SPG27
MCID: SPS111
MIFTS: 27

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, 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 58 74
Spg27 58 12 60
Autosomal Recessive Spastic Paraplegia Type 27 12 60
Hereditary Spastic Paraplegia 27 12 15
Spastic Paraplegia-27, Autosomal Recessive 13
Autosomal Recessive Spastic Paraplegia 27 12

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive spastic paraplegia type 27
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
adult onset (25-45 years)


HPO:

33
spastic paraplegia 27, autosomal recessive:
Onset and clinical course adult onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110778
OMIM 58 609041
ICD10 34 G11.4
ICD10 via Orphanet 35 G11.4
UMLS via Orphanet 75 C1836899
Orphanet 60 ORPHA101007
MedGen 43 C1836899
UMLS 74 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 cone-rod dystrophy and hearing loss 2 and spastic paraplegia 5a. An important gene associated with Spastic Paraplegia 27, Autosomal Recessive is SPG27 (Spastic Paraplegia 27 (Autosomal Recessive)). Affiliated tissues include skin, bone and eye, and related phenotypes are babinski sign and spastic paraplegia

Description from OMIM: 609041

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 Hereditary Spastic Paraplegia 23
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

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

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.1
2 spastic paraplegia 5a 11.1

Symptoms & Phenotypes for Spastic Paraplegia 27, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 27, Autosomal Recessive:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0003487
2 spastic paraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001258
3 lower limb hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002395
4 impaired vibration sensation at ankles 60 33 hallmark (90%) Very frequent (99-80%) HP:0006938
5 spastic/hyperactive bladder 60 33 hallmark (90%) Very frequent (99-80%) HP:0005340
6 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
7 dysdiadochokinesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002075
8 abnormality of somatosensory evoked potentials 60 33 occasional (7.5%) Occasional (29-5%) HP:0007377
9 sensorineural hearing impairment 60 33 very rare (1%) Very rare (<4-1%) HP:0000407
10 lower limb spasticity 33 HP:0002061

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin, Bone, Eye

Publications for Spastic Paraplegia 27, Autosomal Recessive

Articles related to Spastic Paraplegia 27, Autosomal Recessive:

# Title Authors Year
1
A new phenotype linked to SPG27 and refinement of the critical region on chromosome. ( 16511635 )
2006

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

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
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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