SPG35
MCID: SPS153
MIFTS: 42

Spastic Paraplegia 35, Autosomal Recessive (SPG35)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin 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 spastic paraplegia 11, autosomal recessive and paraplegia, and has symptoms including seizures, ataxia 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 skin, and related phenotypes are intellectual disability and seizures

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.

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.

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)

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
Spastic Paraplegia Type 49 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 Dominant Spastic Paraplegia Type 9b
Autosomal Dominant Spastic Paraplegia Type 9

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 11, autosomal recessive 29.9 SPG11 SPG21
2 paraplegia 29.3 AP5Z1 DDHD2 ERLIN2 FA2H SPG11 SPG21
3 spastic paraplegia 48, autosomal recessive 29.0 AP5Z1 DDHD2 ERLIN2 SPG11 SPG21 ZFYVE26
4 hereditary spastic paraplegia 28.8 AP5Z1 CYP2U1 DDHD2 ERLIN2 FA2H SPG11
5 mitochondrial membrane protein-associated neurodegeneration 11.5
6 essential tremor 10.3
7 tremor 10.3
8 movement disease 10.2
9 spastic paraplegia 44, autosomal recessive 10.1 AP5Z1 SPG21
10 spastic paraplegia 47, autosomal recessive 10.1 AP5Z1 ERLIN2
11 spastic paraplegia 42, autosomal dominant 10.1 AP5Z1 ERLIN2
12 spastic paraplegia 13, autosomal dominant 10.1 AP5Z1 ERLIN2
13 spastic paraplegia 32, autosomal recessive 10.0 SPG11 SPG21
14 spastic paraplegia 31, autosomal dominant 10.0 AP5Z1 SPG11
15 spastic paraplegia 6, autosomal dominant 10.0 AP5Z1 ERLIN2
16 mast syndrome 10.0 SPG11 SPG21
17 spastic paraplegia 12, autosomal dominant 10.0 AP5Z1 ERLIN2
18 amyotrophic lateral sclerosis type 5 10.0 SPG11 SPG21
19 spastic paraplegia 10, autosomal dominant 10.0 AP5Z1 SPG11
20 amyotrophic lateral sclerosis 1 10.0
21 parkinson disease, late-onset 10.0
22 cerebral palsy 10.0
23 lateral sclerosis 10.0
24 dystonia 10.0
25 spastic paraplegia 49, autosomal recessive 10.0 SPG11 ZFYVE26
26 masa syndrome 10.0 AP5Z1 SPG11
27 charcot-marie-tooth disease, axonal, type 2t 10.0 CYP2U1 SPG21
28 spastic paraplegia 28, autosomal recessive 10.0 AP5Z1 DDHD2
29 spastic paraplegia 39, autosomal recessive 9.9 AP5Z1 ERLIN2 ZFYVE26
30 spastic paraplegia 18, autosomal recessive 9.9 AP5Z1 ERLIN2 SPG21
31 spastic paraplegia 30, autosomal recessive 9.9 AP5Z1 ERLIN2 SPG21
32 spastic paraplegia 4, autosomal dominant 9.9 ERLIN2 SPG11
33 spastic paraplegia 8, autosomal dominant 9.9 AP5Z1 ERLIN2 SPG11
34 spastic paraparesis 9.9 FA2H SPG11
35 spastic paraplegia 46, autosomal recessive 9.8 CYP2U1 SPG11 SPG21
36 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.7 CYP2U1 DDHD2 FA2H
37 spastic paraplegia 54, autosomal recessive 9.7 AP5Z1 CYP2U1 DDHD2
38 spastic paraplegia 56, autosomal recessive 9.7 AP5Z1 CYP2U1 DDHD2
39 charcot-marie-tooth disease, axonal, type 2e 9.6 CYP2U1 FA2H SPG11 SPG21 ZFYVE26
40 spastic paraplegia 15, autosomal recessive 9.1 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 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
4 bowel incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0002607
5 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
6 optic atrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0000648
7 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
8 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
9 mask-like facies 59 32 occasional (7.5%) Occasional (29-5%) HP:0000298
10 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
11 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
12 mental deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0001268
13 dysdiadochokinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002075
14 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
15 cerebellar atrophy 59 32 Frequent (79-30%) HP:0001272
16 pontocerebellar atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0006879
17 ophthalmoplegia 59 32 very rare (1%) Very rare (<4-1%) HP:0000602
18 foot dorsiflexor weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009027
19 neck muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000467
20 lower limb spasticity 59 32 Very frequent (99-80%) HP:0002061
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 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
24 spastic tetraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0001285
25 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
26 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
27 lower limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0006895
28 generalized dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0007325
29 atrophy/degeneration affecting the brainstem 59 32 frequent (33%) Frequent (79-30%) HP:0007366
30 corpus callosum atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007371
31 peripheral demyelination 59 32 occasional (7.5%) Occasional (29-5%) HP:0011096
32 positional foot deformity 59 32 occasional (7.5%) Occasional (29-5%) HP:0005656
33 enuresis nocturna 59 32 occasional (7.5%) Occasional (29-5%) HP:0010677
34 iron accumulation in globus pallidus 59 32 occasional (7.5%) Occasional (29-5%) HP:0012677
35 pollakisuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0100515
36 nystagmus 32 HP:0000639
37 hyperreflexia 59 Very frequent (99-80%)
38 cognitive impairment 59 Frequent (79-30%)
39 strabismus 32 HP:0000486
40 dystonia 32 HP:0001332
41 neurodegeneration 32 HP:0002180
42 urinary urgency 32 HP:0000012
43 external ophthalmoplegia 32 occasional (7.5%) HP:0000544
44 abnormality of the periventricular white matter 32 HP:0002518
45 spastic paraparesis 32 HP:0002313
46 dysmyelinating leukodystrophy 32 HP:0006978

UMLS symptoms related to Spastic Paraplegia 35, Autosomal Recessive:


seizures, ataxia, 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, Skin, Bone, 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 121)
# 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.159_176del18 (p.Arg53_Ile58del) deletion Pathogenic rs759947457 GRCh37 Chromosome 16, 74808478: 74808495
5 FA2H NM_024306.4(FA2H): c.703C> T (p.Arg235Cys) single nucleotide variant Pathogenic rs387907039 GRCh37 Chromosome 16, 74752969: 74752969
6 FA2H NM_024306.4(FA2H): c.703C> T (p.Arg235Cys) single nucleotide variant Pathogenic rs387907039 GRCh38 Chromosome 16, 74719071: 74719071
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.1039+8T> C single nucleotide variant Benign rs6564160 GRCh37 Chromosome 16, 74750237: 74750237
17 FA2H NM_024306.4(FA2H): c.1039+8T> C single nucleotide variant Benign rs6564160 GRCh38 Chromosome 16, 74716339: 74716339
18 FA2H NM_024306.4(FA2H): c.229C> T (p.Leu77=) single nucleotide variant Benign rs929881 GRCh37 Chromosome 16, 74808425: 74808425
19 FA2H NM_024306.4(FA2H): c.229C> T (p.Leu77=) single nucleotide variant Benign rs929881 GRCh38 Chromosome 16, 74774527: 74774527
20 FA2H NM_024306.4(FA2H): c.289C> G (p.Pro97Ala) single nucleotide variant Benign/Likely benign rs35874850 GRCh37 Chromosome 16, 74773995: 74773995
21 FA2H NM_024306.4(FA2H): c.289C> G (p.Pro97Ala) single nucleotide variant Benign/Likely benign rs35874850 GRCh38 Chromosome 16, 74740097: 74740097
22 FA2H NM_024306.4(FA2H): c.847G> A (p.Val283Ile) single nucleotide variant Uncertain significance rs138244546 GRCh37 Chromosome 16, 74750437: 74750437
23 FA2H NM_024306.4(FA2H): c.847G> A (p.Val283Ile) single nucleotide variant Uncertain significance rs138244546 GRCh38 Chromosome 16, 74716539: 74716539
24 FA2H NM_024306.4(FA2H): c.879C> T (p.Pro293=) single nucleotide variant Benign rs2301865 GRCh37 Chromosome 16, 74750405: 74750405
25 FA2H NM_024306.4(FA2H): c.879C> T (p.Pro293=) single nucleotide variant Benign rs2301865 GRCh38 Chromosome 16, 74716507: 74716507
26 FA2H NM_024306.4(FA2H): c.888A> G (p.Val296=) single nucleotide variant Benign/Likely benign rs11554621 GRCh37 Chromosome 16, 74750396: 74750396
27 FA2H NM_024306.4(FA2H): c.888A> G (p.Val296=) single nucleotide variant Benign/Likely benign rs11554621 GRCh38 Chromosome 16, 74716498: 74716498
28 FA2H NM_024306.4(FA2H): c.933T> C (p.Tyr311=) single nucleotide variant Benign/Likely benign rs11554620 GRCh37 Chromosome 16, 74750351: 74750351
29 FA2H NM_024306.4(FA2H): c.933T> C (p.Tyr311=) single nucleotide variant Benign/Likely benign rs11554620 GRCh38 Chromosome 16, 74716453: 74716453
30 FA2H NM_024306.4(FA2H): c.517C> T (p.Pro173Ser) single nucleotide variant Likely pathogenic rs863224870 GRCh37 Chromosome 16, 74760219: 74760219
31 FA2H NM_024306.4(FA2H): c.517C> T (p.Pro173Ser) single nucleotide variant Likely pathogenic rs863224870 GRCh38 Chromosome 16, 74726321: 74726321
32 FA2H NM_024306.4(FA2H): c.*772C> A single nucleotide variant Uncertain significance rs886052286 GRCh38 Chromosome 16, 74713418: 74713418
33 FA2H NM_024306.4(FA2H): c.*772C> A single nucleotide variant Uncertain significance rs886052286 GRCh37 Chromosome 16, 74747316: 74747316
34 FA2H NM_024306.4(FA2H): c.*653G> A single nucleotide variant Uncertain significance rs553741220 GRCh38 Chromosome 16, 74713537: 74713537
35 FA2H NM_024306.4(FA2H): c.*653G> A single nucleotide variant Uncertain significance rs553741220 GRCh37 Chromosome 16, 74747435: 74747435
36 FA2H NM_024306.4(FA2H): c.*1131A> C single nucleotide variant Likely benign rs7189731 GRCh38 Chromosome 16, 74713059: 74713059
37 FA2H NM_024306.4(FA2H): c.*1131A> C single nucleotide variant Likely benign rs7189731 GRCh37 Chromosome 16, 74746957: 74746957
38 FA2H NM_024306.4(FA2H): c.*1129G> A single nucleotide variant Likely benign rs7184172 GRCh38 Chromosome 16, 74713061: 74713061
39 FA2H NM_024306.4(FA2H): c.*1129G> A single nucleotide variant Likely benign rs7184172 GRCh37 Chromosome 16, 74746959: 74746959
40 FA2H NM_024306.4(FA2H): c.*1064C> G single nucleotide variant Benign rs1046371 GRCh38 Chromosome 16, 74713126: 74713126
41 FA2H NM_024306.4(FA2H): c.*1064C> G single nucleotide variant Benign rs1046371 GRCh37 Chromosome 16, 74747024: 74747024
42 FA2H NM_024306.4(FA2H): c.*447C> T single nucleotide variant Uncertain significance rs574506095 GRCh38 Chromosome 16, 74713743: 74713743
43 FA2H NM_024306.4(FA2H): c.*447C> T single nucleotide variant Uncertain significance rs574506095 GRCh37 Chromosome 16, 74747641: 74747641
44 FA2H NM_024306.4(FA2H): c.*391C> T single nucleotide variant Uncertain significance rs563533561 GRCh38 Chromosome 16, 74713799: 74713799
45 FA2H NM_024306.4(FA2H): c.*391C> T single nucleotide variant Uncertain significance rs563533561 GRCh37 Chromosome 16, 74747697: 74747697
46 FA2H NM_024306.4(FA2H): c.*302G> A single nucleotide variant Uncertain significance rs532087618 GRCh38 Chromosome 16, 74713888: 74713888
47 FA2H NM_024306.4(FA2H): c.*302G> A single nucleotide variant Uncertain significance rs532087618 GRCh37 Chromosome 16, 74747786: 74747786
48 FA2H NM_024306.4(FA2H): c.*281C> A single nucleotide variant Likely benign rs189104271 GRCh38 Chromosome 16, 74713909: 74713909
49 FA2H NM_024306.4(FA2H): c.*281C> A single nucleotide variant Likely benign rs189104271 GRCh37 Chromosome 16, 74747807: 74747807
50 FA2H NM_024306.4(FA2H): c.*62G> A single nucleotide variant Uncertain significance rs528642838 GRCh37 Chromosome 16, 74748026: 74748026

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
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30 HGMD
31 HMDB
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62 PubMed
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