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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
29 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Mucolipidosis type 2

APP GNPTAB


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Mucolipidosis type 2
GNPTAB



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Mucolipidosis type 2

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- I-cell disease
- N-acetyl-glucosamine 1-phosphotransferase deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538602

Mucolipidosis type 2

Very frequent
- Anomalies of bones / skeletal anomalies
- Anomalies of chest / thorax / trunk
- Autosomal recessive inheritance
- Coarse face
- Corneal ulceration / perforation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatomegaly / liver enlargement (excluding storage disease)
- Herniae
- Hirsutism / hypertrichosis / Increased body hair
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lipidosis / sulfatidosis
- Short stature / dwarfism / nanism
- Splenomegaly
- Structural anomalies of the nervous system

Frequent
- Anteverted nares / nostrils
- Depressed nasal bridge
- Epicanthic folds
- Long philtrum
- Thin skin
- Tight skin / lack of elasticity

Occasional
- Broad alveolar ridge
- Cardiac valvulopathy
- Cavernous / tuberous hemangioma
- Corneal dystrophy
- Heart / cardiac failure
- Kyphosis
- Repeat respiratory infections
- Weight loss / loss of appetite / break in weight curve / general health alteration
- Wrist / carpal anomalies


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)