MANDP2
MCID: MTP014
MIFTS: 21

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 56 73 29 13 6 71
Mandp2 56 73
Anadysplasia, Metaphyseal, Type 2 39

Characteristics:

HPO:

31
metaphyseal anadysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 613073
MeSH 43 D001848
MedGen 41 C2751322
SNOMED-CT via HPO 68 258211005 299331007
UMLS 71 C2751322

Summaries for Metaphyseal Anadysplasia 2

UniProtKB/Swiss-Prot : 73 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). Affiliated tissues include bone, and related phenotypes are bowing of the legs and short femoral neck

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 9.4 SLC12A5-AS1 MMP9
2 aortic aneurysm, familial thoracic 1 9.2 SLC12A5-AS1 MMP9

Symptoms & Phenotypes for Metaphyseal Anadysplasia 2

Human phenotypes related to Metaphyseal Anadysplasia 2:

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

Clinical features from OMIM:

613073

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

MalaCards organs/tissues related to Metaphyseal Anadysplasia 2:

40
Bone

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. 6 56
19615667 2009
2
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. 56
24648384 2014
3
Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course. 56
1867263 1991
4
[Metaphyseal chondrodysplasia (metaphyseal dysostosis)--a new type?]. 56
4252978 1970

Variations for Metaphyseal Anadysplasia 2

ClinVar genetic disease variations for Metaphyseal Anadysplasia 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MMP9 NM_004994.3(MMP9):c.2T>A (p.Met1Lys)SNV Pathogenic 17107 rs121434556 20:44637567-44637567 20:46008928-46008928
2 MMP9 NM_004994.3(MMP9):c.773C>T (p.Thr258Ile)SNV Uncertain significance 284343 rs41529445 20:44639905-44639905 20:46011266-46011266
3 MMP9 NM_004994.3(MMP9):c.906C>A (p.Cys302Ter)SNV Uncertain significance 338552 rs146499495 20:44640295-44640295 20:46011656-46011656
4 MMP9 NM_004994.3(MMP9):c.1284dup (p.Pro429fs)duplication Uncertain significance 631874 rs769764616 20:44641171-44641171 20:46012536-46012536
5 MMP9 NM_004994.3(MMP9):c.1679G>A (p.Trp560Ter)SNV Uncertain significance 631875 rs138685704 20:44642364-44642364 20:46013725-46013725
6 MMP9 NM_004994.3(MMP9):c.1764G>A (p.Trp588Ter)SNV Uncertain significance 631876 rs200746714 20:44642776-44642776 20:46014137-46014137
7 MMP9 NM_004994.3(MMP9):c.823+2_823+7deldeletion Uncertain significance 632375 rs762254377 20:44639955-44639961 20:46011318-46011323

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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