MCID: INF069
MIFTS: 46

Infantile Neuroaxonal Dystrophy 1 malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Infantile Neuroaxonal Dystrophy 1

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Aliases & Descriptions for Infantile Neuroaxonal Dystrophy 1:

Name: Infantile Neuroaxonal Dystrophy 1 49 11 67
Infantile Neuroaxonal Dystrophy 45 22 23 46 24 65 67
Seitelberger Disease 45 22 23 46 67
Inad 45 22 23 67
Pla2g6-Associated Neurodegeneration 21 45 22
Neuroaxonal Dystrophy, Atypical 45 22 24
Plan 21 22 67
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related 45 23
Neurodegeneration with Brain Iron Accumulation 2b 45 22
Neurodegeneration with Brain Iron Accumulation 2a 22 67
Neuroaxonal Dystrophy, Infantile 45 47
 
Pla2g6-Related Disorders 21 22
Nbia2b 45 22
Nbia2a 22 67
Infantile Neuroaxonal Dystrophy/atypical Neuroaxonal Dystrophy 45
Neurodegeneration Pla2g6-Associated 67
Karak Syndrome, Included 45
Seitelberger's Disease 23
Nbia, Pla2g6-Related 23
Inad1 67
Nbia2 21


Classifications:



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OMIM49 256600
MeSH36 D019150

Summaries for Infantile Neuroaxonal Dystrophy 1

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NIH Rare Diseases:45 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: Infantile Neuroaxonal Dystrophy 1, also known as infantile neuroaxonal dystrophy, is related to neurodegeneration with brain iron accumulation 2b and pick disease, and has symptoms including nystagmus, optic atrophy and muscular hypotonia. An important gene associated with Infantile Neuroaxonal Dystrophy 1 is PLA2G6 (Phospholipase A2, Group VI (Cytosolic, Calcium-Independent)), and among its related pathways are RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Presenilin-Mediated Signaling. Affiliated tissues include brain, skin and eye.

Genetics Home Reference:23 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.

OMIM:49 Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by... (256600) more...

NINDS:46 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.

UniProtKB/Swiss-Prot:67 Neurodegeneration with brain iron accumulation 2A: A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years.

GeneReviews summary for inad

Related Diseases for Infantile Neuroaxonal Dystrophy 1

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Diseases in the Neuroaxonal Dystrophy family:

infantile neuroaxonal dystrophy 1

Diseases related to Infantile Neuroaxonal Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 1161)
idRelated DiseaseScoreTop Affiliating Genes
1neurodegeneration with brain iron accumulation 2b30.5APP, NAGA, PLA2G6, RPS27A
2pick disease30.3APP, RPS27A
3syphilis29.5APP, RPS27A
4parkinson disease, late-onset29.3APP, PLA2G6, RPS27A
5teeth hard tissue disease29.3APP, RPS27A
6neuroaxonal dystrophy10.8
7osteopetrosis and infantile neuroaxonal dystrophy10.6
8learning disability10.5
9lung cancer10.5
10prostate cancer10.4
11axonal neuropathy10.4
12giant axonal neuropathy10.4
13congenital heart disease10.4
14thoracic cancer10.4
15bronchial disease10.4
16non-suppurative otitis media10.4
17gastrointestinal system cancer10.4
18breast cancer10.3
19speech and communication disorders10.3
20prostate disease10.3
21asthma10.3
22acquired immunodeficiency syndrome10.3
23li-fraumeni syndrome10.3
24bronchus carcinoma10.3
25breast disease10.3
26bronchial neoplasm10.3
27heart cancer10.3
28human immunodeficiency virus infectious disease10.3
29obstructive lung disease10.3
30bladder disease10.3
31cork-handlers' disease10.3
32adenocarcinoma10.3
33anxiety disorder10.3
34brain cancer10.3
35male reproductive system disease10.3
36nutritional deficiency disease10.3
37obesity10.3
38diabetes mellitus, insulin-dependent10.3
39spondylosis10.3
40conduct disorder10.3
41female reproductive system disease10.3
42respiratory system disease10.3
43skin benign neoplasm10.3
44male genital disorders10.3
45heart tumor10.3
46adult heart tumor10.3
47osteopetrosis10.3
48neuronal ceroid lipofuscinosis10.3
49cerebellar degeneration10.3
50diencephalic syndrome10.3

Graphical network of the top 20 diseases related to Infantile Neuroaxonal Dystrophy 1:



Diseases related to infantile neuroaxonal dystrophy 1

Symptoms for Infantile Neuroaxonal Dystrophy 1

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Symptoms by clinical synopsis from OMIM:

256600

Clinical features from OMIM:

256600

HPO human phenotypes related to Infantile Neuroaxonal Dystrophy 1:

