INAD
MCID: NRX003
MIFTS: 36

Neuroaxonal Dystrophy, Infantile (INAD) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Neuroaxonal Dystrophy, Infantile

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44NIH Rare Diseases, 45NINDS, 22Genetics Home Reference, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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:45 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:22 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:66 Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the... more...

Aliases & Classifications for Neuroaxonal Dystrophy, Infantile

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44NIH Rare Diseases, 46Novoseek, 22Genetics Home Reference, 21GeneTests, 23GTR, 45NINDS, 63UMLS
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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 44 46
infantile neuroaxonal dystrophy 44 21 23 22 45 63
seitelberger disease 44 22 45
inad 44 22
neurodegeneration with brain iron accumulation, pla2g6-related 22
seitelberger's disease 22
nbia, pla2g6-related 22


Related Diseases for Neuroaxonal Dystrophy, Infantile

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Genetic Tests for Neuroaxonal Dystrophy, Infantile

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21GeneTests, 23GTR
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Genetic tests related to Neuroaxonal Dystrophy, Infantile:

id Genetic test Affiliating Genes
1 Infantile Neuroaxonal Dystrophy21 23

Anatomical Context for Neuroaxonal Dystrophy, Infantile

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34MalaCards
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MalaCards organs/tissues related to Neuroaxonal Dystrophy, Infantile:

34
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, 16Gene 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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51PathCards, 56Reactome, 31KEGG
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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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46Novoseek, 25HMDB, 3BitterDB, 52PharmGKB, 30IUPHAR, 12DrugBank, 62Tocris Bioscience
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Compounds related to Neuroaxonal Dystrophy, Infantile according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1thioflavine s469.5RPS27A, APP
2formate469.5APP, RPS27A
36-hydroxydopamine469.5RPS27A, APP
44-hydroxynonenal46 2510.5RPS27A, APP
5chloroquine46 3 52 30 1213.5APP, RPS27A
6lactacystin469.5RPS27A, APP
7sodium dodecylsulfate469.4RPS27A, APP
8thymidylate469.4APP, RPS27A
9formaldehyde46 2510.4RPS27A, APP
10curcumin469.4APP, RPS27A
11valine469.4RPS27A, APP
12tacrolimus46 52 1211.4APP, RPS27A
13aspirin46 52 30 2512.3RPS27A, APP
14carbohydrates469.3RPS27A, NAGA
15gaba469.3RPS27A, APP
16epinephrine46 25 1211.3APP, RPS27A
17glycerol46 25 1211.3RPS27A, NAGA
18butyrate469.2RPS27A, APP
19nmda46 3010.2RPS27A, APP
20acetylcholine46 52 30 25 1213.1APP, RPS27A
21glutamine469.1RPS27A, APP
22actinomycin d469.0RPS27A, APP
23carbon468.9RPS27A, NAGA, APP
24cyclosporin a46 30 6210.8RPS27A, APP

GO Terms for genes affiliated with Neuroaxonal Dystrophy, Infantile

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17Gene 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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  • Antibodies
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Sources for Neuroaxonal Dystrophy, Infantile

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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