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Familial multiple nevi flammei
1 OMIM reference -
1 associated gene
26 connected diseases
25 signs/symptoms
Disease Type of connection
Sturge-Weber syndrome
Bleeding diathesis due to thromboxane synthesis deficiency
Early infantile epileptic encephalopathy
Malignant migrating partial seizures of infancy
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
CLOVE syndrome
Cowden syndrome
Hemimegalencephaly
Hereditary nonpolyposis colon cancer
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Autosomal agammaglobulinemia
SHORT syndrome
Acute promyelocytic leukemia
CLN1 disease
Renal tubular dysgenesis of genetic origin
Athyreosis
Familial capillary hemangioma
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Prune belly syndrome
Thyroid hypoplasia
Synonym(s):
- Familial multiple port-wine stains
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GNAQ P50148600998
Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Irregular / in bands / reticular skin hyperpigmentation
- Macules

Frequent
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium

Occasional
- Anomalies of bones / skeletal anomalies
- Anomalies of spine, vertebrae and pelvis
- Cardiac rhythm disorder / arrhythmia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cranial nerve anomalies
- Cutaneous edema
- Glaucoma
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Intracranial / cerebral / meningeal hemorrhage
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Lower limb segmental anomalies
- Pulmonary thromboembolism
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Upper limb segmental anomalies
- Varices / varicous veins / venous insufficiency
- Venous thrombosis / phlebitis / thrombophlebitis