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, Muscle 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 57 13 70
Spg14 57 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®:

57 (Updated 05-Apr-2021)
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® 57 605229
OMIM Phenotypic Series 57 PS303350
ICD10 32 G11.4
MESH via Orphanet 45 C537486
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 71 C1854568
Orphanet 58 ORPHA100995
MedGen 41 C1854568
UMLS 70 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 paraplegia and spastic paraplegia 14. An important gene associated with Spastic Paraplegia 14, Autosomal Recessive is SPG14 (Spastic Paraplegia 14 (Autosomal Recessive)). Related phenotypes are hyperreflexia and intellectual disability, mild

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
Spastic Paraplegia 83, 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 70)
# Related Disease Score Top Affiliating Genes
1 paraplegia 28.3 SPG7 SPG21 SPG11 SPAST SLC33A1 ATL1
2 spastic paraplegia 14 11.4
3 spastic paraplegia 5a 10.3 SPG14 ALDH18A1
4 neuropathy, hereditary sensory, type iic 10.2 SPG21 SPG11
5 spastic paraplegia 64, autosomal recessive 10.1 SPG21 SPG11
6 spastic paraplegia 52, autosomal recessive 10.1 SPG21 SPG11
7 complex hereditary spastic paraplegia 10.1 SPG7 SPG11
8 spastic paraplegia 53, autosomal recessive 10.1 SLC33A1 ATL1
9 spastic paraplegia 73, autosomal dominant 10.1 SPG21 ATL1
10 spastic paraplegia 28, autosomal recessive 10.0 SPG7 SPG11
11 spastic paraplegia 45, autosomal recessive 10.0 SPG21 SPG11
12 spastic paraplegia 7, autosomal recessive 10.0 SPG7 SPG11
13 hereditary spastic paraplegia 23 10.0 SPG21 SPG11 SLC33A1
14 spastic paraplegia 44, autosomal recessive 10.0 SPG21 SPG11 SLC33A1
15 mast syndrome 10.0 SPG21 SPG11
16 hereditary spastic paraplegia 51 9.9 SPG7 SPG21 SPG11
17 spastic paraplegia 50, autosomal recessive 9.9 SPG7 SPG21 SPG11
18 spastic paraplegia 63, autosomal recessive 9.9 SPG7 SPG21 SPG11
19 neuropathy 9.9
20 spasticity 9.9
21 spastic paraplegia 49, autosomal recessive 9.9 SPG7 SPG21 SPG11
22 spastic paraplegia 18, autosomal recessive 9.9 SPG7 SPG21 SPG11
23 spastic paraplegia 55, autosomal recessive 9.9 SPG7 SPG21 SPG11
24 spastic paraplegia 54, autosomal recessive 9.9 SPG7 SPG21 SPG11
25 pure hereditary spastic paraplegia 9.9 SPAST ATL1
26 spastic paraplegia 35, autosomal recessive 9.9 SPG7 SPG21 SPG11
27 spastic paraplegia 41, autosomal dominant 9.9 SPG21 SPAST
28 neuropathy, hereditary sensory, type id 9.8 SPAST ATL1
29 spastic paraplegia 32, autosomal recessive 9.7 SPG7 SPG21 SPG11 SLC33A1
30 spastic paraplegia 61, autosomal recessive 9.6 SPG21 SPG11 SPAST ATL1
31 cerebellar disease 9.6 SPG7 PLEKHG4 ATXN8OS
32 spastic paraplegia 12, autosomal dominant 9.6 SPG21 SPG11 SPAST ATL1
33 dentatorubral-pallidoluysian atrophy 9.6 SPG7 PLEKHG4 ATXN8OS
34 spastic paraplegia 43, autosomal recessive 9.6 SPG11 SPAST SLC33A1 ATL1
35 spastic paraplegia 5a, autosomal recessive 9.5 SPG7 SPG11 SPAST ALDH18A1
36 spastic paraplegia 26, autosomal recessive 9.5 SPG21 SPG11 SPAST SLC33A1
37 hereditary spastic paraplegia 72 9.5 SPG7 SPG11 SPAST ATL1
38 spastic paraplegia 25, autosomal recessive 9.5 SPG21 SLC33A1 PLEKHG4 ATXN8OS
39 spastic paraplegia 37, autosomal dominant 9.5 SPG21 SLC33A1 PLEKHG4 ATXN8OS
40 spastic paraparesis 9.5 SPG7 SPG11 SPAST ALDH18A1
41 spastic paraplegia 34, x-linked 9.5 SPG21 SLC33A1 PLEKHG4 ATXN8OS
42 spastic paraplegia 3, autosomal dominant 9.5 SPG7 SPG11 SPAST ATL1
43 spastic paraplegia 11, autosomal recessive 9.5 SPG7 SPG21 SPG11 SPAST
44 spastic paraplegia 46, autosomal recessive 9.5 SPG7 SPG21 SPG11 SPAST
45 spastic paraplegia 47, autosomal recessive 9.5 SPG7 SPG21 SPG11 SPAST
46 hereditary ataxia 9.5 SPG7 PLEKHG4 ATXN8OS
47 spastic paraplegia 56, autosomal recessive 9.5 SPG7 SPG21 SPG11 SPAST
48 spastic paraplegia 20, autosomal recessive 9.5 SPG7 SPG21 SPAST ATL1
49 spastic paraplegia 33, autosomal dominant 9.5 SPG21 SPG11 SPAST ATL1 ALDH18A1
50 charcot-marie-tooth disease, axonal, type 2e 9.4 SPG7 SPG21 SPG11 SPAST

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 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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. 61 57
10877981 2000
2
Microarray analysis unmasked two siblings with pure hereditary spastic paraplegia shared a run of homozygosity region on chromosome 3q28-q29. 61
26671141 2015
3
Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28. 61
14527723 2003
4
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

Cellular components related to Spastic Paraplegia 14, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum tubular network GO:0071782 8.62 SPAST ATL1

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

# Name GO ID Score Top Affiliating Genes
1 anterograde axonal transport GO:0008089 8.62 SPG7 SPAST

Sources for Spastic Paraplegia 14, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....