MCID: MTP014
MIFTS: 16

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 54 24 71 29 13 69
Mandp2 71

Characteristics:

HPO:

32
metaphyseal anadysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613073
MedGen 40 C2751322
MeSH 42 D001848
SNOMED-CT via HPO 65 258211005 299331007

Summaries for Metaphyseal Anadysplasia 2

UniProtKB/Swiss-Prot : 71 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, and has symptoms including metaphyseal widening, short femoral neck and bowing of the legs. An important gene associated with Metaphyseal Anadysplasia 2 is MMP9 (Matrix Metallopeptidase 9). Affiliated tissues include bone.

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

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:

id Genetic test Affiliating Genes
1 Metaphyseal Anadysplasia 2 29 24 MMP9

Anatomical Context for Metaphyseal Anadysplasia 2

MalaCards organs/tissues related to Metaphyseal Anadysplasia 2:

39
Bone

Publications for Metaphyseal Anadysplasia 2

Variations for Metaphyseal Anadysplasia 2

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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