MCID: SPS141
MIFTS: 34

Spastic Paraplegia 61, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 61, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 61, Autosomal Recessive:

Name: Spastic Paraplegia 61, Autosomal Recessive 57 75 29 6 73
Spg61 57 12 59 75
Autosomal Recessive Spastic Paraplegia Type 61 12 59
Hereditary Spastic Paraplegia 61 12 15
Paraplegia, Spastic, Type 61, Autosomal Recessive 40
Autosomal Recessive Spastic Paraplegia 61 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 61
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spastic paraplegia 61, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 61, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 spastic paraplegia 2, x-linked and spastic paraplegia 10, autosomal dominant, 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 spasticity and polyneuropathy

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

Description from OMIM: 615685

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 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 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 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

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 2, x-linked 9.3 ATL1 REEP1 RTN2
2 spastic paraplegia 10, autosomal dominant 9.3 ATL1 REEP1 RTN2
3 spastic paraplegia 8, autosomal dominant 9.2 ATL1 REEP1
4 spastic paraplegia 13, autosomal dominant 9.2 ATL1 SPAST
5 charcot-marie-tooth disease, axonal, type 2d 9.1 ATL1 SPAST
6 spastic paraplegia 33, autosomal dominant 9.1 REEP1 RTN2 SPAST
7 spastic paraplegia 6, autosomal dominant 8.8 ATL1 REEP1 SPAST
8 masa syndrome 8.8 ATL1 REEP1 SPAST
9 spastic paraplegia 31, autosomal dominant 8.4 ATL1 REEP1 RTN2 SPAST
10 spastic paraplegia 12, autosomal dominant 8.4 ATL1 REEP1 RTN2 SPAST
11 spastic paraplegia 4, autosomal dominant 8.4 ATL1 REEP1 RTN2 SPAST
12 spastic paraplegia 3, autosomal dominant 8.4 ATL1 REEP1 RTN2 SPAST
13 paraplegia 8.2 ATL1 REEP1 RTN2 SPAST
14 hereditary spastic paraplegia 8.1 ATL1 REEP1 RTN2 SPAST

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 61, Autosomal Recessive:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
2 polyneuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0001271
3 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
4 abnormality of the knee 59 32 frequent (33%) Frequent (79-30%) HP:0002815
5 abnormality of the achilles tendon 59 32 frequent (33%) Frequent (79-30%) HP:0005109
6 motor polyneuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007178
7 scissor gait 59 32 frequent (33%) Frequent (79-30%) HP:0012407
8 sensory neuropathy 32 HP:0000763
9 spastic paraplegia 32 HP:0001258
10 inability to walk 32 HP:0002540
11 absent achilles reflex 32 HP:0003438
12 hyperactive patellar reflex 32 HP:0007083

UMLS symptoms related to Spastic Paraplegia 61, Autosomal Recessive:


muscle spasticity

MGI Mouse Phenotypes related to Spastic Paraplegia 61, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.02 ARL6IP1 ATL1 DNM1L REEP1 SPAST

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

Variations for Spastic Paraplegia 61, Autosomal Recessive

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARL6IP1 NM_015161.2(ARL6IP1): c.577_580delAAAC (p.Lys193Phefs) deletion Pathogenic rs879255572 GRCh38 Chromosome 16, 18793284: 18793287
2 ARL6IP1 NM_015161.2(ARL6IP1): c.577_580delAAAC (p.Lys193Phefs) deletion Pathogenic rs879255572 GRCh37 Chromosome 16, 18804606: 18804609
3 ARL6IP1 NM_015161.2(ARL6IP1): c.409-2A> G single nucleotide variant Uncertain significance rs767874638 GRCh37 Chromosome 16, 18806007: 18806007
4 ARL6IP1 NM_015161.2(ARL6IP1): c.409-2A> G single nucleotide variant Uncertain significance rs767874638 GRCh38 Chromosome 16, 18794685: 18794685
5 ARL6IP1 NM_015161.2(ARL6IP1): c.490A> C (p.Ile164Leu) single nucleotide variant Uncertain significance rs200377377 GRCh37 Chromosome 16, 18805924: 18805924
6 ARL6IP1 NM_015161.2(ARL6IP1): c.490A> C (p.Ile164Leu) single nucleotide variant Uncertain significance rs200377377 GRCh38 Chromosome 16, 18794602: 18794602
7 ARL6IP1 NM_015161.2(ARL6IP1): c.494-9T> A single nucleotide variant Likely benign rs187822079 GRCh37 Chromosome 16, 18804701: 18804701
8 ARL6IP1 NM_015161.2(ARL6IP1): c.494-9T> A single nucleotide variant Likely benign rs187822079 GRCh38 Chromosome 16, 18793379: 18793379

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:

# Name GO ID Score Top Affiliating Genes
1 endomembrane system GO:0012505 9.43 ARL6IP1 DNM1L RTN2
2 endoplasmic reticulum GO:0005783 9.43 ARL6IP1 ATL1 DNM1L REEP1 RTN2 SPAST
3 mitochondrial membrane GO:0031966 9.37 DNM1L REEP1
4 integral component of endoplasmic reticulum membrane GO:0030176 9.32 ARL6IP1 RTN2
5 endoplasmic reticulum tubular network GO:0071782 9.16 ATL1 REEP1
6 endoplasmic reticulum membrane GO:0005789 9.1 ARL6IP1 ATL1 DNM1L REEP1 RTN2 SPAST

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

# Name GO ID Score Top Affiliating Genes
1 axonogenesis GO:0007409 9.26 ATL1 SPAST
2 endoplasmic reticulum organization GO:0007029 9.16 ATL1 DNM1L
3 protein homooligomerization GO:0051260 9.13 ATL1 DNM1L SPAST
4 endoplasmic reticulum tubular network membrane organization GO:1990809 8.62 ARL6IP1 ATL1

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.8 DNM1L REEP1 SPAST

Sources for Spastic Paraplegia 61, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....