MCID: PRR042
MIFTS: 9

Pure or Complex Autosomal Recessive Spastic Paraplegia

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pure or Complex Autosomal Recessive Spastic Paraplegia

MalaCards integrated aliases for Pure or Complex Autosomal Recessive Spastic Paraplegia:

Name: Pure or Complex Autosomal Recessive Spastic Paraplegia 59 6
Pure or Complicated Autosomal Recessive Spastic Paraplegia 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G11.4
Orphanet 59 ORPHA320346

Summaries for Pure or Complex Autosomal Recessive Spastic Paraplegia

MalaCards based summary : Pure or Complex Autosomal Recessive Spastic Paraplegia, is also known as pure or complicated autosomal recessive spastic paraplegia. An important gene associated with Pure or Complex Autosomal Recessive Spastic Paraplegia is ZFR (Zinc Finger RNA Binding Protein).

Related Diseases for Pure or Complex Autosomal Recessive Spastic Paraplegia

Diseases in the Pure or Complex Hereditary Spastic Paraplegia family:

Pure or Complex Autosomal Dominant Spastic Paraplegia Pure or Complex Autosomal Recessive Spastic Paraplegia

Symptoms & Phenotypes for Pure or Complex Autosomal Recessive Spastic Paraplegia

Drugs & Therapeutics for Pure or Complex Autosomal Recessive Spastic Paraplegia

Search Clinical Trials , NIH Clinical Center for Pure or Complex Autosomal Recessive Spastic Paraplegia

Genetic Tests for Pure or Complex Autosomal Recessive Spastic Paraplegia

Anatomical Context for Pure or Complex Autosomal Recessive Spastic Paraplegia

Publications for Pure or Complex Autosomal Recessive Spastic Paraplegia

Variations for Pure or Complex Autosomal Recessive Spastic Paraplegia

ClinVar genetic disease variations for Pure or Complex Autosomal Recessive Spastic Paraplegia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ZFR NM_016107.5(ZFR): c.1387A> G (p.Thr463Ala) single nucleotide variant Uncertain significance 5:32403340-32403340 5:32403235-32403235
2 ZFR NM_016107.5(ZFR): c.1598_1600CTG[1] (p.Ala534del) short repeat Uncertain significance 5:32400222-32400224 5:32400117-32400119
3 ZFR NM_016107.5(ZFR): c.2042G> A (p.Arg681His) single nucleotide variant Uncertain significance 5:32390481-32390481 5:32390375-32390375
4 ZFR NM_016107.5(ZFR): c.2006G> A (p.Arg669Lys) single nucleotide variant Uncertain significance 5:32390517-32390517 5:32390411-32390411
5 ZFR NM_016107.5(ZFR): c.1475T> C (p.Met492Thr) single nucleotide variant Uncertain significance 5:32403252-32403252 5:32403147-32403147
6 ZFR NM_016107.5(ZFR): c.688G> A (p.Val230Ile) single nucleotide variant Uncertain significance 5:32415170-32415170 5:32415065-32415065
7 ZFR NM_016107.5(ZFR): c.1953A> G (p.Glu651=) single nucleotide variant Benign rs77829878 5:32395291-32395291 5:32395185-32395185
8 ZFR NM_016107.5(ZFR): c.1713+6T> C single nucleotide variant Benign rs143766228 5:32400106-32400106 5:32400001-32400001

Expression for Pure or Complex Autosomal Recessive Spastic Paraplegia

Search GEO for disease gene expression data for Pure or Complex Autosomal Recessive Spastic Paraplegia.

Pathways for Pure or Complex Autosomal Recessive Spastic Paraplegia

GO Terms for Pure or Complex Autosomal Recessive Spastic Paraplegia

Sources for Pure or Complex Autosomal Recessive Spastic Paraplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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