MCID: MTP010
MIFTS: 13

Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly malady

Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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MalaCards based summary: Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly, is also known as metaphyseal dysplasia - maxillary hypoplasia - brachydacty, and has symptoms including thin vermilion border, short philtrum and micrognathia. An important gene associated with Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly is RUNX2 (runt-related transcription factor 2). Affiliated tissues include bone.

Aliases & Classifications for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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Sources:
41NIH Rare Diseases, 22GTR, 47Orphanet, 26ICD10 via Orphanet
See all sources

Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly, Aliases & Descriptions:

Name: Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly 41 22
 
Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty 41 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

47
metaphyseal dysplasia - maxillary hypoplasia - brachydacty:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 2504
ICD10 via Orphanet26 Q77.8

Related Diseases for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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Symptoms for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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Symptoms:

 47 (show all 17)
  • micrognathia/retrognathia/micrognathism/retrognathism
  • beaked nose
  • thin/retracted lips
  • short philtrum
  • dental staining anomaly/spotted teeth/erythrodontia
  • short hand/brachydactyly
  • metaphyseal anomaly
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • abnormal vertebral size/shape
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • camptodactyly of fingers
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • mutiple fractures/bone fragility

HPO human phenotypes related to Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly:

(show all 16)
id Description Frequency HPO Source Accession
1 thin vermilion border hallmark (90%) HP:0000233
2 short philtrum hallmark (90%) HP:0000322
3 micrognathia hallmark (90%) HP:0000347
4 convex nasal ridge hallmark (90%) HP:0000444
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 brachydactyly syndrome hallmark (90%) HP:0001156
7 short stature hallmark (90%) HP:0004322
8 abnormality of dental color hallmark (90%) HP:0011073
9 abnormality of the femur typical (50%) HP:0002823
10 abnormality of the humerus typical (50%) HP:0003063
11 abnormal form of the vertebral bodies typical (50%) HP:0003312
12 reduced bone mineral density typical (50%) HP:0004349
13 craniofacial hyperostosis typical (50%) HP:0004493
14 camptodactyly of finger typical (50%) HP:0100490
15 cerebral cortical atrophy occasional (7.5%) HP:0002120
16 recurrent fractures occasional (7.5%) HP:0002757

Drugs & Therapeutics for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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Drug clinical trials:

Search ClinicalTrials for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

Search NIH Clinical Center for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

Genetic Tests for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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Genetic tests related to Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly:

id Genetic test Affiliating Genes
1 Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly22

Anatomical Context for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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MalaCards organs/tissues related to Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly:

31
Bone

Animal Models for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly or affiliated genes

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Publications for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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Variations for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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Clinvar genetic disease variations for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly:

6
id Gene Variation Type Significance SNP ID Assembly Location
1RUNX2RUNX2, 105-KB DUP, EX3-5duplicationPathogenic

Expression for genes affiliated with Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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

Pathways for genes affiliated with Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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Compounds for genes affiliated with Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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GO Terms for genes affiliated with Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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Products for genes affiliated with Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet