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Mucolipidosis type 2
1 OMIM reference -
1 associated gene
9 connected diseases
29 signs/symptoms
Disease Type of connection
Mucolipidosis type 3
Distal 22q11.2 microdeletion syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- I-cell disease
- N-acetyl-glucosamine 1-phosphotransferase deficiency

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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 -
1 MeSH reference: C538602

Gene symbol UniProt reference OMIM reference
GNPTAB Q3T906607840
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