MCID: SPS153
MIFTS: 29

Spastic Paraplegia 35, Autosomal Recessive malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Gastrointestinal diseases, Bone diseases, Mental diseases

Aliases & Classifications for Spastic Paraplegia 35, Autosomal Recessive

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Aliases & Descriptions for Spastic Paraplegia 35, Autosomal Recessive:

Name: Spastic Paraplegia 35, Autosomal Recessive 50 46 68 12
Fatty Acid Hydroxylase-Associated Neurodegeneration 22 46 23 24 52 68 66
Fahn 46 24 52 68
Spg35 46 52 68
Leukodystrophy, Dysmyelinating, and Spastic Paraparesis with or Without Dystonia 46 66
 
Dysmyelinating Leukodystrophy and Spastic Paraparesis with or Without Dystonia 23
Leukodystrophy Dysmyelinating and Spastic Paraparesis with or Without Dystonia 68
Dysmyelinating Leukodystrophy and Spastic Paraparesis 24
Autosomal Recessive Spastic Paraplegia Type 35 52
Spastic Paraplegia 35 24

Characteristics:

Orphanet epidemiological data:

52
spg35:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: adolescent,adult
fatty acid hydroxylase-associated neurodegeneration:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood

HPO:

62
spastic paraplegia 35, autosomal recessive:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive


Classifications:



External Ids:

OMIM50 612319
ICD10 via Orphanet29 G11.4, G23.0
MedGen35 C2676236
MeSH37 D015419

Summaries for Spastic Paraplegia 35, Autosomal Recessive

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UniProtKB/Swiss-Prot:68 Spastic paraplegia 35, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur.

MalaCards based summary: Spastic Paraplegia 35, Autosomal Recessive, also known as fatty acid hydroxylase-associated neurodegeneration, is related to spastic paraplegia 35 and lateral sclerosis, and has symptoms including ataxia, seizures and urinary urgency. An important gene associated with Spastic Paraplegia 35, Autosomal Recessive is FA2H (Fatty Acid 2-Hydroxylase). Affiliated tissues include brain and eye.

Genetics Home Reference:24 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.

OMIM:50 Autosomal recessive spastic paraplegia-35 is a complicated form of SPG characterized by childhood onset of gait... (612319) more...

GeneReviews summary for NBK56080

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 63
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 23
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 74, 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 64, Autosomal Recessive Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 9b, Autosomal Recessive
Spastic Paraplegia 45, Autosomal Recessive 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 3a, Autosomal Dominant
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 73, Autosomal Dominant Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 7
Spastic Paraplegia 8 Spastic Paraplegia 11
Spastic Paraplegia 1 Spastic Paraplegia 51
Spastic Paraplegia 9 Spastic Paraplegia 10
Spastic Paraplegia 17 Spastic Paraplegia 5a
Spastic Paraplegia 32 Spastic Paraplegia 6
Spastic Paraplegia 18 Spastic Paraplegia 15
Spastic Paraplegia 39 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 16 Spastic Paraplegia 19
Spastic Paraplegia 2 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 5b
Spastic Paraplegia 28 Spastic Paraplegia 30
Spastic Paraplegia 33 Spastic Paraplegia 35
Spastic Paraplegia 42 Spastic Paraplegia 43
Spastic Paraplegia 45 Spastic Paraplegia 46
Spastic Paraplegia 47 Spastic Paraplegia 48
Spastic Paraplegia 49 Spastic Paraplegia 50
Spastic Paraplegia 52 Spastic Paraplegia 53
Spastic Paraplegia 54 Spastic Paraplegia 55
Spastic Paraplegia 56 Spastic Paraplegia 57
Spastic Paraplegia 59 Spastic Paraplegia 61
Spastic Paraplegia 64 Spastic Paraplegia 66
Spastic Paraplegia 72 Spastic Paraplegia 75
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

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

idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 3511.3
2lateral sclerosis10.0
3joubert syndrome 209.5FA2H, FAAH

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 urinary urgency HP:0000012
2 urinary incontinence HP:0000020
3 strabismus HP:0000486
4 external ophthalmoplegia HP:0000544
5 nystagmus HP:0000639
6 optic atrophy HP:0000648
7 intellectual disability HP:0001249
8 seizures HP:0001250
9 spastic paraplegia HP:0001258
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 lower limb spasticity HP:0002061
17 hypoplasia of the corpus callosum HP:0002079
18 neurodegeneration HP:0002180
19 spastic paraparesis HP:0002313
20 difficulty walking HP:0002355
21 abnormality of the periventricular white matter HP:0002518
22 babinski sign HP:0003487
23 dysmyelinating leukodystrophy HP:0006978
24 ankle clonus HP:0011448

UMLS symptoms related to Spastic Paraplegia 35, Autosomal Recessive:


ataxia, seizures

Drugs & Therapeutics for Spastic Paraplegia 35, Autosomal Recessive

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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 Neurodegeneration23 FA2H
2 Dysmyelinating Leukodystrophy and Spastic Paraparesis with or Without Dystonia23

Anatomical Context for Spastic Paraplegia 35, Autosomal Recessive

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

34
Brain, Eye

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

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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:

68
id Symbol AA change Variation ID SNP ID
1FA2Hp.Asp35TyrVAR_054893rs121918217
2FA2Hp.Arg235CysVAR_064621rs387907039
3FA2Hp.Arg154CysVAR_065245rs387907040

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

5
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.517C> T (p.Pro173Ser)single nucleotide variantLikely pathogenicrs863224870GRCh37Chr 16, 74760219: 74760219
4FA2HNM_024306.4(FA2H): c.703C> T (p.Arg235Cys)single nucleotide variantPathogenicrs387907039GRCh37Chr 16, 74752969: 74752969
5FA2HNM_024306.4(FA2H): c.159_176del18 (p.Arg53_Ile58del)deletionPathogenicrs759947457GRCh37Chr 16, 74808478: 74808495
6FA2HNM_024306.4(FA2H): c.460C> T (p.Arg154Cys)single nucleotide variantPathogenicrs387907040GRCh37Chr 16, 74761188: 74761188
7FA2HNM_024306.4(FA2H): c.510_511delCA (p.Tyr170Terfs)deletionPathogenicrs587776891GRCh37Chr 16, 74760225: 74760226
8FA2HNM_024306.4(FA2H): c.707T> C (p.Phe236Ser)single nucleotide variantPathogenicrs387907172GRCh37Chr 16, 74752965: 74752965
9FA2HNG_017070.1: g.(39810_52446)_(66877_?)deldeletionPathogenicGRCh38Chr 16, 74712955: 74740022

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

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

idNameGO IDScoreTop Affiliating Genes
1organelle membraneGO:00310909.4FA2H, FAAH
2endoplasmic reticulum membraneGO:00057899.1FA2H, FAAH

Sources for Spastic Paraplegia 35, Autosomal Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet