ODCs

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Mucolipidosis type 3

2 OMIM references -
2 associated genes
23 signs/symptoms

PROTEIN INTERACTIONS: 1

Hereditary cerebral hemorrhage with amyloidosis, Italian type

1 OMIM reference -
1 associated gene
7 signs/symptoms

Mucolipidosis type 3

Hereditary cerebral hemorrhage with amyloidosis, Italian type

GNPTAB	(UniProt - OMIM)		APP	(UniProt - OMIM)
GNPTG	(UniProt - OMIM)


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

Citations in the biomedical literature:

Mucolipidosis type 3		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Synonym(s): - Pseudo-Hurler polydystrophy		Synonym(s): - HCHWA, Italian type

	Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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

Mucolipidosis type 3		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	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		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 - Seizures / epilepsy / absences / spasms / status epilepticus