Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 2
18 OMIM references -
18 associated genes
16 signs/symptoms
Epidermolysis bullosa simplex with mottled pigmentation
Leber congenital amaurosis

KRT14 AIPL1
KRT5 CEP290
CRB1
CRX
GDF6
GUCY2D
IMPDH1
IQCB1
KCNJ13
LCA5
LRAT
NMNAT1
RD3
RDH12
RPE65
RPGRIP1
SPATA7
TULP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT14
KRT5
(0.63)
(0.63)
IQCB1
IQCB1



Citations in the biomedical literature:


Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5
Leber congenital amaurosis
AIPL1 CEP290 CRB1 CRX GDF6 GUCY2D
IMPDH1 IQCB1 KCNJ13 LCA5 LRAT NMNAT1
RD3 RDH12 RPE65 RPGRIP1 SPATA7 TULP1



Epidermolysis bullosa simplex with mottled pigmentation
Leber congenital amaurosis

Synonym(s):
- EBS-MP

Synonym(s):
- Amaurosis congenita of Leber

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535959
External references:
18 OMIM references -
1 MeSH reference: D057130

Epidermolysis bullosa simplex with mottled pigmentation
Leber congenital amaurosis

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium
- Irregular / patchy skin hypopigmentation
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal fingernails
- Bruisability
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma
- Premature ageing



Very frequent
- Autosomal recessive inheritance
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinitis pigmentosa / retinal pigmentary changes
- Visual loss / blindness / amblyopia

Frequent
- Abnormal ERG / electroretinogram / electroretinography
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Encephalocele / exencephaly
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypotonia
- Keratoconus / keratoglobus
- Nystagmus
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability