MANDP2
MCID: MTP014
MIFTS: 22

Metaphyseal Anadysplasia 2 (MANDP2)

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

Aliases & Classifications for Metaphyseal Anadysplasia 2

MalaCards integrated aliases for Metaphyseal Anadysplasia 2:

Name: Metaphyseal Anadysplasia 2 57 72 29 13 6 70
Mandp2 57 72
Anadysplasia, Metaphyseal, Type 2 39

Characteristics:

HPO:

31
metaphyseal anadysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 613073
MeSH 44 D001848
MedGen 41 C2751322
SNOMED-CT via HPO 68 258211005 299331007
UMLS 70 C2751322

Summaries for Metaphyseal Anadysplasia 2

UniProtKB/Swiss-Prot : 72 Metaphyseal anadysplasia 2: 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.

MalaCards based summary : Metaphyseal Anadysplasia 2, also known as mandp2, is related to metaphyseal anadysplasia and aortic aneurysm, familial thoracic 1. An important gene associated with Metaphyseal Anadysplasia 2 is MMP9 (Matrix Metallopeptidase 9). Related phenotypes are short femoral neck and metaphyseal widening

More information from OMIM: 613073

Related Diseases for Metaphyseal Anadysplasia 2

Diseases in the Metaphyseal Anadysplasia family:

Metaphyseal Anadysplasia 2

Diseases related to Metaphyseal Anadysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 metaphyseal anadysplasia 9.6 SLC12A5-AS1 MMP9
2 aortic aneurysm, familial thoracic 1 9.5 SLC12A5-AS1 MMP9

Symptoms & Phenotypes for Metaphyseal Anadysplasia 2

Human phenotypes related to Metaphyseal Anadysplasia 2:

31
# Description HPO Frequency HPO Source Accession
1 short femoral neck 31 HP:0100864
2 metaphyseal widening 31 HP:0003016
3 metaphyseal irregularity 31 HP:0003025
4 bowing of the legs 31 HP:0002979

Clinical features from OMIM®:

613073 (Updated 05-Apr-2021)

Drugs & Therapeutics for Metaphyseal Anadysplasia 2

Search Clinical Trials , NIH Clinical Center for Metaphyseal Anadysplasia 2

Genetic Tests for Metaphyseal Anadysplasia 2

Genetic tests related to Metaphyseal Anadysplasia 2:

# Genetic test Affiliating Genes
1 Metaphyseal Anadysplasia 2 29 MMP9

Anatomical Context for Metaphyseal Anadysplasia 2

Publications for Metaphyseal Anadysplasia 2

Articles related to Metaphyseal Anadysplasia 2:

# Title Authors PMID Year
1
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 57 6
19615667 2009
2
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. 57
24648384 2014
3
Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course. 57
1867263 1991
4
[Metaphyseal chondrodysplasia (metaphyseal dysostosis)--a new type?]. 57
4252978 1970

