ALS9
MCID: AMY085
MIFTS: 34

Amyotrophic Lateral Sclerosis 9 (ALS9)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Amyotrophic Lateral Sclerosis 9

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 9:

Name: Amyotrophic Lateral Sclerosis 9 56 12 52 73 13 71
Amyotrophic Lateral Sclerosis Type 9 12 52 29 6 15
Als9 56 12 52 73
Sclerosis, Lateral, Amyotrophic, Type Type 9 39

Characteristics:

HPO:

31
amyotrophic lateral sclerosis 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060200
OMIM 56 611895
OMIM Phenotypic Series 56 PS105400
MeSH 43 D000690
MedGen 41 C2678468
UMLS 71 C2678468

Summaries for Amyotrophic Lateral Sclerosis 9

UniProtKB/Swiss-Prot : 73 Amyotrophic lateral sclerosis 9: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

MalaCards based summary : Amyotrophic Lateral Sclerosis 9, also known as amyotrophic lateral sclerosis type 9, is related to amyotrophic lateral sclerosis 7 and amyotrophic lateral sclerosis 5, juvenile. An important gene associated with Amyotrophic Lateral Sclerosis 9 is ANG (Angiogenin). Affiliated tissues include brain, spinal cord and bone, and related phenotypes are spasticity and amyotrophic lateral sclerosis

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the ANG gene on chromosome 14.

More information from OMIM: 611895 PS105400

Related Diseases for Amyotrophic Lateral Sclerosis 9

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 3
Amyotrophic Lateral Sclerosis 7 Amyotrophic Lateral Sclerosis 8
Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 12 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis 24
Amyotrophic Lateral Sclerosis 25 Amyotrophic Lateral Sclerosis Type 5
Amyotrophic Lateral Sclerosis Type 6 Amyotrophic Lateral Sclerosis Type 14
Amyotrophic Lateral Sclerosis Type 15 Amyotrophic Lateral Sclerosis Type 22
Tardbp-Related Amyotrophic Lateral Sclerosis

Diseases related to Amyotrophic Lateral Sclerosis 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 7 30.6 SPG11 SETX ANG ALS2
2 amyotrophic lateral sclerosis 5, juvenile 10.3
3 spastic paraplegia 57, autosomal recessive 10.2 SPG11 ALS2
4 primary lateral sclerosis, adult, 1 10.2 SOD1 ALS2
5 steroid-induced glaucoma 10.0 OPTN CRYAA
6 pontocerebellar hypoplasia, type 2e 10.0 SOD1 ALS2
7 amyotrophic lateral sclerosis 20 10.0 SPG11 SIGMAR1 ALS2
8 phacogenic glaucoma 10.0 OPTN CRYAA
9 juvenile glaucoma 10.0 OPTN CRYAA
10 amyotrophic lateral sclerosis 2, juvenile 9.9 SOD1 ALS2
11 spinal and bulbar muscular atrophy, x-linked 1 9.9 SOD1 FUS CRYAA
12 spastic paraplegia 4, autosomal dominant 9.9 SPG11 ALS2
13 amyotrophic lateral sclerosis 19 9.9 UBQLN2 SOD1 ALS2
14 progressive bulbar palsy 9.8 VAPB SOD1 FUS ALS2
15 muscular atrophy 9.8 VAPB SIGMAR1 SETX FUS
16 autosomal dominant cerebellar ataxia 9.7 SOD1 SETX FUS CRYAA
17 hereditary spastic paraplegia 9.7 UBQLN2 SPG11 SETX ALS2
18 juvenile amyotrophic lateral sclerosis 9.6 SPG11 SIGMAR1 SETX FUS ALS2
19 progressive muscular atrophy 9.6 VAPB UBQLN2 SOD1 FUS
20 charcot-marie-tooth disease, axonal, type 2e 9.5 SPG11 SOD1 FIG4 ALS2
21 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.5 UBQLN2 SOD1 OPTN FUS
22 spinal muscular atrophy 9.4 VAPB SOD1 SIGMAR1 SETX FUS
23 amyotrophic lateral sclerosis 21 9.4 VAPB SPG11 SIGMAR1 SETX FUS ALS2
24 pick disease of brain 9.4 UBQLN2 SOD1 OPTN FUS
25 amyotrophic lateral sclerosis type 15 9.3 VAPB UBQLN2 SPG11 SIGMAR1 SETX ALS2
26 amyotrophic lateral sclerosis 3 9.3 ZNF470 GFM1 ECE1 ALS2
27 spastic paraplegia 64, autosomal recessive 9.2 UBQLN2 SPG11 SIGMAR1 SETX FUS ALS2
28 amyotrophic lateral sclerosis 16, juvenile 9.0 VAPB UBQLN2 SPG11 SIGMAR1 SETX FUS
29 spinocerebellar ataxia 2 9.0 VAPB UBQLN2 SPG11 SOD1 SETX FUS
30 motor neuron disease 9.0 VAPB SOD1 SIGMAR1 SETX OPTN FUS
31 charcot-marie-tooth disease 9.0 VAPB SPG11 SOD1 SETX FIG4 CRYAA
32 amyotrophic lateral sclerosis type 14 8.9 VAPB UBQLN2 SIGMAR1 SETX OPTN FUS
33 amyotrophic lateral sclerosis 17 8.8 VAPB UBQLN2 SPG11 SIGMAR1 SETX FIG4
34 amyotrophic lateral sclerosis 18 8.8 VAPB UBQLN2 SIGMAR1 SETX FUS FIG4
35 hemochromatosis, type 1 8.6 VAPB SPG11 SOD1 SETX OPTN FUS
36 amyotrophic lateral sclerosis type 5 8.5 ZNF470 VAPB SPG11 SOD1 SETX GFM1
37 amyotrophic lateral sclerosis 12 8.3 VAPB UBQLN2 SPG11 SETX OPTN FUS
38 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 8.2 VAPB UBQLN2 SPG11 SOD1 SIGMAR1 SETX
39 amyotrophic lateral sclerosis 11 8.2 VAPB UBQLN2 SPG11 SIGMAR1 SETX OPTN
40 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 7.9 VAPB UBQLN2 SPG11 SOD1 SIGMAR1 SETX
41 amyotrophic lateral sclerosis 4, juvenile 7.8 VAPB UBQLN2 SPG11 SOD1 SETX OPTN
42 lateral sclerosis 7.8 VAPB UBQLN2 SPG11 SOD1 SIGMAR1 SETX
43 amyotrophic lateral sclerosis 8 7.8 VAPB UBQLN2 SPG11 SOD1 SIGMAR1 SETX
44 amyotrophic lateral sclerosis type 6 7.1 ZNF470 VAPB UBQLN2 SPG11 SOD1 SIGMAR1
45 amyotrophic lateral sclerosis 1 6.3 ZNF470 VAPB UBQLN2 SPG11 SOD1 SIGMAR1

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 9:



Diseases related to Amyotrophic Lateral Sclerosis 9

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 9

Human phenotypes related to Amyotrophic Lateral Sclerosis 9:

31
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 amyotrophic lateral sclerosis 31 HP:0007354
3 distal amyotrophy 31 HP:0003693
4 distal muscle weakness 31 HP:0002460

Clinical features from OMIM:

611895

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 9

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 9

Genetic Tests for Amyotrophic Lateral Sclerosis 9

Genetic tests related to Amyotrophic Lateral Sclerosis 9:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 9 29 ANG

Anatomical Context for Amyotrophic Lateral Sclerosis 9

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 9:

40
Brain, Spinal Cord, Bone

Publications for Amyotrophic Lateral Sclerosis 9

Articles related to Amyotrophic Lateral Sclerosis 9:

(show all 12)
# Title Authors PMID Year
1
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. 56 6
20577002 2010
2
A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation. 56 6
19153377 2009
3
Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis. 56 6
18852347 2008
4
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis. 56 6
18087731 2008
5
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. 56 6
17886298 2007
6
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. 56 6
16501576 2006
7
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
8
A novel candidate region for ALS on chromosome 14q11.2. 56
15557516 2004
9
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. 56
12847526 2003
10
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
11
Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis. 56
10371543 1999
12
Acute neuromuscular respiratory failure: a population-based study of aetiology and outcome in Northern Ireland. 61
24534488 2014

Variations for Amyotrophic Lateral Sclerosis 9

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 9:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANG NM_002937.5(RNASE4):c.-17-5670A>GSNV Pathogenic 18075 rs121909537 14:21161844-21161844 14:20693685-20693685
2 ANG NM_002937.5(RNASE4):c.-17-5627G>ASNV Pathogenic 18076 rs121909538 14:21161887-21161887 14:20693728-20693728
3 ANG NM_002937.5(RNASE4):c.-17-5602C>GSNV Pathogenic 18077 rs121909539 14:21161912-21161912 14:20693753-20693753
4 ANG NM_002937.5(RNASE4):c.-17-5600A>TSNV Pathogenic 18078 rs121909540 14:21161914-21161914 14:20693755-20693755
5 ANG NM_002937.5(RNASE4):c.-17-5636G>ASNV Pathogenic 18080 rs121909542 14:21161878-21161878 14:20693719-20693719
6 ANG NM_002937.5(RNASE4):c.-17-5384C>TSNV Pathogenic 18081 rs121909543 14:21162130-21162130 14:20693971-20693971
7 ANG NM_002937.5(RNASE4):c.-17-5382G>ASNV Pathogenic 18082 rs121909544 14:21162132-21162132 14:20693973-20693973
8 ANG NM_002937.5(RNASE4):c.-17-5684A>TSNV Pathogenic 18073 rs121909535 14:21161830-21161830 14:20693671-20693671
9 ANG NM_002937.5(RNASE4):c.-17-5669A>TSNV Conflicting interpretations of pathogenicity 18074 rs121909536 14:21161845-21161845 14:20693686-20693686
10 ANG NM_002937.5(RNASE4):c.-17-5583A>GSNV Uncertain significance 18079 rs121909541 14:21161931-21161931 14:20693772-20693772
11 ANG NM_002937.5(RNASE4):c.-17-5541A>GSNV Benign/Likely benign 312774 rs17560 14:21161973-21161973 14:20693814-20693814

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 9:

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 ANG p.Phe12Ser VAR_044145
2 ANG p.Pro20Ser VAR_044146
3 ANG p.Gln36Leu VAR_044147 rs121909535
4 ANG p.Lys41Glu VAR_044148 rs121909537
5 ANG p.Lys41Ile VAR_044149 rs121909536
6 ANG p.Ser52Asn VAR_044150 rs121909542
7 ANG p.Arg55Lys VAR_044151 rs121909538
8 ANG p.Cys63Trp VAR_044152 rs121909539
9 ANG p.Lys64Ile VAR_044153 rs121909540
10 ANG p.Pro136Leu VAR_044155 rs121909543
11 ANG p.Val137Ile VAR_044156 rs121909544
12 ANG p.His138Arg VAR_044157
13 ANG p.Tyr38His VAR_073021 rs103242233
14 ANG p.Asp46Gly VAR_073022 rs144092779

Expression for Amyotrophic Lateral Sclerosis 9

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 9.

Pathways for Amyotrophic Lateral Sclerosis 9

GO Terms for Amyotrophic Lateral Sclerosis 9

Cellular components related to Amyotrophic Lateral Sclerosis 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.46 SOD1 FUS ANG ALS2
2 cytoplasmic vesicle GO:0031410 9.43 UBQLN2 SPG11 SOD1 SIGMAR1 OPTN ANG
3 growth cone GO:0030426 8.92 SIGMAR1 SETX ANG ALS2

Biological processes related to Amyotrophic Lateral Sclerosis 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell death GO:0008219 9.16 OPTN ALS2
2 ovarian follicle development GO:0001541 8.96 SOD1 ANG
3 locomotory behavior GO:0007626 8.8 SOD1 FIG4 ALS2

Molecular functions related to Amyotrophic Lateral Sclerosis 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.47 VAPB UBQLN2 SPG11 SOD1 SIGMAR1 SETX
2 protein homodimerization activity GO:0042803 9.35 VAPB SOD1 ECE1 ANG ALS2
3 polyubiquitin modification-dependent protein binding GO:0031593 9.16 UBQLN2 OPTN

Sources for Amyotrophic Lateral Sclerosis 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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