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Frontotemporal dementia with motor neuron disease
3 OMIM references -
3 associated genes
141 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Juvenile amyotrophic lateral sclerosis
Myxoid / round cell liposarcoma
Blackfan-Diamond anemia
Autosomal dominant nonsyndromic intellectual deficit
Young adult-onset Parkinsonism
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Extraskeletal myxoid chondrosarcoma
Fibronectin glomerulopathy
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Dedifferentiated liposarcoma
Lethal acantholytic epidermolysis bullosa
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Retinitis pigmentosa
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
Translocation renal cell carcinoma
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Anaplastic ependymoma
Peripheral resistance to thyroid hormones
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Melanoma of soft part
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Split hand-split foot malformation
Adult-onset distal myopathy due to VCP mutation
Spastic paraplegia - Paget disease of bone
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Estrogen resistance syndrome
17q11 microdeletion syndrome
3-phosphoglycerate dehydrogenase deficiency
Acute infantile liver failure-multisystemic involvement syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Aicardi-Goutières syndrome
Autosomal agammaglobulinemia
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Cabezas syndrome
Charcot-Marie-Tooth disease type 4G
Combined immunodeficiency due to STK4 deficiency
Cree leukoencephalopathy
Distal myopathy with vocal cord weakness
Dyschromatosis symmetrica hereditaria
Epidermolysis bullosa simplex due to plakophilin deficiency
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial infantile bilateral striatal necrosis
Familial isolated congenital asplenia
Familial melanoma
Familial pancreatic carcinoma
Familial prostate cancer
Fuchs endothelial corneal dystrophy
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Hyperinsulinism due to INSR deficiency
Hypotonia with lactic acidemia and hyperammonemia
Hypotrichosis simplex
Idiopathic pulmonary fibrosis
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Insulin-resistance syndrome type A
Isolated ATP synthase deficiency
Keratosis palmoplantaris striata
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Naxos disease
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Oculopharyngeal muscular dystrophy
Pallister-Hall syndrome
Papillary or follicular thyroid carcinoma
Pediatric systemic lupus erythematosus
Pitt-Hopkins syndrome
Precursor B-cell acute lymphoblastic leukemia
Primary peritoneal carcinoma
Primary sclerosing cholangitis
Rabson-Mendenhall syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Spinocerebellar ataxia type 26
Spinocerebellar ataxia type 36
Triose phosphate-isomerase deficiency
Weaver syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Hereditary pheochromocytoma-paraganglioma
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated dilated cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Omenn syndrome
Progeria-associated arthropathy
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
- Frontotemporal dementia with amyotrophic lateral sclerosis

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
C9ORF72 Q96LT7614260
FUS P35637137070
TARDBP Q13148605078
No signs/symptoms info available.