MCID: MBR001

Mabry Syndrome malady

Neuronal diseases category

Summaries for Mabry Syndrome

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Sources:
21Genetics Home Reference, 32MalaCards
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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 hyperphosphatasia with mental retardation syndrome 3. 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


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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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Mabry Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperphosphatasia with mental retardation syndrome 210.6
2hyperphosphatasia with mental retardation syndrome 310.5
3west syndrome10.3
4hyperphosphatasia with mental retardation syndrome10.2
5hyperphosphatasia with mental retardation syndrome 110.1

Graphical network of diseases related to Mabry Syndrome:



Diseases related to mabry syndrome

Clinical Features for Mabry Syndrome

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Drugs & Therapeutics for Mabry Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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Genetic Variations for Mabry Syndrome

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Expression for genes affiliated with Mabry Syndrome

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet