Cytoscape Web
Click node...

6 OMIM references -
6 associated genes
121 connected diseases
3 signs/symptoms
Disease Type of connection
Inflammatory myofibroblastic tumor
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Feingold syndrome type 1
Haddad syndrome
Ondine syndrome
Familial pancreatic carcinoma
Essential thrombocythemia
Precursor B-cell acute lymphoblastic leukemia
Autosomal dominant nonsyndromic intellectual deficit
Precursor T-cell acute lymphoblastic leukemia
Familial prostate cancer
Dyskeratosis congenita
Distal 22q11.2 microdeletion syndrome
Acute promyelocytic leukemia
Left ventricular noncompaction
Hereditary pheochromocytoma-paraganglioma
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Giant cell glioblastoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Ear-patella-short stature syndrome
Amyotrophic lateral sclerosis
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Autoimmune polyendocrinopathy type 1
Burkitt lymphoma
Severe combined immunodeficiency due to DNA-PKcs deficiency
Bloom syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Spinocerebellar ataxia type 14
Estrogen resistance syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2H
Bardet-Biedl syndrome
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Acute necrotizing encephalopathy of childhood
Autosomal agammaglobulinemia
Autosomal dominant hyper-IgE syndrome
Autosomal dominant spastic paraplegia type 13
Budd-Chiari syndrome
Chuvash erythrocytosis
Familial acute necrotizing encephalopathy
Familial isolated dilated cardiomyopathy
Familial medullary thyroid carcinoma
Familial melanoma
Familial thoracic aortic aneurysm and aortic dissection
Familial thrombocytosis
Fibronectin glomerulopathy
Fuchs endothelial corneal dystrophy
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Hypotrichosis simplex of the scalp
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Isolated adermatoglyphia
MODY syndrome
Matthew-Wood syndrome
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Microcephalic primordial dwarfism, Alazami type
Myelofibrosis with myeloid metaplasia
Pallister-Hall syndrome
Papillary or follicular thyroid carcinoma
Partial pancreatic agenesis
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Permanent neonatal diabetes mellitus
Pitt-Hopkins syndrome
Polycythemia vera
Primary sclerosing cholangitis
Richieri Costa-Pereira syndrome
SHORT syndrome
Von Hippel-Lindau disease
Woolly hair
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
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
Capillary malformation - arteriovenous malformation
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 arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
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
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Parkes Weber syndrome
Progeria-associated arthropathy
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
- Neural crest tumor
- Sympathoblastoma

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

Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: child / adolescent
Type of inheritance: sporadic
External references:
6 OMIM references -
2 MeSH references: C536408 / D009447

Very frequent
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Organic acid metabolism anomalies

- Autosomal dominant inheritance