ODCs

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Mucolipidosis type 2

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1

Hereditary cerebral hemorrhage with amyloidosis, Iowa type

1 OMIM reference -
1 associated gene
10 signs/symptoms

Mucolipidosis type 2

Hereditary cerebral hemorrhage with amyloidosis, Iowa type

GNPTAB

(UniProt - OMIM)

APP

(UniProt - OMIM)


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

Citations in the biomedical literature:

Mucolipidosis type 2		Hereditary cerebral hemorrhage with amyloidosis, Iowa type
	Synonym(s): - I-cell disease - N-acetyl-glucosamine 1-phosphotransferase deficiency		Synonym(s): - HCHWA, Iowa 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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

Mucolipidosis type 2		Hereditary cerebral hemorrhage with amyloidosis, Iowa type
	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		Very frequent - Abnormal gait - Autosomal dominant inheritance - Cerebral vascular anomalies - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Intracranial / cerebral / meningeal hemorrhage - Myoclonus / fasciculations - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Transient cerebral ischemia / stroke - Troubles of memory / amnesia / hypermnesia