MCID: PRR042
MIFTS: 8

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 58 6
Pure or Complicated Autosomal Recessive Spastic Paraplegia 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G11.4
Orphanet 58 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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZFR NM_016107.5(ZFR):c.1387A>G (p.Thr463Ala)SNV Uncertain significance 571878 rs150408674 5:32403340-32403340 5:32403235-32403235
2 ZFR NM_016107.5(ZFR):c.1598_1600CTG[1] (p.Ala534del)short repeat Uncertain significance 574834 rs749212848 5:32400222-32400224 5:32400117-32400119
3 ZFR NM_016107.5(ZFR):c.2042G>A (p.Arg681His)SNV Uncertain significance 647901 5:32390481-32390481 5:32390375-32390375
4 ZFR NM_016107.5(ZFR):c.2006G>A (p.Arg669Lys)SNV Uncertain significance 640258 5:32390517-32390517 5:32390411-32390411
5 ZFR NM_016107.5(ZFR):c.1475T>C (p.Met492Thr)SNV Uncertain significance 654520 5:32403252-32403252 5:32403147-32403147
6 ZFR NM_016107.5(ZFR):c.688G>A (p.Val230Ile)SNV Uncertain significance 661696 5:32415170-32415170 5:32415065-32415065

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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