SPG14
MCID: SPS068
MIFTS: 29

Spastic Paraplegia 14, Autosomal Recessive (SPG14)

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 14, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 14, Autosomal Recessive:

Name: Spastic Paraplegia 14, Autosomal Recessive 56 13 71
Spg14 56 12 58
Autosomal Recessive Spastic Paraplegia Type 14 12 58
Hereditary Spastic Paraplegia 14 12 15
Autosomal Recessive Spastic Paraplegia 14 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 14
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
mean age of onset 30 years
genetic heterogeneity, see spg5a


HPO:

31
spastic paraplegia 14, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110767
OMIM 56 605229
OMIM Phenotypic Series 56 PS303350
ICD10 32 G11.4
MESH via Orphanet 44 C537486
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1854568
Orphanet 58 ORPHA100995
MedGen 41 C1854568
UMLS 71 C1854568

Summaries for Spastic Paraplegia 14, Autosomal Recessive

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.

MalaCards based summary : Spastic Paraplegia 14, Autosomal Recessive, also known as spg14, is related to spastic paraplegia 5a and paraplegia. An important gene associated with Spastic Paraplegia 14, Autosomal Recessive is SPG14 (Spastic Paraplegia 14 (Autosomal Recessive)). Related phenotypes are intellectual disability, mild and hyperreflexia

More information from OMIM: 605229 PS303350

Related Diseases for Spastic Paraplegia 14, 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 14, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 5a 32.3 SPG14 ALDH18A1
2 paraplegia 28.6 SPG21 SPG11 SPAST SLC33A1 ATL1 ALDH18A1
3 spastic paraplegia 14 11.5
4 hereditary spastic paraplegia 51 10.2 SPG21 SPG11
5 spastic paraplegia 64, autosomal recessive 10.2 SPG21 SPG11
6 neuropathy, hereditary sensory, type iic 10.2 SPG21 SPG11
7 neuropathy 10.2
8 spasticity 10.2
9 spastic paraplegia 52, autosomal recessive 10.2 SPG21 SPG11
10 spastic paraplegia 49, autosomal recessive 10.2 SPG21 SPG11
11 spastic paraplegia 45, autosomal recessive 10.2 SPG21 SPG11
12 spastic paraplegia 50, autosomal recessive 10.2 SPG21 SPG11
13 spastic paraplegia 18, autosomal recessive 10.2 SPG21 SPG11
14 spastic paraplegia 63, autosomal recessive 10.1 SPG21 SPG11
15 spastic paraplegia 47, autosomal recessive 10.1 SPG21 SPG11
16 spastic paraplegia 53, autosomal recessive 10.1 SLC33A1 ATL1
17 spastic paraplegia 55, autosomal recessive 10.1 SPG21 SPG11
18 spastic paraplegia 73, autosomal dominant 10.1 SPG21 ATL1
19 spastic paraplegia 54, autosomal recessive 10.1 SPG21 SPG11
20 spastic paraplegia 56, autosomal recessive 10.0 SPG21 SPG11
21 mast syndrome 10.0 SPG21 SPG11
22 hereditary spastic paraplegia 23 9.9 SPG21 SPG11 SLC33A1
23 spastic paraplegia 32, autosomal recessive 9.9 SPG21 SPG11 SLC33A1
24 spastic paraplegia 44, autosomal recessive 9.9 SPG21 SPG11 SLC33A1
25 spastic paraplegia 35, autosomal recessive 9.9 SPG21 SPG11
26 pure hereditary spastic paraplegia 9.9 SPAST ATL1
27 spastic paraplegia 5a, autosomal recessive 9.9 SPG11 SPAST
28 spastic paraplegia 41, autosomal dominant 9.8 SPG21 SPAST
29 spastic paraparesis 9.7 SPG11 SPAST ALDH18A1
30 spastic paraplegia 3, autosomal dominant 9.7 SPG11 SPAST ATL1
31 spastic paraplegia 46, autosomal recessive 9.6 SPG21 SPG11 SPAST
32 spastic paraplegia 11, autosomal recessive 9.6 SPG21 SPG11 SPAST
33 hereditary spastic paraplegia 72 9.4 SPG21 SPG11 SPAST ATL1
34 hereditary spastic paraplegia 30 9.4 SPG21 SPG11 SPAST ATL1
35 spastic paraplegia 61, autosomal recessive 9.4 SPG21 SPG11 SPAST ATL1
36 spastic paraplegia 48, autosomal recessive 9.4 SPG21 SPG11 SPAST ATL1
37 spastic paraplegia 12, autosomal dominant 9.4 SPG21 SPG11 SPAST ATL1
38 spastic paraplegia 31, autosomal dominant 9.4 SPG21 SPG11 SPAST ATL1
39 spastic paraplegia 15, autosomal recessive 9.4 SPG21 SPG11 SPAST ATL1
40 spastic paraplegia 10, autosomal dominant 9.4 SPG21 SPG11 SPAST ATL1
41 spastic paraplegia 2, x-linked 9.4 SPG21 SPG11 SPAST ATL1
42 spastic paraplegia 20, autosomal recessive 9.4 SPG21 SPG11 SPAST ATL1
43 spastic paraplegia 17, autosomal dominant 9.4 SPG21 SPG11 SPAST ATL1
44 masa syndrome 9.4 SPG21 SPG11 SPAST ATL1
45 spastic paraplegia 43, autosomal recessive 9.4 SPG11 SPAST SLC33A1 ATL1
46 spastic paraplegia 42, autosomal dominant 9.4 SPG11 SPAST SLC33A1 ATL1
47 spastic paraplegia 26, autosomal recessive 9.3 SPG21 SPG11 SPAST SLC33A1
48 spastic paraplegia 25, autosomal recessive 9.3 SPG21 SLC33A1 PLEKHG4 ATXN8OS
49 spastic paraplegia 37, autosomal dominant 9.3 SPG21 SLC33A1 PLEKHG4 ATXN8OS
50 spastic paraplegia 34, x-linked 9.3 SPG21 SLC33A1 PLEKHG4 ATXN8OS

Graphical network of the top 20 diseases related to Spastic Paraplegia 14, Autosomal Recessive:



Diseases related to Spastic Paraplegia 14, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 14, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 14, Autosomal Recessive:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
2 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
3 pes cavus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001761
4 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
5 motor axonal neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007002
6 spastic gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002064
7 lower limb hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006895
8 spastic paraplegia 31 HP:0001258
9 lower limb spasticity 31 HP:0002061
10 lower limb muscle weakness 31 HP:0007340

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
spastic gait
mental retardation, mild
extensor plantar responses
more
Neurologic Peripheral Nervous System:
distal motor neuropathy

Skeletal Feet:
pes cavus

Clinical features from OMIM:

605229

Drugs & Therapeutics for Spastic Paraplegia 14, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 14, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 14, Autosomal Recessive

Anatomical Context for Spastic Paraplegia 14, Autosomal Recessive

Publications for Spastic Paraplegia 14, Autosomal Recessive

Articles related to Spastic Paraplegia 14, Autosomal Recessive:

# Title Authors PMID Year
1
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. 56 61
10877981 2000
2
Hereditary Spastic Paraplegia Overview 6
20301682 2000
3
Microarray analysis unmasked two siblings with pure hereditary spastic paraplegia shared a run of homozygosity region on chromosome 3q28-q29. 61
26671141 2015
4
Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28. 61
14527723 2003
5
Expression of recombinant human glutamic acid decarboxylase (GAD) in myeloma cells and enzyme-linked immunosorbent assay (ELISA) for autoantibodies to GAD. 61
9058186 1997

Variations for Spastic Paraplegia 14, Autosomal Recessive

Expression for Spastic Paraplegia 14, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 14, Autosomal Recessive.

Pathways for Spastic Paraplegia 14, Autosomal Recessive

GO Terms for Spastic Paraplegia 14, Autosomal Recessive

Biological processes related to Spastic Paraplegia 14, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell differentiation GO:0045596 8.62 PRAMEF8 PRAMEF12

Sources for Spastic Paraplegia 14, 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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