SPG35
MCID: SPS153
MIFTS: 34

Spastic Paraplegia 35, Autosomal Recessive (SPG35) 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

Aliases & Descriptions for Spastic Paraplegia 35, Autosomal Recessive:

Name: Spastic Paraplegia 35, Autosomal Recessive 54 50 66 13
Fatty Acid Hydroxylase-Associated Neurodegeneration 12 23 50 24 25 56 66 69
Fahn 12 50 25 56 66
Spg35 12 50 56 66
Leukodystrophy, Dysmyelinating, and Spastic Paraparesis with or Without Dystonia 50 69
Autosomal Recessive Spastic Paraplegia Type 35 12 56
Hereditary Spastic Paraplegia 35 12 14
Leukodystrophy, Dysmyelinating and Spastic Paraparesis with or Without Dystonia 12
Dysmyelinating Leukodystrophy and Spastic Paraparesis with or Without Dystonia 24
Leukodystrophy Dysmyelinating and Spastic Paraparesis with or Without Dystonia 66
Dysmyelinating Leukodystrophy and Spastic Paraparesis 25
Autosomal Recessive Spastic Paraplegia 35 12
Spastic Paraplegia 35 25

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive spastic paraplegia type 35
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:

32
spastic paraplegia 35, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 54 612319
Disease Ontology 12 DOID:0110786
ICD10 33 G11.4
ICD10 via Orphanet 34 G11.4 G23.0
MedGen 40 C2676236
MeSH 42 D015419

Summaries for Spastic Paraplegia 35, Autosomal Recessive

UniProtKB/Swiss-Prot : 66 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 spastic paraplegia 5a, autosomal recessive, and has symptoms including seizures, dystonia and nystagmus. An important gene associated with Spastic Paraplegia 35, Autosomal Recessive is FA2H (Fatty Acid 2-Hydroxylase). Affiliated tissues include brain and eye.

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the FA2H gene on chromosome 16q23.1.

Genetics Home Reference : 25 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 : 54 Autosomal recessive spastic paraplegia-35 is a complicated form of SPG characterized by childhood onset of gait... (612319) more...

GeneReviews: NBK56080

Related Diseases for Spastic Paraplegia 35, Autosomal Recessive

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
Hereditary Spastic Paraplegia 3a Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 62 Hereditary Spastic Paraplegia 72
Hereditary Spastic Paraplegia 75 Hereditary Spastic Paraplegia 76
Hereditary Spastic Paraplegia 77 Spastic Paraplegia 4
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 24 Spastic Paraplegia 25
Spastic Paraplegia 26 Spastic Paraplegia 29
Spastic Paraplegia 3 Spastic Paraplegia 31
Spastic Paraplegia 32 Spastic Paraplegia 39
Spastic Paraplegia 51 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 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 62
Spastic Paraplegia 64 Spastic Paraplegia 66
Spastic Paraplegia 72 Spastic Paraplegia 75
Spastic Paraplegia 76 Spastic Paraplegia 44
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
Spastic Paraplegia 78, Autosomal Recessive

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

(show all 30)
id Related Disease Score Top Affiliating Genes
1 spastic paraplegia 35 11.1
2 spastic paraplegia 5a, autosomal recessive 10.8
3 seckel syndrome 7 10.1 AP5Z1 DDHD2
4 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency 10.1 SPG11 SPG21
5 cerebellofaciodental syndrome 10.1 SPG11 ZFYVE26
6 cataract 25 10.1 SPG11 SPG21
7 nonaka myopathy 10.0 CYP2U1 SPG21
8 spastic paraplegia 19 10.0 FA2H SPG11
9 alazami syndrome 10.0 CYP2U1 DDHD2
10 noonan syndrome 6 10.0 AP5Z1 ERLIN2
11 ichthyosis, cyclic, with epidermolytic hyperkeratosis 10.0 AP5Z1 SPG11
12 combined oxidative phosphorylation deficiency 1 10.0 AP5Z1 ERLIN2
13 leukodystrophy, hypomyelinating, 4 10.0 AP5Z1 ERLIN2
14 sitosterolemia 10.0 AP5Z1 SPG11
15 schaaf-yang syndrome 10.0 AP5Z1 ERLIN2
16 neurodegeneration with brain iron accumulation 3 9.9 AP5Z1 ERLIN2
17 phosphoribosylpyrophosphate synthetase superactivity 9.9 AP5Z1 ERLIN2
18 cardiofaciocutaneous syndrome 9.9 CYP2U1 DDHD2 FA2H
19 dystonia 6, torsion 9.9 AP5Z1 CYP2U1 DDHD2
20 spastic paraplegia 51, autosomal recessive 9.9 SPG11 SPG21
21 laurence-moon syndrome 9.9 AP5Z1 ERLIN2 ZFYVE26
22 lateral sclerosis 9.9
23 lymphedema, hereditary, ic 9.9 AP5Z1 ERLIN2 SPG21
24 ataxia, sensory, 1, autosomal dominant 9.9 AP5Z1 ERLIN2 SPG21
25 neuropathy, hereditary sensory, type iic 9.9 AP5Z1 ERLIN2 SPG21
26 age-related hearing impairment 1 9.8 AP5Z1 ERLIN2 SPG11
27 pediatric leptomeningeal melanoma 9.4 CYP2U1 DDHD2 FA2H SPG11 SPG21 ZFYVE26
28 immunodeficiency 11 9.3 AP5Z1 DDHD2 ERLIN2 SPG11 SPG21 ZFYVE26
29 methylmalonate semialdehyde dehydrogenase deficiency 9.2 AP5Z1 CYP2U1 DDHD2 FA2H SPG11 SPG21
30 joubert syndrome 20 8.9 AP5Z1 CYP2U1 DDHD2 ERLIN2 FA2H SPG11

Graphical network of the top 20 diseases related to Spastic Paraplegia 35, Autosomal Recessive:



Diseases related to Spastic Paraplegia 35, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 35, Autosomal Recessive

Symptoms by clinical synopsis from OMIM:

612319

Clinical features from OMIM:

612319

Human phenotypes related to Spastic Paraplegia 35, Autosomal Recessive:

32 (show all 24)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 dystonia 32 HP:0001332
3 nystagmus 32 HP:0000639
4 intellectual disability 32 HP:0001249
5 dysarthria 32 HP:0001260
6 optic atrophy 32 HP:0000648
7 strabismus 32 HP:0000486
8 babinski sign 32 HP:0003487
9 dysmetria 32 HP:0001310
10 neurodegeneration 32 HP:0002180
11 difficulty walking 32 HP:0002355
12 mental deterioration 32 HP:0001268
13 spastic paraplegia 32 HP:0001258
14 cerebellar atrophy 32 HP:0001272
15 hypoplasia of the corpus callosum 32 HP:0002079
16 external ophthalmoplegia 32 HP:0000544
17 spastic tetraparesis 32 HP:0001285
18 abnormality of the periventricular white matter 32 HP:0002518
19 spastic paraparesis 32 HP:0002313
20 lower limb spasticity 32 HP:0002061
21 urinary incontinence 32 HP:0000020
22 urinary urgency 32 HP:0000012
23 ankle clonus 32 HP:0011448
24 dysmyelinating leukodystrophy 32 HP:0006978

UMLS symptoms related to Spastic Paraplegia 35, Autosomal Recessive:


ataxia, seizures

Drugs & Therapeutics for Spastic Paraplegia 35, Autosomal Recessive

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spastic Paraplegia 35, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 35, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 35, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Fatty Acid Hydroxylase-Associated Neurodegeneration 24 FA2H
2 Dysmyelinating Leukodystrophy and Spastic Paraparesis with or Without Dystonia 24

Anatomical Context for Spastic Paraplegia 35, Autosomal Recessive

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

39
Brain, Eye

Publications for Spastic Paraplegia 35, Autosomal Recessive

Variations for Spastic Paraplegia 35, Autosomal Recessive

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

66
id Symbol AA change Variation ID SNP ID
1 FA2H p.Asp35Tyr VAR_054893 rs121918217
2 FA2H p.Arg235Cys VAR_064621 rs387907039
3 FA2H p.Arg154Cys VAR_065245 rs387907040

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FA2H FA2H, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
2 FA2H NM_024306.4(FA2H): c.103G> T (p.Asp35Tyr) single nucleotide variant Pathogenic rs121918217 GRCh37 Chromosome 16, 74808551: 74808551
3 FA2H NM_024306.4(FA2H): c.703C> T (p.Arg235Cys) single nucleotide variant Pathogenic rs387907039 GRCh37 Chromosome 16, 74752969: 74752969
4 FA2H NM_024306.4(FA2H): c.159_176del18 (p.Arg53_Ile58del) deletion Pathogenic rs759947457 GRCh37 Chromosome 16, 74808478: 74808495
5 FA2H NM_024306.4(FA2H): c.460C> T (p.Arg154Cys) single nucleotide variant Pathogenic rs387907040 GRCh37 Chromosome 16, 74761188: 74761188
6 FA2H NM_024306.4(FA2H): c.510_511delCA (p.Tyr170Terfs) deletion Pathogenic rs587776891 GRCh38 Chromosome 16, 74726327: 74726328
7 FA2H NM_024306.4(FA2H): c.707T> C (p.Phe236Ser) single nucleotide variant Pathogenic rs387907172 GRCh37 Chromosome 16, 74752965: 74752965
8 FA2H NG_017070.1: g.(39810_52446)_(66877_?)del deletion Pathogenic GRCh38 Chromosome 16, 74712955: 74740022
9 FA2H NM_024306.4(FA2H): c.517C> T (p.Pro173Ser) single nucleotide variant Likely pathogenic rs863224870 GRCh38 Chromosome 16, 74726321: 74726321

Expression for Spastic Paraplegia 35, Autosomal Recessive

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

Pathways for Spastic Paraplegia 35, Autosomal Recessive

GO Terms for Spastic Paraplegia 35, Autosomal Recessive

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

id Name GO ID Score Top Affiliating Genes
1 organelle membrane GO:0031090 8.62 CYP2U1 FA2H

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

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.13 DDHD2 ERLIN2 FA2H
2 double-strand break repair via homologous recombination GO:0000724 8.62 AP5Z1 ZFYVE26

Sources for Spastic Paraplegia 35, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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