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8 OMIM references -
6 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Familial melanoma
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

CDK4 APP
CDKN2A
CDKN2B
CDKN2D
MC1R
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDK4
CDKN2B
CDKN2D
(0.56)
(0.56)
(0.56)
APP
APP
APP



Citations in the biomedical literature:


Familial melanoma
CDK4 CDKN2A CDKN2B CDKN2D MC1R TERT

Hereditary cerebral hemorrhage with amyloidosis, Iowa type
APP



Familial melanoma
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Iowa type

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
8 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Familial melanoma
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

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
- Breast neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Extrapyramidal syndrome
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Retinopathy


Very frequent
- Abnormal gait
- Cerebral vascular anomalies
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Intracranial / cerebral / meningeal hemorrhage
- Myoclonus / fasciculations
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia