MCID: FRN040
MIFTS: 26

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Categories: Genetic diseases, Neuronal diseases, Mental 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 temporal lobe, spinal cord and brain, and related phenotypes are sensorineural hearing impairment and ptosis

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 8.5 C22orf15 CHCHD10 LOC107985577
2 myopathy, isolated mitochondrial, autosomal dominant 8.2 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 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
2 ptosis 32 occasional (7.5%) HP:0000508
3 frontal lobe dementia 32 HP:0000727
4 ataxia 32 HP:0001251
5 dysarthria 32 HP:0001260
6 hyporeflexia 32 HP:0001265
7 bulbar palsy 32 HP:0001283
8 areflexia 32 HP:0001284
9 parkinsonism 32 occasional (7.5%) HP:0001300
10 dysphagia 32 HP:0002015
11 cerebral cortical atrophy 32 occasional (7.5%) HP:0002120
12 frontotemporal dementia 32 HP:0002145
13 babinski sign 32 HP:0003487
14 proximal muscle weakness 32 occasional (7.5%) HP:0003701
15 amyotrophic lateral sclerosis 32 HP:0007354

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
Temporal Lobe, Spinal Cord, Brain

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 all 40)
# 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 GRCh38 Chromosome 22, 23766207: 23766207
10 CHCHD10 NM_213720.2(CHCHD10): c.330G> A (p.Leu110=) single nucleotide variant Benign rs138183274 GRCh37 Chromosome 22, 24108394: 24108394
11 CHCHD10 NM_213720.2(CHCHD10): c.286C> A (p.Pro96Thr) single nucleotide variant Benign rs111677724 GRCh38 Chromosome 22, 23766251: 23766251
12 CHCHD10 NM_213720.2(CHCHD10): c.286C> A (p.Pro96Thr) single nucleotide variant Benign rs111677724 GRCh37 Chromosome 22, 24108438: 24108438
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 GRCh37 Chromosome 22, 24110041: 24110041
18 CHCHD10 NM_213720.2(CHCHD10): c.21C> T (p.Ser7=) single nucleotide variant Likely benign rs984321947 GRCh38 Chromosome 22, 23767854: 23767854
19 CHCHD10 NC_000022.11: g.(?_23765987)_(23767894_?)dup duplication Uncertain significance GRCh37 Chromosome 22, 24108174: 24110081
20 CHCHD10 NC_000022.11: g.(?_23765987)_(23767894_?)dup duplication Uncertain significance GRCh38 Chromosome 22, 23765987: 23767894
21 CHCHD10 NM_213720.2(CHCHD10): c.214G> A (p.Ala72Thr) single nucleotide variant Uncertain significance rs542541060 GRCh37 Chromosome 22, 24109608: 24109608
22 CHCHD10 NM_213720.2(CHCHD10): c.214G> A (p.Ala72Thr) single nucleotide variant Uncertain significance rs542541060 GRCh38 Chromosome 22, 23767421: 23767421
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 GRCh37 Chromosome 22, 24108375: 24108375
26 CHCHD10 NM_213720.2(CHCHD10): c.349A> T (p.Ser117Cys) single nucleotide variant Uncertain significance rs931085449 GRCh38 Chromosome 22, 23766188: 23766188
27 CHCHD10 NM_213720.2(CHCHD10): c.41+7G> A single nucleotide variant Benign rs141526972 GRCh37 Chromosome 22, 24110014: 24110014
28 CHCHD10 NM_213720.2(CHCHD10): c.41+7G> A single nucleotide variant Benign rs141526972 GRCh38 Chromosome 22, 23767827: 23767827
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 GRCh37 Chromosome 22, 24109789: 24109789
34 CHCHD10 NM_213720.2(CHCHD10): c.42-9C> A single nucleotide variant Likely benign GRCh38 Chromosome 22, 23767602: 23767602
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 GRCh38 Chromosome 22, 23766210: 23766210
40 CHCHD10 NM_213720.2(CHCHD10): c.327C> G (p.Phe109Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 24108397: 24108397

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

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