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8 OMIM references -
6 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial melanoma
Methylcobalamin deficiency type cblG

CDK4 MTR
CDKN2A
CDKN2B
CDKN2D
MC1R
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN2A
(0.68)
MTR



Citations in the biomedical literature:


Familial melanoma
CDK4 CDKN2A CDKN2B CDKN2D MC1R TERT

Methylcobalamin deficiency type cblG
MTR



Familial melanoma
Methylcobalamin deficiency type cblG

Synonym(s):
(no synonyms)

Synonym(s):
- Functional methionine synthase deficiency type cblG

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
- Rare renal 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 / 1 000 000
Average age onset: variable
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

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


Methylcobalamin deficiency type cblG

(no data available)