MCID: MTP023
MIFTS: 17

Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly malady

Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Sources:
47OMIM, 33MalaCards
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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:47 156510

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

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Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet, 25ICD10
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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):

49
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 47
metaphyseal dysplasia - maxillary hypoplasia - brachydacty 49


External Ids:

OMIM47 156510
ICD10 via Orphanet26 Q77.8
ICD1025 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:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

156510

Clinical features from OMIM:

156510

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly:

33
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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet