MCID: AMY085
MIFTS: 33

Amyotrophic Lateral Sclerosis 9

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 9

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 9:

Name: Amyotrophic Lateral Sclerosis 9 57 12 53 75 13 73
Amyotrophic Lateral Sclerosis Type 9 12 53 29 6 15
Als9 57 12 53 75
Sclerosis, Lateral, Amyotrophic, Type Type 9 40

Characteristics:

HPO:

32
amyotrophic lateral sclerosis 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611895
Disease Ontology 12 DOID:0060200
MedGen 42 C2678468
MeSH 44 D000690
UMLS 73 C2678468

Summaries for Amyotrophic Lateral Sclerosis 9

UniProtKB/Swiss-Prot : 75 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 4, juvenile and denture stomatitis. 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 distal muscle weakness

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 22)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 4, juvenile 10.5 ALS2 SETX
2 denture stomatitis 10.4 BCR GFM1
3 amyotrophic lateral sclerosis 3 10.3 ALS2 BCR GFM1
4 juvenile amyotrophic lateral sclerosis 10.1 ALS2 FUS SETX
5 expressive language disorder 10.1 FUS TARDBP
6 amyotrophic lateral sclerosis 18 10.1 FUS TARDBP
7 brown-vialetto-van laere syndrome 10.0 ALS2 TARDBP
8 lethal congenital contracture syndrome 1 10.0 FUS TARDBP
9 anterior horn cell disease 9.9 FUS TARDBP
10 spinocerebellar ataxia 31 9.8 FUS SETX TARDBP
11 ideomotor apraxia 9.7 FUS TARDBP
12 amyotrophic lateral sclerosis type 14 9.6 FUS OPTN TARDBP
13 nervous system disease 9.6 FUS OPTN TARDBP
14 nominal aphasia 9.5 FUS TARDBP
15 amyotrophic lateral sclerosis 21 9.3 FUS OPTN SETX TARDBP
16 amyotrophic lateral sclerosis type 6 9.3 ALS2 DAO FUS SETX TARDBP
17 motor neuron disease 9.0 ALS2 FUS OPTN SETX TARDBP
18 lateral sclerosis 8.4 ALS2 ANG FIG4 FUS OPTN SETX
19 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 8.1 ALS2 ANG DAO FIG4 FUS OPTN
20 amyotrophic lateral sclerosis 11 8.1 ALS2 ANG DAO FIG4 FUS OPTN
21 amyotrophic lateral sclerosis 1 7.1 ALS2 ANG BCR CTSC DAO FIG4
22 amyotrophic lateral sclerosis 7 5.3 ALS2 ANG BCR CTSC DAO DUSP1

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

Clinical features from OMIM:

611895

Human phenotypes related to Amyotrophic Lateral Sclerosis 9:

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

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 ALS2 BCR CTSC DAO DUSP1 FIG4
2 homeostasis/metabolism MP:0005376 9.9 OPTN SETX SLK TARDBP ALS2 BCR
3 immune system MP:0005387 9.65 ALS2 BCR CTSC DUSP1 FIG4 FOS
4 nervous system MP:0003631 9.32 ALS2 BCR 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

Variations for Amyotrophic Lateral Sclerosis 9

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

75 (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 rs1032422334Amyotrophic
14 ANG p.Asp46Gly VAR_073022

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 9:

6
(show all 16)
# 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.121A> G (p.Lys41Glu) single nucleotide variant Pathogenic rs121909537 GRCh37 Chromosome 14, 21161844: 21161844
4 ANG NM_001145.4(ANG): c.121A> G (p.Lys41Glu) single nucleotide variant Pathogenic rs121909537 GRCh38 Chromosome 14, 20693685: 20693685
5 ANG NM_001145.4(ANG): c.164G> A (p.Arg55Lys) single nucleotide variant Pathogenic rs121909538 GRCh37 Chromosome 14, 21161887: 21161887
6 ANG NM_001145.4(ANG): c.164G> A (p.Arg55Lys) single nucleotide variant Pathogenic rs121909538 GRCh38 Chromosome 14, 20693728: 20693728
7 ANG NM_001145.4(ANG): c.189C> G (p.Cys63Trp) single nucleotide variant Pathogenic rs121909539 GRCh37 Chromosome 14, 21161912: 21161912
8 ANG NM_001145.4(ANG): c.189C> G (p.Cys63Trp) single nucleotide variant Pathogenic rs121909539 GRCh38 Chromosome 14, 20693753: 20693753
9 ANG NM_001145.4(ANG): c.191A> T (p.Lys64Ile) single nucleotide variant Pathogenic rs121909540 GRCh37 Chromosome 14, 21161914: 21161914
10 ANG NM_001145.4(ANG): c.191A> T (p.Lys64Ile) single nucleotide variant Pathogenic rs121909540 GRCh38 Chromosome 14, 20693755: 20693755
11 ANG NM_001145.4(ANG): c.155G> A (p.Ser52Asn) single nucleotide variant Pathogenic rs121909542 GRCh37 Chromosome 14, 21161878: 21161878
12 ANG NM_001145.4(ANG): c.155G> A (p.Ser52Asn) single nucleotide variant Pathogenic rs121909542 GRCh38 Chromosome 14, 20693719: 20693719
13 ANG NM_001145.4(ANG): c.407C> T (p.Pro136Leu) single nucleotide variant Pathogenic rs121909543 GRCh37 Chromosome 14, 21162130: 21162130
14 ANG NM_001145.4(ANG): c.407C> T (p.Pro136Leu) single nucleotide variant Pathogenic rs121909543 GRCh38 Chromosome 14, 20693971: 20693971
15 ANG NM_001145.4(ANG): c.409G> A (p.Val137Ile) single nucleotide variant Pathogenic rs121909544 GRCh37 Chromosome 14, 21162132: 21162132
16 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 response to light stimulus GO:0009416 8.96 DUSP1 FOS
2 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 9.53 ALS2 ANG BCR CTSC DAO DUSP1
2 identical protein binding GO:0042802 9.43 CTSC FUS OPTN SETX SLK TARDBP

Sources for Amyotrophic Lateral Sclerosis 9

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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