MANDP2
MCID: MTP014
MIFTS: 14

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 58 76 30 13 6 74
Mandp2 58 76
Anadysplasia, Metaphyseal, Type 2 41

Characteristics:

HPO:

33
metaphyseal anadysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613073
MeSH 45 D001848
MedGen 43 C2751322
SNOMED-CT via HPO 70 258211005 299331007
UMLS 74 C2751322

Summaries for Metaphyseal Anadysplasia 2

UniProtKB/Swiss-Prot : 76 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, is also known as mandp2. 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

Description from OMIM: 613073

Related Diseases for Metaphyseal Anadysplasia 2

Diseases in the Metaphyseal Anadysplasia family:

Metaphyseal Anadysplasia 2

Symptoms & Phenotypes for Metaphyseal Anadysplasia 2

Human phenotypes related to Metaphyseal Anadysplasia 2:

33
# Description HPO Frequency HPO Source Accession
1 bowing of the legs 33 HP:0002979
2 short femoral neck 33 HP:0100864
3 metaphyseal widening 33 HP:0003016
4 metaphyseal irregularity 33 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 30 MMP9

Anatomical Context for Metaphyseal Anadysplasia 2

MalaCards organs/tissues related to Metaphyseal Anadysplasia 2:

42
Bone

Publications for Metaphyseal Anadysplasia 2

Articles related to Metaphyseal Anadysplasia 2:

# Title Authors Year
1
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. ( 19615667 )
2009

Variations for Metaphyseal Anadysplasia 2

ClinVar genetic disease variations for Metaphyseal Anadysplasia 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MMP9 NM_004994.2(MMP9): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs121434556 GRCh37 Chromosome 20, 44637567: 44637567
2 MMP9 NM_004994.2(MMP9): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs121434556 GRCh38 Chromosome 20, 46008928: 46008928
3 MMP9 NM_004994.2(MMP9): c.773C> T (p.Thr258Ile) single nucleotide variant Uncertain significance rs41529445 GRCh37 Chromosome 20, 44639905: 44639905
4 MMP9 NM_004994.2(MMP9): c.773C> T (p.Thr258Ile) single nucleotide variant Uncertain significance rs41529445 GRCh38 Chromosome 20, 46011266: 46011266

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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