FAHN
MCID: FTT002
MIFTS: 33

Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN) malady

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

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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 based summary: Fatty Acid Hydroxylase-Associated Neurodegeneration, also known as FAHN, is related to spastic paraplegia 35 and hereditary spastic paraplegia, and has symptoms including 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:46 612319

GeneReviews summary for fahn

Aliases & Classifications for Fatty Acid Hydroxylase-Associated Neurodegeneration

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Fatty Acid Hydroxylase-Associated Neurodegeneration, Aliases & Descriptions:

Name: Fatty Acid Hydroxylase-Associated Neurodegeneration 19 42 20 21 48 62
Fahn 42 21 48
Spastic Paraplegia 35, Autosomal Recessive 42 46
Spastic Paraplegia 35 21 62
 
Spg35 42 48
Dysmyelinating Leukodystrophy and Spastic Paraparesis 21
Autosomal Recessive Spastic Paraplegia Type 35 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
spg35:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

ICD10 via Orphanet26 G11.4, G23.0
OMIM46 612319

Related Diseases for Fatty Acid Hydroxylase-Associated Neurodegeneration

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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 3510.6
2hereditary spastic paraplegia10.2
3paraplegia10.2
4spasticity10.2
5amyotrophic lateral sclerosis10.1
6lateral sclerosis10.1
7spastic paraplegia 5a, autosomal recessive10.1

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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Symptoms by clinical synopsis from OMIM:

612319

Clinical features from OMIM:

612319

HPO human phenotypes related to Fatty Acid Hydroxylase-Associated Neurodegeneration:

(show all 24)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 urinary urgency HP:0000012
3 urinary incontinence HP:0000020
4 strabismus HP:0000486
5 external ophthalmoplegia HP:0000544
6 nystagmus HP:0000639
7 optic atrophy HP:0000648
8 intellectual disability HP:0001249
9 seizures HP:0001250
10 dysarthria HP:0001260
11 mental deterioration HP:0001268
12 cerebellar atrophy HP:0001272
13 spastic tetraparesis HP:0001285
14 dysmetria HP:0001310
15 dystonia HP:0001332
16 hyperreflexia HP:0001347
17 lower limb spasticity HP:0002061
18 hypoplasia of the corpus callosum HP:0002079
19 difficulty walking HP:0002355
20 abnormality of the periventricular white matter HP:0002518
21 babinski sign HP:0003487
22 progressive disorder HP:0003676
23 dysmyelinating leukodystrophy HP:0006978
24 ankle clonus HP:0011448

Drugs & Therapeutics for Fatty Acid Hydroxylase-Associated Neurodegeneration

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

32
Brain, Eye

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1FAAH, FA2H

Publications for Fatty Acid Hydroxylase-Associated Neurodegeneration

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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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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:

6
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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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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Sources:
61Tocris Bioscience, 44Novoseek
See all sources

Compounds related to Fatty Acid Hydroxylase-Associated Neurodegeneration according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pf 3845619.2FAAH, FA2H
2sa 57619.1FA2H, FAAH
3fatty acid449.1FAAH, 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

Sources for Fatty Acid Hydroxylase-Associated Neurodegeneration

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet