MCID: SPS100
MIFTS: 26

Spastic Paraplegia 38, Autosomal Dominant

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 38, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 38, Autosomal Dominant:

Name: Spastic Paraplegia 38, Autosomal Dominant 57 13 73
Spg38 57 12 59
Autosomal Dominant Spastic Paraplegia Type 38 12 59
Hereditary Spastic Paraplegia 38 12 15
Autosomal Dominant Spastic Paraplegia 38 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 38
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spastic paraplegia 38, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 612335
Disease Ontology 12 DOID:0110789
ICD10 33 G11.4
Orphanet 59 ORPHA171617
UMLS via Orphanet 74 C2676732
ICD10 via Orphanet 34 G11.4
MedGen 42 C2676732
UMLS 73 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 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 cognitive impairment

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

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 10 10.9

Symptoms & Phenotypes for Spastic Paraplegia 38, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 38, Autosomal Dominant:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
2 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
3 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
4 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
5 impaired vibration sensation in the lower limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0002166
6 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
7 degeneration of the lateral corticospinal tracts 59 32 hallmark (90%) Very frequent (99-80%) HP:0002314
8 thenar muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003393
9 progressive spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007020
10 progressive pes cavus 59 32 hallmark (90%) Very frequent (99-80%) HP:0008075
11 first dorsal interossei muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003392
12 first dorsal interossei muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003426
13 thenar muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003427
14 amyotrophy of ankle musculature 59 32 frequent (33%) Frequent (79-30%) HP:0009031
15 distal lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009053
16 spinal cord lesion 59 32 frequent (33%) Frequent (79-30%) HP:0100561
17 frontotemporal cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0006892
18 foot dorsiflexor weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0009027
19 seizures 59 Excluded (0%)
20 pes cavus 32 HP:0001761
21 dementia 59 Excluded (0%)
22 spastic paraplegia 32 HP:0001258
23 lower limb spasticity 59 Very frequent (99-80%)
24 urinary incontinence 59 Excluded (0%)
25 abnormality of the cerebrospinal fluid 59 Excluded (0%)
26 peroneal muscle atrophy 59 Excluded (0%)
27 abnormal lower-limb motor evoked potentials 59 Excluded (0%)
28 lower limb muscle weakness 32 HP:0007340

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:

41
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 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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