ALS9
MCID: AMY085
MIFTS: 35

Amyotrophic Lateral Sclerosis 9 (ALS9)

Categories: Genetic diseases, Mental 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 58 12 54 76 13 74
Amyotrophic Lateral Sclerosis Type 9 12 54 30 6 15
Als9 58 12 54 76
Sclerosis, Lateral, Amyotrophic, Type Type 9 41

Characteristics:

HPO:

33
amyotrophic lateral sclerosis 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060200
OMIM 58 611895
MeSH 45 D000690
MedGen 43 C2678468
UMLS 74 C2678468

Summaries for Amyotrophic Lateral Sclerosis 9

UniProtKB/Swiss-Prot : 76 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 5, juvenile and amyotrophic lateral sclerosis 4, 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.

Description from OMIM: 611895

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 21)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 5, juvenile 10.2
2 amyotrophic lateral sclerosis 4, juvenile 10.1 ALS2 DAO SETX
3 brown-vialetto-van laere syndrome 10.0 ALS2 TARDBP
4 expressive language disorder 10.0 FUS TARDBP
5 amyotrophic lateral sclerosis 18 10.0 FUS TARDBP
6 lethal congenital contracture syndrome 1 10.0 FUS TARDBP
7 juvenile amyotrophic lateral sclerosis 9.9 ALS2 FUS SETX
8 anterior horn cell disease 9.9 FUS TARDBP
9 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.8 FUS TARDBP
10 spinocerebellar ataxia 31 9.8 FUS SETX TARDBP
11 amyotrophic lateral sclerosis type 14 9.8 FUS OPTN TARDBP
12 arteriolosclerosis 9.8 ADIPOQ TARDBP
13 ocular hypertension 9.7 FOS OPTN
14 amyotrophic lateral sclerosis 21 9.7 FUS OPTN SETX TARDBP
15 amyotrophic lateral sclerosis type 6 9.6 ALS2 DAO FUS SETX TARDBP
16 motor neuron disease 9.5 ALS2 FUS OPTN SETX TARDBP
17 lateral sclerosis 9.2 ALS2 ANG FIG4 FUS OPTN SETX
18 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.0 ALS2 ANG DAO FIG4 FUS OPTN
19 amyotrophic lateral sclerosis 11 9.0 ALS2 ANG DAO FIG4 FUS OPTN
20 amyotrophic lateral sclerosis 1 8.8 ALS2 ANG CTSC DAO FIG4 FUS
21 amyotrophic lateral sclerosis 7 7.9 ALS2 ANG CTSC DAO DUSP1 FIG4

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:

33
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 amyotrophic lateral sclerosis 33 HP:0007354
3 distal muscle weakness 33 HP:0002460
4 distal amyotrophy 33 HP:0003693

Clinical features from OMIM:

611895

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 9:

47
# 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 30 ANG

Anatomical Context for Amyotrophic Lateral Sclerosis 9

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 9:

42
Brain, Spinal Cord

Publications for Amyotrophic Lateral Sclerosis 9

Articles related to Amyotrophic Lateral Sclerosis 9:

# Title Authors Year
1
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. ( 20577002 )
2010
2
A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation. ( 19153377 )
2009
3
Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis. ( 18852347 )
2008
4
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis. ( 18087731 )
2008
5
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. ( 17886298 )
2007
6
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. ( 16501576 )
2006

Variations for Amyotrophic Lateral Sclerosis 9

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

76 (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

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 9:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANG NM_001145.4(ANG): c.107A> T (p.Gln36Leu) single nucleotide variant Pathogenic rs121909535 GRCh37 Chromosome 14, 21161830: 21161830
2 ANG NM_001145.4(ANG): c.107A> T (p.Gln36Leu) single nucleotide variant Pathogenic rs121909535 GRCh38 Chromosome 14, 20693671: 20693671
3 ANG NM_001145.4(ANG): c.122A> T (p.Lys41Ile) single nucleotide variant Likely benign rs121909536 GRCh37 Chromosome 14, 21161845: 21161845
4 ANG NM_001145.4(ANG): c.122A> T (p.Lys41Ile) single nucleotide variant Likely benign rs121909536 GRCh38 Chromosome 14, 20693686: 20693686
5 ANG NM_001145.4(ANG): c.121A> G (p.Lys41Glu) single nucleotide variant Pathogenic rs121909537 GRCh37 Chromosome 14, 21161844: 21161844
6 ANG NM_001145.4(ANG): c.121A> G (p.Lys41Glu) single nucleotide variant Pathogenic rs121909537 GRCh38 Chromosome 14, 20693685: 20693685
7 ANG NM_001145.4(ANG): c.164G> A (p.Arg55Lys) single nucleotide variant Pathogenic rs121909538 GRCh37 Chromosome 14, 21161887: 21161887
8 ANG NM_001145.4(ANG): c.164G> A (p.Arg55Lys) single nucleotide variant Pathogenic rs121909538 GRCh38 Chromosome 14, 20693728: 20693728
9 ANG NM_001145.4(ANG): c.189C> G (p.Cys63Trp) single nucleotide variant Pathogenic rs121909539 GRCh37 Chromosome 14, 21161912: 21161912
10 ANG NM_001145.4(ANG): c.189C> G (p.Cys63Trp) single nucleotide variant Pathogenic rs121909539 GRCh38 Chromosome 14, 20693753: 20693753
11 ANG NM_001145.4(ANG): c.191A> T (p.Lys64Ile) single nucleotide variant Pathogenic rs121909540 GRCh37 Chromosome 14, 21161914: 21161914
12 ANG NM_001145.4(ANG): c.191A> T (p.Lys64Ile) single nucleotide variant Pathogenic rs121909540 GRCh38 Chromosome 14, 20693755: 20693755
13 ANG NM_001145.4(ANG): c.208A> G (p.Ile70Val) single nucleotide variant Uncertain significance rs121909541 GRCh37 Chromosome 14, 21161931: 21161931
14 ANG NM_001145.4(ANG): c.208A> G (p.Ile70Val) single nucleotide variant Uncertain significance rs121909541 GRCh38 Chromosome 14, 20693772: 20693772
15 ANG NM_001145.4(ANG): c.155G> A (p.Ser52Asn) single nucleotide variant Pathogenic rs121909542 GRCh37 Chromosome 14, 21161878: 21161878
16 ANG NM_001145.4(ANG): c.155G> A (p.Ser52Asn) single nucleotide variant Pathogenic rs121909542 GRCh38 Chromosome 14, 20693719: 20693719
17 ANG NM_001145.4(ANG): c.407C> T (p.Pro136Leu) single nucleotide variant Pathogenic rs121909543 GRCh37 Chromosome 14, 21162130: 21162130
18 ANG NM_001145.4(ANG): c.407C> T (p.Pro136Leu) single nucleotide variant Pathogenic rs121909543 GRCh38 Chromosome 14, 20693971: 20693971
19 ANG NM_001145.4(ANG): c.409G> A (p.Val137Ile) single nucleotide variant Pathogenic rs121909544 GRCh37 Chromosome 14, 21162132: 21162132
20 ANG NM_001145.4(ANG): c.409G> A (p.Val137Ile) single nucleotide variant Pathogenic rs121909544 GRCh38 Chromosome 14, 20693973: 20693973

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 ALS2 ANG SETX

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

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

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 ADIPOQ ALS2 ANG CTSC DAO DUSP1
2 identical protein binding GO:0042802 9.43 ADIPOQ CTSC FUS OPTN SETX TARDBP

Sources for Amyotrophic Lateral Sclerosis 9

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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