SPG37
MCID: SPS105
MIFTS: 30

Spastic Paraplegia 37, Autosomal Dominant (SPG37)

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 37, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 37, Autosomal Dominant:

Name: Spastic Paraplegia 37, Autosomal Dominant 57 13 73
Spg37 57 12 59
Autosomal Dominant Spastic Paraplegia Type 37 12 59
Hereditary Spastic Paraplegia 37 12 15
Autosomal Dominant Spastic Paraplegia 37 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 37
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
patients remain ambulatory
variable age at onset (range 8 to 60 years, mean 32)


HPO:

32
spastic paraplegia 37, autosomal dominant:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 611945
Disease Ontology 12 DOID:0110788
ICD10 33 G11.4
Orphanet 59 ORPHA171612
UMLS via Orphanet 74 C2936880
ICD10 via Orphanet 34 G11.4
MedGen 42 C2936880
UMLS 73 C2936880

Summaries for Spastic Paraplegia 37, Autosomal Dominant

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 8p21.1-q13.3.

MalaCards based summary : Spastic Paraplegia 37, Autosomal Dominant, also known as spg37, is related to perrault syndrome 1 and spastic paraplegia 10, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 37, Autosomal Dominant is SPG37 (Spastic Paraplegia 37 (Autosomal Dominant)). Affiliated tissues include skin, bone and eye, and related phenotypes are clonus and fatigue

Description from OMIM: 611945

Related Diseases for Spastic Paraplegia 37, 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
Spastic Paraplegia Type 49 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 Autosomal Dominant Spastic Paraplegia Type 9b
Autosomal Dominant Spastic Paraplegia Type 9

Diseases related to Spastic Paraplegia 37, 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 37, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
lower limb spasticity
ankle clonus
spastic gait
lower limb hyperreflexia
extensor plantar responses
more
Neurologic Peripheral Nervous System:
decreased vibration sense in the lower limbs

Genitourinary Bladder:
urinary urgency
urinary incontinence


Clinical features from OMIM:

611945

Human phenotypes related to Spastic Paraplegia 37, Autosomal Dominant:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 clonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002169
2 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
3 babinski sign 59 32 occasional (7.5%) Frequent (79-30%) HP:0003487
4 muscle cramps 59 32 occasional (7.5%) Occasional (29-5%) HP:0003394
5 difficulty walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0002355
6 lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0007340
7 lower limb spasticity 59 32 Frequent (79-30%) HP:0002061
8 impaired vibration sensation in the lower limbs 59 32 occasional (7.5%) Frequent (79-30%) HP:0002166
9 degeneration of the lateral corticospinal tracts 59 32 hallmark (90%) Very frequent (99-80%) HP:0002314
10 progressive spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007020
11 spinal cord lesion 59 32 frequent (33%) Frequent (79-30%) HP:0100561
12 urinary urgency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000012
13 spastic gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002064
14 hyperreflexia in upper limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0007350
15 progressive pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0008075
16 seizures 59 Excluded (0%)
17 hyperreflexia 59 Frequent (79-30%)
18 emg abnormality 59 Excluded (0%)
19 spastic paraplegia 32 HP:0001258
20 ankle clonus 32 occasional (7.5%) HP:0011448
21 abnormality of the cerebrospinal fluid 59 Excluded (0%)
22 abnormal lower-limb motor evoked potentials 59 Excluded (0%)
23 urinary incontinence 32 HP:0000020
24 lower limb hyperreflexia 32 HP:0002395
25 upper limb spasticity 32 occasional (7.5%) HP:0006986

UMLS symptoms related to Spastic Paraplegia 37, Autosomal Dominant:


urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 37, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 37, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 37, Autosomal Dominant

Anatomical Context for Spastic Paraplegia 37, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 37, Autosomal Dominant:

41
Skin, Bone, Eye, Spinal Cord

Publications for Spastic Paraplegia 37, Autosomal Dominant

Variations for Spastic Paraplegia 37, Autosomal Dominant

Expression for Spastic Paraplegia 37, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 37, Autosomal Dominant.

Pathways for Spastic Paraplegia 37, Autosomal Dominant

GO Terms for Spastic Paraplegia 37, Autosomal Dominant

Cellular components related to Spastic Paraplegia 37, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 8.62 KIF13B NRG1

Sources for Spastic Paraplegia 37, 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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