Variations for Metaphyseal Anadysplasia 2

ClinVar genetic disease variations for Metaphyseal Anadysplasia 2:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMP9 NM_004994.3(MMP9):c.987C>A (p.Cys329Ter) SNV Pathogenic 1030865 GRCh37: 20:44640376-44640376
GRCh38: 20:46011737-46011737
2 MMP9 NM_004994.3(MMP9):c.1420dup (p.Thr474fs) Duplication Pathogenic 998438 GRCh37: 20:44641982-44641983
GRCh38: 20:46013343-46013344
3 MMP9 NM_004994.3(MMP9):c.735del (p.Thr246fs) Deletion Pathogenic 764943 rs768365704 GRCh37: 20:44639866-44639866
GRCh38: 20:46011227-46011227
4 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
5 MMP9 NM_004994.3(MMP9):c.1414C>T (p.Pro472Ser) SNV Uncertain significance 283364 rs148151404 GRCh37: 20:44641977-44641977
GRCh38: 20:46013338-46013338
6 MMP9 NM_004994.3(MMP9):c.1174+14C>T SNV Uncertain significance 338555 rs886056715 GRCh37: 20:44640966-44640966
GRCh38: 20:46012327-46012327
7 MMP9 NM_004994.3(MMP9):c.773C>T (p.Thr258Ile) SNV Uncertain significance 284343 rs41529445 GRCh37: 20:44639905-44639905
GRCh38: 20:46011266-46011266
8 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
9 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
10 MMP9 NM_004994.3(MMP9):c.1284dup (p.Pro429fs) Duplication Uncertain significance 631874 rs769764616 GRCh37: 20:44641171-44641172
GRCh38: 20:46012532-46012533
11 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
12 MMP9 NM_004994.3(MMP9):c.878T>A (p.Ile293Asn) SNV Uncertain significance 338551 rs201975453 GRCh37: 20:44640267-44640267
GRCh38: 20:46011628-46011628
13 MMP9 NM_004994.3(MMP9):c.58G>A (p.Ala20Thr) SNV Uncertain significance 338545 rs886056714 GRCh37: 20:44637623-44637623
GRCh38: 20:46008984-46008984
14 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
15 SLC12A5-AS1 , MMP9 , LOC100128028 NM_004994.3(MMP9):c.*189C>T SNV Uncertain significance 338564 rs886056716 GRCh37: 20:44645196-44645196
GRCh38: 20:46016557-46016557
16 MMP9 NM_004994.3(MMP9):c.906C>A (p.Cys302Ter) SNV Uncertain significance 338552 rs146499495 GRCh37: 20:44640295-44640295
GRCh38: 20:46011656-46011656
17 MMP9 NM_004994.3(MMP9):c.823+2_823+7del Deletion Uncertain significance 632375 rs762254377 GRCh37: 20:44639956-44639961
GRCh38: 20:46011317-46011322
18 MMP9 NM_004994.3(MMP9):c.344A>G (p.Lys115Arg) SNV Uncertain significance 895811 GRCh37: 20:44638710-44638710
GRCh38: 20:46010071-46010071
19 MMP9 NM_004994.3(MMP9):c.451G>A (p.Val151Met) SNV Uncertain significance 895812 GRCh37: 20:44639201-44639201
GRCh38: 20:46010562-46010562
20 MMP9 NM_004994.3(MMP9):c.521-15G>C SNV Uncertain significance 895813 GRCh37: 20:44639546-44639546
GRCh38: 20:46010907-46010907
21 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
22 MMP9 NM_004994.3(MMP9):c.782A>G (p.Asn261Ser) SNV Uncertain significance 896095 GRCh37: 20:44639914-44639914
GRCh38: 20:46011275-46011275
23 MMP9 NM_004994.3(MMP9):c.820G>A (p.Glu274Lys) SNV Uncertain significance 896096 GRCh37: 20:44639952-44639952
GRCh38: 20:46011313-46011313
24 MMP9 NM_004994.3(MMP9):c.886G>A (p.Gly296Ser) SNV Uncertain significance 198179 rs144098289 GRCh37: 20:44640275-44640275
GRCh38: 20:46011636-46011636
25 MMP9 NM_004994.3(MMP9):c.916G>T (p.Gly306Cys) SNV Uncertain significance 896097 GRCh37: 20:44640305-44640305
GRCh38: 20:46011666-46011666
26 MMP9 NM_004994.3(MMP9):c.979G>C (p.Gly327Arg) SNV Uncertain significance 896098 GRCh37: 20:44640368-44640368
GRCh38: 20:46011729-46011729
27 MMP9 NM_004994.3(MMP9):c.1394C>T (p.Pro465Leu) SNV Uncertain significance 897684 GRCh37: 20:44641957-44641957
GRCh38: 20:46013318-46013318
28 MMP9 NM_004994.3(MMP9):c.1404C>T (p.Cys468=) SNV Uncertain significance 897685 GRCh37: 20:44641967-44641967
GRCh38: 20:46013328-46013328
29 MMP9 NM_004994.3(MMP9):c.1532C>T (p.Pro511Leu) SNV Uncertain significance 897686 GRCh37: 20:44642095-44642095
GRCh38: 20:46013456-46013456
30 MMP9 NM_004994.3(MMP9):c.81C>T (p.Thr27=) SNV Uncertain significance 719765 rs45592943 GRCh37: 20:44637646-44637646
GRCh38: 20:46009007-46009007
31 MMP9 NM_004994.3(MMP9):c.139-5C>T SNV Uncertain significance 898779 GRCh37: 20:44638500-44638500
GRCh38: 20:46009861-46009861
32 MMP9 NM_004994.3(MMP9):c.206C>T (p.Pro69Leu) SNV Uncertain significance 898780 GRCh37: 20:44638572-44638572
GRCh38: 20:46009933-46009933
33 MMP9 NM_004994.3(MMP9):c.259G>A (p.Asp87Asn) SNV Uncertain significance 898781 GRCh37: 20:44638625-44638625
GRCh38: 20:46009986-46009986
34 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
35 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
36 MMP9 NM_004994.3(MMP9):c.464C>T (p.Thr155Ile) SNV Uncertain significance 338547 rs143024943 GRCh37: 20:44639214-44639214
GRCh38: 20:46010575-46010575
37 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
38 MMP9 NM_004994.3(MMP9):c.70C>T (p.Arg24Cys) SNV Likely benign 707836 rs144023823 GRCh37: 20:44637635-44637635
GRCh38: 20:46008996-46008996
39 MMP9 NM_004994.3(MMP9):c.59C>T (p.Ala20Val) SNV Likely benign 338546 rs1805088 GRCh37: 20:44637624-44637624
GRCh38: 20:46008985-46008985
40 MMP9 NM_004994.3(MMP9):c.45C>T (p.Gly15=) SNV Benign 338544 rs28763885 GRCh37: 20:44637610-44637610
GRCh38: 20:46008971-46008971
41 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
42 MMP9 NM_004994.3(MMP9):c.649+3G>T SNV Benign 338548 rs2274755 GRCh37: 20:44639692-44639692
GRCh38: 20:46011053-46011053
43 MMP9 NM_004994.3(MMP9):c.840C>T (p.Asp280=) SNV Benign 782929 rs45437897 GRCh37: 20:44640229-44640229
GRCh38: 20:46011590-46011590
44 MMP9 NM_004994.3(MMP9):c.716G>A (p.Arg239His) SNV Benign 338549 rs28763886 GRCh37: 20:44639848-44639848
GRCh38: 20:46011209-46011209
45 MMP9 NM_004994.3(MMP9):c.113A>G (p.Asn38Ser) SNV Benign 708035 rs41427445 GRCh37: 20:44637678-44637678
GRCh38: 20:46009039-46009039
46 MMP9 NM_004994.3(MMP9):c.559C>T (p.Leu187Phe) SNV Benign 773609 rs55789927 GRCh37: 20:44639599-44639599
GRCh38: 20:46010960-46010960
47 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
48 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
49 MMP9 NM_004994.3(MMP9):c.1174+7G>A SNV Benign 338554 rs3918256 GRCh37: 20:44640959-44640959
GRCh38: 20:46012320-46012320
50 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 2

Search GEO for disease gene expression data for Metaphyseal Anadysplasia 2.

Pathways for Metaphyseal Anadysplasia 2

GO Terms for Metaphyseal Anadysplasia 2

Sources for Metaphyseal Anadysplasia 2

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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61 PubMed
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71 UMLS via Orphanet
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