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Capillary malformation - arteriovenous malformation
1 OMIM reference -
1 associated gene
93 connected diseases
No signs/symptoms info
Disease Type of connection
Parkes Weber syndrome
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Costello syndrome
Linear nevus sebaceus syndrome
Phakomatosis pigmentokeratotica
Giant cell glioblastoma
Gliosarcoma
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Familial prostate cancer
Huntington disease
Idiopathic hypereosinophilic syndrome
Infantile myofibromatosis
Juvenile Huntington disease
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Combined immunodeficiency due to ZAP70 deficiency
Cutaneous mastocytoma
Gastrointestinal stromal tumor
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Piebaldism
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Growth delay due to insulin-like growth factor I resistance
Severe combined immunodeficiency due to LCK deficiency
Joubert syndrome with orofaciodigital defect
Familial capillary hemangioma
X-linked epilepsy - learning disabilities - behavior disorders
Complete androgen insensitivity syndrome
Familial hypospadias
Familial papillary renal cell carcinoma
Hepatocellular carcinoma, childhood-onset
Kennedy disease
Partial androgen insensitivity syndrome
Amyotrophic lateral sclerosis
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Bardet-Biedl syndrome
Boomerang dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Isolated focal cortical dysplasia type IIb
Lethal congenital contracture syndrome type 2
Lymphangioleiomyomatosis
Muscle filaminopathy
Spondylocarpotarsal synostosis
Tuberous sclerosis
Weaver syndrome
Autosomal agammaglobulinemia
SHORT syndrome
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
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
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Familial medullary thyroid carcinoma
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Papillary or follicular thyroid carcinoma
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Autosomal dominant spastic paraplegia type 13
Distal 22q11.2 microdeletion syndrome
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Posterior polar cataract
Total congenital cataract
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Inflammatory myofibroblastic tumor
Neuroblastoma
Synonym(s):
- CM-AVM
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RASA1 P20936139150
No signs/symptoms info available.