SPG37
MCID: SPS105
MIFTS: 29

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 58 74
Spg37 58 12 60
Autosomal Dominant Spastic Paraplegia Type 37 12 60
Hereditary Spastic Paraplegia 37 12 15
Autosomal Dominant Spastic Paraplegia 37 12

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant spastic paraplegia type 37
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
spastic paraplegia 37, autosomal dominant:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110788
OMIM 58 611945
ICD10 34 G11.4
ICD10 via Orphanet 35 G11.4
UMLS via Orphanet 75 C2936880
Orphanet 60 ORPHA171612
MedGen 43 C2936880
UMLS 74 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 cone-rod dystrophy and hearing loss 2 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 spinal cord, skin and bone, and related phenotypes are degeneration of the lateral corticospinal tracts and progressive spastic paraplegia

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, 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 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia 23
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 37, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.1
2 spastic paraplegia 10 11.1

Symptoms & Phenotypes for Spastic Paraplegia 37, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 37, Autosomal Dominant:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 degeneration of the lateral corticospinal tracts 60 33 hallmark (90%) Very frequent (99-80%) HP:0002314
2 progressive spastic paraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007020
3 babinski sign 60 33 occasional (7.5%) Frequent (79-30%) HP:0003487
4 lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0007340
5 impaired vibration sensation in the lower limbs 60 33 occasional (7.5%) Frequent (79-30%) HP:0002166
6 spinal cord lesion 60 33 frequent (33%) Frequent (79-30%) HP:0100561
7 clonus 60 33 occasional (7.5%) Occasional (29-5%) HP:0002169
8 fatigue 60 33 occasional (7.5%) Occasional (29-5%) HP:0012378
9 difficulty walking 60 33 occasional (7.5%) Occasional (29-5%) HP:0002355
10 urinary urgency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000012
11 spastic gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002064
12 hyperreflexia in upper limbs 60 33 occasional (7.5%) Occasional (29-5%) HP:0007350
13 progressive pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0008075
14 ankle clonus 33 occasional (7.5%) HP:0011448
15 upper limb spasticity 33 occasional (7.5%) HP:0006986
16 muscle spasm 33 occasional (7.5%) HP:0003394
17 lower limb spasticity 60 33 Frequent (79-30%) HP:0002061
18 seizures 60 Excluded (0%)
19 hyperreflexia 60 Frequent (79-30%)
20 emg abnormality 60 Excluded (0%)
21 muscle cramps 60 Occasional (29-5%)
22 spastic paraplegia 33 HP:0001258
23 abnormality of the cerebrospinal fluid 60 Excluded (0%)
24 abnormal lower-limb motor evoked potentials 60 Excluded (0%)
25 urinary incontinence 33 HP:0000020
26 lower limb hyperreflexia 33 HP:0002395

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Spinal Cord, Skin, Bone, Eye

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 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
Content
Loading form....