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Familial melanoma
8 OMIM references -
6 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
Fabry disease
1 OMIM reference -
1 associated gene
66 signs/symptoms
Familial melanoma
Fabry disease

CDK4
(UniProt - OMIM)
 GLA
(UniProt - OMIM)
CDKN2A
(UniProt - OMIM)
CDKN2B
(UniProt - OMIM)
CDKN2D
(UniProt - OMIM)
MC1R
(UniProt - OMIM)
TERT
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TERT
(0.63)
GLA


Citations in the biomedical literature:


Familial melanoma
CDK4 CDKN2A CDKN2B CDKN2D MC1R TERT

Fabry disease
GLA



Familial melanoma
Fabry disease

Synonym(s):
(no synonyms)

Synonym(s):
- Alpha-galactosidase A deficiency
- Anderson-Fabry disease
- Angiokeratoma corporis diffusum
- Diffuse angiokeratoma
- FD
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
- Rare skin disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: x-linked recessive
External references:
8 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D000795
Familial melanoma
Fabry disease

Very frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Melanoma

Frequent
- Anomalies of the lymphatic system
- Dry / squaly skin / exfoliation
- Excessive freckling
- Hair and scalp anomalies

Occasional
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Extrapyramidal syndrome
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Retinopathy


Very frequent
- Acute abdominal pain / colic
- Anaemia
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Conjunctival telangiectasia
- Corneal clouding / opacity / vascularisation
- Corneal dystrophy
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Follicular / erythematous / edematous papules / milium
- Hearing loss / hypoacusia / deafness
- Heart / cardiac failure
- Hematuria / microhematuria
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Malabsorption / chronic diarrhea / steatorrhea
- Myalgia / muscular pain
- Nephrotic syndrome
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Renal failure
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of mucosae
- Telangiectasiae of the skin
- Transient cerebral ischemia / stroke
- Vascular anomalies of skin / mucosae
- X-linked recessive inheritance

Frequent
- Anorexia
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Cataract / lens opacification
- Coarse face
- Emphysema
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Lipidosis / sulfatidosis
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Proteinuria
- Psychic / behavioural troubles
- Renal disease / nephropathy
- Renal tubular defect / tubulopathy
- Short stature / dwarfism / nanism
- Thick lips

Occasional
- Angor pectoris / myocardial infarction
- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Chronic arterial hypertension
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Diabetes insipidus
- Dizziness
- Endocardium anomalies / fibroelastosis / endocarditis
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fever / chilling
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperesthesia / allodynia / hyperalgia
- Lymphedema
- Myocardium anomalies / myocarditis
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Psychic / psychomotor regression / dementia / intellectual decline
- Renal glomerular defect / glomerulopathy
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss