MAD
MCID: MTP005
MIFTS: 37

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 IL-17 Family Signaling Pathways and Adhesion. Affiliated tissues include bone, skin and tongue, and 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 (showing 9, show less)
# 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 (showing 1, show less)
# 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

MalaCards organs/tissues related to Metaphyseal Anadysplasia:

40
Bone, Skin, Tongue

Publications for Metaphyseal Anadysplasia

Articles related to Metaphyseal Anadysplasia:

(showing 11, show less)
# Title Authors PMID Year
1
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 6 61
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 (showing 166, show less)
# 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.206C>T (p.Pro69Leu) SNV Uncertain significance 898780 GRCh37: 20:44638572-44638572
GRCh38: 20:46009933-46009933
12 MMP9 NM_004994.3(MMP9):c.81C>T (p.Thr27=) SNV Uncertain significance 719765 rs45592943 GRCh37: 20:44637646-44637646
GRCh38: 20:46009007-46009007
13 MMP9 NM_004994.3(MMP9):c.139-5C>T SNV Uncertain significance 898779 GRCh37: 20:44638500-44638500
GRCh38: 20:46009861-46009861
14 MMP9 NM_004994.3(MMP9):c.259G>A (p.Asp87Asn) SNV Uncertain significance 898781 GRCh37: 20:44638625-44638625
GRCh38: 20:46009986-46009986
15 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
16 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
17 MMP13 NM_002427.4(MMP13):c.492G>C (p.Met164Ile) SNV Uncertain significance 976145 GRCh37: 11:102825206-102825206
GRCh38: 11:102954477-102954477
18 MMP9 NM_004994.3(MMP9):c.886G>A (p.Gly296Ser) SNV Uncertain significance 198179 rs144098289 GRCh37: 20:44640275-44640275
GRCh38: 20:46011636-46011636
19 MMP9 NM_004994.3(MMP9):c.916G>T (p.Gly306Cys) SNV Uncertain significance 896097 GRCh37: 20:44640305-44640305
GRCh38: 20:46011666-46011666
20 MMP9 NM_004994.3(MMP9):c.979G>C (p.Gly327Arg) SNV Uncertain significance 896098 GRCh37: 20:44640368-44640368
GRCh38: 20:46011729-46011729
21 MMP9 NM_004994.3(MMP9):c.1394C>T (p.Pro465Leu) SNV Uncertain significance 897684 GRCh37: 20:44641957-44641957
GRCh38: 20:46013318-46013318
22 MMP9 NM_004994.3(MMP9):c.1404C>T (p.Cys468=) SNV Uncertain significance 897685 GRCh37: 20:44641967-44641967
GRCh38: 20:46013328-46013328
23 MMP9 NM_004994.3(MMP9):c.1414C>T (p.Pro472Ser) SNV Uncertain significance 283364 rs148151404 GRCh37: 20:44641977-44641977
GRCh38: 20:46013338-46013338
24 MMP9 NM_004994.3(MMP9):c.1532C>T (p.Pro511Leu) SNV Uncertain significance 897686 GRCh37: 20:44642095-44642095
GRCh38: 20:46013456-46013456
25 MMP13 NM_002427.4(MMP13):c.*954G>C SNV Uncertain significance 880416 GRCh37: 11:102814041-102814041
GRCh38: 11:102943312-102943312
26 MMP13 NM_002427.4(MMP13):c.*954G>C SNV Uncertain significance 880416 GRCh37: 11:102814041-102814041
GRCh38: 11:102943312-102943312
27 MMP13 NM_002427.4(MMP13):c.*852C>T SNV Uncertain significance 880417 GRCh37: 11:102814143-102814143
GRCh38: 11:102943414-102943414
28 MMP13 NM_002427.4(MMP13):c.*852C>T SNV Uncertain significance 880417 GRCh37: 11:102814143-102814143
GRCh38: 11:102943414-102943414
29 MMP13 NM_002427.4(MMP13):c.1316-15T>C SNV Uncertain significance 880459 GRCh37: 11:102815110-102815110
GRCh38: 11:102944381-102944381
30 MMP13 NM_002427.4(MMP13):c.1316-15T>C SNV Uncertain significance 880459 GRCh37: 11:102815110-102815110
GRCh38: 11:102944381-102944381
31 MMP13 NM_002427.4(MMP13):c.1315+12C>T SNV Uncertain significance 880460 GRCh37: 11:102816363-102816363
GRCh38: 11:102945634-102945634
32 MMP13 NM_002427.4(MMP13):c.756T>C (p.Phe252=) SNV Uncertain significance 880506 GRCh37: 11:102822784-102822784
GRCh38: 11:102952055-102952055
33 MMP9 NM_004994.3(MMP9):c.344A>G (p.Lys115Arg) SNV Uncertain significance 895811 GRCh37: 20:44638710-44638710
GRCh38: 20:46010071-46010071
34 MMP9 NM_004994.3(MMP9):c.451G>A (p.Val151Met) SNV Uncertain significance 895812 GRCh37: 20:44639201-44639201
GRCh38: 20:46010562-46010562
35 MMP9 NM_004994.3(MMP9):c.521-15G>C SNV Uncertain significance 895813 GRCh37: 20:44639546-44639546
GRCh38: 20:46010907-46010907
36 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
37 MMP9 NM_004994.3(MMP9):c.782A>G (p.Asn261Ser) SNV Uncertain significance 896095 GRCh37: 20:44639914-44639914
GRCh38: 20:46011275-46011275
38 MMP9 NM_004994.3(MMP9):c.820G>A (p.Glu274Lys) SNV Uncertain significance 896096 GRCh37: 20:44639952-44639952
GRCh38: 20:46011313-46011313
39 MMP9 NM_004994.3(MMP9):c.773C>T (p.Thr258Ile) SNV Uncertain significance 284343 rs41529445 GRCh37: 20:44639905-44639905
GRCh38: 20:46011266-46011266
40 MMP9 NM_004994.3(MMP9):c.1284dup (p.Pro429fs) Duplication Uncertain significance 631874 rs769764616 GRCh37: 20:44641171-44641172
GRCh38: 20:46012532-46012533
41 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
42 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
43 MMP9 NM_004994.3(MMP9):c.823+2_823+7del Deletion Uncertain significance 632375 rs762254377 GRCh37: 20:44639956-44639961
GRCh38: 20:46011317-46011322
44 MMP13 NM_002427.4(MMP13):c.*1007T>C SNV Uncertain significance 301960 rs886047551 GRCh37: 11:102813988-102813988
GRCh38: 11:102943259-102943259
45 MMP9 NM_004994.3(MMP9):c.906C>A (p.Cys302Ter) SNV Uncertain significance 338552 rs146499495 GRCh37: 20:44640295-44640295
GRCh38: 20:46011656-46011656
46 MMP13 NM_002427.4(MMP13):c.301G>T (p.Val101Leu) SNV Uncertain significance 301990 rs151254531 GRCh37: 11:102826042-102826042
GRCh38: 11:102955313-102955313
47 MMP13 NM_002427.4(MMP13):c.*1219A>C SNV Uncertain significance 301958 rs188511209 GRCh37: 11:102813776-102813776
GRCh38: 11:102943047-102943047
48 MMP13 NM_002427.4(MMP13):c.1315+15T>C SNV Uncertain significance 301975 rs373735518 GRCh37: 11:102816360-102816360
GRCh38: 11:102945631-102945631
49 MMP13 NM_002427.4(MMP13):c.*436G>C SNV Uncertain significance 301967 rs886047555 GRCh37: 11:102814559-102814559
GRCh38: 11:102943830-102943830
50 MMP13 NM_002427.4(MMP13):c.1082A>G (p.Asp361Gly) SNV Uncertain significance 301978 rs145425594 GRCh37: 11:102818749-102818749
GRCh38: 11:102948020-102948020
51 MMP13 NM_002427.4(MMP13):c.997C>T (p.Arg333Cys) SNV Uncertain significance 301980 rs782152104 GRCh37: 11:102819808-102819808
GRCh38: 11:102949079-102949079
52 MMP13 NM_002427.4(MMP13):c.*723A>T SNV Uncertain significance 877656 GRCh37: 11:102814272-102814272
GRCh38: 11:102943543-102943543
53 MMP13 NM_002427.4(MMP13):c.*723A>T SNV Uncertain significance 877656 GRCh37: 11:102814272-102814272
GRCh38: 11:102943543-102943543
54 MMP13 NM_002427.4(MMP13):c.1101C>G (p.Pro367=) SNV Uncertain significance 717251 rs781949882 GRCh37: 11:102818730-102818730
GRCh38: 11:102948001-102948001
55 MMP13 NM_002427.4(MMP13):c.1101C>G (p.Pro367=) SNV Uncertain significance 717251 rs781949882 GRCh37: 11:102818730-102818730
GRCh38: 11:102948001-102948001
56 MMP13 NM_002427.4(MMP13):c.710G>A (p.Gly237Glu) SNV Uncertain significance 877736 GRCh37: 11:102822830-102822830
GRCh38: 11:102952101-102952101
57 MMP13 NM_002427.4(MMP13):c.710G>A (p.Gly237Glu) SNV Uncertain significance 877736 GRCh37: 11:102822830-102822830
GRCh38: 11:102952101-102952101
58 MMP13 NM_002427.4(MMP13):c.438C>T (p.Ser146=) SNV Uncertain significance 196346 rs17860530 GRCh37: 11:102825260-102825260
GRCh38: 11:102954531-102954531
59 MMP13 NM_002427.4(MMP13):c.*1171C>A SNV Uncertain significance 879218 GRCh37: 11:102813824-102813824
GRCh38: 11:102943095-102943095
60 MMP13 NM_002427.4(MMP13):c.*1171C>A SNV Uncertain significance 879218 GRCh37: 11:102813824-102813824
GRCh38: 11:102943095-102943095
61 MMP13 NM_002427.4(MMP13):c.*1052T>C SNV Uncertain significance 879219 GRCh37: 11:102813943-102813943
GRCh38: 11:102943214-102943214
62 MMP13 NM_002427.4(MMP13):c.*1052T>C SNV Uncertain significance 879219 GRCh37: 11:102813943-102813943
GRCh38: 11:102943214-102943214
63 MMP13 NM_002427.4(MMP13):c.*156A>G SNV Uncertain significance 879276 GRCh37: 11:102814839-102814839
GRCh38: 11:102944110-102944110
64 MMP13 NM_002427.4(MMP13):c.*54T>C SNV Uncertain significance 879277 GRCh37: 11:102814941-102814941
GRCh38: 11:102944212-102944212
65 MMP13 NM_002427.4(MMP13):c.*54T>C SNV Uncertain significance 879277 GRCh37: 11:102814941-102814941
GRCh38: 11:102944212-102944212
66 MMP13 NM_002427.4(MMP13):c.*13A>T SNV Uncertain significance 879278 GRCh37: 11:102814982-102814982
GRCh38: 11:102944253-102944253
67 MMP13 NM_002427.4(MMP13):c.818C>G (p.Pro273Arg) SNV Uncertain significance 879318 GRCh37: 11:102820938-102820938
GRCh38: 11:102950209-102950209
68 MMP13 NM_002427.4(MMP13):c.818C>G (p.Pro273Arg) SNV Uncertain significance 879318 GRCh37: 11:102820938-102820938
GRCh38: 11:102950209-102950209
69 MMP9 NM_004994.3(MMP9):c.1174+14C>T SNV Uncertain significance 338555 rs886056715 GRCh37: 20:44640966-44640966
GRCh38: 20:46012327-46012327
