopeptidase activity GO:0004222 9.16 MMP9 MMP13
3 endopeptidase activity GO:0004175 8.96 MMP9 MMP13
4 collagen binding GO:0005518 8.62 MMP9 MMP13

Sources for Metaphyseal Anadysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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