MCID: SPS153
MIFTS: 40

Spastic Paraplegia 35, Autosomal Recessive

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

MalaCards integrated aliases for Spastic Paraplegia 35, Autosomal Recessive:

Name: Spastic Paraplegia 35, Autosomal Recessive 57 53 75 13
Fatty Acid Hydroxylase-Associated Neurodegeneration 57 12 24 53 25 59 75 73
Fahn 57 12 53 25 59 75
Spg35 57 12 53 59 75
Leukodystrophy, Dysmyelinating, and Spastic Paraparesis with or Without Dystonia 57 53 73
Spastic Paraplegia 35 25 29 6
Autosomal Recessive Spastic Paraplegia Type 35 12 59
Hereditary Spastic Paraplegia 35 12 15
Leukodystrophy, Dysmyelinating and Spastic Paraparesis with or Without Dystonia 12
Leukodystrophy Dysmyelinating and Spastic Paraparesis with or Without Dystonia 75
Fatty Acid Hydroxylase-Associated Neurodegeneration; Fahn 57
Dysmyelinating Leukodystrophy and Spastic Paraparesis 25
Paraplegia, Spastic, Autosomal Recessive, Type 35 40
Autosomal Recessive Spastic Paraplegia 35 12

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset between 3 and 11 years of age
most patients become wheelchair-bound in adolescence or as young adults


HPO:

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


Classifications:



Summaries for Spastic Paraplegia 35, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 paraplegia and hereditary spastic paraplegia, and has symptoms including ataxia, seizures and urgency of micturition. An important gene associated with Spastic Paraplegia 35, Autosomal Recessive is FA2H (Fatty Acid 2-Hydroxylase). Affiliated tissues include brain, globus pallidus and eye, and related phenotypes are spastic paraplegia and lower limb spasticity

OMIM : 57 Autosomal recessive spastic paraplegia-35 is a complicated form of SPG characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur (summary by Dick et al., 2010). In addition, some patients with mutations in the FA2H gene have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA), thus expanding the phenotype. Kruer et al. (2010) referred to this phenotypic spectrum of disorders as fatty acid hydrolase-associated neurodegeneration (FAHN). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (612319)

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 329308Disease definitionFatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.Visit the Orphanet disease page for more resources.

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.

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

GeneReviews: NBK56080

Related Diseases for Spastic Paraplegia 35, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
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
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:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 paraplegia 26.2 AP5Z1 DDHD2 ERLIN2 FA2H SPG11 SPG21
2 hereditary spastic paraplegia 25.0 AP5Z1 CYP2U1 DDHD2 ERLIN2 FA2H SPG11
3 mitochondrial membrane protein-associated neurodegeneration 11.3
4 spastic paraplegia 28, autosomal recessive 10.2 AP5Z1 DDHD2
5 amyotrophic lateral sclerosis type 5 10.2 SPG11 SPG21
6 mast syndrome 10.2 SPG11 SPG21
7 spasticity 10.2
8 spastic paraplegia 32, autosomal recessive 10.1 SPG11 SPG21
9 essential tremor 10.1
10 tremor 10.1
11 spastic paraplegia 49, autosomal recessive 10.0 SPG11 ZFYVE26
12 spastic paraplegia 10, autosomal dominant 10.0 AP5Z1 SPG11
13 spastic paraplegia 46, autosomal recessive 10.0 CYP2U1 SPG21
14 masa syndrome 10.0 AP5Z1 SPG11
15 spastic paraplegia 47, autosomal recessive 9.9 AP5Z1 ERLIN2
16 spastic paraplegia 56, autosomal recessive 9.9 CYP2U1 DDHD2
17 spastic paraplegia 42, autosomal dominant 9.9 AP5Z1 ERLIN2
18 amyotrophic lateral sclerosis 1 9.9
19 parkinson disease, late-onset 9.9
20 lateral sclerosis 9.9
21 movement disease 9.9
22 spastic paraplegia 13, autosomal dominant 9.8 AP5Z1 ERLIN2
23 charcot-marie-tooth disease, axonal, type 2t 9.8 CYP2U1 SPG21
24 spastic paraplegia 2, x-linked 9.8 AP5Z1 ERLIN2
25 spastic paraparesis 9.8 FA2H SPG11
26 spastic paraplegia 6, autosomal dominant 9.8 AP5Z1 ERLIN2
27 spastic paraplegia 12, autosomal dominant 9.8 AP5Z1 ERLIN2
28 spastic paraplegia 54, autosomal recessive 9.6 AP5Z1 CYP2U1 DDHD2
29 spastic paraplegia 39, autosomal recessive 9.5 AP5Z1 ERLIN2 ZFYVE26
30 spastic paraplegia 18, autosomal recessive 9.4 AP5Z1 ERLIN2 SPG21
31 spastic paraplegia 11, autosomal recessive 9.4 SPG11 SPG21
32 spastic paraplegia 44, autosomal recessive 9.4 AP5Z1 ERLIN2 SPG21
33 spastic paraplegia 30, autosomal recessive 9.4 AP5Z1 ERLIN2 SPG21
34 spastic paraplegia 4, autosomal dominant 9.3 ERLIN2 SPG11
35 spastic paraplegia 8, autosomal dominant 9.3 AP5Z1 ERLIN2 SPG11
36 charcot-marie-tooth disease, axonal, type 2e 9.0 CYP2U1 SPG11 SPG21 ZFYVE26
37 spastic paraplegia 48, autosomal recessive 7.7 AP5Z1 DDHD2 ERLIN2 SPG11 SPG21 ZFYVE26
38 spastic paraplegia 15, autosomal recessive 7.5 AP5Z1 CYP2U1 DDHD2 FA2H SPG11 SPG21

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 via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
external ophthalmoplegia (less common)

Genitourinary Bladder:
urinary urgency
incontinence (variable)

Neurologic Central Nervous System:
seizures
ataxia
dysarthria
hyperreflexia
dysmetria
more

Clinical features from OMIM:

612319

Human phenotypes related to Spastic Paraplegia 35, Autosomal Recessive:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
2 lower limb spasticity 59 32 Very frequent (99-80%) HP:0002061
3 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
4 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
5 foot dorsiflexor weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009027
6 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
7 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
8 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
9 mental deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0001268
10 cerebellar atrophy 59 32 Frequent (79-30%) HP:0001272
11 spastic tetraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0001285
12 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
13 dysdiadochokinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002075
14 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
15 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
16 lower limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0006895
17 generalized dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0007325
18 atrophy/degeneration affecting the brainstem 59 32 frequent (33%) Frequent (79-30%) HP:0007366
19 corpus callosum atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007371
20 peripheral demyelination 59 32 occasional (7.5%) Occasional (29-5%) HP:0011096
21 ankle clonus 59 32 occasional (7.5%) Frequent (79-30%) HP:0011448
22 urinary incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000020
23 mask-like facies 59 32 occasional (7.5%) Occasional (29-5%) HP:0000298
24 neck muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000467
25 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
26 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
27 bowel incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0002607
28 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
29 positional foot deformity 59 32 occasional (7.5%) Occasional (29-5%) HP:0005656
30 pontocerebellar atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0006879
31 enuresis nocturna 59 32 occasional (7.5%) Occasional (29-5%) HP:0010677
32 iron accumulation in globus pallidus 59 32 occasional (7.5%) Occasional (29-5%) HP:0012677
33 pollakisuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0100515
34 ophthalmoplegia 59 32 very rare (1%) Very rare (<4-1%) HP:0000602
35 optic atrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0000648
36 hyperreflexia 59 Very frequent (99-80%)
37 cognitive impairment 59 Frequent (79-30%)
38 urinary urgency 32 HP:0000012
39 strabismus 32 HP:0000486
40 external ophthalmoplegia 32 occasional (7.5%) HP:0000544
41 nystagmus 32 HP:0000639
42 dystonia 32 HP:0001332
43 neurodegeneration 32 HP:0002180
44 spastic paraparesis 32 HP:0002313
45 abnormality of the periventricular white matter 32 HP:0002518
46 dysmyelinating leukodystrophy 32 HP:0006978

UMLS symptoms related to Spastic Paraplegia 35, Autosomal Recessive:


ataxia, seizures, urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 35, Autosomal Recessive

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 35 29 FA2H

Anatomical Context for Spastic Paraplegia 35, Autosomal Recessive

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

41
Brain, Globus Pallidus, Eye

Publications for Spastic Paraplegia 35, Autosomal Recessive

Articles related to Spastic Paraplegia 35, Autosomal Recessive:

# Title Authors Year
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 Spastic Paraplegia 35, Autosomal Recessive

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

75
# 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
(show top 50) (show all 105)
# 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.103G> T (p.Asp35Tyr) single nucleotide variant Pathogenic rs121918217 GRCh38 Chromosome 16, 74774653: 74774653
4 FA2H NM_024306.4(FA2H): c.703C> T (p.Arg235Cys) single nucleotide variant Pathogenic rs387907039 GRCh37 Chromosome 16, 74752969: 74752969
5 FA2H NM_024306.4(FA2H): c.703C> T (p.Arg235Cys) single nucleotide variant Pathogenic rs387907039 GRCh38 Chromosome 16, 74719071: 74719071
6 FA2H NM_024306.4(FA2H): c.159_176del18 (p.Arg53_Ile58del) deletion Pathogenic rs759947457 GRCh37 Chromosome 16, 74808478: 74808495
7 FA2H NM_024306.4(FA2H): c.159_176del18 (p.Arg53_Ile58del) deletion Pathogenic rs759947457 GRCh38 Chromosome 16, 74774580: 74774597
8 FA2H NM_024306.4(FA2H): c.460C> T (p.Arg154Cys) single nucleotide variant Pathogenic rs387907040 GRCh37 Chromosome 16, 74761188: 74761188
9 FA2H NM_024306.4(FA2H): c.460C> T (p.Arg154Cys) single nucleotide variant Pathogenic rs387907040 GRCh38 Chromosome 16, 74727290: 74727290
10 FA2H NM_024306.4(FA2H): c.510_511delCA (p.Tyr170Terfs) deletion Pathogenic rs587776891 GRCh38 Chromosome 16, 74726327: 74726328
11 FA2H NM_024306.4(FA2H): c.510_511delCA (p.Tyr170Terfs) deletion Pathogenic rs587776891 GRCh37 Chromosome 16, 74760225: 74760226
12 FA2H NM_024306.4(FA2H): c.707T> C (p.Phe236Ser) single nucleotide variant Pathogenic rs387907172 GRCh37 Chromosome 16, 74752965: 74752965
13 FA2H NM_024306.4(FA2H): c.707T> C (p.Phe236Ser) single nucleotide variant Pathogenic rs387907172 GRCh38 Chromosome 16, 74719067: 74719067
14 FA2H NG_017070.1: g.(39810_52446)_(66877_?)del deletion Pathogenic GRCh38 Chromosome 16, 74712955: 74740022
15 FA2H NG_017070.1: g.(39810_52446)_(66877_?)del deletion Pathogenic GRCh37 Chromosome 16, 74746853: 74773920
16 FA2H NM_024306.4(FA2H): c.150_159dupGCGGGCCAGG (p.Asp57Glyfs) duplication no interpretation for the single variant rs794729214 GRCh38 Chromosome 16, 74774597: 74774606
17 FA2H NM_024306.4(FA2H): c.150_159dupGCGGGCCAGG (p.Asp57Glyfs) duplication no interpretation for the single variant rs794729214 GRCh37 Chromosome 16, 74808495: 74808504
18 FA2H NM_024306.4(FA2H): c.117C> A (p.Phe39Leu) single nucleotide variant no interpretation for the single variant rs794729215 GRCh38 Chromosome 16, 74774639: 74774639
19 FA2H NM_024306.4(FA2H): c.117C> A (p.Phe39Leu) single nucleotide variant no interpretation for the single variant rs794729215 GRCh37 Chromosome 16, 74808537: 74808537
20 FA2H NM_024306.4(FA2H): c.517C> T (p.Pro173Ser) single nucleotide variant Likely pathogenic rs863224870 GRCh37 Chromosome 16, 74760219: 74760219
21 FA2H NM_024306.4(FA2H): c.517C> T (p.Pro173Ser) single nucleotide variant Likely pathogenic rs863224870 GRCh38 Chromosome 16, 74726321: 74726321
22 FA2H NM_024306.4(FA2H): c.*772C> A single nucleotide variant Uncertain significance rs886052286 GRCh38 Chromosome 16, 74713418: 74713418
23 FA2H NM_024306.4(FA2H): c.*772C> A single nucleotide variant Uncertain significance rs886052286 GRCh37 Chromosome 16, 74747316: 74747316
24 FA2H NM_024306.4(FA2H): c.*653G> A single nucleotide variant Uncertain significance rs553741220 GRCh38 Chromosome 16, 74713537: 74713537
25 FA2H NM_024306.4(FA2H): c.*653G> A single nucleotide variant Uncertain significance rs553741220 GRCh37 Chromosome 16, 74747435: 74747435
26 FA2H NM_024306.4(FA2H): c.*447C> T single nucleotide variant Uncertain significance rs574506095 GRCh38 Chromosome 16, 74713743: 74713743
27 FA2H NM_024306.4(FA2H): c.*447C> T single nucleotide variant Uncertain significance rs574506095 GRCh37 Chromosome 16, 74747641: 74747641
28 FA2H NM_024306.4(FA2H): c.*1131A> C single nucleotide variant Likely benign rs7189731 GRCh38 Chromosome 16, 74713059: 74713059
29 FA2H NM_024306.4(FA2H): c.*1131A> C single nucleotide variant Likely benign rs7189731 GRCh37 Chromosome 16, 74746957: 74746957
30 FA2H NM_024306.4(FA2H): c.*1129G> A single nucleotide variant Likely benign rs7184172 GRCh38 Chromosome 16, 74713061: 74713061
31 FA2H NM_024306.4(FA2H): c.*1129G> A single nucleotide variant Likely benign rs7184172 GRCh37 Chromosome 16, 74746959: 74746959
32 FA2H NM_024306.4(FA2H): c.*1064C> G single nucleotide variant Benign rs1046371 GRCh38 Chromosome 16, 74713126: 74713126
33 FA2H NM_024306.4(FA2H): c.*1064C> G single nucleotide variant Benign rs1046371 GRCh37 Chromosome 16, 74747024: 74747024
34 FA2H NM_024306.4(FA2H): c.*391C> T single nucleotide variant Uncertain significance rs563533561 GRCh38 Chromosome 16, 74713799: 74713799
35 FA2H NM_024306.4(FA2H): c.*391C> T single nucleotide variant Uncertain significance rs563533561 GRCh37 Chromosome 16, 74747697: 74747697
36 FA2H NM_024306.4(FA2H): c.*302G> A single nucleotide variant Uncertain significance rs532087618 GRCh38 Chromosome 16, 74713888: 74713888
37 FA2H NM_024306.4(FA2H): c.*302G> A single nucleotide variant Uncertain significance rs532087618 GRCh37 Chromosome 16, 74747786: 74747786
38 FA2H NM_024306.4(FA2H): c.*281C> A single nucleotide variant Likely benign rs189104271 GRCh38 Chromosome 16, 74713909: 74713909
39 FA2H NM_024306.4(FA2H): c.*281C> A single nucleotide variant Likely benign rs189104271 GRCh37 Chromosome 16, 74747807: 74747807
40 FA2H NM_024306.4(FA2H): c.*62G> A single nucleotide variant Uncertain significance rs528642838 GRCh37 Chromosome 16, 74748026: 74748026
41 FA2H NM_024306.4(FA2H): c.*62G> A single nucleotide variant Uncertain significance rs528642838 GRCh38 Chromosome 16, 74714128: 74714128
42 FA2H NM_024306.4(FA2H): c.1113G> C (p.Thr371=) single nucleotide variant Conflicting interpretations of pathogenicity rs140017632 GRCh37 Chromosome 16, 74748094: 74748094
43 FA2H NM_024306.4(FA2H): c.1113G> C (p.Thr371=) single nucleotide variant Conflicting interpretations of pathogenicity rs140017632 GRCh38 Chromosome 16, 74714196: 74714196
44 FA2H NM_024306.4(FA2H): c.429G> A (p.Glu143=) single nucleotide variant Uncertain significance rs886052290 GRCh38 Chromosome 16, 74727321: 74727321
45 FA2H NM_024306.4(FA2H): c.429G> A (p.Glu143=) single nucleotide variant Uncertain significance rs886052290 GRCh37 Chromosome 16, 74761219: 74761219
46 FA2H NM_024306.4(FA2H): c.385C> T (p.Pro129Ser) single nucleotide variant Uncertain significance rs886052291 GRCh38 Chromosome 16, 74727365: 74727365
47 FA2H NM_024306.4(FA2H): c.385C> T (p.Pro129Ser) single nucleotide variant Uncertain significance rs886052291 GRCh37 Chromosome 16, 74761263: 74761263
48 FA2H NM_024306.4(FA2H): c.-74C> T single nucleotide variant Uncertain significance rs886052292 GRCh38 Chromosome 16, 74774829: 74774829
49 FA2H NM_024306.4(FA2H): c.-74C> T single nucleotide variant Uncertain significance rs886052292 GRCh37 Chromosome 16, 74808727: 74808727
50 FA2H NM_024306.4(FA2H): c.*1188A> G single nucleotide variant Uncertain significance rs754403053 GRCh38 Chromosome 16, 74713002: 74713002

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:

# 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:

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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