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

APP GNPTAB
GNPTG


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 3
GNPTAB GNPTG



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Mucolipidosis type 3

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- Pseudo-Hurler polydystrophy

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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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

Mucolipidosis type 3

Very frequent
- Abnormal vertebral size / shape
- Anomalies of ear and hearing
- Autosomal recessive inheritance
- Corneal clouding / opacity / vascularisation
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Facial dysmorphism
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Prominent occiput / occipital bossing
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Visual loss / blindness / amblyopia

Frequent
- Acne / acnea
- Coarse face
- Congenital cardiac anomaly / malformation / cardiopathy
- Inguinal / inguinoscrotal / crural hernia
- Lordosis

Occasional
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Asthenia / fatigue / weakness
- Cardiac valvulopathy
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)