SPG69
MCID: ATS187
MIFTS: 14

Autosomal Recessive Spastic Paraplegia Type 69 (SPG69)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Autosomal Recessive Spastic Paraplegia Type 69

MalaCards integrated aliases for Autosomal Recessive Spastic Paraplegia Type 69:

Name: Autosomal Recessive Spastic Paraplegia Type 69 58
Spg69 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 69
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Autosomal Recessive Spastic Paraplegia Type 69

MalaCards based summary : Autosomal Recessive Spastic Paraplegia Type 69, is also known as spg69. An important gene associated with Autosomal Recessive Spastic Paraplegia Type 69 is RAB3GAP2 (RAB3 GTPase Activating Non-Catalytic Protein Subunit 2). Related phenotypes are agenesis of corpus callosum and hearing impairment

Related Diseases for Autosomal Recessive Spastic Paraplegia Type 69

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, Autosomal Recessive 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 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 32
Spastic Paraplegia 39 Spastic Paraplegia 47
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 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

Symptoms & Phenotypes for Autosomal Recessive Spastic Paraplegia Type 69

Human phenotypes related to Autosomal Recessive Spastic Paraplegia Type 69:

58 31 (showing 13, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
2 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
3 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
6 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
7 progressive spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0007020
8 abnormal myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012447
9 spastic dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002464
10 aplasia/hypoplasia of the cerebellar vermis 58 31 frequent (33%) Frequent (79-30%) HP:0006817
11 hand tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002378
12 abnormality of movement 58 Frequent (79-30%)
13 lower limb spasticity 58 Frequent (79-30%)

Drugs & Therapeutics for Autosomal Recessive Spastic Paraplegia Type 69

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Spastic Paraplegia Type 69

Genetic Tests for Autosomal Recessive Spastic Paraplegia Type 69

Anatomical Context for Autosomal Recessive Spastic Paraplegia Type 69

Publications for Autosomal Recessive Spastic Paraplegia Type 69

Variations for Autosomal Recessive Spastic Paraplegia Type 69

Expression for Autosomal Recessive Spastic Paraplegia Type 69

Search GEO for disease gene expression data for Autosomal Recessive Spastic Paraplegia Type 69.

Pathways for Autosomal Recessive Spastic Paraplegia Type 69

GO Terms for Autosomal Recessive Spastic Paraplegia Type 69

Sources for Autosomal Recessive Spastic Paraplegia Type 69

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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