MCID: MBR001
MIFTS: 11

Mabry Syndrome malady

Neuronal diseases, Mental diseases categories

Summaries for Mabry Syndrome

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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

About this section
Sources:
22Genetics Home Reference
See all sources

Classifications:

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


Aliases & Descriptions:

mabry syndrome 22
hyperphosphatasia with seizures and neurologic deficit 22
hyperphosphatasia with mental retardation syndrome 22


Related Diseases for Mabry Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Graphical network of diseases related to Mabry Syndrome:



Diseases related to mabry syndrome

Symptoms for Mabry Syndrome

About this section

Drugs & Therapeutics for Mabry Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Mabry Syndrome

Drug clinical trials:

Search ClinicalTrials for Mabry Syndrome

Search NIH Clinical Center for Mabry Syndrome

Search CenterWatch for Mabry Syndrome

Genetic Tests for Mabry Syndrome

About this section

Anatomical Context for Mabry Syndrome

About this section

Animal Models for Mabry Syndrome or affiliated genes

About this section

Publications for Mabry Syndrome

About this section
Sources:
53PubMed
See all sources

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

About this section

Expression for genes affiliated with Mabry Syndrome

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Mabry Syndrome

Search GEO for disease gene expression data for Mabry Syndrome.

Pathways for genes affiliated with Mabry Syndrome

About this section

Compounds for genes affiliated with Mabry Syndrome

About this section

GO Terms for genes affiliated with Mabry Syndrome

About this section

Products for genes affiliated with Mabry Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mabry Syndrome

About this section
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