SPG69
MCID: ATS187
MIFTS: 18

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, 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 60
Spg69 60

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive spastic paraplegia type 69
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

Classifications:

Orphanet: 60  
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 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 Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 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 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 47
Spastic Paraplegia 51 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:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0001274
2 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
3 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
4 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
5 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
6 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
7 progressive spastic paraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0007020
8 abnormal myelination 60 33 frequent (33%) Frequent (79-30%) HP:0012447
9 spastic dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0002464
10 aplasia/hypoplasia of the cerebellar vermis 60 33 frequent (33%) Frequent (79-30%) HP:0006817
11 hand tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002378
12 abnormality of movement 60 Frequent (79-30%)
13 lower limb spasticity 60 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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