MCID: MTP020
MIFTS: 11

Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty malady

Bone diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

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Sources:
51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty:

Name: Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
metaphyseal dysplasia - maxillary hypoplasia - brachydacty:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 2504
ICD10 via Orphanet28 Q77.8

Summaries for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

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MalaCards based summary: Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty and has symptoms including micrognathia/retrognathia/micrognathism/retrognathism, beaked nose and thin/retracted lips. An important gene associated with Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty is RUNX2 (Runt-Related Transcription Factor 2). Affiliated tissues include bone.

Related Diseases for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

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Symptoms for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

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Symptoms:

 51 (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

Drugs & Therapeutics for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

Genetic Tests for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

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Anatomical Context for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

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MalaCards organs/tissues related to Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty:

33
Bone

Animal Models for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty or affiliated genes

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Publications for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

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Variations for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

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Clinvar genetic disease variations for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NG_008020.1: g.17867_122832dup104966duplicationPathogenicGRCh37Chr 6, 45308920: 45413885

Expression for genes affiliated with Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

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

Pathways for genes affiliated with Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

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GO Terms for genes affiliated with Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

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Sources for Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet