MCID: MTP010
MIFTS: 10

Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

Categories: Rare diseases

Aliases & Classifications for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

MalaCards integrated aliases for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly:

Name: Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly 53
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 29 6
Dysplasia, Metaphyseal, with Maxillary Hypoplasia and Brachydactyly 40

Classifications:



Summaries for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2504Disease definitionMetaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominanttrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly, also known as metaphyseal dysplasia with maxillary hypoplasia and brachydactyly, is related to pyle disease and brachydactyly. An important gene associated with Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly is RUNX2 (Runt Related Transcription Factor 2).

Related Diseases for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

Diseases related to Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pyle disease 10.4
2 brachydactyly 10.4

Symptoms & Phenotypes for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

Drugs & Therapeutics for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

Search Clinical Trials , NIH Clinical Center for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

Genetic Tests for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

Genetic tests related to Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly:

# Genetic test Affiliating Genes
1 Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 29 RUNX2

Anatomical Context for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

Publications for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

Articles related to Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly:

# Title Authors Year
1
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly in a Finnish Woman: First Confirmation of a Duplication in RUNX2 as Pathogenic Variant. ( 25311905 )
2014
2
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. ( 23290074 )
2013
3
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. ( 7137223 )
1982

Variations for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

ClinVar genetic disease variations for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RUNX2 NG_008020.1: g.17867_122832dup duplication Pathogenic GRCh37 Chromosome 6, 45308920: 45413885
2 RUNX2 NG_008020.1: g.17867_122832dup duplication Pathogenic GRCh38 Chromosome 6, 45341183: 45446148

Expression for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

Search GEO for disease gene expression data for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly.

Pathways for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

GO Terms for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

Sources for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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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