MCID: MTP014
MIFTS: 15

Metaphyseal Anadysplasia 2

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

Aliases & Classifications for Metaphyseal Anadysplasia 2

MalaCards integrated aliases for Metaphyseal Anadysplasia 2:

Name: Metaphyseal Anadysplasia 2 57 75 29 13 6 73
Mandp2 57 75
Anadysplasia, Metaphyseal, Type 2 40

Characteristics:

HPO:

32
metaphyseal anadysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613073
MedGen 42 C2751322
MeSH 44 D001848
SNOMED-CT via HPO 69 258211005 299331007
UMLS 73 C2751322

Summaries for Metaphyseal Anadysplasia 2

UniProtKB/Swiss-Prot : 75 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 metaphyseal widening

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

Clinical features from OMIM:

613073

Human phenotypes related to Metaphyseal Anadysplasia 2:

32
# Description HPO Frequency HPO Source Accession
1 bowing of the legs 32 HP:0002979
2 metaphyseal widening 32 HP:0003016
3 metaphyseal irregularity 32 HP:0003025
4 short femoral neck 32 HP:0100864

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:

41
Bone

Publications for Metaphyseal Anadysplasia 2

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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