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Mucolipidosis type 3
2 OMIM references -
2 associated genes
9 connected diseases
23 signs/symptoms
Disease Type of connection
Mucolipidosis type 2
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):
- Pseudo-Hurler polydystrophy
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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
GNPTAB Q3T906607840
GNPTG Q9UJJ9607838
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