MCID: MBR001
MIFTS: 11

Mabry Syndrome malady

Neuronal diseases, Mental diseases categories
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Summaries for Mabry Syndrome

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Sources:
21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms.

MalaCards: Mabry Syndrome, also known as hyperphosphatasia with seizures and neurologic deficit, is related to hyperphosphatasia with mental retardation syndrome 2 and mental retardation. An important gene associated with Mabry Syndrome is PIGV (phosphatidylinositol glycan anchor biosynthesis, class V).

Aliases & Classifications for Mabry Syndrome

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21Genetics Home Reference
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Mental diseases


Aliases & Descriptions:

mabry syndrome 21
hyperphosphatasia with seizures and neurologic deficit 21
hyperphosphatasia with mental retardation syndrome 21


Related Diseases for Mabry Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Mabry Syndrome:



Diseases related to mabry syndrome

Symptoms for Mabry Syndrome

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Drugs & Therapeutics for Mabry Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Mabry Syndrome

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Anatomical Context for Mabry Syndrome

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Animal Models for Mabry Syndrome or affiliated genes

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Publications for Mabry Syndrome

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52PubMed
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Articles related to Mabry Syndrome:

idTitleAuthorsYear
1
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. (20578257)
2010

Variations for Mabry Syndrome

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Expression for genes affiliated with Mabry Syndrome

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mabry Syndrome

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Pathways for genes affiliated with Mabry Syndrome

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Compounds for genes affiliated with Mabry Syndrome

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GO Terms for genes affiliated with Mabry Syndrome

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Products for genes affiliated with Mabry Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mabry Syndrome

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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