MCID: ATS412
MIFTS: 17

Autosomal Dominant Spastic Paraplegia Type 9b

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 Autosomal Dominant Spastic Paraplegia Type 9b

MalaCards integrated aliases for Autosomal Dominant Spastic Paraplegia Type 9b:

Name: Autosomal Dominant Spastic Paraplegia Type 9b 60
Ad-Spg9b 60

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant spastic paraplegia type 9b
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Infancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 G11.4
Orphanet 60 ORPHA447757

Summaries for Autosomal Dominant Spastic Paraplegia Type 9b

MalaCards based summary : Autosomal Dominant Spastic Paraplegia Type 9b, is also known as ad-spg9b. An important gene associated with Autosomal Dominant Spastic Paraplegia Type 9b is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1). Affiliated tissues include spinal cord, and related phenotypes are muscular hypotonia and gastroesophageal reflux

Related Diseases for Autosomal Dominant Spastic Paraplegia Type 9b

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

Symptoms & Phenotypes for Autosomal Dominant Spastic Paraplegia Type 9b

Human phenotypes related to Autosomal Dominant Spastic Paraplegia Type 9b:

60 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 Occasional (29-5%)
2 gastroesophageal reflux 60 Occasional (29-5%)
3 babinski sign 60 Frequent (79-30%)
4 elbow flexion contracture 60 Occasional (29-5%)
5 dementia 60 Occasional (29-5%)
6 postural tremor 60 Frequent (79-30%)
7 progressive gait ataxia 60 Frequent (79-30%)
8 spastic gait 60 Frequent (79-30%)
9 hyperreflexia in upper limbs 60 Frequent (79-30%)
10 progressive pes cavus 60 Frequent (79-30%)
11 peripheral axonal neuropathy 60 Occasional (29-5%)
12 absent achilles reflex 60 Occasional (29-5%)
13 hyperactive patellar reflex 60 Frequent (79-30%)
14 focal dystonia 60 Occasional (29-5%)
15 spastic dysarthria 60 Frequent (79-30%)
16 congenital cataract 60 Occasional (29-5%)
17 atrophy of the spinal cord 60 Occasional (29-5%)
18 motor polyneuropathy 60 Frequent (79-30%)
19 progressive neurologic deterioration 60 Frequent (79-30%)
20 upper motor neuron dysfunction 60 Frequent (79-30%)
21 progressive inability to walk 60 Frequent (79-30%)

Drugs & Therapeutics for Autosomal Dominant Spastic Paraplegia Type 9b

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Spastic Paraplegia Type 9b

Genetic Tests for Autosomal Dominant Spastic Paraplegia Type 9b

Anatomical Context for Autosomal Dominant Spastic Paraplegia Type 9b

MalaCards organs/tissues related to Autosomal Dominant Spastic Paraplegia Type 9b:

42
Spinal Cord

Publications for Autosomal Dominant Spastic Paraplegia Type 9b

Variations for Autosomal Dominant Spastic Paraplegia Type 9b

Expression for Autosomal Dominant Spastic Paraplegia Type 9b

Search GEO for disease gene expression data for Autosomal Dominant Spastic Paraplegia Type 9b.

Pathways for Autosomal Dominant Spastic Paraplegia Type 9b

GO Terms for Autosomal Dominant Spastic Paraplegia Type 9b

Sources for Autosomal Dominant Spastic Paraplegia Type 9b

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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