MCID: INF069
MIFTS: 36

Infantile Neuroaxonal Dystrophy 1 malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Infantile Neuroaxonal Dystrophy 1

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NIH Rare Diseases:41 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 neuroaxonal dystrophy 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 (cytosolic, calcium-independent)). Affiliated tissues include brain, eye and skin.

NINDS:42 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.

Genetics Home Reference:21 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:45 Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by... (256600) more...

GeneReviews summary for inad

Aliases & Classifications for Infantile Neuroaxonal Dystrophy 1

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Infantile Neuroaxonal Dystrophy 1, Aliases & Descriptions:

Name: Infantile Neuroaxonal Dystrophy 1 45 10
Infantile Neuroaxonal Dystrophy 41 20 21 42 22 60
Seitelberger Disease 41 21 42
Phospholipase A2-Associated Neurodegeneration 41 22
Pla2g6-Associated Neurodegeneration 19 20
Neuroaxonal Dystrophy, Infantile 41 43
Plan 19 41
Inad 41 21
 
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related 21
Neurodegeneration with Brain Iron Accumulation 2a 45
Pla2g6-Related Disorders 19
Seitelberger's Disease 21
Nbia, Pla2g6-Related 21
Nbia2 19
Inad1 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

OMIM45 256600

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:

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Clinical features from OMIM:

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HPO human phenotypes related to Infantile Neuroaxonal Dystrophy 1:

(show all 39)
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 autosomal recessive inheritance HP:0000007
11 micrognathia HP:0000347
12 hearing impairment HP:0000365
13 strabismus HP:0000486
14 visual loss HP:0000572
15 nystagmus HP:0000639
16 optic atrophy HP:0000648
17 abnormality of vision evoked potentials HP:0000649
18 intellectual disability HP:0001249
19 seizures HP:0001250
20 ataxia HP:0001251
21 muscular hypotonia HP:0001252
22 global developmental delay HP:0001263
23 cerebellar atrophy HP:0001272
24 hyperreflexia HP:0001347
25 abnormality of metabolism/homeostasis HP:0001939
26 frontal bossing HP:0002007
27 cerebral atrophy HP:0002059
28 morphological abnormality of the pyramidal tract HP:0002062
29 gliosis HP:0002171
30 neurodegeneration HP:0002180
31 unsteady gait HP:0002317
32 developmental regression HP:0002376
33 spastic tetraplegia HP:0002510
34 neuronal loss in central nervous system HP:0002529
35 short nose HP:0003196
36 generalized muscle weakness HP:0003324
37 emg HP:0003444
38 infantile onset HP:0003593
39 prominent forehead HP:0011220

Drugs & Therapeutics for Infantile Neuroaxonal Dystrophy 1

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Drug clinical trials:

Search ClinicalTrials for Infantile Neuroaxonal Dystrophy 1

Search 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 Neurodegeneration20 PLA2G6
2 Infantile Neuroaxonal Dystrophy20 22
3 Phospholipase A2-Associated Neurodegeneration (plan)22

Anatomical Context for Infantile Neuroaxonal Dystrophy 1

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MalaCards organs/tissues related to Infantile Neuroaxonal Dystrophy 1:

31
Brain, Eye, Skin

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:

62
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PLA2G6PLA2G6, 6.6-KB DELdeletionPathogenic
2PLA2G6NM_003560.2(PLA2G6): c.109C> T (p.Arg37Ter)single nucleotide variantPathogenicrs200075782GRCh37Chr 22, 38565325: 38565325
3PLA2G6NM_003560.2(PLA2G6): c.2370T> G (p.Tyr790Ter)single nucleotide variantPathogenicrs121908680GRCh37Chr 22, 38508219: 38508219
4PLA2G6NM_003560.2(PLA2G6): c.929T> A (p.Val310Glu)single nucleotide variantPathogenicrs121908682GRCh37Chr 22, 38528986: 38528986
5PLA2G6PLA2G6, 2-BP DEL, 2070TGTdeletionPathogenic
6PLA2G6PLA2G6, 2-BP DEL, 2370TGdeletionPathogenic

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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Compounds 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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Products for genes affiliated with Infantile Neuroaxonal Dystrophy 1

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  • Antibodies
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Sources for Infantile Neuroaxonal Dystrophy 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet