MCID: SPS068
MIFTS: 29

Spastic Paraplegia 14, Autosomal Recessive

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic 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 73
Spg14 57 12 59
Autosomal Recessive Spastic Paraplegia Type 14 12 59
Hereditary Spastic Paraplegia 14 12 15
Autosomal Recessive Spastic Paraplegia 14 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 14
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spastic paraplegia 14, autosomal recessive:
Onset and clinical course adult onset progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 605229
Disease Ontology 12 DOID:0110767
ICD10 33 G11.4
Orphanet 59 ORPHA100995
MESH via Orphanet 45 C537486
UMLS via Orphanet 74 C1854568
ICD10 via Orphanet 34 G11.4
MedGen 42 C1854568
UMLS 73 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 14 and deafness, autosomal dominant 44. An important gene associated with Spastic Paraplegia 14, Autosomal Recessive is SPG14 (Spastic Paraplegia 14 (Autosomal Recessive)), and among its related pathways/superpathways is Neuroscience. Related phenotypes are hyperreflexia and intellectual disability, mild

Description from OMIM: 605229

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 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 14, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 14 11.2
2 deafness, autosomal dominant 44 9.1 CCDC50 SNCA
3 chromosome 3q29 deletion syndrome 8.9 CCDC50 SNCA

Symptoms & Phenotypes for Spastic Paraplegia 14, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 14, Autosomal Recessive:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
2 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
3 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
4 pes cavus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001761
5 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
6 lower limb hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006895
7 motor axonal neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007002
8 spastic paraplegia 32 HP:0001258
9 lower limb spasticity 32 HP:0002061
10 lower limb muscle weakness 32 HP:0007340

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

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

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

# Super pathways Score Top Affiliating Genes
1 11.16 GAD2 SNCA

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 axon GO:0030424 8.62 GAD2 SNCA

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

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 8.96 GAD2 SNCA
2 chemical synaptic transmission GO:0007268 8.62 GAD2 SNCA

Sources for Spastic Paraplegia 14, 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
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