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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
5 OMIM references -
3 associated genes
13 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Waardenburg syndrome type 2

APP MITF
SNAI2
SOX10


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
APP
(0.56)
(0.56)
MITF
SNAI2



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Waardenburg syndrome type 2
MITF SNAI2 SOX10



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Waardenburg syndrome type 2

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
1 MeSH reference: C536463

Waardenburg syndrome type 2

Very frequent
- Autosomal dominant inheritance
- Decreased hair pigmentation / hypopigmentation of hair
- Hearing loss / hypoacusia / deafness
- Heterochromia / mixed colouring of iris
- Premature greying of hair
- Sensorineural deafness / hearing loss

Frequent
- Irregular / patchy skin hypopigmentation
- White forelock / piebaldism

Occasional
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Ptosis
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Renal / kidney anomalies
- Telecanthus / canthal dystopy


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)