SPG27
MCID: SPS111
MIFTS: 29

Spastic Paraplegia 27, Autosomal Recessive (SPG27)

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 27, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 27, Autosomal Recessive:

Name: Spastic Paraplegia 27, Autosomal Recessive 56 71
Spg27 56 12 58
Autosomal Recessive Spastic Paraplegia Type 27 12 58
Hereditary Spastic Paraplegia 27 12 15
Spastic Paraplegia-27, Autosomal Recessive 13
Autosomal Recessive Spastic Paraplegia 27 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 27
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
adult onset (25-45 years)


HPO:

31
spastic paraplegia 27, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110778
OMIM 56 609041
OMIM Phenotypic Series 56 PS303350
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1836899
Orphanet 58 ORPHA101007
MedGen 41 C1836899
UMLS 71 C1836899

Summaries for Spastic Paraplegia 27, Autosomal Recessive

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.

MalaCards based summary : Spastic Paraplegia 27, Autosomal Recessive, also known as spg27, is related to spastic paraplegia 5a and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 27, Autosomal Recessive is SPG27 (Spastic Paraplegia 27 (Autosomal Recessive)), and among its related pathways/superpathways is Amino Acid metabolism. Affiliated tissues include eye, bone and skin, and related phenotypes are babinski sign and spastic paraplegia

More information from OMIM: 609041 PS303350

Related Diseases for Spastic Paraplegia 27, 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 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

Diseases related to Spastic Paraplegia 27, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 5a 32.1 SPG27 ALDH18A1
2 hereditary spastic paraplegia 30.4 SPG27 SPG21 SLC33A1 KIF1C FLRT1 ERLIN1
3 paraplegia 29.7 SPG21 SLC33A1 ERLIN1 ALDH18A1
4 spastic paraplegia 73, autosomal dominant 10.2 SPG21 KIF1C
5 polyneuropathy 10.2
6 spastic paraparesis 10.2
7 spastic paraplegia 36, autosomal dominant 10.2 SPG21 KIF1C
8 spastic paraplegia 30, autosomal recessive 10.2 SPG21 KIF1C
9 spastic paraplegia 46, autosomal recessive 10.2 SPG21 KIF1C
10 spastic ataxia 10.1 MARS2 KIF1C
11 spastic paraplegia 32, autosomal recessive 10.1 SPG21 SLC33A1
12 spastic paraplegia 33, autosomal dominant 10.1 SPG21 SLC33A1
13 spastic paraplegia 44, autosomal recessive 10.1 SPG21 SLC33A1
14 spastic paraplegia 24, autosomal recessive 10.1 SPG21 KIF1C
15 spastic paraplegia 39, autosomal recessive 10.0 SPG21 SLC33A1
16 spastic paraplegia 12, autosomal dominant 10.0 SPG21 SLC33A1
17 spastic paraplegia 26, autosomal recessive 10.0 SPG21 SLC33A1
18 spastic paraplegia 6, autosomal dominant 9.9 SPG21 SLC33A1
19 hereditary spastic paraplegia 23 9.9 SPG21 SLC33A1 KIF1C
20 spastic paraplegia 8, autosomal dominant 9.9 SPG21 SLC33A1
21 spastic paraplegia 14, autosomal recessive 9.8 SPG21 SLC33A1 ALDH18A1
22 spastic paraplegia 4, autosomal dominant 9.8 SPG21 SLC33A1
23 spastic ataxia 2 9.8 MARS2 KIF1C ERLIN1
24 spastic paraplegia 45, autosomal recessive 9.5 SPG21 MARS2 KIF1C ERLIN1
25 spastic ataxia 3 9.4 MARS2 KIF1C FLRT1 ERLIN1
26 spastic paraplegia 34, x-linked 9.1 SPG21 SLC33A1 PLEKHG4 ATXN8OS
27 spastic paraplegia 37, autosomal dominant 9.1 SPG21 SLC33A1 PLEKHG4 ATXN8OS
28 spastic paraplegia 25, autosomal recessive 9.0 SPG21 SLC33A1 PLEKHG4 ATXN8OS
29 aceruloplasminemia 8.8 SLC33A1 PLEKHG4 ATXN8OS
30 spastic paraplegia 29, autosomal dominant 8.8 SPG21 SLC33A1 PLEKHG4 ATXN8OS ALDH18A1
31 spastic paraplegia 16, x-linked 8.8 SPG21 SLC33A1 PLEKHG4 ATXN8OS ALDH18A1
32 spastic paraplegia 19, autosomal dominant 8.8 SPG21 SLC33A1 PLEKHG4 ATXN8OS ALDH18A1

Graphical network of the top 20 diseases related to Spastic Paraplegia 27, Autosomal Recessive:



Diseases related to Spastic Paraplegia 27, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 27, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 27, Autosomal Recessive:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
2 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
3 lower limb hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002395
4 spastic/hyperactive bladder 58 31 hallmark (90%) Very frequent (99-80%) HP:0005340
5 impaired vibration sensation at ankles 58 31 hallmark (90%) Very frequent (99-80%) HP:0006938
6 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
7 dysdiadochokinesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002075
8 abnormality of somatosensory evoked potentials 58 31 occasional (7.5%) Occasional (29-5%) HP:0007377
9 sensorineural hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000407
10 lower limb spasticity 31 HP:0002061

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dysarthria
lower limb spasticity
lower limb hyperreflexia
extensor plantar responses
normal muscle strength
more
Genitourinary Bladder:
spastic/hyperactive bladder

Clinical features from OMIM:

609041

Drugs & Therapeutics for Spastic Paraplegia 27, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 27, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 27, Autosomal Recessive

Anatomical Context for Spastic Paraplegia 27, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 27, Autosomal Recessive:

40
Eye, Bone, Skin

Publications for Spastic Paraplegia 27, Autosomal Recessive

Articles related to Spastic Paraplegia 27, Autosomal Recessive:

# Title Authors PMID Year
1
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. 61 56
15455396 2004
2
Hereditary Spastic Paraplegia Overview 6
20301682 2000
3
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 61
18394049 2008
4
A new phenotype linked to SPG27 and refinement of the critical region on chromosome. 61
16511635 2006
5
Cloning and characterization of leaf senescence up-regulated genes in sweet potato. 61
12060284 2001

Variations for Spastic Paraplegia 27, Autosomal Recessive

Expression for Spastic Paraplegia 27, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 27, Autosomal Recessive.

Pathways for Spastic Paraplegia 27, Autosomal Recessive

Pathways related to Spastic Paraplegia 27, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.58 MARS2 ALDH18A1

GO Terms for Spastic Paraplegia 27, Autosomal Recessive

Sources for Spastic Paraplegia 27, 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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