ICD+
% 606640

AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3


HGNC Approved Gene Symbol: ALS3

Cytogenetic location: 18q21     Genomic coordinates (GRCh38): 18:45,900,000-63,900,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number		 Inheritance Phenotype
mapping key
18q21 Amyotrophic lateral sclerosis 3 606640 AD 2
Clinical Synopsis
   
Phenotypic Series

INHERITANCE
- Autosomal dominant
NEUROLOGIC
Central Nervous System
- Progressive weakness of upper and lower limbs
- Upper and lower motor neuron signs
- Bulbar dysfunction
- Diffuse denervation seen of EMG
- No dementia
- No cerebellar degeneration
- No sensory signs
MISCELLANEOUS
- Mean age of onset 45 years of age
- Mean duration 5 years
- Based on a report of 1 large European family (last curated January 2002)
▲ Close
Amyotrophic lateral sclerosis - PS105400 - 32 Entries
Location Phenotype Inheritance Phenotype
mapping key		 Phenotype
MIM number		 Gene/Locus Gene/Locus
MIM number
1p36.22 Frontotemporal lobar degeneration, TARDBP-related AD 3 612069 TARDBP 605078
1p36.22 Amyotrophic lateral sclerosis 10, with or without FTD AD 3 612069 TARDBP 605078
2p13.1 {Amyotrophic lateral sclerosis, susceptibility to} AR, AD 3 105400 DCTN1 601143
2q33.1 Amyotrophic lateral sclerosis 2, juvenile AR 3 205100 ALS2 606352
2q34 Amyotrophic lateral sclerosis 19 AD 3 615515 ERBB4 600543
2q35 Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia AD 3 616208 TUBA4A 191110
3p11.2 Amyotrophic lateral sclerosis 17 AD 3 614696 CHMP2B 609512
5q31.2 Amyotrophic lateral sclerosis 21 AD 3 606070 MATR3 164015
5q35.3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 AD 3 616437 SQSTM1 601530
6q21 Amyotrophic lateral sclerosis 11 AD 3 612577 FIG4 609390
9p21.2 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 AD 3 105550 C9orf72 614260
9p13.3 ?Amyotrophic lateral sclerosis 16, juvenile AR 3 614373 SIGMAR1 601978
9p13.3 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 3 613954 VCP 601023
9q34.13 Amyotrophic lateral sclerosis 4, juvenile AD 3 602433 SETX 608465
10p13 Amyotrophic lateral sclerosis 12 3 613435 OPTN 602432
12q13.12 {Amyotrophic lateral sclerosis, susceptibility to} AR, AD 3 105400 PRPH 170710
12q13.13 Amyotrophic lateral sclerosis 20 AD 3 615426 HNRNPA1 164017
12q14.2 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 AD 3 616439 TBK1 604834
12q24.12 {Amyotrophic lateral sclerosis, susceptibility to, 13} AD 3 183090 ATXN2 601517
12q24.12 Spinocerebellar ataxia 2 AD 3 183090 ATXN2 601517
14q11.2 Amyotrophic lateral sclerosis 9 3 611895 ANG 105850
15q21.1 Amyotrophic lateral sclerosis 5, juvenile AR 3 602099 SPG11 610844
16p11.2 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 3 608030 FUS 137070
17p13.2 Amyotrophic lateral sclerosis 18 3 614808 PFN1 176610
18q21 Amyotrophic lateral sclerosis 3 AD 2 606640 ALS3 606640
20p13 Amyotrophic lateral sclerosis 7 2 608031 ALS7 608031
20q13.32 Amyotrophic lateral sclerosis 8 AD 3 608627 VAPB 605704
21q22.11 Amyotrophic lateral sclerosis 1 AR, AD 3 105400 SOD1 147450
22q11.23 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 AD 3 615911 CHCHD10 615903
22q12.2 ?{Amyotrophic lateral sclerosis, susceptibility to} AR, AD 3 105400 NEFH 162230
Xp11.21 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia XLD 3 300857 UBQLN2 300264
Not Mapped Amyotrophic lateral sclerosis, juvenile, with dementia 205200 ALSDC 205200
▲ Close

▼ TEXT

For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400).

