MCID: INF069
MIFTS: 39

Infantile Neuroaxonal Dystrophy 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

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

Characteristics:

HPO:

61
infantile neuroaxonal dystrophy 1:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 256600
MeSH36 D019150
UMLS65 C0270724, C1857747

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 osteopetrosis and infantile neuroaxonal dystrophy, 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), and among its related pathways are Presenilin-Mediated Signaling and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. Affiliated tissues include brain, eye and skin.

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 NBK1675

Related Diseases for Infantile Neuroaxonal Dystrophy 1

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

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 Infantile Neuroaxonal Dystrophy22

Anatomical Context for Infantile Neuroaxonal Dystrophy 1

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MalaCards organs/tissues related to Infantile Neuroaxonal Dystrophy 1:

33
Brain, Eye, Skin

Animal Models for Infantile Neuroaxonal Dystrophy 1 or affiliated genes

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MGI Mouse Phenotypes related to Infantile Neuroaxonal Dystrophy 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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
id Gene Variation Type Significance SNP ID Assembly Location
1PLA2G6NM_003560.2(PLA2G6): c.1117G> A (p.Gly373Arg)single nucleotide variantLikely pathogenic, Pathogenicrs587784327GRCh37Chr 22, 38525530: 38525530
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
4PLA2G6NG_007094.2: g.(69605_69653)_(76237_76285)deldeletionPathogenicGRCh38Chr 22, 38134406: 38141086
5PLA2G6NM_003560.2(PLA2G6): c.109C> T (p.Arg37Ter)single nucleotide variantPathogenicrs200075782GRCh37Chr 22, 38565325: 38565325
6PLA2G6NM_003560.2(PLA2G6): c.2370T> G (p.Tyr790Ter)single nucleotide variantPathogenicrs121908680GRCh37Chr 22, 38508219: 38508219
7PLA2G6NM_003560.2(PLA2G6): c.929T> A (p.Val310Glu)single nucleotide variantPathogenicrs121908682GRCh37Chr 22, 38528986: 38528986
8PLA2G6NM_003560.2(PLA2G6): c.2070_2072delTGT (p.Val691del)deletionLikely pathogenic, Pathogenicrs587784343GRCh37Chr 22, 38509624: 38509626
9PLA2G6NM_003560.2(PLA2G6): c.2370_2371delTG (p.Tyr790Terfs)deletionPathogenicrs587784353GRCh38Chr 22, 38112211: 38112212

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

idNameGO IDScoreTop Affiliating Genes
1antibacterial humoral responseGO:00197319.4APP, PLA2G6
2nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358728.8APP, 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