70 MMP13 NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys) SNV Uncertain significance 301974 rs142064825 GRCh37: 11:102815039-102815039
GRCh38: 11:102944310-102944310
71 MMP13 NM_002427.4(MMP13):c.*771T>G SNV Uncertain significance 301964 rs886047553 GRCh37: 11:102814224-102814224
GRCh38: 11:102943495-102943495
72 MMP9 NM_004994.3(MMP9):c.464C>T (p.Thr155Ile) SNV Uncertain significance 338547 rs143024943 GRCh37: 20:44639214-44639214
GRCh38: 20:46010575-46010575
73 MMP13 NM_002427.4(MMP13):c.1123C>T (p.Leu375Phe) SNV Uncertain significance 301977 rs886047557 GRCh37: 11:102818708-102818708
GRCh38: 11:102947979-102947979
74 MMP13 NM_002427.4(MMP13):c.*374_*376dup Duplication Uncertain significance 301969 rs886047556 GRCh37: 11:102814618-102814619
GRCh38: 11:102943889-102943890
75 MMP13 NM_002427.4(MMP13):c.*436G>C SNV Uncertain significance 301967 rs886047555 GRCh37: 11:102814559-102814559
GRCh38: 11:102943830-102943830
76 MMP13 NM_002427.4(MMP13):c.997C>T (p.Arg333Cys) SNV Uncertain significance 301980 rs782152104 GRCh37: 11:102819808-102819808
GRCh38: 11:102949079-102949079
77 MMP13 NM_002427.4(MMP13):c.52C>T (p.Arg18Trp) SNV Uncertain significance 301992 rs61733406 GRCh37: 11:102826383-102826383
GRCh38: 11:102955654-102955654
78 MMP13 NM_002427.4(MMP13):c.*1007T>C SNV Uncertain significance 301960 rs886047551 GRCh37: 11:102813988-102813988
GRCh38: 11:102943259-102943259
79 MMP13 NM_002427.4(MMP13):c.935A>G (p.His312Arg) SNV Uncertain significance 301983 rs142601143 GRCh37: 11:102819870-102819870
GRCh38: 11:102949141-102949141
80 MMP13 NM_002427.4(MMP13):c.301G>T (p.Val101Leu) SNV Uncertain significance 301990 rs151254531 GRCh37: 11:102826042-102826042
GRCh38: 11:102955313-102955313
81 MMP13 NM_002427.4(MMP13):c.*1102T>C SNV Uncertain significance 301959 rs886047550 GRCh37: 11:102813893-102813893
GRCh38: 11:102943164-102943164
82 MMP13 NM_002427.4(MMP13):c.951T>G (p.Asp317Glu) SNV Uncertain significance 301982 rs367612153 GRCh37: 11:102819854-102819854
GRCh38: 11:102949125-102949125
83 MMP13 NM_002427.4(MMP13):c.*160G>A SNV Uncertain significance 301973 rs17860583 GRCh37: 11:102814835-102814835
GRCh38: 11:102944106-102944106
84 MMP13 NM_002427.4(MMP13):c.*756A>G SNV Uncertain significance 301965 rs886047554 GRCh37: 11:102814239-102814239
GRCh38: 11:102943510-102943510
85 MMP13 NM_002427.4(MMP13):c.*849dup Duplication Uncertain significance 301963 rs886047552 GRCh37: 11:102814145-102814146
GRCh38: 11:102943416-102943417
86 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.2042G>A (p.Arg681His) SNV Uncertain significance 338560 rs774687719 GRCh37: 20:44644925-44644925
GRCh38: 20:46016286-46016286
87 MMP13 NM_002427.4(MMP13):c.686G>T (p.Gly229Val) SNV Uncertain significance 301988 rs782723542 GRCh37: 11:102822854-102822854
GRCh38: 11:102952125-102952125
88 MMP9 NM_004994.3(MMP9):c.878T>A (p.Ile293Asn) SNV Uncertain significance 338551 rs201975453 GRCh37: 20:44640267-44640267
GRCh38: 20:46011628-46011628
89 MMP13 NM_002427.4(MMP13):c.*264C>T SNV Uncertain significance 301972 rs555759372 GRCh37: 11:102814731-102814731
GRCh38: 11:102944002-102944002
90 MMP13 NM_002427.4(MMP13):c.1082A>G (p.Asp361Gly) SNV Uncertain significance 301978 rs145425594 GRCh37: 11:102818749-102818749
GRCh38: 11:102948020-102948020
91 MMP9 NM_004994.3(MMP9):c.58G>A (p.Ala20Thr) SNV Uncertain significance 338545 rs886056714 GRCh37: 20:44637623-44637623
GRCh38: 20:46008984-46008984
92 MMP13 NM_002427.4(MMP13):c.138C>T (p.Tyr46=) SNV Uncertain significance 301991 rs200537937 GRCh37: 11:102826205-102826205
GRCh38: 11:102955476-102955476
93 MMP13 NM_002427.4(MMP13):c.*1102T>C SNV Uncertain significance 301959 rs886047550 GRCh37: 11:102813893-102813893
GRCh38: 11:102943164-102943164
94 MMP13 NM_002427.4(MMP13):c.509A>C (p.Lys170Thr) SNV Uncertain significance 301989 rs145243532 GRCh37: 11:102825189-102825189
GRCh38: 11:102954460-102954460
95 MMP13 NM_002427.4(MMP13):c.*264C>T SNV Uncertain significance 301972 rs555759372 GRCh37: 11:102814731-102814731
GRCh38: 11:102944002-102944002
96 MMP13 NM_002427.4(MMP13):c.*771T>G SNV Uncertain significance 301964 rs886047553 GRCh37: 11:102814224-102814224
GRCh38: 11:102943495-102943495
97 MMP13 NM_002427.4(MMP13):c.*275T>C SNV Uncertain significance 301971 rs781825443 GRCh37: 11:102814720-102814720
GRCh38: 11:102943991-102943991
98 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.1671C>A (p.Ala557=) SNV Uncertain significance 338557 rs200866285 GRCh37: 20:44642356-44642356
GRCh38: 20:46013717-46013717
99 MMP13 NM_002427.4(MMP13):c.*756A>G SNV Uncertain significance 301965 rs886047554 GRCh37: 11:102814239-102814239
GRCh38: 11:102943510-102943510
100 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.*189C>T SNV Uncertain significance 338564 rs886056716 GRCh37: 20:44645196-44645196
GRCh38: 20:46016557-46016557
101 MMP13 NM_002427.4(MMP13):c.686G>T (p.Gly229Val) SNV Uncertain significance 301988 rs782723542 GRCh37: 11:102822854-102822854
GRCh38: 11:102952125-102952125
102 MMP13 NM_002427.4(MMP13):c.1123C>T (p.Leu375Phe) SNV Uncertain significance 301977 rs886047557 GRCh37: 11:102818708-102818708
GRCh38: 11:102947979-102947979
103 MMP13 NM_002427.4(MMP13):c.968C>T (p.Thr323Met) SNV Uncertain significance 301981 rs185832993 GRCh37: 11:102819837-102819837
GRCh38: 11:102949108-102949108
104 MMP13 NM_002427.4(MMP13):c.*275T>C SNV Uncertain significance 301971 rs781825443 GRCh37: 11:102814720-102814720
GRCh38: 11:102943991-102943991
105 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser) SNV Likely benign 338558 rs201280938 GRCh37: 20:44642903-44642903
GRCh38: 20:46014264-46014264
106 MMP13 NM_002427.4(MMP13):c.770A>T (p.Asp257Val) SNV Likely benign 301987 rs140993310 GRCh37: 11:102822770-102822770
GRCh38: 11:102952041-102952041
107 MMP9 NM_004994.3(MMP9):c.59C>T (p.Ala20Val) SNV Likely benign 338546 rs1805088 GRCh37: 20:44637624-44637624
GRCh38: 20:46008985-46008985
