SPG38
MCID: SPS100
MIFTS: 38

Spastic Paraplegia 38, Autosomal Dominant (SPG38)

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 38, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 38, Autosomal Dominant:

Name: Spastic Paraplegia 38, Autosomal Dominant 56 13 71
Spg38 56 12 58
Autosomal Dominant Spastic Paraplegia Type 38 12 58
Hereditary Spastic Paraplegia 38 12 15
Autosomal Dominant Spastic Paraplegia 38 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 38
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset 16 to 19 years
relatively slow progression


HPO:

31
spastic paraplegia 38, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110789
OMIM 56 612335
OMIM Phenotypic Series 56 PS303350
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C2676732
Orphanet 58 ORPHA171617
MedGen 41 C2676732
UMLS 71 C2676732

Summaries for Spastic Paraplegia 38, Autosomal Dominant

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.

MalaCards based summary : Spastic Paraplegia 38, Autosomal Dominant, also known as spg38, is related to hereditary spastic paraplegia and spastic paraplegia 10. An important gene associated with Spastic Paraplegia 38, Autosomal Dominant is SPG38 (Spastic Paraplegia 38 (Autosomal Dominant, Silver Syndrome)), and among its related pathways/superpathways are Glucose / Energy Metabolism and Carbon metabolism. Affiliated tissues include spinal cord, and related phenotypes are hyperreflexia and babinski sign

More information from OMIM: 612335 PS303350

Related Diseases for Spastic Paraplegia 38, Autosomal Dominant

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 38, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 11.2
2 spastic paraplegia 10 11.2
3 cardiomyopathy, familial hypertrophic, 9 10.2 FTL FTH1
4 acute porphyria 10.2 IREB2 FECH ACO1
5 anemia, sideroblastic, and spinocerebellar ataxia 10.2 FECH ACO1
6 hemochromatosis, type 5 10.1 FTL FTH1 ACO1
7 neural crest tumor 10.0 SDHB SDHA
8 gastric leiomyosarcoma 10.0 SDHB SDHA
9 pheochromocytoma-paraganglioma 10.0 SDHB SDHA
10 cerebellar angioblastoma 10.0 SDHB SDHA
11 extra-adrenal pheochromocytoma 10.0 SDHB SDHA
12 neurodegeneration with brain iron accumulation 3 10.0 IREB2 FTL FTH1 ACO1
13 carney triad 10.0 SDHB SDHA
14 esophagus leiomyoma 10.0 SDHB SDHA
15 syringomyelia 10.0 PES1 GFAP
16 adrenal medulla cancer 9.9 SDHB SDHA
17 hereditary renal cell carcinoma 9.9 SDHB SDHA
18 chondroma 9.9 SDHB SDHA
19 autonomic nervous system benign neoplasm 9.9 SDHB SDHA
20 peripheral nervous system benign neoplasm 9.9 SDHB SDHA
21 mitochondrial complex ii deficiency 9.8 SDHB SDHA HTT
22 neuropathy, hereditary sensory and autonomic, type viii 9.8 SOD1 FTL FTH1
23 hypochromic microcytic anemia 9.8 TFRC IREB2 ACO1
24 microcytic anemia 9.8 TFRC IREB2 ACO1
25 hemochromatosis, type 3 9.8 TFRC FTH1
26 chronic wasting disease 9.8 SOD1 GFAP
27 persistent generalized lymphadenopathy 9.7 SDHB SDHA
28 toxic encephalopathy 9.7 SOD1 HTT GFAP
29 dementia, lewy body 9.7 SOD1 HTT GFAP
30 pick disease of brain 9.7 SOD1 HTT GFAP
31 protoporphyria, erythropoietic, 1 9.6 TFRC IREB2 FECH ACO1
32 anemia, sideroblastic, 1 9.6 TFRC IREB2 FECH ACO1
33 iron metabolism disease 9.6 TFRC IREB2 FTL ACO1
34 paraganglioma 9.6 SDHB SDHA GFAP
35 hemosiderosis 9.6 TFRC IREB2 FTL ACO1
36 sideroblastic anemia 9.6 TFRC IREB2 FECH ACO1
37 metal metabolism disorder 9.6 TFRC IREB2 FTL ACO1
38 kearns-sayre syndrome 9.6 SDHB SDHA PES1 CS
39 beta-thalassemia 9.6 TFRC IREB2 ACO1
40 restless legs syndrome 9.6 TFRC IREB2 FTL ACO1
41 hyperferritinemia with or without cataract 9.4 TFRC IREB2 FTL FTH1 ACO1
42 neurodegeneration with brain iron accumulation 9.4 TFRC IREB2 FTL FTH1 ACO1
43 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.3 SDHB SDHA HTT
44 brain edema 9.3 TFRC SOD1 GFAP
45 friedreich ataxia 9.2 TFRC SOD1 IREB2 FECH ACO1
46 deficiency anemia 9.1 TFRC SOD1 IREB2 FTL ACO1
47 prion disease 9.1 TFRC SOD1 HTT GFAP
48 aplastic anemia 8.9 TFRC SDHB FTL FTH1
49 hemochromatosis, type 1 8.7 TFRC SOD1 IREB2 FTL FTH1 FECH
50 amyotrophic lateral sclerosis 1 8.7 TFRC SOD1 HTT GFAP CS ACO1

Graphical network of the top 20 diseases related to Spastic Paraplegia 38, Autosomal Dominant:



Diseases related to Spastic Paraplegia 38, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 38, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 38, Autosomal Dominant:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
3 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
4 spastic gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002064
5 thenar muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003393
6 degeneration of the lateral corticospinal tracts 58 31 hallmark (90%) Very frequent (99-80%) HP:0002314
7 progressive pes cavus 58 31 hallmark (90%) Very frequent (99-80%) HP:0008075
8 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
9 distal lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009053
10 spinal cord lesion 58 31 frequent (33%) Frequent (79-30%) HP:0100561
11 first dorsal interossei muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003392
12 first dorsal interossei muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003426
13 thenar muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003427
14 amyotrophy of ankle musculature 58 31 frequent (33%) Frequent (79-30%) HP:0009031
15 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
16 foot dorsiflexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009027
17 impaired vibration sensation in the lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002166
18 frontotemporal cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006892
19 seizures 58 Excluded (0%)
20 pes cavus 31 HP:0001761
21 spastic paraplegia 31 HP:0001258
22 dementia 58 Excluded (0%)
23 lower limb spasticity 58 Very frequent (99-80%)
24 urinary incontinence 58 Excluded (0%)
25 lower limb muscle weakness 31 HP:0007340
26 abnormality of the cerebrospinal fluid 58 Excluded (0%)
27 peroneal muscle atrophy 58 Excluded (0%)
28 abnormal lower-limb motor evoked potentials 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
spastic gait
thenar muscle atrophy
first dorsal interossei muscle weakness
more
Skeletal Feet:
pes cavus

Clinical features from OMIM:

612335

GenomeRNAi Phenotypes related to Spastic Paraplegia 38, Autosomal Dominant according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.6 PLA2G2A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.6 ABR
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.6 HTT
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.6 ABR HTT
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.6 HTT
6 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.6 FECH HTT
7 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.6 ABR FECH
8 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.6 ABR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-187 9.6 FECH
10 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.6 ABR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.6 PLA2G2A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.6 HTT
13 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.6 ABR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-61 9.6 PLA2G2A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.6 HTT
16 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.6 PLA2G2A

MGI Mouse Phenotypes related to Spastic Paraplegia 38, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ACO1 CS FBXL5 FECH FTH1 FTL
2 mortality/aging MP:0010768 9.53 ABR ACO1 CS FBXL5 FECH FTH1
3 liver/biliary system MP:0005370 9.5 FBXL5 FECH FTH1 FTL IREB2 SOD1

Drugs & Therapeutics for Spastic Paraplegia 38, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 38, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 38, Autosomal Dominant

Anatomical Context for Spastic Paraplegia 38, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 38, Autosomal Dominant:

40
Spinal Cord

Publications for Spastic Paraplegia 38, Autosomal Dominant

Articles related to Spastic Paraplegia 38, Autosomal Dominant:

# Title Authors PMID Year
1
Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. 61 56
18401025 2008
2
Hereditary Spastic Paraplegia Overview 6
20301682 2000
3
Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generations. 61
21712667 2011

Variations for Spastic Paraplegia 38, Autosomal Dominant

Expression for Spastic Paraplegia 38, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 38, Autosomal Dominant.

Pathways for Spastic Paraplegia 38, Autosomal Dominant

GO Terms for Spastic Paraplegia 38, Autosomal Dominant

Cellular components related to Spastic Paraplegia 38, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.87 SOD1 SDHB SDHA IREB2 FECH CS
2 autolysosome GO:0044754 9.26 FTL FTH1
3 cell GO:0005623 9.23 TFRC SOD1 IREB2 HTT FTL FTH1
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.16 SDHB SDHA
5 intracellular ferritin complex GO:0008043 8.96 FTL FTH1

Biological processes related to Spastic Paraplegia 38, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion homeostasis GO:0055072 9.5 IREB2 FTL FBXL5
2 respiratory electron transport chain GO:0022904 9.46 SDHB SDHA
3 iron ion transport GO:0006826 9.46 TFRC IREB2 FTL FTH1
4 intestinal absorption GO:0050892 9.43 IREB2 ACO1
5 citrate metabolic process GO:0006101 9.43 IREB2 CS ACO1
6 succinate metabolic process GO:0006105 9.4 SDHB SDHA
7 intracellular sequestering of iron ion GO:0006880 9.37 FTL FTH1
8 tricarboxylic acid cycle GO:0006099 9.35 SDHB SDHA IREB2 CS ACO1
9 cellular iron ion homeostasis GO:0006879 9.17 TFRC SOD1 IREB2 FTL FTH1 FBXL5

Molecular functions related to Spastic Paraplegia 38, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.65 FTL FTH1 FBXL5
2 4 iron, 4 sulfur cluster binding GO:0051539 9.58 SDHB IREB2 ACO1
3 2 iron, 2 sulfur cluster binding GO:0051537 9.46 SDHB FECH
4 ferric iron binding GO:0008199 9.43 FTL FTH1
5 3 iron, 4 sulfur cluster binding GO:0051538 9.37 SDHB ACO1
6 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.32 SDHB SDHA
7 aconitate hydratase activity GO:0003994 9.26 IREB2 ACO1
8 iron-responsive element binding GO:0030350 9.16 IREB2 ACO1
9 ferrous iron binding GO:0008198 9.13 FTL FTH1 FECH
10 iron-sulfur cluster binding GO:0051536 8.92 SDHB IREB2 FECH ACO1

Sources for Spastic Paraplegia 38, Autosomal Dominant

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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