FTDALS2
MCID: FRN040
MIFTS: 27

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 (FTDALS2)

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

Aliases & Classifications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

MalaCards integrated aliases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

Name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 57 12 75 29 6 73
Ftdals2 57 12 75
Dementia, Frontotemporal, and/or Amyotrophic Lateral Sclerosis, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
two unrelated families have been reported (last curated july 2014)
late-adult onset (usually after age 50 years)


HPO:

32
frontotemporal dementia and/or amyotrophic lateral sclerosis 2:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

UniProtKB/Swiss-Prot : 75 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2: A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.

MalaCards based summary : Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2, also known as ftdals2, is related to spinal muscular atrophy, jokela type and myopathy, isolated mitochondrial, autosomal dominant, and has symptoms including cerebellar ataxia An important gene associated with Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 is CHCHD10 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10). Affiliated tissues include brain, spinal cord and temporal lobe, and related phenotypes are ptosis and ataxia

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.

Description from OMIM: 615911

Related Diseases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Diseases in the Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 family:

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, jokela type 9.5 C22orf15 CHCHD10 LOC107985577
2 myopathy, isolated mitochondrial, autosomal dominant 9.4 C22orf15 CHCHD10 LOC107985577

Symptoms & Phenotypes for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
frontal lobe dementia
motor neuron disease
extensor plantar responses
cerebellar ataxia
more
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Head And Neck Ears:
sensorineural deafness (in some patients)

Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
mitochondrial dna deletions
proximal muscle weakness (in some patients)
cytochrome c oxidase deficiency
ragged red fibers seen on biopsy
lipid and glycogen accumulation
more
Head And Neck Eyes:
ptosis (uncommon)


Clinical features from OMIM:

615911

Human phenotypes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 occasional (7.5%) HP:0000508
2 ataxia 32 HP:0001251
3 dysarthria 32 HP:0001260
4 dysphagia 32 HP:0002015
5 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
6 babinski sign 32 HP:0003487
7 cerebral cortical atrophy 32 occasional (7.5%) HP:0002120
8 amyotrophic lateral sclerosis 32 HP:0007354
9 areflexia 32 HP:0001284
10 hyporeflexia 32 HP:0001265
11 proximal muscle weakness 32 occasional (7.5%) HP:0003701
12 parkinsonism 32 occasional (7.5%) HP:0001300
13 bulbar palsy 32 HP:0001283
14 frontotemporal dementia 32 HP:0002145
15 frontal lobe dementia 32 HP:0000727

UMLS symptoms related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:


cerebellar ataxia

GenomeRNAi Phenotypes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased caspase activity GR00400-S-1 9.23 C22orf15 CHCHD10
2 Increased caspase activity GR00400-S-2 9.23 C22orf15 CHCHD10
3 Decreased POU5F1-GFP protein expression GR00184-A-1 9.13 C22orf15 CHCHD10
4 Decreased POU5F1-GFP protein expression GR00184-A-4 9.13 CHCHD10

Drugs & Therapeutics for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Search Clinical Trials , NIH Clinical Center for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Genetic Tests for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Genetic tests related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

# Genetic test Affiliating Genes
1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 29 CHCHD10

Anatomical Context for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

MalaCards organs/tissues related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

41
Brain, Spinal Cord, Temporal Lobe, Bone

Publications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

UniProtKB/Swiss-Prot genetic disease variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

75
# Symbol AA change Variation ID SNP ID
1 CHCHD10 p.Pro34Ser VAR_071805 rs551521196
2 CHCHD10 p.Ser59Leu VAR_071806 rs587777574

ClinVar genetic disease variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHCHD10 NM_001301339.1(CHCHD10): c.176C> T (p.Ser59Leu) single nucleotide variant Pathogenic rs587777574 GRCh37 Chromosome 22, 24109646: 24109646
2 CHCHD10 NM_001301339.1(CHCHD10): c.176C> T (p.Ser59Leu) single nucleotide variant Pathogenic rs587777574 GRCh38 Chromosome 22, 23767459: 23767459
3 CHCHD10 NM_001301339.1(CHCHD10): c.44G> T (p.Arg15Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs730880030 GRCh38 Chromosome 22, 23767591: 23767591
4 CHCHD10 NM_001301339.1(CHCHD10): c.44G> T (p.Arg15Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs730880030 GRCh37 Chromosome 22, 24109778: 24109778
5 CHCHD10 NM_001301339.1(CHCHD10): c.239C> T (p.Pro80Leu) single nucleotide variant Likely benign rs775332895 GRCh37 Chromosome 22, 24109583: 24109583
6 CHCHD10 NM_001301339.1(CHCHD10): c.239C> T (p.Pro80Leu) single nucleotide variant Likely benign rs775332895 GRCh38 Chromosome 22, 23767396: 23767396
7 CHCHD10 NM_001301339.1(CHCHD10): c.100C> T (p.Pro34Ser) single nucleotide variant Likely benign rs551521196 GRCh37 Chromosome 22, 24109722: 24109722
8 CHCHD10 NM_001301339.1(CHCHD10): c.100C> T (p.Pro34Ser) single nucleotide variant Likely benign rs551521196 GRCh38 Chromosome 22, 23767535: 23767535
9 CHCHD10 NM_213720.2(CHCHD10): c.330G> A (p.Leu110=) single nucleotide variant Benign rs138183274 GRCh37 Chromosome 22, 24108394: 24108394
10 CHCHD10 NM_213720.2(CHCHD10): c.330G> A (p.Leu110=) single nucleotide variant Benign rs138183274 GRCh38 Chromosome 22, 23766207: 23766207
11 CHCHD10 NM_213720.2(CHCHD10): c.286C> A (p.Pro96Thr) single nucleotide variant Benign rs111677724 GRCh37 Chromosome 22, 24108438: 24108438
12 CHCHD10 NM_213720.2(CHCHD10): c.286C> A (p.Pro96Thr) single nucleotide variant Benign rs111677724 GRCh38 Chromosome 22, 23766251: 23766251
13 CHCHD10 NM_213720.2(CHCHD10): c.234G> A (p.Ser78=) single nucleotide variant Benign rs111527940 GRCh37 Chromosome 22, 24109588: 24109588
14 CHCHD10 NM_213720.2(CHCHD10): c.234G> A (p.Ser78=) single nucleotide variant Benign rs111527940 GRCh38 Chromosome 22, 23767401: 23767401
15 CHCHD10 NM_213720.2(CHCHD10): c.136G> T (p.Ala46Ser) single nucleotide variant Benign rs200831077 GRCh37 Chromosome 22, 24109686: 24109686
16 CHCHD10 NM_213720.2(CHCHD10): c.136G> T (p.Ala46Ser) single nucleotide variant Benign rs200831077 GRCh38 Chromosome 22, 23767499: 23767499
17 CHCHD10 NM_213720.2(CHCHD10): c.21C> T (p.Ser7=) single nucleotide variant Likely benign rs984321947 GRCh38 Chromosome 22, 23767854: 23767854
18 CHCHD10 NM_213720.2(CHCHD10): c.21C> T (p.Ser7=) single nucleotide variant Likely benign rs984321947 GRCh37 Chromosome 22, 24110041: 24110041
19 CHCHD10 NC_000022.11: g.(?_23765987)_(23767894_?)dup duplication Uncertain significance GRCh38 Chromosome 22, 23765987: 23767894
20 CHCHD10 NC_000022.11: g.(?_23765987)_(23767894_?)dup duplication Uncertain significance GRCh37 Chromosome 22, 24108174: 24110081
21 CHCHD10 NM_213720.2(CHCHD10): c.214G> A (p.Ala72Thr) single nucleotide variant Uncertain significance rs542541060 GRCh38 Chromosome 22, 23767421: 23767421
22 CHCHD10 NM_213720.2(CHCHD10): c.214G> A (p.Ala72Thr) single nucleotide variant Uncertain significance rs542541060 GRCh37 Chromosome 22, 24109608: 24109608
23 CHCHD10 NM_213720.2(CHCHD10): c.378C> T (p.Ser126=) single nucleotide variant Likely benign rs199579266 GRCh37 Chromosome 22, 24108346: 24108346
24 CHCHD10 NM_213720.2(CHCHD10): c.378C> T (p.Ser126=) single nucleotide variant Likely benign rs199579266 GRCh38 Chromosome 22, 23766159: 23766159
25 CHCHD10 NM_213720.2(CHCHD10): c.349A> T (p.Ser117Cys) single nucleotide variant Uncertain significance rs931085449 GRCh38 Chromosome 22, 23766188: 23766188
26 CHCHD10 NM_213720.2(CHCHD10): c.349A> T (p.Ser117Cys) single nucleotide variant Uncertain significance rs931085449 GRCh37 Chromosome 22, 24108375: 24108375
27 CHCHD10 NM_213720.2(CHCHD10): c.41+7G> A single nucleotide variant Benign rs141526972 GRCh38 Chromosome 22, 23767827: 23767827
28 CHCHD10 NM_213720.2(CHCHD10): c.41+7G> A single nucleotide variant Benign rs141526972 GRCh37 Chromosome 22, 24110014: 24110014
29 CHCHD10 NM_213720.2(CHCHD10): c.42-7C> G single nucleotide variant Benign rs567239313 GRCh37 Chromosome 22, 24109787: 24109787
30 CHCHD10 NM_213720.2(CHCHD10): c.42-7C> G single nucleotide variant Benign rs567239313 GRCh38 Chromosome 22, 23767600: 23767600
31 CHCHD10 NM_213720.2(CHCHD10): c.403T> C (p.Tyr135His) single nucleotide variant Likely benign rs145649831 GRCh37 Chromosome 22, 24108321: 24108321
32 CHCHD10 NM_213720.2(CHCHD10): c.403T> C (p.Tyr135His) single nucleotide variant Likely benign rs145649831 GRCh38 Chromosome 22, 23766134: 23766134
33 CHCHD10 NM_213720.2(CHCHD10): c.42-9C> A single nucleotide variant Likely benign GRCh38 Chromosome 22, 23767602: 23767602
34 CHCHD10 NM_213720.2(CHCHD10): c.42-9C> A single nucleotide variant Likely benign GRCh37 Chromosome 22, 24109789: 24109789
35 CHCHD10 NM_213720.2(CHCHD10): c.274G> A (p.Ala92Thr) single nucleotide variant Uncertain significance rs374353973 GRCh37 Chromosome 22, 24108450: 24108450
36 CHCHD10 NM_213720.2(CHCHD10): c.274G> A (p.Ala92Thr) single nucleotide variant Uncertain significance rs374353973 GRCh38 Chromosome 22, 23766263: 23766263
37 CHCHD10 NM_213720.2(CHCHD10): c.113C> T (p.Pro38Leu) single nucleotide variant Uncertain significance rs564997204 GRCh37 Chromosome 22, 24109709: 24109709
38 CHCHD10 NM_213720.2(CHCHD10): c.113C> T (p.Pro38Leu) single nucleotide variant Uncertain significance rs564997204 GRCh38 Chromosome 22, 23767522: 23767522
39 CHCHD10 NM_213720.2(CHCHD10): c.327C> G (p.Phe109Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 24108397: 24108397
40 CHCHD10 NM_213720.2(CHCHD10): c.327C> G (p.Phe109Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 23766210: 23766210
41 CHCHD10 NM_213720.2(CHCHD10): c.312C> A (p.Tyr104Ter) single nucleotide variant Uncertain significance rs9153 GRCh37 Chromosome 22, 24108412: 24108412
42 CHCHD10 NM_213720.2(CHCHD10): c.312C> A (p.Tyr104Ter) single nucleotide variant Uncertain significance rs9153 GRCh38 Chromosome 22, 23766225: 23766225
43 CHCHD10 NM_213720.2(CHCHD10): c.386T> C (p.Leu129Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 23766151: 23766151
44 CHCHD10 NM_213720.2(CHCHD10): c.386T> C (p.Leu129Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 24108338: 24108338
45 CHCHD10 NM_213720.2(CHCHD10): c.276T> A (p.Ala92=) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 23766261: 23766261
46 CHCHD10 NM_213720.2(CHCHD10): c.276T> A (p.Ala92=) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 24108448: 24108448
47 CHCHD10 NM_213720.2(CHCHD10): c.190G> A (p.Val64Ile) single nucleotide variant Uncertain significance rs781304084 GRCh38 Chromosome 22, 23767445: 23767445
48 CHCHD10 NM_213720.2(CHCHD10): c.190G> A (p.Val64Ile) single nucleotide variant Uncertain significance rs781304084 GRCh37 Chromosome 22, 24109632: 24109632
49 CHCHD10 NM_213720.2(CHCHD10): c.312C> G (p.Tyr104Ter) single nucleotide variant Uncertain significance rs9153 GRCh37 Chromosome 22, 24108412: 24108412
50 CHCHD10 NM_213720.2(CHCHD10): c.312C> G (p.Tyr104Ter) single nucleotide variant Uncertain significance rs9153 GRCh38 Chromosome 22, 23766225: 23766225

Expression for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Search GEO for disease gene expression data for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2.

Pathways for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

GO Terms for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Sources for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

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
Content
Loading form....