108 MMP13 NM_002427.4(MMP13):c.951T>G (p.Asp317Glu) SNV Likely benign 301982 rs367612153 GRCh37: 11:102819854-102819854
GRCh38: 11:102949125-102949125
109 MMP13 NM_002427.4(MMP13):c.*628A>G SNV Likely benign 301966 rs114428333 GRCh37: 11:102814367-102814367
GRCh38: 11:102943638-102943638
110 MMP13 NM_002427.4(MMP13):c.1169A>G (p.Asp390Gly) SNV Likely benign 301976 rs17860568 GRCh37: 11:102818662-102818662
GRCh38: 11:102947933-102947933
111 MMP13 NM_002427.4(MMP13):c.770A>T (p.Asp257Val) SNV Likely benign 301987 rs140993310 GRCh37: 11:102822770-102822770
GRCh38: 11:102952041-102952041
112 MMP13 NM_002427.4(MMP13):c.1080T>C (p.Tyr360=) SNV Likely benign 301979 rs61737008 GRCh37: 11:102818751-102818751
GRCh38: 11:102948022-102948022
113 MMP13 NM_002427.4(MMP13):c.799+7C>T SNV Likely benign 301986 rs72987505 GRCh37: 11:102822734-102822734
GRCh38: 11:102952005-102952005
114 MMP13 NM_002427.4(MMP13):c.472G>A (p.Asp158Asn) SNV Likely benign 877737 GRCh37: 11:102825226-102825226
GRCh38: 11:102954497-102954497
115 MMP13 NM_002427.4(MMP13):c.*426A>G SNV Likely benign 301968 rs182315436 GRCh37: 11:102814569-102814569
GRCh38: 11:102943840-102943840
116 MMP13 NM_002427.4(MMP13):c.1315+12C>T SNV Likely benign 880460 GRCh37: 11:102816363-102816363
GRCh38: 11:102945634-102945634
117 MMP9 NM_004994.3(MMP9):c.70C>T (p.Arg24Cys) SNV Likely benign 707836 rs144023823 GRCh37: 20:44637635-44637635
GRCh38: 20:46008996-46008996
118 MMP13 NM_002427.4(MMP13):c.23C>T (p.Ala8Val) SNV Likely benign 879360 GRCh37: 11:102826412-102826412
GRCh38: 11:102955683-102955683
119 MMP9 NM_004994.3(MMP9):c.113A>G (p.Asn38Ser) SNV Benign 708035 rs41427445 GRCh37: 20:44637678-44637678
GRCh38: 20:46009039-46009039
120 MMP13 NM_002427.4(MMP13):c.756T>C (p.Phe252=) SNV Benign 880506 GRCh37: 11:102822784-102822784
GRCh38: 11:102952055-102952055
121 MMP13 NM_002427.4(MMP13):c.741C>T (p.Thr247=) SNV Benign 880507 GRCh37: 11:102822799-102822799
GRCh38: 11:102952070-102952070
122 MMP13 NM_002427.4(MMP13):c.741C>T (p.Thr247=) SNV Benign 880507 GRCh37: 11:102822799-102822799
GRCh38: 11:102952070-102952070
123 MMP9 NM_004994.3(MMP9):c.840C>T (p.Asp280=) SNV Benign 782929 rs45437897 GRCh37: 20:44640229-44640229
GRCh38: 20:46011590-46011590
124 MMP9 NM_004994.3(MMP9):c.559C>T (p.Leu187Phe) SNV Benign 773609 rs55789927 GRCh37: 20:44639599-44639599
GRCh38: 20:46010960-46010960
125 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.2022C>T (p.Cys674=) SNV Benign 732688 rs1802909 GRCh37: 20:44644905-44644905
GRCh38: 20:46016266-46016266
126 MMP13 NM_002427.4(MMP13):c.138C>T (p.Tyr46=) SNV Benign 301991 rs200537937 GRCh37: 11:102826205-102826205
GRCh38: 11:102955476-102955476
127 MMP9 NM_004994.3(MMP9):c.649+3G>T SNV Benign 338548 rs2274755 GRCh37: 20:44639692-44639692
GRCh38: 20:46011053-46011053
128 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.1721G>C (p.Arg574Pro) SNV Benign 282093 rs2250889 GRCh37: 20:44642406-44642406
GRCh38: 20:46013767-46013767
129 MMP13 NM_002427.4(MMP13):c.438C>T (p.Ser146=) SNV Benign 196346 rs17860530 GRCh37: 11:102825260-102825260
GRCh38: 11:102954531-102954531
130 MMP13 NM_002427.4(MMP13):c.*13A>T SNV Benign 879278 GRCh37: 11:102814982-102814982
GRCh38: 11:102944253-102944253
131 MMP13 NM_002427.4(MMP13):c.23C>T (p.Ala8Val) SNV Benign 879360 GRCh37: 11:102826412-102826412
GRCh38: 11:102955683-102955683
132 MMP13 NM_002427.4(MMP13):c.*156A>G SNV Benign 879276 GRCh37: 11:102814839-102814839
GRCh38: 11:102944110-102944110
133 MMP13 NM_002427.4(MMP13):c.472G>A (p.Asp158Asn) SNV Benign 877737 GRCh37: 11:102825226-102825226
GRCh38: 11:102954497-102954497
134 MMP13 NM_002427.4(MMP13):c.800-9C>T SNV Benign 301984 rs17860556 GRCh37: 11:102820965-102820965
GRCh38: 11:102950236-102950236
135 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.2003G>A (p.Arg668Gln) SNV Benign 338559 rs17577 GRCh37: 20:44643111-44643111
GRCh38: 20:46014472-46014472
136 MMP13 NM_002427.4(MMP13):c.935A>G (p.His312Arg) SNV Benign 301983 rs142601143 GRCh37: 11:102819870-102819870
GRCh38: 11:102949141-102949141
137 MMP13 NM_002427.4(MMP13):c.509A>C (p.Lys170Thr) SNV Benign 301989 rs145243532 GRCh37: 11:102825189-102825189
GRCh38: 11:102954460-102954460
138 MMP13 NM_002427.4(MMP13):c.*160G>A SNV Benign 301973 rs17860583 GRCh37: 11:102814835-102814835
GRCh38: 11:102944106-102944106
139 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.*3C>T SNV Benign 338562 rs20544 GRCh37: 20:44645010-44645010
GRCh38: 20:46016371-46016371
140 MMP9 NM_004994.3(MMP9):c.45C>T (p.Gly15=) SNV Benign 338544 rs28763885 GRCh37: 20:44637610-44637610
GRCh38: 20:46008971-46008971
141 MMP9 NM_004994.3(MMP9):c.836A>G (p.Gln279Arg) SNV Benign 338550 rs17576 GRCh37: 20:44640225-44640225
GRCh38: 20:46011586-46011586
142 MMP9 NM_004994.3(MMP9):c.997+5C>T SNV Benign 338553 rs3918254 GRCh37: 20:44640391-44640391
GRCh38: 20:46011752-46011752
143 MMP9 NM_004994.3(MMP9):c.1331-11T>A SNV Benign 338556 rs3918257 GRCh37: 20:44641883-44641883
GRCh38: 20:46013244-46013244
144 MMP13 NM_002427.4(MMP13):c.799+7C>T SNV Benign 301986 rs72987505 GRCh37: 11:102822734-102822734
GRCh38: 11:102952005-102952005
145 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.1821A>C (p.Gly607=) SNV Benign 285363 rs13969 GRCh37: 20:44642833-44642833
GRCh38: 20:46014194-46014194
146 MMP13 NM_002427.4(MMP13):c.799+8G>A SNV Benign 301985 rs3819089 GRCh37: 11:102822733-102822733
GRCh38: 11:102952004-102952004
147 MMP13 NM_002427.4(MMP13):c.1169A>G (p.Asp390Gly) SNV Benign 301976 rs17860568 GRCh37: 11:102818662-102818662
GRCh38: 11:102947933-102947933
148 MMP13 NM_002427.4(MMP13):c.1315+15T>C SNV Benign 301975 rs373735518 GRCh37: 11:102816360-102816360
GRCh38: 11:102945631-102945631
149 MMP13 NM_002427.4(MMP13):c.*628A>G SNV Benign 301966 rs114428333 GRCh37: 11:102814367-102814367
GRCh38: 11:102943638-102943638
150 MMP13 NM_002427.4(MMP13):c.*1219A>C SNV Benign 301958 rs188511209 GRCh37: 11:102813776-102813776
GRCh38: 11:102943047-102943047
151 MMP13 NM_002427.4(MMP13):c.968C>T (p.Thr323Met) SNV Benign 301981 rs185832993 GRCh37: 11:102819837-102819837
GRCh38: 11:102949108-102949108
152 MMP9 NM_004994.3(MMP9):c.1174+7G>A SNV Benign 338554 rs3918256 GRCh37: 20:44640959-44640959
GRCh38: 20:46012320-46012320
153 MMP13 NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys) SNV Benign 301974 rs142064825 GRCh37: 11:102815039-102815039
GRCh38: 11:102944310-102944310
154 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.2082G>A (p.Val694=) SNV Benign 338561 rs13925 GRCh37: 20:44644965-44644965
GRCh38: 20:46016326-46016326
155 MMP13 NM_002427.4(MMP13):c.799+8G>A SNV Benign 301985 rs3819089 GRCh37: 11:102822733-102822733
GRCh38: 11:102952004-102952004
156 MMP13 NM_002427.4(MMP13):c.*314T>C SNV Benign 301970 rs17860584 GRCh37: 11:102814681-102814681
GRCh38: 11:102943952-102943952
157 MMP9 NM_004994.3(MMP9):c.716G>A (p.Arg239His) SNV Benign 338549 rs28763886 GRCh37: 20:44639848-44639848
GRCh38: 20:46011209-46011209
158 MMP13 NM_002427.4(MMP13):c.*885A>G SNV Benign 301962 rs1042840 GRCh37: 11:102814110-102814110
GRCh38: 11:102943381-102943381
159 MMP13 NM_002427.4(MMP13):c.52C>T (p.Arg18Trp) SNV Benign 301992 rs61733406 GRCh37: 11:102826383-102826383
GRCh38: 11:102955654-102955654
160 MMP13 NM_002427.4(MMP13):c.*997dup Duplication Benign 301961 rs35477433 GRCh37: 11:102813997-102813998
GRCh38: 11:102943268-102943269
161 MMP13 NM_002427.4(MMP13):c.800-9C>T SNV Benign 301984 rs17860556 GRCh37: 11:102820965-102820965
GRCh38: 11:102950236-102950236
162 MMP13 NM_002427.4(MMP13):c.*426A>G SNV Benign 301968 rs182315436 GRCh37: 11:102814569-102814569
GRCh38: 11:102943840-102943840
163 MMP13 NM_002427.4(MMP13):c.*314T>C SNV Benign 301970 rs17860584 GRCh37: 11:102814681-102814681
GRCh38: 11:102943952-102943952
164 MMP13 NM_002427.4(MMP13):c.*885A>G SNV Benign 301962 rs1042840 GRCh37: 11:102814110-102814110
GRCh38: 11:102943381-102943381
165 MMP13 NM_002427.4(MMP13):c.1080T>C (p.Tyr360=) SNV Benign 301979 rs61737008 GRCh37: 11:102818751-102818751
GRCh38: 11:102948022-102948022
166 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.*146T>C SNV Benign 338563 rs9509 GRCh37: 20:44645153-44645153
GRCh38: 20:46016514-46016514

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:

(showing 7, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 MMP9 MMP13
2 11.46 MMP9 MMP13
3
Show member pathways
11.32 MMP9 MMP13
4 11.21 MMP9 MMP13
5 10.98 MMP9 MMP13
6 10.77 MMP9 MMP13
7 10.41 MMP9 MMP13

GO Terms for Metaphyseal Anadysplasia

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

(showing 1, show less)
# 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:

(showing 4, show less)
# 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:

(showing 4, show less)
# 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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