ODCs

Click node...

Fucosidosis

1 OMIM reference -
1 associated gene
35 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Hereditary cerebral hemorrhage with amyloidosis, Italian type

1 OMIM reference -
1 associated gene
7 signs/symptoms

Fucosidosis

Hereditary cerebral hemorrhage with amyloidosis, Italian type

FUCA1

(UniProt - OMIM)

APP

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FUCA1	(0.56)	APP

Citations in the biomedical literature:

Fucosidosis		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Synonym(s): - Alpha-L-fucosidase deficiency		Synonym(s): - HCHWA, Italian type

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

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

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

	External references: 1 OMIM reference - 1 MeSH reference: D005645		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Seizures / epilepsy / absences / spasms / status epilepticus

Fucosidosis		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Brachycephaly / flat occiput - Coarse face - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Facial dysmorphism - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperhidrosis / increased sweating - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypothyroidy - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Lipoatrophy - Motor deficit / trouble - Mucopolysacchariduria - Vascular anomalies of skin / mucosae Frequent - Corneal clouding / opacity / vascularisation - Gallbladder / common bile duct anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Repeat respiratory infections - Splenomegaly - Storage liver disease - Structural anomalies of the cardio-circulatory system Occasional - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of teeth and dentition - Cardiomegaly - Nails anomalies - Pyramidal syndrome		Very frequent - Autosomal dominant inheritance - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Transient cerebral ischemia / stroke Frequent - Obnubilation / coma / lethargia / desorientation - Psychic / psychomotor regression / dementia / intellectual decline