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

Aliases & Descriptions for Infantile Neuroaxonal Dystrophy 1:

Name: Infantile Neuroaxonal Dystrophy 1 54 12 66 13
Infantile Neuroaxonal Dystrophy 50 24 25 51 66 29 69
Seitelberger Disease 12 50 24 25 51 66
Neurodegeneration with Brain Iron Accumulation 2a 12 24 66 14
Inad 50 24 25 66
Pla2g6-Associated Neurodegeneration 23 50 24
Nbia2a 12 24 66
Plan 23 24 66
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related 50 25
Neuroaxonal Dystrophy, Infantile 50 52
Pla2g6-Related Disorders 23 24
Inad1 12 66
Infantile Neuroaxonal Dystrophy/atypical Neuroaxonal Dystrophy 50
Neurodegeneration with Brain Iron Accumulation 2b 50
Neurodegeneration with Brain Iron Accumulation 2 69
Neurodegeneration, Pla2g6-Associated 12
Neurodegeneration Pla2g6-Associated 66
Neuroaxonal Dystrophy, Atypical 50
Karak Syndrome, Included 50
Neuroaxonal Dystrophies 69
Seitelberger's Disease 25
Nbia, Pla2g6-Related 25
Nbia2b 50
Nbia2 23

Characteristics:

HPO:

32
infantile neuroaxonal dystrophy 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 256600
Disease Ontology 12 DOID:0110735
ICD10 33 G23.0
MeSH 42 D019150

Summaries for Infantile Neuroaxonal Dystrophy 1

NINDS : 51 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, cachexia and seizures. An important gene associated with Infantile Neuroaxonal Dystrophy 1 is PLA2G6 (Phospholipase A2 Group VI), and among its related pathways/superpathways is Pantothenate and CoA biosynthesis. Affiliated tissues include brain, skin and eye.

NIH Rare Diseases : 50 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 : 66 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 : 54 Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by... (256600) more...

Disease Ontology : 12 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: NBK1675

Related Diseases for Infantile Neuroaxonal Dystrophy 1

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)
id Related Disease Score Top Affiliating Genes
1 thrombosis 29.4 ATP13A2 PLA2G6
2 neurodegeneration with brain iron accumulation 2b 12.7
3 osteopetrosis and infantile neuroaxonal dystrophy 12.0
4 karak syndrome 11.3
5 lupus erythematosus 11.3
6 breast reconstruction 11.1
7 apraxia 11.0
8 developmental coordination disorder 11.0
9 obsessive-compulsive personality disorder 11.0
10 neurodegeneration with brain iron accumulation 1 10.9
11 major depressive disorder and accelerated response to antidepressant drug treatment 10.6
12 kidney disease 10.6
13 developmental dyspraxia 10.6
14 citrullinemia 10.6
15 hyperoxaluria, primary, type 1 10.6
16 salivary gland cancer, adult 10.6
17 smith-lemli-opitz syndrome 10.6
18 hypoglycemia 10.6
19 aplastic anemia 10.6
20 epidermolysis bullosa simplex 10.6
21 foxp2-related speech and language disorders 10.6
22 endogenous depression 10.6
23 childhood apraxia of speech 10.6
24 diabetes mellitus, insulin-dependent 10.6
25 cluttering 10.6
26 spastic paraplegia 44, autosomal recessive 10.1 FA2H PANK2
27 pupil disease 10.1 NAGA PANK2 PLA2G6
28 gallbladder adenoma 10.0 APP ATP13A2 RPS27A
29 kufor-rakeb syndrome 10.0 ATP13A2 FBXO7 PLA2G6
30 segmental dystonia 10.0 C19orf12 FTL
31 cerebral folate receptor alpha deficiency 10.0 CP FA2H FTL
32 glucose/galactose malabsorption 10.0 FA2H FBXO7 PANK2 PLA2G6
33 chondrodysplasia punctata, x-linked dominant 10.0 C19orf12 COASY PANK2 PLA2G6
34 pachyonychia congenita 1 10.0 C19orf12 COASY PANK2 PLA2G6
35 hirschsprung disease 7 10.0 C19orf12 COASY PANK2 PLA2G6
36 neurodegeneration with brain iron accumulation 10.0
37 waldenstroem's macroglobulinemia 9.9 ATP13A2 FBXO7 PANK2 PLA2G6
38 herpes simplex encephalitis 7 9.9 C19orf12 FA2H FTL PANK2 PLA2G6
39 corneal endothelial dystrophy 2, autosomal recessive 9.9 C19orf12 FA2H FTL PANK2 PLA2G6
40 klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism 9.8 ATP13A2 C19orf12 FBXO7 PANK2 PLA2G6
41 neuroaxonal dystrophy 9.8
42 riedel's fibrosing thyroiditis 9.8 LGALS7 LGALS7B
43 cerebritis 9.7
44 heart disease 9.7
45 prostatitis 9.7
46 placenta accreta 9.7
47 cervicitis 9.6
48 prostate cancer 9.6
49 intellectual disability 9.6
50 hereditary spastic paraplegia 51 9.6 ATP13A2 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

Symptoms by clinical synopsis from OMIM:

256600

Clinical features from OMIM:

256600

Human phenotypes related to Infantile Neuroaxonal Dystrophy 1:

32 (show all 33)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 cachexia 32 HP:0004326
3 seizures 32 HP:0001250
4 abnormal pyramidal signs 32 HP:0007256
5 generalized muscle weakness 32 HP:0003324
6 frontal bossing 32 HP:0002007
7 nystagmus 32 HP:0000639
8 intellectual disability 32 HP:0001249
9 muscular hypotonia 32 HP:0001252
10 hyperreflexia 32 HP:0001347
11 developmental regression 32 HP:0002376
12 hearing impairment 32 HP:0000365
13 global developmental delay 32 HP:0001263
14 short nose 32 HP:0003196
15 visual impairment 32 HP:0000505
16 optic atrophy 32 HP:0000648
17 abnormality of visual evoked potentials 32 HP:0000649
18 spastic tetraplegia 32 HP:0002510
19 prominent forehead 32 HP:0011220
20 abnormality of metabolism/homeostasis 32 HP:0001939
21 micrognathia 32 HP:0000347
22 strabismus 32 HP:0000486
23 decreased nerve conduction velocity 32 HP:0000762
24 visual loss 32 HP:0000572
25 neurodegeneration 32 HP:0002180
26 areflexia 32 HP:0001284
27 cerebellar atrophy 32 HP:0001272
28 cerebral atrophy 32 HP:0002059
29 unsteady gait 32 HP:0002317
30 neuronal loss in central nervous system 32 HP:0002529
31 gliosis 32 HP:0002171
32 emg 32 HP:0003444
33 morphological abnormality of the pyramidal tract 32 HP:0002062

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

Search Clinical Trials , NIH Clinical Center for Infantile Neuroaxonal Dystrophy 1

Genetic Tests for Infantile Neuroaxonal Dystrophy 1

Genetic tests related to Infantile Neuroaxonal Dystrophy 1:

id Genetic test Affiliating Genes
1 Infantile Neuroaxonal Dystrophy 29 24
2 Pla2g6-Associated Neurodegeneration 24 PLA2G6

Anatomical Context for Infantile Neuroaxonal Dystrophy 1

MalaCards organs/tissues related to Infantile Neuroaxonal Dystrophy 1:

39
Brain, Skin, Eye

Publications for Infantile Neuroaxonal Dystrophy 1

Variations for Infantile Neuroaxonal Dystrophy 1

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

66
id Symbol AA change Variation ID SNP ID
1 PLA2G6 p.Val310Glu VAR_029371 rs121908682
2 PLA2G6 p.Asp484Gly VAR_070600
3 PLA2G6 p.Thr661Met VAR_070601 rs767689496

ClinVar genetic disease variations for Infantile Neuroaxonal Dystrophy 1:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 PLA2G6 NM_003560.3(PLA2G6): c.2370T> G (p.Tyr790Ter) single nucleotide variant Pathogenic rs121908680 GRCh37 Chromosome 22, 38508219: 38508219
2 PLA2G6 NM_003560.3(PLA2G6): c.1634A> C (p.Lys545Thr) single nucleotide variant Pathogenic rs121908681 GRCh37 Chromosome 22, 38516874: 38516874
3 PLA2G6 NM_003560.3(PLA2G6): c.929T> A (p.Val310Glu) single nucleotide variant Pathogenic rs121908682 GRCh37 Chromosome 22, 38528986: 38528986
4 PLA2G6 NM_003560.3(PLA2G6): c.2070_2072delTGT (p.Val691del) deletion Pathogenic rs587784343 GRCh37 Chromosome 22, 38509624: 38509626
5 PLA2G6 NM_003560.3(PLA2G6): c.2370_2371delTG (p.Tyr790Terfs) deletion Pathogenic rs587784353 GRCh38 Chromosome 22, 38112211: 38112212
6 PLA2G6 NM_003560.3(PLA2G6): c.238G> A (p.Ala80Thr) single nucleotide variant Pathogenic rs121908685 GRCh37 Chromosome 22, 38541632: 38541632
7 PLA2G6 NG_007094.2: g.(69605_69653)_(76237_76285)del deletion Pathogenic GRCh38 Chromosome 22, 38134406: 38141086
8 PLA2G6 NM_003560.3(PLA2G6): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs200075782 GRCh37 Chromosome 22, 38565325: 38565325
9 PLA2G6 NM_003560.3(PLA2G6): c.1351delC (p.Leu451Tyrfs) deletion Pathogenic rs587784329 GRCh37 Chromosome 22, 38522454: 38522454
10 PLA2G6 NM_003560.3(PLA2G6): c.1117G> A (p.Gly373Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587784327 GRCh37 Chromosome 22, 38525530: 38525530
11 PLA2G6 NM_003560.3(PLA2G6): c.1349-2A> G single nucleotide variant Pathogenic rs797045888 GRCh38 Chromosome 22, 38126451: 38126451
12 PLA2G6 NC_000022.10: g.(?_38565225)_(38565478_?)del deletion Pathogenic GRCh37 Chromosome 22, 38565225: 38565478

Expression for Infantile Neuroaxonal Dystrophy 1

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

Pathways for Infantile Neuroaxonal Dystrophy 1

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

id Super pathways Score Top Affiliating Genes
1 9.88 COASY PANK2

GO Terms for Infantile Neuroaxonal Dystrophy 1

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.63 APP CP LGALS7 LGALS7B PLA2G6 RPS27A
2 extracellular exosome GO:0070062 9.56 APP COASY CP FTL LGALS7 LGALS7B
3 mitochondrial outer membrane GO:0005741 8.8 COASY RPS27A TOMM20

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

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.71 COASY NAGA PLA2G6 PNPLA2
2 post-translational protein modification GO:0043687 9.62 APP CP FBXO7 PNPLA2
3 cellular protein metabolic process GO:0044267 9.46 APP CP PNPLA2 RPS27A
4 protein targeting to mitochondrion GO:0006626 9.37 FBXO7 TOMM20
5 coenzyme A biosynthetic process GO:0015937 9.26 COASY PANK2
6 coenzyme biosynthetic process GO:0009108 8.96 COASY PANK2
7 cellular iron ion homeostasis GO:0006879 8.92 ATP13A2 CP FTL RPS27A

Sources for Infantile Neuroaxonal Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....