MCID: INF069
MIFTS: 42

Infantile Neuroaxonal Dystrophy 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases

Aliases & Classifications for Infantile Neuroaxonal Dystrophy 1

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Aliases & Descriptions for Infantile Neuroaxonal Dystrophy 1:

Name: Infantile Neuroaxonal Dystrophy 1 52 70 12
Infantile Neuroaxonal Dystrophy 48 24 25 49 70 27 68
Seitelberger Disease 48 24 25 49 70
Inad 48 24 25 70
Pla2g6-Associated Neurodegeneration 23 48 24
Plan 23 24 70
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related 48 25
Neurodegeneration with Brain Iron Accumulation 2a 24 70
Neuroaxonal Dystrophy, Infantile 48 50
Pla2g6-Related Disorders 23 24
Nbia2a 24 70
Infantile Neuroaxonal Dystrophy/atypical Neuroaxonal Dystrophy 48
 
Neurodegeneration with Brain Iron Accumulation 2b 48
Neurodegeneration with Brain Iron Accumulation 2 68
Neurodegeneration Pla2g6-Associated 70
Neuroaxonal Dystrophy, Atypical 48
Karak Syndrome, Included 48
Neuroaxonal Dystrophies 68
Seitelberger's Disease 25
Nbia, Pla2g6-Related 25
Nbia2b 48
Nbia2 23
Inad1 70

Characteristics:

HPO:

64
infantile neuroaxonal dystrophy 1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 256600
MeSH39 D019150

Summaries for Infantile Neuroaxonal Dystrophy 1

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NIH Rare Diseases:48 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 osteopetrosis and infantile neuroaxonal dystrophy and lupus erythematosus, 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 RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Vesicle-mediated transport. Affiliated tissues include brain, skin and eye, and related mouse phenotype Decreased shRNA abundance (Z-score < -2).

Genetics Home Reference:25 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:52 Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by... (256600) more...

NINDS:49 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:70 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 for NBK1675

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 441)
idRelated DiseaseScoreTop Affiliating Genes
1osteopetrosis and infantile neuroaxonal dystrophy12.0
2lupus erythematosus11.3
3breast reconstruction11.1
4apraxia11.0
5developmental coordination disorder11.0
6obsessive-compulsive personality disorder11.0
7neurodegeneration with brain iron accumulation 110.9
8neurodegeneration with brain iron accumulation 2b10.8
9karak syndrome10.8
10hyperoxaluria, primary, type 110.7
11aplastic anemia10.7
12major depressive disorder and accelerated response to antidepressant drug treatment10.7
13citrullinemia10.7
14smith-lemli-opitz syndrome10.7
15diabetes mellitus, insulin-dependent10.7
16hypoglycemia10.7
17foxp2-related speech and language disorders10.7
18developmental dyspraxia10.7
19neuroaxonal dystrophy10.0
20hereditary elliptocytosis9.9NAGA, PLA2G6
21cerebritis9.7
22heart disease9.7
23prostatitis9.7
24placenta accreta9.7
25mast syndrome9.6APP, RPS27A
26prostate cancer9.6
27cervicitis9.6
28intellectual disability9.6
29lymphoma9.6
30glioma9.6
31meier-gorlin syndrome 59.6APP, RPS27A
32asthma9.6
33cataract9.6
34sarcoma9.6
35esophagitis9.6
36amenorrhea9.6
37substance abuse9.6
38periodontitis9.6
39sinus cancer9.6
40aneurysm9.6
41adrenal gland pheochromocytoma9.5APP, RPS27A
42parkinson disease, late-onset9.5APP, RPS27A
43lung cancer9.5
44trigeminal neuralgia9.5
45cerebral palsy9.5
46hepatitis9.5
47malignant glioma9.5
48autism spectrum disorder9.5
49arteriovenous malformation9.5
50acoustic neuroma9.5

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



Diseases related to infantile neuroaxonal dystrophy 1

Symptoms & Phenotypes for Infantile Neuroaxonal Dystrophy 1

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Symptoms by clinical synopsis from OMIM:

256600

Clinical features from OMIM:

256600

Human phenotypes related to Infantile Neuroaxonal Dystrophy 1:

 64 (show all 33)
id Description HPO Frequency HPO Source Accession
1 nystagmus64 hallmark (90%) HP:0000639
2 optic atrophy64 hallmark (90%) HP:0000648
3 muscular hypotonia64 hallmark (90%) HP:0001252
4 developmental regression64 hallmark (90%) HP:0002376
5 visual impairment64 typical (50%) HP:0000505
6 decreased body weight64 typical (50%) HP:0004325
7 decreased nerve conduction velocity64 30% HP:0000762
8 areflexia64 30% HP:0001284
9 seizures64 occasional (7.5%) HP:0001250
10 micrognathia64 HP:0000347
11 hearing impairment64 HP:0000365
12 strabismus64 HP:0000486
13 visual loss64 HP:0000572
14 abnormality of visual evoked potentials64 HP:0000649
15 intellectual disability64 HP:0001249
16 ataxia64 HP:0001251
17 global developmental delay64 HP:0001263
18 cerebellar atrophy64 HP:0001272
19 hyperreflexia64 HP:0001347
20 abnormality of metabolism/homeostasis64 HP:0001939
21 frontal bossing64 HP:0002007
22 cerebral atrophy64 HP:0002059
23 morphological abnormality of the pyramidal tract64 HP:0002062
24 gliosis64 HP:0002171
25 neurodegeneration64 HP:0002180
26 unsteady gait64 HP:0002317
27 spastic tetraplegia64 HP:0002510
28 neuronal loss in central nervous system64 HP:0002529
29 short nose64 HP:0003196
30 generalized muscle weakness64 HP:0003324
31 emg64 HP:0003444
32 abnormal pyramidal signs64 HP:0007256
33 prominent forehead64 HP:0011220

UMLS symptoms related to Infantile Neuroaxonal Dystrophy 1:


ataxia, seizures, pyramidal sign, weakness, cerebellar ataxia, muscle spasticity, bradykinesia, action tremor, dysdiadochokinesis, gait ataxia

GenomeRNAi Phenotypes related to Infantile Neuroaxonal Dystrophy 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-589.1PLA2G6, RPS27A

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 Infantile Neuroaxonal Dystrophy27 24
2 Pla2g6-Associated Neurodegeneration24 PLA2G6

Anatomical Context for Infantile Neuroaxonal Dystrophy 1

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MalaCards organs/tissues related to Infantile Neuroaxonal Dystrophy 1:

36
Brain, Skin, Eye

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:

70
id Symbol AA change Variation ID SNP ID
1PLA2G6p.Val310GluVAR_029371rs121908682
2PLA2G6p.Asp484GlyVAR_070600
3PLA2G6p.Thr661MetVAR_070601rs767689496

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)SNVLikely pathogenic, Pathogenicrs587784327GRCh37Chr 22, 38525530: 38525530
2PLA2G6NM_003560.2(PLA2G6): c.1351delC (p.Leu451Tyrfs)deletion, CompoundHeterozygotePathogenicrs587784329GRCh37Chr 22, 38522454: 38522454
3PLA2G6NG_007094.2: g.(69605_69653)_(76237_76285)deldeletionPathogenicGRCh38Chr 22, 38134406: 38141086
4PLA2G6NM_003560.2(PLA2G6): c.109C> T (p.Arg37Ter)SNVPathogenicrs200075782GRCh37Chr 22, 38565325: 38565325
5PLA2G6NM_003560.2(PLA2G6): c.2370T> G (p.Tyr790Ter)SNVPathogenicrs121908680GRCh37Chr 22, 38508219: 38508219
6PLA2G6NM_003560.2(PLA2G6): c.929T> A (p.Val310Glu)SNVPathogenicrs121908682GRCh37Chr 22, 38528986: 38528986
7PLA2G6NM_003560.2(PLA2G6): c.2070_2072delTGT (p.Val691del)deletionPathogenicrs587784343GRCh37Chr 22, 38509624: 38509626
8PLA2G6NM_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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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:001973110.0APP, PLA2G6
2cellular protein metabolic processGO:00442679.7APP, RPS27A
3Notch signaling pathwayGO:00072199.1APP, RPS27A

Sources for Infantile Neuroaxonal Dystrophy 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet