NBIA2A
MCID: INF069
MIFTS: 43

Infantile Neuroaxonal Dystrophy 1 (NBIA2A) 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 52 11 70 12
Infantile Neuroaxonal Dystrophy 48 24 25 49 70 27 68
Seitelberger Disease 11 48 24 25 49 70
Neurodegeneration with Brain Iron Accumulation 2a 11 24 70 13
Inad 48 24 25 70
Pla2g6-Associated Neurodegeneration 23 48 24
Nbia2a 11 24 70
Plan 23 24 70
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related 48 25
Neuroaxonal Dystrophy, Infantile 48 50
Pla2g6-Related Disorders 23 24
Inad1 11 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 11
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

Characteristics:

HPO:

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

Classifications:



External Ids:

OMIM52 256600
Disease Ontology11 DOID:0110735
ICD1030 G23.0
MeSH39 D019150

Summaries for Infantile Neuroaxonal Dystrophy 1

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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.  Symptoms usually begin within the first 2 years of life, with the loss of head control and the ability to sit, crawl, or walk, accompanied by deterioration in vision and speech.  Some children may have seizures.  Distinctive facial deformities may be present at birth, including a prominent forehead, crossed eyes, an unusually small nose or jaw, and large, low-set ears.  INAD is an autosomal recessive disorder, which means that both parents must be carriers of the defective gene that causes INAD to pass it on to their child. Electrophysiology (nerve conduction velocities) may be helpful for diagnosis, although diagnosis is usually confirmed by tissue biopsy of skin, rectum, nerve or conjunctive tissue to confirm the presence of characteristic swellings (spheroid bodies) in the nerve axons. 

MalaCards based summary: Infantile Neuroaxonal Dystrophy 1, also known as infantile neuroaxonal dystrophy, is related to thrombosis and neurodegeneration with brain iron accumulation 2b, and has symptoms including ataxia, ataxia and seizures. An important gene associated with Infantile Neuroaxonal Dystrophy 1 is PLA2G6 (Phospholipase A2 Group VI), and among its related pathways is Pantothenate and CoA biosynthesis. Affiliated tissues include brain, skin and eye.

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

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.

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...

Disease Ontology:11 A neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1.

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 256)
idRelated DiseaseScoreTop Affiliating Genes
1thrombosis29.4ATP13A2, PLA2G6
2neurodegeneration with brain iron accumulation 2b12.7
3osteopetrosis and infantile neuroaxonal dystrophy12.0
4karak syndrome11.3
5lupus erythematosus11.3
6breast reconstruction11.1
7apraxia11.0
8developmental coordination disorder11.0
9obsessive-compulsive personality disorder11.0
10neurodegeneration with brain iron accumulation 110.9
11hyperoxaluria, primary, type 110.6
12aplastic anemia10.6
13major depressive disorder and accelerated response to antidepressant drug treatment10.6
14citrullinemia10.6
15smith-lemli-opitz syndrome10.6
16diabetes mellitus, insulin-dependent10.6
17endogenous depression10.6
18epidermolysis bullosa simplex10.6
19kidney disease10.6
20hypoglycemia10.6
21foxp2-related speech and language disorders10.6
22childhood apraxia of speech10.6
23cluttering10.6
24salivary gland cancer, adult10.6
25developmental dyspraxia10.6
26spastic paraplegia 44, autosomal recessive10.1FA2H, PANK2
27pupil disease10.1NAGA, PANK2, PLA2G6
28gallbladder adenoma10.0APP, ATP13A2, RPS27A
29kufor-rakeb syndrome10.0ATP13A2, FBXO7, PLA2G6
30segmental dystonia10.0C19orf12, FTL
31cerebral folate receptor alpha deficiency10.0CP, FA2H, FTL
32glucose/galactose malabsorption10.0FA2H, FBXO7, PANK2, PLA2G6
33chondrodysplasia punctata, x-linked dominant10.0C19orf12, COASY, PANK2, PLA2G6
34pachyonychia congenita 110.0C19orf12, COASY, PANK2, PLA2G6
35hirschsprung disease 710.0C19orf12, COASY, PANK2, PLA2G6
36neurodegeneration with brain iron accumulation10.0
37waldenstroem's macroglobulinemia9.9ATP13A2, FBXO7, PANK2, PLA2G6
38herpes simplex encephalitis 79.9C19orf12, FA2H, FTL, PANK2, PLA2G6
39corneal endothelial dystrophy 2, autosomal recessive9.9C19orf12, FA2H, FTL, PANK2, PLA2G6
40klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism9.8ATP13A2, C19orf12, FBXO7, PANK2, PLA2G6
41neuroaxonal dystrophy9.8
42riedel's fibrosing thyroiditis9.8LGALS7, LGALS7B
43heart disease9.7
44cerebritis9.7
45prostatitis9.7
46placenta accreta9.7
47prostate cancer9.6
48cervicitis9.6
49intellectual disability9.6
50hereditary spastic paraplegia 519.6ATP13A2, C19orf12, COASY, FA2H, FTL, PANK2

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 micrognathia64 HP:0000347
2 hearing impairment64 HP:0000365
3 strabismus64 HP:0000486
4 visual loss64 HP:0000572
5 nystagmus64 HP:0000639
6 optic atrophy64 HP:0000648
7 abnormality of visual evoked potentials64 HP:0000649
8 decreased nerve conduction velocity64 HP:0000762
9 intellectual disability64 HP:0001249
10 seizures64 HP:0001250
11 ataxia64 HP:0001251
12 muscular hypotonia64 HP:0001252
13 global developmental delay64 HP:0001263
14 cerebellar atrophy64 HP:0001272
15 areflexia64 HP:0001284
16 hyperreflexia64 HP:0001347
17 abnormality of metabolism/homeostasis64 HP:0001939
18 frontal bossing64 HP:0002007
19 cerebral atrophy64 HP:0002059
20 morphological abnormality of the pyramidal tract64 HP:0002062
21 gliosis64 HP:0002171
22 neurodegeneration64 HP:0002180
23 unsteady gait64 HP:0002317
24 developmental regression64 HP:0002376
25 spastic tetraplegia64 HP:0002510
26 neuronal loss in central nervous system64 HP:0002529
27 short nose64 HP:0003196
28 generalized muscle weakness64 HP:0003324
29 emg64 HP:0003444
30 abnormal pyramidal signs64 HP:0007256
31 prominent forehead64 HP:0011220
32 visual impairment64 HP:0000505
33 cachexia64 HP:0004326

UMLS symptoms related to Infantile Neuroaxonal Dystrophy 1:


ataxia, seizures, abnormal pyramidal signs, 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 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_ 003560.3(PLA2G6): c.1117G> A (p.Gly373Arg)SNVPathogenic/ Likely pathogenicrs587784327GRCh37Chr 22, 38525530: 38525530
2PLA2G6NM_ 003560.3(PLA2G6): c.1351delC (p.Leu451Tyrfs)deletion, CompoundHeterozygotePathogenicrs587784329GRCh37Chr 22, 38522454: 38522454
3PLA2G6NG_ 007094.2: g.(69605_ 69653)_ (76237_ 76285)deldeletionPathogenicGRCh38Chr 22, 38134406: 38141086
4PLA2G6NM_ 003560.3(PLA2G6): c.109C> T (p.Arg37Ter)SNVPathogenicrs200075782GRCh37Chr 22, 38565325: 38565325
5PLA2G6NC_ 000022.10: g.(?_ 38565225)_ (38565478_ ?)deldeletionPathogenicGRCh37Chr 22, 38565225: 38565478
6PLA2G6NM_ 003560.3(PLA2G6): c.2370T> G (p.Tyr790Ter)SNVPathogenicrs121908680GRCh37Chr 22, 38508219: 38508219
7PLA2G6NM_ 003560.3(PLA2G6): c.929T> A (p.Val310Glu)SNVPathogenicrs121908682GRCh37Chr 22, 38528986: 38528986
8PLA2G6NM_ 003560.3(PLA2G6): c.2070_ 2072delTGT (p.Val691del)deletionPathogenicrs587784343GRCh37Chr 22, 38509624: 38509626
9PLA2G6NM_ 003560.3(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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Pathways related to Infantile Neuroaxonal Dystrophy 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.8COASY, PANK2

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
1mitochondrial outer membraneGO:00057419.2COASY, RPS27A, TOMM20
2extracellular spaceGO:00056158.5APP, CP, LGALS7, LGALS7B, PLA2G6, RPS27A
3extracellular exosomeGO:00700627.9APP, COASY, CP, FTL, LGALS7, LGALS7B

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1coenzyme A biosynthetic processGO:001593710.5COASY, PANK2
2coenzyme biosynthetic processGO:000910810.5COASY, PANK2
3metabolic processGO:00081529.9COASY, NAGA, PLA2G6, PNPLA2
4cellular protein metabolic processGO:00442679.8APP, CP, PNPLA2, RPS27A
5cellular iron ion homeostasisGO:00068799.7ATP13A2, CP, FTL, RPS27A
6protein targeting to mitochondrionGO:00066269.4FBXO7, TOMM20
7post-translational protein modificationGO:00436879.3APP, CP, FBXO7, PNPLA2

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