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8 OMIM references -
6 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
13 signs/symptoms
Familial melanoma
Hereditary sensory and autonomic neuropathy with spastic paraplegia

CDK4 CCT5
CDKN2A
CDKN2B
CDKN2D
MC1R
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDK4
TERT
(0.63)
(0.63)
CCT5
CCT5



Citations in the biomedical literature:


Familial melanoma
CDK4 CDKN2A CDKN2B CDKN2D MC1R TERT

Hereditary sensory and autonomic neuropathy with spastic paraplegia
CCT5



Familial melanoma
Hereditary sensory and autonomic neuropathy with spastic paraplegia

Synonym(s):
(no synonyms)

Synonym(s):
- HSAN with spastic paraplegia

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the nervous system -

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 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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

Familial melanoma
Hereditary sensory and autonomic neuropathy with spastic paraplegia

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
- Abnormal gait
- Auto-aggressivity / auto-mutilation
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dysautonomia / autonomous nervous sytem anomalies
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Insensitivity to pain
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Peripheral neuropathy

Frequent
- Nerve conduction abnormality

Occasional
- Osteomyelitis / osteitis / periostitis / spondylodisciitis