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Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
3 OMIM references -
3 associated genes
315 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Giant cell glioblastoma
Familial pancreatic carcinoma
Hereditary breast and ovarian cancer syndrome
Retinitis pigmentosa
Young adult-onset Parkinsonism
Common variable immunodeficiency
Translocation renal cell carcinoma
Precursor T-cell acute lymphoblastic leukemia
Familial prostate cancer
Li-Fraumeni syndrome
Extraskeletal Ewing sarcoma
Precursor B-cell acute lymphoblastic leukemia
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Essential thrombocythemia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Frontotemporal dementia with motor neuron disease
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Ewing sarcoma
Split hand-split foot malformation
Estrogen resistance syndrome
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Papilloma of choroid plexus
Chronic mucocutaneous candidiasis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Fibronectin glomerulopathy
Glycogen storage disease due to liver phosphorylase kinase deficiency
Multiple endocrine neoplasia type 1
Pseudohypoaldosteronism type 2E
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
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 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
Progeria-associated arthropathy
22q11.2 deletion syndrome
Alveolar soft-part sarcoma
Chuvash erythrocytosis
Von Hippel-Lindau disease
Peripheral primitive neuroectodermal tumor
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Idiopathic pulmonary fibrosis
LIG4 syndrome
Leber congenital amaurosis
Omenn syndrome
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Senior-Loken syndrome
17q11 microdeletion syndrome
Familial melanoma
Noonan syndrome
17p13.3 microduplication syndrome
Acute promyelocytic leukemia
Cabezas syndrome
Cataract - intellectual deficit - hypogonadism
Distal 17p13.3 microdeletion syndrome
Familial infantile bilateral striatal necrosis
Fanconi anemia
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Micro syndrome
Miller-Dieker syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant spastic paraplegia type 13
Boomerang dysplasia
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Spondylocarpotarsal synostosis
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Blackfan-Diamond anemia
Autosomal dominant hypohidrotic ectodermal dysplasia
2p21 microdeletion syndrome
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Microcephalic primordial dwarfism, Alazami type
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
Werner syndrome
Berardinelli-Seip congenital lipodystrophy
Heritable pulmonary arterial hypertension
Huntington disease
Juvenile Huntington disease
Cerebellar ataxia - hypogonadism
Richieri Costa-Pereira syndrome
Cowden syndrome
Proteus syndrome
Charcot-Marie-Tooth disease type 4D
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Homozygous familial hypercholesterolemia
Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Autosomal dominant aplasia and myelodysplasia
Bladder exstrophy
Bruck syndrome
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
EEC syndrome
Familial glucocorticoid deficiency
Johanson-Blizzard syndrome
Limb-mammary syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Desmoplastic / nodular medulloblastoma
Familial multiple meningioma
Medulloblastoma with extensive nodularity
17q11.2 microduplication syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Giant cell arteritis
Granulomatosis with polyangiitis
Idiopathic hypereosinophilic syndrome
Juvenile myelomonocytic leukemia
Juvenile rheumatoid factor-negative polyarthritis
Kennedy disease
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Oligoarticular juvenile arthritis
Partial androgen insensitivity syndrome
Pediatric systemic lupus erythematosus
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 7
Watson syndrome
Oculopharyngeal muscular dystrophy
3M syndrome
ALDH18A1-related De Barsy syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Adult-onset autosomal dominant leukodystrophy
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Aicardi-Goutières syndrome
Alpha-1-antitrypsin deficiency
Apolipoprotein A-I deficiency
Ataxia-telangiectasia-like disorder
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant hypocalcemia
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant macrothrombocytopenia
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant spastic paraplegia type 4
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Bartter syndrome with hypocalcemia
Brachyolmia type 1, Toledo type
Brugada syndrome
Bullous pemphigoid
CLN4A disease
CLN6 disease
Cardiofaciocutaneous syndrome
Chorioretinopathy, Birdshot type
Chronic respiratory distress with surfactant metabolism deficiency
Combined deficiency of factor V and factor VIII
Combined immunodeficiency due to STK4 deficiency
Congenital factor VII deficiency
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Congenital pulmonary alveolar proteinosis
Congenital stationary night blindness
Cree leukoencephalopathy
Desmoplastic small round cell tumor
Desquamative interstitial pneumonia
Distal 22q11.2 microdeletion syndrome
Distal hereditary motor neuropathy type 2
Dyschromatosis symmetrica hereditaria
Endocrine-cerebro-osteodysplasia syndrome
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Extraskeletal myxoid chondrosarcoma
Familial congenital mirror movements
Familial hypocalciuric hypercalcemia type 1
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial isolated dilated cardiomyopathy
Familial isolated hypoparathyroidism due to impaired PTH secretion
Familial renal amyloidosis due to Apolipoprotein AI variant
Follicular lymphoma
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Glucocorticoid resistance
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Goldberg-Shprintzen megacolon syndrome
Growth delay due to insulin-like growth factor I resistance
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hereditary cerebral cavernous malformation
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy type 6
Hereditary sensory and autonomic neuropathy type 2
Hyperinsulinism due to HNF1A deficiency
Hypotrichosis simplex
Infant acute respiratory distress syndrome
Infantile Refsum disease
Infantile-onset ascending hereditary spastic paralysis
Intellectual deficit, X-linked, Turner type
Joubert syndrome with renal defect
Juvenile amyotrophic lateral sclerosis
Juvenile primary lateral sclerosis
LEOPARD syndrome
Lethal congenital contracture syndrome type 2
Limited systemic sclerosis
MMEP syndrome
MODY syndrome
Maffucci syndrome
Melanoma of soft part
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Mosaic variegated aneuploidy syndrome
Mucopolysaccharidosis type 4B
Multiple endocrine neoplasia type 4
Narcolepsy without cataplexy
Neonatal adrenoleukodystrophy
Neonatal severe primary hyperparathyroidism
Nephrogenic diabetes insipidus
Nephrogenic syndrome of inappropriate antidiuresis
Nijmegen breakage syndrome-like disorder
Partial acquired lipodystrophy
Periventricular nodular heterotopia
Pilocytic astrocytoma
Primary biliary cirrhosis
Primary systemic amyloidosis
Pseudohypoaldosteronism type 2C
Pulverulent cataract
Retinitis punctata albescens
Severe early-onset axonal neuropathy due to MFN2 deficiency
Spinocerebellar ataxia type 10
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 36
Spondyloepimetaphyseal dysplasia, Pakistani type
Susceptibility to viral and mycobacterial infections
Thrombocytopenia - absent radius
Timothy syndrome
Weaver syndrome
Williams syndrome
Wolf-Hirschhorn syndrome
X-linked intellectual deficit with marfanoid habitus
X-linked lymphoproliferative disease
X-linked non-syndromic intellectual deficit
Zellweger syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Distal myopathy with vocal cord weakness
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
Spinocerebellar ataxia type 12
Budd-Chiari syndrome
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Severe combined immunodeficiency due to DNA-PKcs deficiency
Familial isolated congenital asplenia
Hereditary pheochromocytoma-paraganglioma
Papillary or follicular thyroid carcinoma
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

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

Gene symbol UniProt reference OMIM reference
HNRNPA1 P09651164017
HNRNPA2B1 P22626600124
VCP P55072601023
No signs/symptoms info available.