MCID: SPS054
MIFTS: 20

Spastic Paraplegia 35 malady

Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases, Mental diseases categories

Aliases & Classifications for Spastic Paraplegia 35

About this section

Aliases & Descriptions for Spastic Paraplegia 35:

Name: Spastic Paraplegia 35 22 24
Fatty Acid Hydroxylase-Associated Neurodegeneration 65
Spastic Paraplegia 35, Autosomal Recessive 22
 
Spg 35 22
Spg35 22


Classifications:



Summaries for Spastic Paraplegia 35

About this section
MalaCards based summary: Spastic Paraplegia 35, also known as fatty acid hydroxylase-associated neurodegeneration, is related to spastic paraplegia 35, autosomal recessive and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 35 is FA2H (Fatty Acid 2-Hydroxylase). Affiliated tissues include bone and eye.

Related Diseases for Spastic Paraplegia 35

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 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 35, autosomal recessive10.7
2hereditary spastic paraplegia10.2
3paraplegia10.2
4spasticity10.2
5spastic paraplegia 5a, autosomal recessive10.1

Graphical network of diseases related to Spastic Paraplegia 35:



Diseases related to spastic paraplegia 35

Symptoms for Spastic Paraplegia 35

About this section

Drugs & Therapeutics for Spastic Paraplegia 35

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Spastic Paraplegia 35

Genetic Tests for Spastic Paraplegia 35

About this section

Genetic tests related to Spastic Paraplegia 35:

id Genetic test Affiliating Genes
1 Spastic Paraplegia 3522 24 FA2H

Anatomical Context for Spastic Paraplegia 35

About this section

MalaCards organs/tissues related to Spastic Paraplegia 35:

33
Bone, Eye

Animal Models for Spastic Paraplegia 35 or affiliated genes

About this section

Publications for Spastic Paraplegia 35

About this section

Variations for Spastic Paraplegia 35

About this section

Clinvar genetic disease variations for Spastic Paraplegia 35:

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

Expression for genes affiliated with Spastic Paraplegia 35

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

Pathways for genes affiliated with Spastic Paraplegia 35

About this section

GO Terms for genes affiliated with Spastic Paraplegia 35

About this section

Sources for Spastic Paraplegia 35

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