FAHN
MCID: FTT002
MIFTS: 32

Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories
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Summaries for Fatty Acid Hydroxylase-Associated Neurodegeneration

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21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with movement and vision that begin during childhood or adolescence.

MalaCards: Fatty Acid Hydroxylase-Associated Neurodegeneration, also known as FAHN, is related to spastic paraplegia 35 and hereditary spastic paraplegia. An important gene associated with Fatty Acid Hydroxylase-Associated Neurodegeneration is FA2H (fatty acid 2-hydroxylase). The compounds pf 3845 and sa 57 have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related mouse phenotype behavior/neurological.

Description from OMIM:47 612319

GeneReviews summary for fahn

Aliases & Classifications for Fatty Acid Hydroxylase-Associated Neurodegeneration

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
spg35:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

fatty acid hydroxylase-associated neurodegeneration 19 43 20 21 49
fahn 43 21 49
spastic paraplegia 35, autosomal recessive 43 47
spg35 43 49
dysmyelinating leukodystrophy and spastic paraparesis 21
autosomal recessive spastic paraplegia type 35 49
spastic paraplegia 35 21


External Ids:

OMIM47 612319
ICD10 via Orphanet26 G11.4, G23.0

Related Diseases for Fatty Acid Hydroxylase-Associated Neurodegeneration

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17GeneCards, 18GeneDecks
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Diseases related to Fatty Acid Hydroxylase-Associated Neurodegeneration via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 3510.5
2hereditary spastic paraplegia10.2
3paraplegia10.2
4spasticity10.2
5lateral sclerosis10.1
6amyotrophic lateral sclerosis10.1
7spastic paraplegia 5a, autosomal recessive10.0

Graphical network of diseases related to Fatty Acid Hydroxylase-Associated Neurodegeneration:



Diseases related to fatty acid hydroxylase-associated neurodegeneration

Symptoms for Fatty Acid Hydroxylase-Associated Neurodegeneration

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47OMIM
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Symptoms by clinical synopsis from OMIM:

612319

Clinical features from OMIM:

612319

Drugs & Therapeutics for Fatty Acid Hydroxylase-Associated Neurodegeneration

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Fatty Acid Hydroxylase-Associated Neurodegeneration

Search NIH Clinical Center for Fatty Acid Hydroxylase-Associated Neurodegeneration

Genetic Tests for Fatty Acid Hydroxylase-Associated Neurodegeneration

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20GeneTests
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Genetic tests related to Fatty Acid Hydroxylase-Associated Neurodegeneration:

id Genetic test Affiliating Genes
1 Fatty Acid Hydroxylase-Associated Neurodegeneration20 FA2H

Anatomical Context for Fatty Acid Hydroxylase-Associated Neurodegeneration

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33MalaCards
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MalaCards organs/tissues related to Fatty Acid Hydroxylase-Associated Neurodegeneration:

33
Brain, Eye

Animal Models for Fatty Acid Hydroxylase-Associated Neurodegeneration or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Fatty Acid Hydroxylase-Associated Neurodegeneration:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1FAAH, FA2H

Publications for Fatty Acid Hydroxylase-Associated Neurodegeneration

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52PubMed
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Articles related to Fatty Acid Hydroxylase-Associated Neurodegeneration:

idTitleAuthorsYear
1
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. (22146942)
2012
2
Fatty Acid Hydroxylase-Associated Neurodegeneration (21735565)
1993

Variations for Fatty Acid Hydroxylase-Associated Neurodegeneration

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Fatty Acid Hydroxylase-Associated Neurodegeneration:

64
id Symbol AA change Variation ID SNP ID
1FA2Hp.Asp35TyrVAR_054893
2FA2Hp.Arg235CysVAR_064621
3FA2Hp.Arg154CysVAR_065245

Clinvar genetic disease variations for Fatty Acid Hydroxylase-Associated Neurodegeneration:

1
id Gene Name Type Significance SNP ID Assembly Location
1FA2HFA2H, IVS5DS, G-A, +1single nucleotide variantPathogenic
2FA2HNM_024306.4(FA2H): c.103G> T (p.Asp35Tyr)single nucleotide variantPathogenicrs121918217GRCh37Chr 16, 74808551: 74808551
3FA2HNM_024306.4(FA2H): c.703C> T (p.Arg235Cys)single nucleotide variantPathogenicrs387907039GRCh37Chr 16, 74752969: 74752969
4FA2HFA2H, 18-BP DELdeletionPathogenic
5FA2HNM_024306.4(FA2H): c.460C> T (p.Arg154Cys)single nucleotide variantPathogenicrs387907040GRCh37Chr 16, 74761188: 74761188
6FA2HFA2H, 2-BP DEL, 509ACdeletionPathogenic
7FA2HNM_024306.4(FA2H): c.707T> C (p.Phe236Ser)single nucleotide variantPathogenicrs387907172GRCh37Chr 16, 74752965: 74752965
8FA2HFA2H, 28-KB DELdeletionPathogenic

Expression for genes affiliated with Fatty Acid Hydroxylase-Associated Neurodegeneration

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fatty Acid Hydroxylase-Associated Neurodegeneration

Search GEO for disease gene expression data for Fatty Acid Hydroxylase-Associated Neurodegeneration.

Pathways for genes affiliated with Fatty Acid Hydroxylase-Associated Neurodegeneration

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Compounds for genes affiliated with Fatty Acid Hydroxylase-Associated Neurodegeneration

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61Tocris Bioscience, 45Novoseek
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Compounds related to Fatty Acid Hydroxylase-Associated Neurodegeneration according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pf 3845619.2FAAH, FA2H
2sa 57619.1FA2H, FAAH
3fatty acid459.1FAAH, FA2H
4jnj 1661010619.0FA2H, FAAH
5tc-f 2618.8FA2H, FAAH

GO Terms for genes affiliated with Fatty Acid Hydroxylase-Associated Neurodegeneration

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Products for genes affiliated with Fatty Acid Hydroxylase-Associated Neurodegeneration

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fatty Acid Hydroxylase-Associated Neurodegeneration

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet