INAD
MCID: NRX003
MIFTS: 33

Neuroaxonal Dystrophy, Infantile (INAD) malady

Neuronal diseases category

Summaries for Neuroaxonal Dystrophy, Infantile

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42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 is Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. The compounds thioflavine s and formate have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skin.

NINDS:43 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:63 Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the... more...

Aliases & Classifications for Neuroaxonal Dystrophy, Infantile

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42NIH Rare Diseases, 44Novoseek, 21Genetics Home Reference, 20GeneTests, 22GTR, 43NINDS, 60UMLS
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Anatomical: Neuronal diseases


Aliases & Descriptions:

neuroaxonal dystrophy, infantile 42 44
infantile neuroaxonal dystrophy 42 20 22 21 43 60
seitelberger disease 42 21 43
inad 42 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

Clinical Features for Neuroaxonal Dystrophy, Infantile

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Drugs & Therapeutics for Neuroaxonal Dystrophy, Infantile

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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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32MalaCards
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MalaCards organs/tissues related to Neuroaxonal Dystrophy, Infantile:

32
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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Genetic Variations for Neuroaxonal Dystrophy, Infantile

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Expression for genes affiliated with Neuroaxonal Dystrophy, Infantile

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neuroaxonal Dystrophy, Infantile

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Pathways for genes affiliated with Neuroaxonal Dystrophy, Infantile

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53Reactome
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Pathways related to Neuroaxonal Dystrophy, Infantile according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.1APP, RPS27A

Compounds for genes affiliated with Neuroaxonal Dystrophy, Infantile

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44Novoseek, 24HMDB, 2BitterDB, 49PharmGKB, 28IUPHAR, 11DrugBank
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Compounds related to Neuroaxonal Dystrophy, Infantile according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1thioflavine s449.5APP, RPS27A
2formate449.4RPS27A, APP
36-hydroxydopamine449.4APP, RPS27A
44-hydroxynonenal44 2410.4RPS27A, APP
5chloroquine44 2 49 28 1113.4APP, RPS27A
6lactacystin449.4APP, RPS27A
7sodium dodecylsulfate449.4APP, RPS27A
8thymidylate449.4RPS27A, APP
9formaldehyde44 2410.3APP, RPS27A
10curcumin449.3RPS27A, APP
11valine449.2APP, RPS27A
12carbohydrates449.2NAGA, RPS27A
13tacrolimus44 49 1111.2RPS27A, APP
14epinephrine44 11 2411.1APP, RPS27A
15glycerol44 11 2411.0NAGA, RPS27A
16aspirin44 49 28 2412.0APP, RPS27A
17gaba448.8APP, RPS27A
18carbon448.8NAGA, APP, RPS27A

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:0072199.1APP, RPS27A
2nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358728.8APP, RPS27A

Products for genes affiliated with Neuroaxonal Dystrophy, Infantile

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Sources for Neuroaxonal Dystrophy, Infantile

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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