ALS9
MCID: AMY085
MIFTS: 37

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 57 12 53 74 13 72
Amyotrophic Lateral Sclerosis Type 9 12 53 29 6 15
Als9 57 12 53 74
Sclerosis, Lateral, Amyotrophic, Type Type 9 40

Characteristics:

HPO:

32
amyotrophic lateral sclerosis 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060200
MeSH 44 D000690
MedGen 42 C2678468
UMLS 72 C2678468

Summaries for Amyotrophic Lateral Sclerosis 9

UniProtKB/Swiss-Prot : 74 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 and spinal cord, 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

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 7 25.6 TARDBP SETX OPTN MPP5 FUS FOS
2 amyotrophic lateral sclerosis 5, juvenile 10.3
3 amyotrophic lateral sclerosis 4, juvenile 10.2 SETX DAO ALS2
4 brown-vialetto-van laere syndrome 10.1 TARDBP ALS2
5 expressive language disorder 10.0 TARDBP FUS
6 amyotrophic lateral sclerosis 18 10.0 TARDBP FUS
7 juvenile amyotrophic lateral sclerosis 9.9 SETX FUS ALS2
8 lethal congenital contracture syndrome 1 9.9 TARDBP FUS
9 anterior horn cell disease 9.9 TARDBP FUS
10 spinocerebellar ataxia 31 9.7 TARDBP SETX FUS
11 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.7 TARDBP FUS
12 amyotrophic lateral sclerosis type 14 9.7 TARDBP OPTN FUS
13 arteriolosclerosis 9.7 TARDBP ADIPOQ
14 ocular hypertension 9.5 OPTN FOS
15 amyotrophic lateral sclerosis 21 9.5 TARDBP SETX OPTN FUS
16 amyotrophic lateral sclerosis type 6 9.3 TARDBP SETX FUS DAO ALS2
17 motor neuron disease 9.2 TARDBP SETX OPTN FUS ALS2
18 lateral sclerosis 8.7 TARDBP SETX OPTN FUS FIG4 ANG
19 amyotrophic lateral sclerosis 11 8.4 TARDBP SETX OPTN FUS FIG4 DAO
20 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 8.4 TARDBP SETX OPTN FUS FIG4 DAO
21 amyotrophic lateral sclerosis 1 8.1 TARDBP SETX OPTN FUS FIG4 DAO

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:

32
# Description HPO Frequency HPO Source Accession
1 spasticity 32 HP:0001257
2 amyotrophic lateral sclerosis 32 HP:0007354
3 distal amyotrophy 32 HP:0003693
4 distal muscle weakness 32 HP:0002460

Clinical features from OMIM:

611895

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 ADIPOQ ALS2 CTSC DAO DUSP1 FIG4
2 growth/size/body region MP:0005378 9.92 ADIPOQ ALS2 CTSC DUSP1 FIG4 FOS
3 hematopoietic system MP:0005397 9.86 ADIPOQ CTSC DUSP1 FIG4 FOS MPP5
4 homeostasis/metabolism MP:0005376 9.81 ADIPOQ ALS2 CTSC DAO DUSP1 FOS
5 immune system MP:0005387 9.65 ADIPOQ ALS2 CTSC DUSP1 FIG4 FOS
6 nervous system MP:0003631 9.28 ADIPOQ ALS2 CTSC DAO DUSP1 FIG4

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:

41
Brain, Spinal Cord

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. 8 71
20577002 2010
2
A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation. 8 71
19153377 2009
3
Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis. 8 71
18852347 2008
4
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis. 8 71
18087731 2008
5
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. 8 71
17886298 2007
6
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. 8 71
16501576 2006
7
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 71
21914052 2012
8
A novel candidate region for ALS on chromosome 14q11.2. 8
15557516 2004
9
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. 8
12847526 2003
10
Amyotrophic Lateral Sclerosis Overview 71
20301623 2001
11
Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis. 8
10371543 1999
12
Acute neuromuscular respiratory failure: a population-based study of aetiology and outcome in Northern Ireland. 38
24534488 2014

Variations for Amyotrophic Lateral Sclerosis 9

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 9:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ANG NM_001145.4(ANG): c.121A> G (p.Lys41Glu) single nucleotide variant Pathogenic rs121909537 14:21161844-21161844 14:20693685-20693685
2 ANG NM_001145.4(ANG): c.164G> A (p.Arg55Lys) single nucleotide variant Pathogenic rs121909538 14:21161887-21161887 14:20693728-20693728
3 ANG NM_001145.4(ANG): c.189C> G (p.Cys63Trp) single nucleotide variant Pathogenic rs121909539 14:21161912-21161912 14:20693753-20693753
4 ANG NM_001145.4(ANG): c.191A> T (p.Lys64Ile) single nucleotide variant Pathogenic rs121909540 14:21161914-21161914 14:20693755-20693755
5 ANG NM_001145.4(ANG): c.107A> T (p.Gln36Leu) single nucleotide variant Pathogenic rs121909535 14:21161830-21161830 14:20693671-20693671
6 ANG NM_001145.4(ANG): c.155G> A (p.Ser52Asn) single nucleotide variant Pathogenic rs121909542 14:21161878-21161878 14:20693719-20693719
7 ANG NM_001145.4(ANG): c.407C> T (p.Pro136Leu) single nucleotide variant Pathogenic rs121909543 14:21162130-21162130 14:20693971-20693971
8 ANG NM_001145.4(ANG): c.409G> A (p.Val137Ile) single nucleotide variant Pathogenic rs121909544 14:21162132-21162132 14:20693973-20693973
9 ANG NM_001145.4(ANG): c.208A> G (p.Ile70Val) single nucleotide variant Uncertain significance rs121909541 14:21161931-21161931 14:20693772-20693772
10 ANG NM_001145.4(ANG): c.122A> T (p.Lys41Ile) single nucleotide variant Likely benign rs121909536 14:21161845-21161845 14:20693686-20693686

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

74 (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 growth cone GO:0030426 8.8 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 response to cAMP GO:0051591 9.43 FOS DUSP1
2 cellular response to hormone stimulus GO:0032870 9.4 FOS DUSP1
3 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0043124 9.37 OPTN ADIPOQ
4 negative regulation of MAP kinase activity GO:0043407 9.32 DUSP1 ADIPOQ
5 cell death GO:0008219 9.26 OPTN ALS2
6 response to light stimulus GO:0009416 9.16 FOS DUSP1
7 negative regulation of DNA biosynthetic process GO:2000279 8.96 DUSP1 ADIPOQ
8 myelin assembly GO:0032288 8.62 MPP5 FIG4

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 9.44 TARDBP SETX OPTN MPP5 FUS FOS
2 identical protein binding GO:0042802 9.43 TARDBP SETX OPTN FUS CTSC ADIPOQ

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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