SPG61
MCID: SPS141
MIFTS: 36

Spastic Paraplegia 61, Autosomal Recessive (SPG61)

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 Spastic Paraplegia 61, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 61, Autosomal Recessive:

Name: Spastic Paraplegia 61, Autosomal Recessive 56 73 29 6 71
Spg61 56 12 58 73
Autosomal Recessive Spastic Paraplegia Type 61 12 58
Hereditary Spastic Paraplegia 61 12 15
Paraplegia, Spastic, Type 61, Autosomal Recessive 39
Autosomal Recessive Spastic Paraplegia 61 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 61
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on 2 siblings in a consanguineous family (last curated august 2015)


HPO:

31
spastic paraplegia 61, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110812
OMIM 56 615685
OMIM Phenotypic Series 56 PS303350
MeSH 43 D015419
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
Orphanet 58 ORPHA401780
UMLS 71 C3810294

Summaries for Spastic Paraplegia 61, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 61, autosomal recessive: A complicated form of spastic paraplegia with polysensory and motor neuropathy. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

MalaCards based summary : Spastic Paraplegia 61, Autosomal Recessive, also known as spg61, is related to hereditary spastic paraplegia and paraplegia, and has symptoms including muscle spasticity An important gene associated with Spastic Paraplegia 61, Autosomal Recessive is ARL6IP1 (ADP Ribosylation Factor Like GTPase 6 Interacting Protein 1). Related phenotypes are polyneuropathy and difficulty walking

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ARL6IP1 gene on chromosome 16p12.

More information from OMIM: 615685 PS303350

Related Diseases for Spastic Paraplegia 61, Autosomal Recessive

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 Dominant
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
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 30
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

Diseases related to Spastic Paraplegia 61, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 73, show less)
# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 26.5 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP2
2 paraplegia 26.5 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP2
3 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.1 RTN2 AP5Z1
4 spastic paraplegia 57, autosomal recessive 10.0 SPG11 REEP1
5 spastic paraplegia 53, autosomal recessive 9.9 RTN2 ATL1 AP5Z1
6 pure hereditary spastic paraplegia 9.9 SPAST RTN2 ATL1
7 spastic diplegia 9.9 SPAST RAB3GAP2
8 autosomal dominant distal hereditary motor neuronopathy 9.9 REEP1 ATL1
9 spastic paraplegia 27, autosomal recessive 9.8 SPG21 REEP1
10 neuronopathy, distal hereditary motor, type va 9.8 RTN2 REEP2 REEP1 ATL1
11 spastic paraplegia 28, autosomal recessive 9.8 SPG11 REEP1 AP5Z1
12 spastic paraparesis 9.7 SPG11 SPAST
13 spastic paraplegia 41, autosomal dominant 9.7 SPG21 SPAST
14 neurodegeneration with brain iron accumulation 5 9.7 ZFYVE26 SPG11
15 spastic paraplegia 64, autosomal recessive 9.7 SPG21 SPG11
16 spastic paraplegia 32, autosomal recessive 9.7 SPG21 SPG11
17 spastic paraplegia 45, autosomal recessive 9.7 SPG21 SPG11
18 spastic paraplegia 29, autosomal dominant 9.6 ZFYVE26 SPG21
19 spastic paraplegia 63, autosomal recessive 9.6 SPG21 SPG11
20 motor peripheral neuropathy 9.6 ZFYVE26 SPG11 REEP1
21 spastic paraplegia 25, autosomal recessive 9.6 ZFYVE26 SPG21
22 spastic paraplegia 19, autosomal dominant 9.6 ZFYVE26 SPG21
23 mast syndrome 9.6 SPG21 SPG11
24 spastic paraplegia 34, x-linked 9.6 ZFYVE26 SPG21
25 spastic paraplegia 73, autosomal dominant 9.6 SPG21 REEP1 ATL1
26 charcot-marie-tooth disease, axonal, type 2r 9.6 ZFYVE26 SPG21
27 spasticity 9.6 SPAST REEP1
28 motor neuron disease 9.6 SPAST RAB3GAP2 ARL6IP1
29 amyotrophic lateral sclerosis type 5 9.6 ZFYVE26 SPG11 AP5Z1
30 charcot-marie-tooth disease, axonal, type 2t 9.5 ZFYVE26 SPG21
31 autosomal dominant non-syndromic intellectual disability 9 9.5 ZFYVE26 RTN2 REEP1 AP5Z1
32 spastic paraplegia 43, autosomal recessive 9.5 SPG11 SPAST ATL1 ARL6IP1
33 spastic paraplegia 37, autosomal dominant 9.4 ZFYVE26 SPG21 REEP1
34 neuropathy, hereditary sensory, type iic 9.3 SPG21 SPG11 RTN2 REEP1
35 spastic paraplegia 5a, autosomal recessive 9.3 ZFYVE26 SPG11 SPAST REEP2
36 hereditary spastic paraplegia 23 9.3 ZFYVE26 SPG21 SPG11
37 spastic paraplegia 49, autosomal recessive 9.3 ZFYVE26 SPG21 SPG11
38 spastic paraplegia 55, autosomal recessive 9.3 ZFYVE26 SPG21 SPG11
39 spastic paraplegia 54, autosomal recessive 9.2 SPG21 SPG11 REEP1 AP5Z1
40 spastic paraplegia 14, autosomal recessive 9.1 SPG21 SPG11 SPAST ATL1
41 spastic paraplegia 11, autosomal recessive 9.0 SPG21 SPG11 SPAST AP5Z1
42 spastic paraplegia 44, autosomal recessive 9.0 ZFYVE26 SPG21 SPG11 AP5Z1
43 spastic paraplegia 56, autosomal recessive 9.0 ZFYVE26 SPG21 SPG11 AP5Z1
44 charcot-marie-tooth disease 8.9 ZFYVE26 SPG11 SPAST REEP1 ATL1
45 spastic paraplegia 16, x-linked 8.9 ZFYVE26 SPG21 SPG11 SPAST
46 charcot-marie-tooth disease, axonal, type 2e 8.9 ZFYVE26 SPG21 SPG11 SPAST
47 spastic paraplegia 3, autosomal dominant 8.8 ZFYVE26 SPG11 SPAST RTN2 REEP1 ATL1
48 hereditary spastic paraplegia 51 8.8 ZFYVE26 SPG21 SPG11 RTN2 AP5Z1
49 spastic paraplegia 52, autosomal recessive 8.8 ZFYVE26 SPG21 SPG11 RTN2 AP5Z1
50 spastic paraplegia 50, autosomal recessive 8.8 ZFYVE26 SPG21 SPG11 RTN2 AP5Z1
51 spastic paraplegia 18, autosomal recessive 8.7 ZFYVE26 SPG21 SPG11 REEP1 AP5Z1
52 spastic paraplegia 47, autosomal recessive 8.7 ZFYVE26 SPG21 SPG11 REEP1 AP5Z1
53 spastic paraplegia 35, autosomal recessive 8.7 ZFYVE26 SPG21 SPG11 REEP1 AP5Z1
54 spastic paraplegia 20, autosomal recessive 8.7 ZFYVE26 SPG21 SPG11 SPAST ATL1
55 spastic paraplegia 46, autosomal recessive 8.6 ZFYVE26 SPG21 SPG11 SPAST AP5Z1
56 hereditary spastic paraplegia 30 8.6 SPG21 SPG11 SPAST REEP1 ATL1 AP5Z1
57 spastic paraplegia 42, autosomal dominant 8.5 ZFYVE26 SPG11 SPAST RTN2 REEP1 ATL1
58 spastic paraplegia 26, autosomal recessive 8.5 ZFYVE26 SPG21 SPG11 SPAST REEP2 REEP1
59 spastic paraplegia 17, autosomal dominant 8.4 ZFYVE26 SPG21 SPG11 SPAST REEP1 ATL1
60 spastic paraplegia 39, autosomal recessive 8.3 ZFYVE26 SPG21 SPG11 SPAST ATL1 AP5Z1
61 spastic paraplegia 13, autosomal dominant 8.3 SPG21 SPG11 SPAST RTN2 REEP1 ATL1
62 spastic paraplegia 8, autosomal dominant 8.1 ZFYVE26 SPG21 SPG11 SPAST REEP1 ATL1
63 spastic paraplegia 6, autosomal dominant 8.1 ZFYVE26 SPG21 SPG11 SPAST REEP1 ATL1
64 spastic paraplegia 48, autosomal recessive 7.9 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP1
65 spastic paraplegia 33, autosomal dominant 7.9 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP1
66 spastic paraplegia 10, autosomal dominant 7.9 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP1
67 spastic paraplegia 2, x-linked 7.9 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP1
68 masa syndrome 7.9 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP1
69 spastic paraplegia 15, autosomal recessive 7.8 ZFYVE26 SPG21 SPG11 SPAST REEP2 REEP1
70 spastic paraplegia 31, autosomal dominant 7.6 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP2
71 spastic paraplegia 4, autosomal dominant 7.6 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP2
72 spastic paraplegia 12, autosomal dominant 7.4 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP2
73 hereditary spastic paraplegia 72 7.1 ZFYVE26 SPG21 SPG11 SPAST RTN2 REEP2

Graphical network of the top 20 diseases related to Spastic Paraplegia 61, Autosomal Recessive:



Diseases related to Spastic Paraplegia 61, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 61, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 61, Autosomal Recessive:

58 31 (showing 12, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polyneuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0001271
2 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
3 abnormality of the knee 58 31 frequent (33%) Frequent (79-30%) HP:0002815
4 abnormality of the achilles tendon 58 31 frequent (33%) Frequent (79-30%) HP:0005109
5 motor polyneuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007178
6 scissor gait 58 31 frequent (33%) Frequent (79-30%) HP:0012407
7 hyperactive patellar reflex 58 31 frequent (33%) Frequent (79-30%) HP:0007083
8 spasticity 58 Frequent (79-30%)
9 sensory neuropathy 31 HP:0000763
10 spastic paraplegia 31 HP:0001258
11 inability to walk 31 HP:0002540
12 absent achilles reflex 31 HP:0003438

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
spasticity
can walk with support with difficulty
scissors gait
plantar reflex
absent achilles tendon reflex
more
Skeletal Hands:
acropathy
loss of terminal digits

Neurologic Central Nervous System:
normal cognition

Clinical features from OMIM:

615685

UMLS symptoms related to Spastic Paraplegia 61, Autosomal Recessive:


muscle spasticity

Drugs & Therapeutics for Spastic Paraplegia 61, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 61, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 61, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 61, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 61, Autosomal Recessive 29 ARL6IP1

Anatomical Context for Spastic Paraplegia 61, Autosomal Recessive

Publications for Spastic Paraplegia 61, Autosomal Recessive

Articles related to Spastic Paraplegia 61, Autosomal Recessive:

(showing 5, show less)
# Title Authors PMID Year
1
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 6 56
24482476 2014
2
Hereditary Spastic Paraplegia Overview 6
20301682 2000
3
A new case of infantile-onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family. 61
30980493 2019
4
ER-shaping proteins are required for ER and mitochondrial network organization in motor neurons. 61
27170313 2016
5
Rare disease models provide insight into inherited forms of neurodegeneration. 61
28603788 2016

Variations for Spastic Paraplegia 61, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 61, Autosomal Recessive:

6 (showing 11, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARL6IP1 NM_015161.3(ARL6IP1):c.573_576AAAC[1] (p.Lys193fs)short repeat Pathogenic 101079 rs879255572 16:18804606-18804609 16:18793284-18793287
2 ARL6IP1 NC_000016.9:g.(?_18804554)_(18812808_?)dupduplication Uncertain significance 584319 16:18804554-18812808 16:18793232-18801486
3 ARL6IP1 NM_015161.3(ARL6IP1):c.26C>G (p.Thr9Ser)SNV Uncertain significance 583366 rs747185659 16:18812763-18812763 16:18801441-18801441
4 ARL6IP1 NM_015161.3(ARL6IP1):c.408+4C>GSNV Uncertain significance 657883 16:18806782-18806782 16:18795460-18795460
5 ARL6IP1 NM_015161.3(ARL6IP1):c.409-2A>GSNV Uncertain significance 474862 rs767874638 16:18806007-18806007 16:18794685-18794685
6 ARL6IP1 NM_015161.3(ARL6IP1):c.490A>C (p.Ile164Leu)SNV Uncertain significance 474863 rs200377377 16:18805924-18805924 16:18794602-18794602
7 ARL6IP1 NC_000016.10:g.(?_18793242)_(18801476_?)dupduplication Uncertain significance 831394 16:18804564-18812798
8 ARL6IP1 NM_015161.3(ARL6IP1):c.177C>T (p.Ile59=)SNV Likely benign 772179 16:18809360-18809360 16:18798038-18798038
9 ARL6IP1 NM_015161.3(ARL6IP1):c.494-9T>ASNV Likely benign 541704 rs187822079 16:18804701-18804701 16:18793379-18793379
10 ARL6IP1 NM_015161.3(ARL6IP1):c.204C>T (p.Ser68=)SNV Benign 703992 16:18809333-18809333 16:18798011-18798011
11 ARL6IP1 NM_015161.3(ARL6IP1):c.29A>G (p.Asn10Ser)SNV Benign 704124 16:18812760-18812760 16:18801438-18801438

Expression for Spastic Paraplegia 61, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 61, Autosomal Recessive.

Pathways for Spastic Paraplegia 61, Autosomal Recessive

GO Terms for Spastic Paraplegia 61, Autosomal Recessive

Cellular components related to Spastic Paraplegia 61, Autosomal Recessive according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.91 ZFYVE26 SPG21 SPG11 SPAST REEP1 RAB3GAP2
2 endoplasmic reticulum GO:0005783 9.63 SPAST RTN2 REEP2 REEP1 ATL1 ARL6IP1
3 cytoplasmic microtubule GO:0005881 9.32 REEP2 REEP1
4 endoplasmic reticulum membrane GO:0005789 9.17 SPAST RTN2 REEP2 REEP1 RAB3GAP2 ATL1
5 endoplasmic reticulum tubular network GO:0071782 9.13 REEP2 REEP1 ATL1

Biological processes related to Spastic Paraplegia 61, Autosomal Recessive according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 mitotic cytokinesis GO:0000281 9.26 ZFYVE26 SPAST
2 endoplasmic reticulum tubular network organization GO:0071786 9.16 REEP2 REEP1
3 endoplasmic reticulum tubular network membrane organization GO:1990809 8.96 ATL1 ARL6IP1
4 regulation of intracellular transport GO:0032386 8.62 REEP2 REEP1

Molecular functions related to Spastic Paraplegia 61, Autosomal Recessive according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.8 SPAST REEP2 REEP1

Sources for Spastic Paraplegia 61, Autosomal Recessive

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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