(show all 40)
id Description Frequency HPO Source Accession
1 nystagmus hallmark (90%) HP:0000639
2 optic atrophy hallmark (90%) HP:0000648
3 muscular hypotonia hallmark (90%) HP:0001252
4 developmental regression hallmark (90%) HP:0002376
5 visual impairment typical (50%) HP:0000505
6 decreased body weight typical (50%) HP:0004325
7 decreased nerve conduction velocity 30% HP:0000762
8 areflexia 30% HP:0001284
9 seizures occasional (7.5%) HP:0001250
10 autosomal recessive inheritance HP:0000007
11 micrognathia HP:0000347
12 hearing impairment HP:0000365
13 strabismus HP:0000486
14 visual loss HP:0000572
15 nystagmus HP:0000639
16 optic atrophy HP:0000648
17 abnormality of visual evoked potentials HP:0000649
18 intellectual disability HP:0001249
19 seizures HP:0001250
20 ataxia HP:0001251
21 muscular hypotonia HP:0001252
22 global developmental delay HP:0001263
23 cerebellar atrophy HP:0001272
24 hyperreflexia HP:0001347
25 abnormality of metabolism/homeostasis HP:0001939
26 frontal bossing HP:0002007
27 cerebral atrophy HP:0002059
28 morphological abnormality of the pyramidal tract HP:0002062
29 gliosis HP:0002171
30 neurodegeneration HP:0002180
31 unsteady gait HP:0002317
32 developmental regression HP:0002376
33 spastic tetraplegia HP:0002510
34 neuronal loss in central nervous system HP:0002529
35 short nose HP:0003196
36 generalized muscle weakness HP:0003324
37 emg HP:0003444
38 infantile onset HP:0003593
39 abnormal pyramidal signs HP:0007256
40 prominent forehead HP:0011220

Drugs & Therapeutics for Infantile Neuroaxonal Dystrophy 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Infantile Neuroaxonal Dystrophy 1

Genetic Tests for Infantile Neuroaxonal Dystrophy 1

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Genetic tests related to Infantile Neuroaxonal Dystrophy 1:

id Genetic test Affiliating Genes
1 Pla2g6-Associated Neurodegeneration22 PLA2G6
2 Atypical Neuroaxonal Dystrophy22
3 Infantile Neuroaxonal Dystrophy22 24
4 Atypical Neuroaxonal Dystrophy (anad)24

Anatomical Context for Infantile Neuroaxonal Dystrophy 1

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MalaCards organs/tissues related to Infantile Neuroaxonal Dystrophy 1:

33
Brain, Skin, Eye

Animal Models for Infantile Neuroaxonal Dystrophy 1 or affiliated genes

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Publications for Infantile Neuroaxonal Dystrophy 1

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Variations for Infantile Neuroaxonal Dystrophy 1

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UniProtKB/Swiss-Prot genetic disease variations for Infantile Neuroaxonal Dystrophy 1:

67
id Symbol AA change Variation ID SNP ID
1PLA2G6p.Val310GluVAR_029371
2PLA2G6p.Asp484GlyVAR_070600
3PLA2G6p.Thr661MetVAR_070601

Clinvar genetic disease variations for Infantile Neuroaxonal Dystrophy 1:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1PLA2G6NM_003560.2(PLA2G6): c.1117G> A (p.Gly373Arg)single nucleotide variantLikely pathogenic, Pathogenicrs587784327GRCh38Chr 22, 38129523: 38129523
2PLA2G6NM_003560.2(PLA2G6): c.1351delC (p.Leu451Tyrfs)deletionLikely pathogenic, Pathogenicrs587784329GRCh37Chr 22, 38522454: 38522454
3PLA2G6NM_003560.2(PLA2G6): c.1351delC (p.Leu451Tyrfs)deletionLikely pathogenic, Pathogenicrs587784329GRCh37Chr 22, 38522454: 38522454
4PLA2G6NM_003560.2(PLA2G6): c.1349-2A> Gsingle nucleotide variantPathogenicrs797045888GRCh38Chr 22, 38126451: 38126451
5PLA2G6NG_007094.1: g.(45669_45717)_(52301_52349)deldeletionPathogenicGRCh38Chr 22, 38134406: 38141086
6PLA2G6NM_003560.2(PLA2G6): c.109C> T (p.Arg37Ter)single nucleotide variantPathogenicrs200075782GRCh37Chr 22, 38565325: 38565325
7PLA2G6NM_003560.2(PLA2G6): c.2370T> G (p.Tyr790Ter)single nucleotide variantPathogenicrs121908680GRCh37Chr 22, 38508219: 38508219
8PLA2G6NM_003560.2(PLA2G6): c.1634A> C (p.Lys545Thr)single nucleotide variantPathogenicrs121908681GRCh37Chr 22, 38516874: 38516874
9PLA2G6NM_003560.2(PLA2G6): c.929T> A (p.Val310Glu)single nucleotide variantPathogenicrs121908682GRCh37Chr 22, 38528986: 38528986
10PLA2G6NM_003560.2(PLA2G6): c.2070_2072delTGT (p.Val691del)deletionPathogenicrs587784344GRCh37Chr 22, 38509624: 38509626
11PLA2G6NM_003560.2(PLA2G6): c.2370_2371delTG (p.Tyr790Terfs)deletionPathogenicrs587784353GRCh38Chr 22, 38112211: 38112212
12PLA2G6NM_003560.2(PLA2G6): c.238G> A (p.Ala80Thr)single nucleotide variantPathogenicrs121908685GRCh37Chr 22, 38541632: 38541632

Expression for genes affiliated with Infantile Neuroaxonal Dystrophy 1

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Search GEO for disease gene expression data for Infantile Neuroaxonal Dystrophy 1.

Pathways for genes affiliated with Infantile Neuroaxonal Dystrophy 1

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GO Terms for genes affiliated with Infantile Neuroaxonal Dystrophy 1

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Cellular components related to Infantile Neuroaxonal Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.6APP, PLA2G6, RPS27A

Biological processes related to Infantile Neuroaxonal Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1antibacterial humoral responseGO:00197319.7APP, PLA2G6
2nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.6APP, RPS27A
3Notch signaling pathwayGO:00072199.6APP, RPS27A
4membrane organizationGO:00610249.3APP, RPS27A
5innate immune responseGO:00450878.6APP, PLA2G6, RPS27A

Sources for Infantile Neuroaxonal Dystrophy 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet