SPG66
MCID: ATS190
MIFTS: 12

Autosomal Recessive Spastic Paraplegia Type 66 (SPG66)

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 66

MalaCards integrated aliases for Autosomal Recessive Spastic Paraplegia Type 66:

Name: Autosomal Recessive Spastic Paraplegia Type 66 59
Spg66 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 66
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G11.4
Orphanet 59 ORPHA401815

Summaries for Autosomal Recessive Spastic Paraplegia Type 66

MalaCards based summary : Autosomal Recessive Spastic Paraplegia Type 66, is also known as spg66. An important gene associated with Autosomal Recessive Spastic Paraplegia Type 66 is ARSI (Arylsulfatase Family Member I). Related phenotypes are intellectual disability and areflexia

Related Diseases for Autosomal Recessive Spastic Paraplegia Type 66

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 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 66

Human phenotypes related to Autosomal Recessive Spastic Paraplegia Type 66:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 areflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001284
3 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
4 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
5 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
6 impaired vibration sensation in the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002166
7 progressive spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0007020
8 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
9 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
10 colpocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0030048
11 lower limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007210
12 limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0002509
13 chronic sensorineural polyneuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0001301
14 lower limb spasticity 59 Frequent (79-30%)

Drugs & Therapeutics for Autosomal Recessive Spastic Paraplegia Type 66

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Spastic Paraplegia Type 66

Genetic Tests for Autosomal Recessive Spastic Paraplegia Type 66

Anatomical Context for Autosomal Recessive Spastic Paraplegia Type 66

Publications for Autosomal Recessive Spastic Paraplegia Type 66

Variations for Autosomal Recessive Spastic Paraplegia Type 66

Expression for Autosomal Recessive Spastic Paraplegia Type 66

Search GEO for disease gene expression data for Autosomal Recessive Spastic Paraplegia Type 66.

Pathways for Autosomal Recessive Spastic Paraplegia Type 66

GO Terms for Autosomal Recessive Spastic Paraplegia Type 66

Sources for Autosomal Recessive Spastic Paraplegia Type 66

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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