MCID: MTP023
MIFTS: 17

Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly malady

Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Sources:
48OMIM, 34MalaCards
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MalaCards: Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly, is also known as metaphyseal dysplasia - maxillary hypoplasia - brachydacty, and has symptoms including mutiple fractures/bone fragility, cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy and osteoporosis/osteopenia/demineralisation/osteomalacia/rickets. An important gene associated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly is RUNX2 (runt-related transcription factor 2). Affiliated tissues include bone.

Description from OMIM:48 156510

Aliases & Classifications for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet, 26ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
metaphyseal dysplasia - maxillary hypoplasia - brachydacty:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 48
metaphyseal dysplasia - maxillary hypoplasia - brachydacty 50


External Ids:

OMIM48 156510
ICD10 via Orphanet27 Q77.8
ICD1026 Q78.5

Related Diseases for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Symptoms for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

156510

Clinical features from OMIM:

156510

Symptoms:

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

Drugs & Therapeutics for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly

Search CenterWatch for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly

Genetic Tests for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Anatomical Context for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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34MalaCards
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MalaCards organs/tissues related to Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly:

34
Bone

Animal Models for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without... or affiliated genes

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Publications for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Variations for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly:

1
id Gene Name Type Significance SNP ID Assembly Location
1RUNX2RUNX2, 105-KB DUP, EX3-5duplicationPathogenic/card/metaphyseal_dysplasia_with_maxillary_hypoplasia_with_or_without_brachydactyly

Expression for genes affiliated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly

Search GEO for disease gene expression data for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly.

Pathways for genes affiliated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Compounds for genes affiliated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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GO Terms for genes affiliated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Products for genes affiliated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet