SPG38
MCID: SPS100
MIFTS: 26

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, 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 58 13 74
Spg38 58 12 60
Autosomal Dominant Spastic Paraplegia Type 38 12 60
Hereditary Spastic Paraplegia 38 12 15
Autosomal Dominant Spastic Paraplegia 38 12

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant spastic paraplegia type 38
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
spastic paraplegia 38, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110789
OMIM 58 612335
ICD10 34 G11.4
ICD10 via Orphanet 35 G11.4
UMLS via Orphanet 75 C2676732
Orphanet 60 ORPHA171617
MedGen 43 C2676732
UMLS 74 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 perrault syndrome 1 and spastic paraplegia 10. An important gene associated with Spastic Paraplegia 38, Autosomal Dominant is SPG38 (Spastic Paraplegia 38 (Autosomal Dominant, Silver Syndrome)). Affiliated tissues include spinal cord, and related phenotypes are hyperreflexia and babinski sign

Description from OMIM: 612335

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

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1
2 spastic paraplegia 10 11.1

Symptoms & Phenotypes for Spastic Paraplegia 38, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 38, Autosomal Dominant:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
2 babinski sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0003487
3 degeneration of the lateral corticospinal tracts 60 33 hallmark (90%) Very frequent (99-80%) HP:0002314
4 progressive spastic paraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007020
5 spastic gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0002064
6 progressive pes cavus 60 33 hallmark (90%) Very frequent (99-80%) HP:0008075
7 thenar muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003393
8 emg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0003457
9 spinal cord lesion 60 33 frequent (33%) Frequent (79-30%) HP:0100561
10 first dorsal interossei muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003392
11 first dorsal interossei muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003426
12 thenar muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003427
13 amyotrophy of ankle musculature 60 33 frequent (33%) Frequent (79-30%) HP:0009031
14 distal lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009053
15 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
16 foot dorsiflexor weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0009027
17 impaired vibration sensation in the lower limbs 60 33 occasional (7.5%) Occasional (29-5%) HP:0002166
18 frontotemporal cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0006892
19 seizures 60 Excluded (0%)
20 pes cavus 33 HP:0001761
21 dementia 60 Excluded (0%)
22 spastic paraplegia 33 HP:0001258
23 lower limb muscle weakness 33 HP:0007340
24 lower limb spasticity 60 Very frequent (99-80%)
25 abnormality of the cerebrospinal fluid 60 Excluded (0%)
26 abnormal lower-limb motor evoked potentials 60 Excluded (0%)
27 urinary incontinence 60 Excluded (0%)
28 peroneal muscle atrophy 60 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Spinal Cord

Publications for Spastic Paraplegia 38, Autosomal Dominant

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

Sources for Spastic Paraplegia 38, Autosomal Dominant

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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