MCID: INF069
MIFTS: 44

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 50 68 12
Infantile Neuroaxonal Dystrophy 46 23 24 47 68 25 66
Seitelberger Disease 46 23 24 47 68
Inad 46 23 24 68
Pla2g6-Associated Neurodegeneration 22 46 23
Plan 22 23 68
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related 46 24
Neurodegeneration with Brain Iron Accumulation 2a 23 68
Neuroaxonal Dystrophy, Infantile 46 48
Pla2g6-Related Disorders 22 23
Nbia2a 23 68
Infantile Neuroaxonal Dystrophy/atypical Neuroaxonal Dystrophy 46
 
Neurodegeneration with Brain Iron Accumulation 2b 46
Neurodegeneration with Brain Iron Accumulation 2 66
Neurodegeneration Pla2g6-Associated 68
Neuroaxonal Dystrophy, Atypical 46
Karak Syndrome, Included 46
Neuroaxonal Dystrophies 66
Seitelberger's Disease 24
Nbia, Pla2g6-Related 24
Nbia2b 46
Inad1 68
Nbia2 22

Characteristics:

HPO:

62
infantile neuroaxonal dystrophy 1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 256600
MeSH37 D019150

Summaries for Infantile Neuroaxonal Dystrophy 1

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NIH Rare Diseases:46 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 RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Vesicle-mediated transport. Affiliated tissues include brain, skin and eye.

Genetics Home Reference:24 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:50 Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by... (256600) more...

NINDS:47 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:68 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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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 451)
idRelated DiseaseScoreTop Affiliating Genes
1neurodegeneration with brain iron accumulation 2b12.7
2osteopetrosis and infantile neuroaxonal dystrophy12.1
3karak syndrome11.5
4neuroaxonal dystrophy10.5
5apraxia10.4
6lupus erythematosus10.4
7breast reconstruction10.3
8developmental coordination disorder10.3
9neurodegeneration with brain iron accumulation 110.0
10cerebritis9.9
11hereditary elliptocytosis9.9NAGA, PLA2G6
12heart disease9.8
13prostatitis9.8
14placenta accreta9.8
15prostate cancer9.8
16cervicitis9.8
17hyperoxaluria, primary, type 19.7
18aplastic anemia9.7
19major depressive disorder and accelerated response to antidepressant drug treatment9.7
20citrullinemia9.7
21smith-lemli-opitz syndrome9.7
22diabetes mellitus, insulin-dependent9.7
23myasthenia gravis9.7
24obsessive-compulsive personality disorder9.7
25endogenous depression9.7
26epidermolysis bullosa simplex9.7
27kidney disease9.7
28hypoglycemia9.7
29foxp2-related speech and language disorders9.7
30febrile infection-related epilepsy syndrome9.7
31childhood apraxia of speech9.7
32cluttering9.7
33salivary gland cancer, adult9.7
34developmental dyspraxia9.7
35lymphoma9.7
36glioma9.7
37intellectual disability9.7
38cataract9.7
39sarcoma9.7
40amenorrhea9.7
41congenital heart disease9.7
42substance abuse9.7
43periodontitis9.7
44sinus cancer9.7
45lung cancer9.6
46asthma9.6
47trigeminal neuralgia9.6
48cerebral palsy9.6
49hepatitis9.6
50malignant glioma9.6

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

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 Dystrophy25 23
2 Pla2g6-Associated Neurodegeneration23 PLA2G6

Anatomical Context for Infantile Neuroaxonal Dystrophy 1

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MalaCards organs/tissues related to Infantile Neuroaxonal Dystrophy 1:

34
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:

68
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)single nucleotide variantLikely pathogenic, Pathogenicrs587784327GRCh38Chr 22, 38129523: 38129523
2PLA2G6NM_003560.2(PLA2G6): c.1351delC (p.Leu451Tyrfs)deletionPathogenicrs587784329GRCh37Chr 22, 38522454: 38522454
3PLA2G6NM_003560.2(PLA2G6): c.1351delC (p.Leu451Tyrfs)deletionPathogenicrs587784329GRCh37Chr 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)deletionPathogenicrs587784343GRCh37Chr 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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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:00197319.5APP, PLA2G6
2cellular protein metabolic processGO:00442679.2APP, RPS27A
3Notch signaling pathwayGO:00072199.1APP, RPS27A

Sources for Infantile Neuroaxonal Dystrophy 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet