MCID: SPS153
MIFTS: 31

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

About this section

Aliases & Descriptions for Spastic Paraplegia 35, Autosomal Recessive:

Name: Spastic Paraplegia 35, Autosomal Recessive 49 11 45 67
Fatty Acid Hydroxylase-Associated Neurodegeneration 21 45 22 23 51 65 67
Fahn 45 23 51 67
Spg35 45 51 67
Leukodystrophy, Dysmyelinating, and Spastic Paraparesis with or Without Dystonia 45 22
 
Leukodystrophy Dysmyelinating and Spastic Paraparesis with or Without Dystonia 67
Dysmyelinating Leukodystrophy and Spastic Paraparesis 23
Autosomal Recessive Spastic Paraplegia Type 35 51
Spastic Paraplegia 35 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
spg35:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM49 612319
Orphanet51 171629, 329308
ICD10 via Orphanet28 G11.4, G23.0
MedGen34 C2676236
MeSH36 D015419

Summaries for Spastic Paraplegia 35, Autosomal Recessive

About this section
UniProtKB/Swiss-Prot:67 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 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), and among its related pathways are Circadian entrainment and Glucose / Energy Metabolism. Affiliated tissues include brain, eye and bone.

Genetics Home Reference:23 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:49 Autosomal recessive spastic paraplegia-35 is a complicated form of SPG characterized by childhood onset of gait... (612319) more...

GeneReviews summary for fahn

Related Diseases for Spastic Paraplegia 35, Autosomal Recessive

About this section

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 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 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 47
Spastic Paraplegia 48 Spastic Paraplegia 50
Spastic Paraplegia 52 Spastic Paraplegia 56
Spastic Paraplegia 64 Spastic Paraplegia 66
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 Autosomal Dominant Spastic Paraplegia Type 9

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
7hirschsprung disease 89.8FA2H, FAAH

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

About this section

Symptoms by clinical synopsis from OMIM:

612319

Clinical features from OMIM:

612319

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

(show all 26)
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 spastic paraplegia HP:0001258
11 dysarthria HP:0001260
12 mental deterioration HP:0001268
13 cerebellar atrophy HP:0001272
14 spastic tetraparesis HP:0001285
15 dysmetria HP:0001310
16 dystonia HP:0001332
17 lower limb spasticity HP:0002061
18 hypoplasia of the corpus callosum HP:0002079
19 neurodegeneration HP:0002180
20 spastic paraparesis HP:0002313
21 difficulty walking HP:0002355
22 abnormality of the periventricular white matter HP:0002518
23 babinski sign HP:0003487
24 progressive HP:0003676
25 dysmyelinating leukodystrophy HP:0006978
26 ankle clonus HP:0011448

Drugs & Therapeutics for Spastic Paraplegia 35, Autosomal Recessive

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Spastic Paraplegia 35, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 35, Autosomal Recessive

About this section

Genetic tests related to Spastic Paraplegia 35, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Fatty Acid Hydroxylase-Associated Neurodegeneration22 FA2H
2 Dysmyelinating Leukodystrophy and Spastic Paraparesis with or Without Dystonia22

Anatomical Context for Spastic Paraplegia 35, Autosomal Recessive

About this section

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

33
Brain, Eye, Bone

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

About this section

Publications for Spastic Paraplegia 35, Autosomal Recessive

About this section

Variations for Spastic Paraplegia 35, Autosomal Recessive

About this section

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

67
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:

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.150_159dupGCGGGCCAGG (p.Asp57Glyfs)duplicationLikely pathogenicrs794729214GRCh37Chr 16, 74808495: 74808504
4FA2HNM_024306.4(FA2H): c.517C> T (p.Pro173Ser)single nucleotide variantLikely pathogenicGRCh38Chr 16, 74726321: 74726321
5FA2HNM_024306.4(FA2H): c.703C> T (p.Arg235Cys)single nucleotide variantPathogenicrs387907039GRCh37Chr 16, 74752969: 74752969
6FA2HNM_024306.4(FA2H): c.159_176del18 (p.Arg53_Ile58del)deletionPathogenicrs759947457GRCh37Chr 16, 74808478: 74808495
7FA2HNM_024306.4(FA2H): c.460C> T (p.Arg154Cys)single nucleotide variantPathogenicrs387907040GRCh37Chr 16, 74761188: 74761188
8FA2HNM_024306.4(FA2H): c.510_511delCA (p.Tyr170Terfs)deletionPathogenicrs587776891GRCh37Chr 16, 74760225: 74760226
9FA2HNM_024306.4(FA2H): c.707T> C (p.Phe236Ser)single nucleotide variantPathogenicrs387907172GRCh37Chr 16, 74752965: 74752965
10FA2HNG_017070.1: g.(39810_52446)_(66877_?)deldeletionPathogenicGRCh38Chr 16, 74712955: 74740022

Expression for genes affiliated with Spastic Paraplegia 35, Autosomal Recessive

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

Pathways for genes affiliated with Spastic Paraplegia 35, Autosomal Recessive

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1FA2H, FAAH
29.1FA2H, FAAH
3
Show member pathways
9.1FA2H, FAAH
4
Show member pathways
9.1FA2H, FAAH
5
Show member pathways
9.1FA2H, FAAH

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

About this section

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

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

Sources for Spastic Paraplegia 35, Autosomal Recessive

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet