INAD
MCID: NRX003
MIFTS: 39

Neuroaxonal Dystrophy, Infantile (INAD) malady

Neuronal category

Summaries for Neuroaxonal Dystrophy, Infantile

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Neuroaxonal Dystrophy, Infantile, also known as infantile neuroaxonal dystrophy, is related to neuroaxonal dystrophy and osteopetrosis and infantile neuroaxonal dystrophy. An important gene associated with Neuroaxonal Dystrophy, Infantile is NAGA (N-acetylgalactosaminidase, alpha-), and among its related pathways is Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. The compounds thioflavine s and formate have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and retina.

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.

NINDS:44 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.

Wikipedia:64 Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the... more...

Aliases & Classifications for Neuroaxonal Dystrophy, Infantile

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43NIH Rare Diseases, 45Novoseek, 21Genetics Home Reference, 20GeneTests, 22GTR, 44NINDS, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

neuroaxonal dystrophy, infantile 43 45
infantile neuroaxonal dystrophy 43 20 22 21 44 61
seitelberger disease 43 21 44
inad 43 21
neurodegeneration with brain iron accumulation, pla2g6-related 21
seitelberger's disease 21
nbia, pla2g6-related 21


Related Diseases for Neuroaxonal Dystrophy, Infantile

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Neuroaxonal Dystrophy, Infantile:



Diseases related to neuroaxonal dystrophy, infantile

Clinical Features for Neuroaxonal Dystrophy, Infantile

Drugs & Therapeutics for Neuroaxonal Dystrophy, Infantile

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Genetic Tests for Neuroaxonal Dystrophy, Infantile

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20GeneTests, 22GTR
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Genetic tests related to Neuroaxonal Dystrophy, Infantile:

id Genetic test Affiliating Genes
1 Infantile Neuroaxonal Dystrophy20 22

Anatomical Context for Neuroaxonal Dystrophy, Infantile

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33MalaCards
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MalaCards organs/tissues related to Neuroaxonal Dystrophy, Infantile:

33
Brain, Cortex, Retina, Skeletal muscle, Skin

Animal Models for Neuroaxonal Dystrophy, Infantile or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Neuroaxonal Dystrophy, Infantile

