INAD
MCID: NRX003
MIFTS: 36

Neuroaxonal Dystrophy, Infantile (INAD) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Neuroaxonal Dystrophy, Infantile

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43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Neuroaxonal dystrophy, infantile is a type of lipid storage disorder that primarily affects the nervous system. it has two forms, a classical form and an atypical form. it is usually diagnosed in infancy or early childhood and is characterized by a progressive loss of vision, and physical and mental skills. most cases are caused by mutations in the pla2g6 gene. there is evidence that at least one other gene may be involved. neuroaxonal dystrophy, infantile is inherited in an autosomal recessive fashion. click here to learn more about autosomal recessive inheritance. last updated: 7/15/2009

MalaCards: Neuroaxonal Dystrophy, Infantile, also known as infantile neuroaxonal dystrophy, is related to neuroaxonal dystrophy and osteopetrosis and infantile neuroaxonal dystrophy. An important gene associated with Neuroaxonal Dystrophy, Infantile is NAGA (N-acetylgalactosaminidase, alpha-), and among its related pathways are Cytosolic sensors of pathogen-associated DNA and Toll Like Receptor 7/8 (TLR7/8) Cascade. The compounds thioflavine s and formate have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skin.

NINDS:44 Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. It affects axons, the part of a nerve cell that carries messages from the brain to other parts of the body, and causes progressive loss of vision, muscular control, and mental skills. While the basic genetic and metabolic causes are unknown, INAD is the result of an abnormal build-up of toxic substances in nerves that communicate with muscles, skin, and the conjunctive tissue around the eyes.

Genetics Home Reference:21 Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills (developmental regression). In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly.

Wikipedia:65 Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the... more...

Aliases & Classifications for Neuroaxonal Dystrophy, Infantile

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43NIH Rare Diseases, 45Novoseek, 21Genetics Home Reference, 20GeneTests, 22GTR, 44NINDS, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

neuroaxonal dystrophy, infantile 43 45
infantile neuroaxonal dystrophy 43 20 22 21 44 62
seitelberger disease 43 21 44
inad 43 21
neurodegeneration with brain iron accumulation, pla2g6-related 21
seitelberger's disease 21
nbia, pla2g6-related 21


Related Diseases for Neuroaxonal Dystrophy, Infantile

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Neuroaxonal Dystrophy, Infantile:



Diseases related to neuroaxonal dystrophy, infantile

Symptoms for Neuroaxonal Dystrophy, Infantile

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Drugs & Therapeutics for Neuroaxonal Dystrophy, Infantile

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center for Neuroaxonal Dystrophy, Infantile

Genetic Tests for Neuroaxonal Dystrophy, Infantile

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20GeneTests, 22GTR
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Genetic tests related to Neuroaxonal Dystrophy, Infantile:

id Genetic test Affiliating Genes
1 Infantile Neuroaxonal Dystrophy20 22

Anatomical Context for Neuroaxonal Dystrophy, Infantile

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33MalaCards
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MalaCards organs/tissues related to Neuroaxonal Dystrophy, Infantile:

33
Brain, Eye, Skin

Animal Models for Neuroaxonal Dystrophy, Infantile or affiliated genes

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Publications for Neuroaxonal Dystrophy, Infantile

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Variations for Neuroaxonal Dystrophy, Infantile

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Neuroaxonal Dystrophy, Infantile:

1
id Gene Name Type Significance SNP ID Assembly Location
1PLA2G6NM_003560.2(PLA2G6): c.109C> T (p.Arg37Ter)single nucleotide variantPathogenicrs200075782GRCh37Chr 22, 38565325: 38565325
2PLA2G6NM_003560.2(PLA2G6): c.2370T> G (p.Tyr790Ter)single nucleotide variantPathogenicrs121908680GRCh37Chr 22, 38508219: 38508219
3PLA2G6NM_003560.2(PLA2G6): c.929T> A (p.Val310Glu)single nucleotide variantPathogenicrs121908682GRCh37Chr 22, 38528986: 38528986

Expression for genes affiliated with Neuroaxonal Dystrophy, Infantile

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neuroaxonal Dystrophy, Infantile

Search GEO for disease gene expression data for Neuroaxonal Dystrophy, Infantile.

Pathways for genes affiliated with Neuroaxonal Dystrophy, Infantile

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50PathCards, 55Reactome, 30KEGG
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Pathways related to Neuroaxonal Dystrophy, Infantile according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1RPS27A, APP
2
Show member pathways
9.1RPS27A, APP
3
Show member pathways
9.1RPS27A, APP

Compounds for genes affiliated with Neuroaxonal Dystrophy, Infantile

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45Novoseek, 24HMDB, 3BitterDB, 51PharmGKB, 29IUPHAR, 11DrugBank, 61Tocris Bioscience
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Compounds related to Neuroaxonal Dystrophy, Infantile according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1thioflavine s459.5RPS27A, APP
2formate459.5APP, RPS27A
36-hydroxydopamine459.5RPS27A, APP
44-hydroxynonenal45 2410.5RPS27A, APP
5chloroquine45 3 51 29 1113.5APP, RPS27A
6lactacystin459.5RPS27A, APP
7sodium dodecylsulfate459.4RPS27A, APP
8thymidylate459.4APP, RPS27A
9formaldehyde45 2410.4RPS27A, APP
10curcumin459.4APP, RPS27A
11valine459.4RPS27A, APP
12tacrolimus45 51 1111.4APP, RPS27A
13aspirin45 51 29 2412.3RPS27A, APP
14carbohydrates459.3RPS27A, NAGA
15gaba459.3RPS27A, APP
16epinephrine45 24 1111.3APP, RPS27A
17glycerol45 24 1111.3RPS27A, NAGA
18butyrate459.2RPS27A, APP
19nmda45 2910.2RPS27A, APP
20acetylcholine45 51 29 24 1113.1APP, RPS27A
21glutamine459.1RPS27A, APP
22actinomycin d459.0RPS27A, APP
23carbon458.9RPS27A, NAGA, APP
24cyclosporin a45 29 6110.8RPS27A, APP

GO Terms for genes affiliated with Neuroaxonal Dystrophy, Infantile

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16Gene Ontology
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Biological processes related to Neuroaxonal Dystrophy, Infantile according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Notch signaling pathwayGO:0072199.1RPS27A, APP
2nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358728.8RPS27A, APP

Products for genes affiliated with Neuroaxonal Dystrophy, Infantile

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Sources for Neuroaxonal Dystrophy, Infantile

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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