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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
14 signs/symptoms
Obesity due to pro-opiomelanocortin deficiency
Large congenital melanocytic nevus

POMC MC1R
NRAS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POMC
(0.86)
MC1R



Citations in the biomedical literature:


Obesity due to pro-opiomelanocortin deficiency
POMC
Large congenital melanocytic nevus
MC1R NRAS



Obesity due to pro-opiomelanocortin deficiency
Large congenital melanocytic nevus

Synonym(s):
- POMC deficiency

Synonym(s):
- Congenital pigmented nevus
- GMN
- Giant congenital melanocytic nevus
- Giant pigmented hairy nevus
- LCMN

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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

Large congenital melanocytic nevus

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Scalp cyst / giant nevus

Frequent
- Hirsutism / hypertrichosis / Increased body hair
- Neoplasms / tumors

Occasional
- Hydrocephaly
- Irregular / patchy skin hypopigmentation
- Melanoma
- Pruritus / itching
- Sarcoma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling


Obesity due to pro-opiomelanocortin deficiency

(no data available)