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51PubMed
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Articles related to Neuroaxonal Dystrophy, Infantile:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6. (22442204)
2012
2
MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up. (24059609)
2011
3
Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy. (20813170)
2010
4
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. (19138334)
2009
5
Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6. (19893029)
2009
6
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. (17254819)
2007
7
PLA2G6 mutation underlies infantile neuroaxonal dystrophy. (17033970)
2006
8
Cerebellar hypoperfusion in infantile neuroaxonal dystrophy. (15664778)
2005
9
Dysmorphic face in two siblings with infantile neuroaxonal dystrophy. (12558119)
2002
10
Distal infantile neuroaxonal dystrophy--a new familial variant with perineuronal argyrophilic bodies. (11547955)
2001
11
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
12
Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria. (10227637)
1999
13
Conjunctival biopsy in infantile neuroaxonal dystrophy. (9186140)
1997
14
Ultrastructure and immunoreactivity of dystrophic axons indicate a different pathogenesis of Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. (8548127)
1995
15
Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder. (7577667)
1995
16
Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency. (8523030)
1995
17
Infantile neuroaxonal dystrophy: axonal changes in biopsied muscle tissue. (8216545)
1993
18
Terminal axon pathology in infantile neuroaxonal dystrophy. (2059251)
1991
19
Skin biopsy is useful for diagnosis of infantile neuroaxonal dystrophy. (2375627)
1990
20
Early cerebellar degeneration in twins with infantile neuroaxonal dystrophy. (2540694)
1989
21
Ultrastructural muscle pathology in infantile neuroaxonal dystrophy. (3239699)
1988
22
Pathology of skeletal muscle and intramuscular nerves in infantile neuroaxonal dystrophy. (3962588)
1986
23
Histological and ultrastructural features of dystrophic isocortical axons in infantile neuroaxonal dystrophy (Seitelberger's disease). (4013671)
1985
24
Examination of dental pulp to diagnose infantile neuroaxonal dystrophy. (7103775)
1982
25
Reduction of neuronal specific protein and some neurotransmitters in the infantile neuroaxonal dystrophy (INAD). (6127648)
1982
26
Late infantile neuroaxonal dystrophy. An unusual case with predominantly myoclonic-epileptic symptomatology. (6789439)
1981
27
Rectal biopsy findings in infantile neuroaxonal dystrophy. (7207709)
1980
28
Infantile neuroaxonal dystrophy and giant axonal neuropathy: are they related? (575280)
1979
29
Skin and conjunctival biopsies in infantile neuroaxonal dystrophy. (442990)
1979
30
Infantile neuroaxonal dystrophy. (509195)
1979
31
Infantile neuroaxonal dystrophy and related disorders. (80340)
1978
32
Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy. (671062)
1978
33
Cerebral cortical isolation in infantile neuroaxonal dystrophy. (69528)
1977
34
Infantile neuroaxonal dystrophy (Seitelberger's disease). A light and ultrastructural study. (1138528)
1975
35
An analysis of the ultrastructural findings in infantile neuroaxonal dystrophy (Seitelberger's disease). (4842105)
1974
36
Infantile neuroaxonal dystrophy. Histological and electron microscopical study of two cases. (4446941)
1974
37
Infantile neuroaxonal dystrophy or Seitelberger's disease. IV. Autonomic nervous system involvement: electron microscopic study in two siblings. (4372850)
1974
38
Seitelberger's infantile neuroaxonal dystrophy. A case report. (4712541)
1973
39
Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Ultrastructural observations, anatomical pathology and nosology. (4355342)
1973
40
Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Clinical characteristics and nosological considerations. (4712933)
1973
41
Infantile neuroaxonal dystrophy. Ultrastructural study of the peripheral nerves and of the motor end plates. (5084906)
1972
42
Infantile neuroaxonal dystrophy or Seitelberger's disease. II. Peripheral nerve involvement: electron microscopic study in one case. (4327376)
1971
43
Infantile neuroaxonal dystrophy. (5507737)
1970
44
Peripheral nerve biopsy as an aid to diagnosis in infantile neuroaxonal dystrophy. (5528549)
1970
45
Infantile neuroaxonal dystrophy. A disease characterized by altered terminal axons and synaptic endings. (4176658)
1968
46
Infantile neuroaxonal dystrophy with neonatal onset. Neuropathologic and electron microscopic observations. (5646198)
1968
47
Infantile neuroaxonal dystrophy. Clinical, pathologic, and histochemical findings in a family with 3 affected siblings. (6070019)
1967
48
Infantile neuroaxonal dystrophy. (Seitelberger's disease). Report of an autopsy case. (5886195)
1965
49
Infantile neuroaxonal dystrophy. (5829994)
1965
50
Infantile neuroaxonal dystrophy. (14023529)
1963

Genetic Variations for Neuroaxonal Dystrophy, Infantile

Expression for genes affiliated with Neuroaxonal Dystrophy, Infantile

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neuroaxonal Dystrophy, Infantile

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Pathways for genes affiliated with Neuroaxonal Dystrophy, Infantile

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54Reactome
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Pathways related to Neuroaxonal Dystrophy, Infantile according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.1APP, RPS27A

Compounds for genes affiliated with Neuroaxonal Dystrophy, Infantile

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45Novoseek, 24HMDB, 2BitterDB, 50PharmGKB, 29IUPHAR, 11DrugBank
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Compounds related to Neuroaxonal Dystrophy, Infantile according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1thioflavine s459.5APP, RPS27A
2formate459.4RPS27A, APP
36-hydroxydopamine459.4APP, RPS27A
44-hydroxynonenal45 2410.4RPS27A, APP
5chloroquine45 2 50 29 1113.4APP, RPS27A
6lactacystin459.4APP, RPS27A
7sodium dodecylsulfate459.4APP, RPS27A
8thymidylate459.4RPS27A, APP
9formaldehyde45 2410.3APP, RPS27A
10curcumin459.3RPS27A, APP
11valine459.2APP, RPS27A
12carbohydrates459.2NAGA, RPS27A
13tacrolimus45 50 1111.2RPS27A, APP
14epinephrine45 11 2411.1APP, RPS27A
15glycerol45 11 2411.0NAGA, RPS27A
16aspirin45 50 29 2412.0APP, RPS27A
17gaba458.8APP, RPS27A
18carbon458.8NAGA, APP, RPS27A

GO Terms for genes affiliated with Neuroaxonal Dystrophy, Infantile

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16Gene Ontology
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Biological processes related to Neuroaxonal Dystrophy, Infantile according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Notch signaling pathwayGO:0072199.1APP, RPS27A
2nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358728.8APP, RPS27A

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Sources for Neuroaxonal Dystrophy, Infantile

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet