MCID: MBR001
MIFTS: 15

Mabry Syndrome malady

Neuronal diseases, Mental diseases categories
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Summaries for Mabry Syndrome

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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 based summary: 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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Mabry Syndrome, Aliases & Descriptions:

Name: Mabry Syndrome 21
Hyperphosphatasia with Seizures and Neurologic Deficit 21
 
Hyperphosphatasia with Mental Retardation Syndrome 21
Hyperphosphatasia with Mental Retardation 62


Classifications:

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


Related Diseases for Mabry Syndrome

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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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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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Articles related to Mabry Syndrome:

idTitleAuthorsYear
1
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). (22315194)
2012
2
Phenotypic variability in Mabry syndrome: evidence for genetic heterogeneity. (24134985)
2012
3
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet