MCID: SPS105
MIFTS: 27

Spastic Paraplegia 37, Autosomal Dominant

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic 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 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, and related phenotypes are urinary urgency and urinary incontinence

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
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 37, 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 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 incontinence
urinary urgency


Clinical features from OMIM:

611945

Human phenotypes related to Spastic Paraplegia 37, Autosomal Dominant:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 urinary urgency 32 occasional (7.5%) HP:0000012
2 urinary incontinence 32 HP:0000020
3 spastic paraplegia 32 HP:0001258
4 lower limb spasticity 32 HP:0002061
5 spastic gait 32 occasional (7.5%) HP:0002064
6 impaired vibration sensation in the lower limbs 32 occasional (7.5%) HP:0002166
7 lower limb hyperreflexia 32 HP:0002395
8 babinski sign 32 occasional (7.5%) HP:0003487
9 upper limb spasticity 32 occasional (7.5%) HP:0006986
10 hyperreflexia in upper limbs 32 occasional (7.5%) HP:0007350
11 ankle clonus 32 occasional (7.5%) HP:0011448
12 clonus 32 occasional (7.5%) HP:0002169
13 degeneration of the lateral corticospinal tracts 32 hallmark (90%) HP:0002314
14 difficulty walking 32 occasional (7.5%) HP:0002355
15 muscle cramps 32 occasional (7.5%) HP:0003394
16 progressive spastic paraplegia 32 hallmark (90%) HP:0007020
17 lower limb muscle weakness 32 frequent (33%) HP:0007340
18 progressive pes cavus 32 occasional (7.5%) HP:0008075
19 fatigue 32 occasional (7.5%) HP:0012378
20 spinal cord lesion 32 frequent (33%) HP:0100561

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
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 dendrite GO:0030425 8.96 KIF13B NRG1
2 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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