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Spastic paraplegia - Paget disease of bone
1 associated gene
243 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Giant cell glioblastoma
Split hand-split foot malformation
Young adult-onset Parkinsonism
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Retinitis pigmentosa
Common variable immunodeficiency
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Familial pancreatic carcinoma
22q11.2 deletion syndrome
Li-Fraumeni syndrome
Alveolar soft-part sarcoma
Translocation renal cell carcinoma
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Idiopathic pulmonary fibrosis
17q11 microdeletion syndrome
Noonan syndrome
Essential thrombocythemia
Acute promyelocytic leukemia
Cataract - intellectual deficit - hypogonadism
Fanconi anemia
Micro syndrome
Multiple endocrine neoplasia type 1
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
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
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
Cowden syndrome
Proteus syndrome
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Baraitser-Winter syndrome
Charcot-Marie-Tooth disease type 4D
Developmental malformations - deafness - dystonia
Frontotemporal dementia with motor neuron disease
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Homozygous familial hypercholesterolemia
Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
17q11.2 microduplication syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Giant cell arteritis
Granulomatosis with polyangiitis
Juvenile myelomonocytic leukemia
Juvenile rheumatoid factor-negative polyarthritis
Kennedy disease
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
17p13.3 microduplication syndrome
3M syndrome
ALDH18A1-related De Barsy syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Alpha-1-antitrypsin deficiency
Apolipoprotein A-I deficiency
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
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 Emery-Dreifuss muscular dystrophy
Autosomal dominant hypocalcemia
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant macrothrombocytopenia
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant spastic paraplegia type 13
Autosomal dominant spastic paraplegia type 4
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Bartter syndrome with hypocalcemia
Brugada syndrome
Bullous pemphigoid
CLN4A disease
CLN6 disease
Cardiofaciocutaneous syndrome
Charcot-Marie-Tooth disease type 2B1
Chorioretinopathy, Birdshot type
Chronic mucocutaneous candidiasis
Chronic respiratory distress with surfactant metabolism deficiency
Combined deficiency of factor V and factor VIII
Congenital factor VII deficiency
Congenital muscular dystrophy due to LMNA mutation
Congenital pulmonary alveolar proteinosis
Congenital stationary night blindness
Desquamative interstitial pneumonia
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Distal 17p13.3 microdeletion syndrome
Distal 22q11.2 microdeletion syndrome
Distal hereditary motor neuropathy type 2
Endocrine-cerebro-osteodysplasia syndrome
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Estrogen resistance syndrome
Extraskeletal Ewing sarcoma
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
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 infantile bilateral striatal necrosis
Familial isolated dilated cardiomyopathy
Familial isolated hypoparathyroidism due to impaired PTH secretion
Familial melanoma
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Familial renal amyloidosis due to Apolipoprotein AI variant
Fibronectin glomerulopathy
Follicular lymphoma
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Glycogen storage disease due to liver phosphorylase kinase deficiency
Goldberg-Shprintzen megacolon syndrome
Heart-hand syndrome, Slovenian type
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
Hutchinson-Gilford progeria syndrome
Hyperinsulinism due to HNF1A deficiency
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
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Leber congenital amaurosis
Left ventricular noncompaction
Lethal restrictive dermopathy
Limited systemic sclerosis
MMEP syndrome
MODY syndrome
Maffucci syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Miller-Dieker 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
Partial acquired lipodystrophy
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Periventricular nodular heterotopia
Pilocytic astrocytoma
Precursor T-cell acute lymphoblastic leukemia
Primary biliary cirrhosis
Primary systemic amyloidosis
Progeria-associated arthropathy
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2E
Pulverulent cataract
Retinitis punctata albescens
Senior-Loken syndrome
Severe early-onset axonal neuropathy due to MFN2 deficiency
Spinocerebellar ataxia type 10
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
Susceptibility to viral and mycobacterial infections
Timothy syndrome
Weaver syndrome
Williams syndrome
Zellweger syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Budd-Chiari syndrome
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
(no synonyms)

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

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
VCP P55072601023
No signs/symptoms info available.