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7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
18 signs/symptoms
Pulverulent cataract
Porphyria cutanea tarda

CRYBB1 HFE
CRYGC UROD
GJA3
GJA8
LIM2
MAF
VIM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VIM
(0.63)
UROD



Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Porphyria cutanea tarda
HFE UROD



Pulverulent cataract
Porphyria cutanea tarda

Synonym(s):
- Dusty cataract

Synonym(s):
- PCT

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
7 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D017119

Porphyria cutanea tarda

Very frequent
- Autosomal dominant inheritance
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Skin photosensitivity
- Thin skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Abnormal scarring / cheloids / hypertrophic scars
- Acute palsy
- Cirrhosis
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Cutaneous edema
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Hirsutism / hypertrichosis / Increased body hair
- Liver / hepatic steatosis
- Obnubilation / coma / lethargia / desorientation
- Storage liver disease


Pulverulent cataract

(no data available)