▼ Description

ALS is a degenerative disorder characterized by the death of motor neurons in the cortex, brainstem, and spinal cord, resulting in progressive muscle weakness and atrophy and death from respiratory failure usually within 3 to 5 years of symptom onset (Brown, 1995).


▼ Mapping

Hand et al. (2002) performed a genome scan in a large European family (pedigree Fr017) in which at least 20 members had autosomal dominant, adult-onset ALS unlinked to chromosome 21. They found linkage of the disorder in this family to chromosome 18q21 (maximum lod score of 4.5) within a 7.5-cM, 8-Mb region flanked by markers D18S846 and D18S1109. The authors stated that the familial ALS locus on chromosome 18 represents the most common form of familial ALS.


▼ REFERENCES

  1. Brown, R. H., Jr. Amyotrophic lateral sclerosis: recent insights from genetics and transgenic mice. Cell 80: 687-692, 1995. [PubMed: 7889564, related citations] [Full Text]

  2. Hand, C. K., Khoris, J., Salachas, F., Gros-Louis, F., Simoes Lopes, A. A., Mayeux-Portas, V., Brewer, C. G., Brown, R. H., Jr., Meininger, V., Camu, W., Rouleau, G. A. A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am. J. Hum. Genet. 70: 251-256, 2002. Note: Erratum: Am. J. Hum. Genet. 71: 1007 only, 2002. [PubMed: 11706389, related citations] [Full Text]


Creation Date:
Deborah L. Stone : 1/28/2002
Edit History:
carol : 12/13/2011
terry : 3/3/2005
tkritzer : 4/30/2004
mgross : 3/18/2004
carol : 7/10/2003
carol : 7/8/2002
carol : 1/30/2002
carol : 1/29/2002

% 606640

AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3


HGNC Approved Gene Symbol: ALS3

ORPHA: 803;   DO: 0060195;  


Cytogenetic location: 18q21     Genomic coordinates (GRCh38): 18:45,900,000-63,900,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number		 Inheritance Phenotype
mapping key
18q21 Amyotrophic lateral sclerosis 3 606640 Autosomal dominant 2

TEXT

For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400).

Description

ALS is a degenerative disorder characterized by the death of motor neurons in the cortex, brainstem, and spinal cord, resulting in progressive muscle weakness and atrophy and death from respiratory failure usually within 3 to 5 years of symptom onset (Brown, 1995).


Mapping

Hand et al. (2002) performed a genome scan in a large European family (pedigree Fr017) in which at least 20 members had autosomal dominant, adult-onset ALS unlinked to chromosome 21. They found linkage of the disorder in this family to chromosome 18q21 (maximum lod score of 4.5) within a 7.5-cM, 8-Mb region flanked by markers D18S846 and D18S1109. The authors stated that the familial ALS locus on chromosome 18 represents the most common form of familial ALS.


REFERENCES

  1. Brown, R. H., Jr. Amyotrophic lateral sclerosis: recent insights from genetics and transgenic mice. Cell 80: 687-692, 1995. [PubMed: 7889564] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/0092-8674(95)90346-1]

  2. Hand, C. K., Khoris, J., Salachas, F., Gros-Louis, F., Simoes Lopes, A. A., Mayeux-Portas, V., Brewer, C. G., Brown, R. H., Jr., Meininger, V., Camu, W., Rouleau, G. A. A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am. J. Hum. Genet. 70: 251-256, 2002. Note: Erratum: Am. J. Hum. Genet. 71: 1007 only, 2002. [PubMed: 11706389] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61299-3]


Creation Date:
Deborah L. Stone : 1/28/2002
Edit History:
carol : 12/13/2011
terry : 3/3/2005
tkritzer : 4/30/2004
mgross : 3/18/2004
carol : 7/10/2003
carol : 7/8/2002
carol : 1/30/2002
carol : 1/29/2002