MCID: SPS153
MIFTS: 32

Spastic Paraplegia 35, Autosomal Recessive malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Gastrointestinal diseases, Bone diseases, Mental diseases categories

Aliases & Classifications for Spastic Paraplegia 35, Autosomal Recessive

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Spastic Paraplegia 35, Autosomal Recessive, Aliases & Descriptions:

Name: Spastic Paraplegia 35, Autosomal Recessive 45 10 41
Fatty Acid Hydroxylase-Associated Neurodegeneration 19 41 20 21 47 60
Fahn 41 21 47
Leukodystrophy, Dysmyelinating, and Spastic Paraparesis with or Without Dystonia 41 20
 
Spg35 41 47
Dysmyelinating Leukodystrophy and Spastic Paraparesis 21
Autosomal Recessive Spastic Paraplegia Type 35 47
Spastic Paraplegia 35 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
spg35:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM45 612319
Orphanet47 171629, 329308
ICD10 via Orphanet26 G11.4, G23.0

Summaries for Spastic Paraplegia 35, Autosomal Recessive

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OMIM:45 Autosomal recessive spastic paraplegia-35 is a complicated form of SPG characterized by childhood onset of gait... (612319) more...

MalaCards based summary: Spastic Paraplegia 35, Autosomal Recessive, also known as fatty acid hydroxylase-associated neurodegeneration, is related to spastic paraplegia 35 and hereditary spastic paraplegia, and has symptoms including autosomal recessive inheritance, urinary urgency and urinary incontinence. An important gene associated with Spastic Paraplegia 35, Autosomal Recessive 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.

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.

GeneReviews summary for fahn

Related Diseases for Spastic Paraplegia 35, Autosomal Recessive

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Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 13, Autosomal Dominant
Spastic Paraplegia 30, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 38, Autosomal Dominant Spastic Paraplegia 56, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 25, Autosomal Recessive
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 53, Autosomal Recessive Spastic Paraplegia 37, Autosomal Dominant
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 18, Autosomal Recessive
Spastic Paraplegia 5a, Autosomal Recessive Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 27, Autosomal Recessive Spastic Paraplegia 9, Autosomal Dominant
Spastic Paraplegia 33, Autosomal Dominant Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 10, Autosomal Dominant
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 24, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 32, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 6, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 51, Autosomal Recessive Spastic Paraplegia 61, Autosomal Recessive
spastic paraplegia 35, autosomal recessive Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 63
Spastic Paraplegia 64 Spastic Paraplegia 45
Spastic Paraplegia 3a, Autosomal Dominant Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 7
Spastic Paraplegia 8 Spastic Paraplegia 11
Spastic Paraplegia 1 Spastic Paraplegia 10
Spastic Paraplegia 12 Spastic Paraplegia 13
Spastic Paraplegia 14 Spastic Paraplegia 15
Spastic Paraplegia 16 Spastic Paraplegia 17
Spastic Paraplegia 18 Spastic Paraplegia 19
Spastic Paraplegia 2 Spastic Paraplegia 23
Spastic Paraplegia 24 Spastic Paraplegia 25
Spastic Paraplegia 26 Spastic Paraplegia 29
Spastic Paraplegia 3 Spastic Paraplegia 31
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia 33 Spastic Paraplegia 42
Spastic Paraplegia 30 Spastic Paraplegia 48
Spastic Paraplegia 35 Spastic Paraplegia 44
Autosomal Recessive Spastic Paraplegia Type 62 Autosomal Recessive Spastic Paraplegia Type 60
Autosomal Recessive Spastic Paraplegia Type 59 Autosomal Recessive Spastic Paraplegia Type 68
Autosomal Recessive Spastic Paraplegia Type 69 Autosomal Recessive Spastic Paraplegia Type 70
Autosomal Recessive Spastic Paraplegia Type 71 Autosomal Recessive Spastic Paraplegia Type 66
Autosomal Recessive Spastic Paraplegia Type 67 Autosomal Recessive Spastic Paraplegia Type 58

Diseases related to Spastic Paraplegia 35, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 3510.4
2hereditary spastic paraplegia10.2
3paraplegia10.2
4spasticity10.2
5lateral sclerosis10.1
6spastic paraplegia 5a, autosomal recessive10.1

Graphical network of diseases related to Spastic Paraplegia 35, Autosomal Recessive:



Diseases related to spastic paraplegia 35, autosomal recessive

Symptoms for Spastic Paraplegia 35, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

612319

Clinical features from OMIM:

612319

HPO human phenotypes related to Spastic Paraplegia 35, Autosomal Recessive:

(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 Spastic Paraplegia 35, Autosomal Recessive

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Drug clinical trials:

Search ClinicalTrials for Spastic Paraplegia 35, Autosomal Recessive

Search NIH Clinical Center for Spastic Paraplegia 35, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 35, Autosomal Recessive

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Genetic tests related to Spastic Paraplegia 35, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Fatty Acid Hydroxylase-Associated Neurodegeneration20 FA2H
2 Dysmyelinating Leukodystrophy and Spastic Paraparesis with or Without Dystonia20

Anatomical Context for Spastic Paraplegia 35, Autosomal Recessive

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MalaCards organs/tissues related to Spastic Paraplegia 35, Autosomal Recessive:

31
Brain, Eye

Animal Models for Spastic Paraplegia 35, Autosomal Recessive or affiliated genes

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MGI Mouse Phenotypes related to Spastic Paraplegia 35, Autosomal Recessive:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1FAAH, FA2H

Publications for Spastic Paraplegia 35, Autosomal Recessive

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Variations for Spastic Paraplegia 35, Autosomal Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 35, Autosomal Recessive:

62
id Symbol AA change Variation ID SNP ID
1FA2Hp.Asp35TyrVAR_054893
2FA2Hp.Arg235CysVAR_064621
3FA2Hp.Arg154CysVAR_065245

Clinvar genetic disease variations for Spastic Paraplegia 35, Autosomal Recessive:

6
id Gene Variation 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 Spastic Paraplegia 35, Autosomal Recessive

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Search GEO for disease gene expression data for Spastic Paraplegia 35, Autosomal Recessive.

Pathways for genes affiliated with Spastic Paraplegia 35, Autosomal Recessive

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Compounds for genes affiliated with Spastic Paraplegia 35, Autosomal Recessive

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Sources:
59Tocris Bioscience, 43Novoseek
See all sources

Compounds related to Spastic Paraplegia 35, Autosomal Recessive according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1pf 3845599.2FAAH, FA2H
2sa 57599.1FA2H, FAAH
3fatty acid439.1FAAH, FA2H
4jnj 1661010599.0FA2H, FAAH
5tc-f 2598.8FA2H, FAAH

GO Terms for genes affiliated with Spastic Paraplegia 35, Autosomal Recessive

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Products for genes affiliated with Spastic Paraplegia 35, Autosomal Recessive

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  • Antibodies
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  • Kits and Assays

Sources for Spastic Paraplegia 35, Autosomal Recessive

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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