INAD
MCID: NRX003
MIFTS: 39

Neuroaxonal Dystrophy, Infantile (INAD) malady

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

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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 based summary: 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 PLA2G6 (phospholipase A2, group VI (cytosolic, calcium-independent)), and among its related pathways are Cytosolic sensors of pathogen-associated DNA and Toll Like Receptor 7/8 (TLR7/8) Cascade. The compounds manoalide and ndga have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skin.

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.

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.

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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Neuroaxonal Dystrophy, Infantile, Aliases & Descriptions:

Name: Neuroaxonal Dystrophy, Infantile 42 44
Infantile Neuroaxonal Dystrophy 42 20 22 21 43 62
Seitelberger Disease 42 21 43
Inad 42 21
 
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related 21
Seitelberger's Disease 21
Nbia, Pla2g6-Related 21


Classifications:



Related Diseases for Neuroaxonal Dystrophy, Infantile

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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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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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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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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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Variations for Neuroaxonal Dystrophy, Infantile

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Clinvar genetic disease variations for Neuroaxonal Dystrophy, Infantile:

6
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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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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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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Compounds related to Neuroaxonal Dystrophy, Infantile according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1manoalide449.9PLA2G6, APP
2ndga449.8PLA2G6, APP
3propranolol44 28 50 24 1113.8PLA2G6, APP
4corticosterone44 61 2411.8APP, PLA2G6
5gf 109203x44 6110.7APP, PLA2G6
6verapamil44 28 50 24 1113.7PLA2G6, APP
75-hydroxytryptamine449.7APP, PLA2G6
8choline44 24 1111.7PLA2G6, APP
9isoproterenol44 1110.6PLA2G6, APP
10thapsigargin44 6110.6PLA2G6, APP
11thioflavine s449.6RPS27A, APP
12melittin449.6RPS27A, PLA2G6
13formate449.5RPS27A, APP
146-hydroxydopamine449.5RPS27A, APP
15succinate449.5PLA2G6, RPS27A
164-hydroxynonenal44 2410.5RPS27A, APP
17gnrh449.5PLA2G6, APP
18lactacystin449.5RPS27A, APP
19sodium dodecylsulfate449.5RPS27A, APP
20thymidylate449.5APP, RPS27A
21palmitate449.5PLA2G6, RPS27A
22formaldehyde44 2410.4RPS27A, APP
23curcumin449.4APP, RPS27A
24carbohydrates449.3RPS27A, NAGA
25valine449.3APP, RPS27A
26tacrolimus44 50 1111.2RPS27A, APP
27gaba449.1RPS27A, APP
28indomethacin44 28 61 1112.1RPS27A, PLA2G6
29chloroquine44 2 50 28 1113.1RPS27A, PLA2G6, APP
30aspirin44 50 28 2412.0APP, PLA2G6, RPS27A
31nmda44 2810.0RPS27A, PLA2G6, APP
32acetylcholine44 50 28 24 1113.0APP, PLA2G6, RPS27A
33actinomycin d449.0RPS27A, PLA2G6, APP
34epinephrine44 24 1111.0APP, RPS27A
35cyclosporin a44 28 6111.0APP, PLA2G6, RPS27A
36dopamine44 28 24 1112.0RPS27A, PLA2G6, APP
37creatinine449.0APP, PLA2G6, RPS27A
38adenylate449.0APP, PLA2G6, RPS27A
39h2o2449.0RPS27A, PLA2G6, APP
40dexamethasone44 50 28 1112.0RPS27A, PLA2G6, APP
41arginine449.0APP, PLA2G6, RPS27A
42glutamate449.0RPS27A, PLA2G6, APP
43carbon449.0APP, NAGA, RPS27A
44glycerol44 24 1110.9RPS27A, PLA2G6, NAGA
45retinoic acid44 249.9RPS27A, PLA2G6, APP
46cysteine448.9RPS27A, PLA2G6, APP
47atp44 289.8RPS27A, PLA2G6, NAGA
48serine448.3RPS27A, PLA2G6, APP

GO Terms for genes affiliated with Neuroaxonal Dystrophy, Infantile

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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:0358729.0RPS27A, APP
3innate immune responseGO:0450878.3RPS27A, PLA2G6, APP

Products for genes affiliated with Neuroaxonal Dystrophy, Infantile

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