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Mucolipidosis type 3

2 OMIM references -
2 associated genes
23 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

Mucolipidosis type 2

1 OMIM reference -
1 associated gene
29 signs/symptoms

Mucolipidosis type 3

Mucolipidosis type 2

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


COMMON GENES	GNPTAB

Citations in the biomedical literature:

Mucolipidosis type 3		Mucolipidosis type 2
	Synonym(s): - Pseudo-Hurler polydystrophy		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 (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		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		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: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538602


COMMON SIGNS	- Autosomal recessive inheritance - Cardiac valvulopathy - Coarse face - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism

Mucolipidosis type 3		Mucolipidosis type 2
	Very frequent - Abnormal vertebral size / shape - Anomalies of ear and hearing - Corneal clouding / opacity / vascularisation - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Facial dysmorphism - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Prominent occiput / occipital bossing - Restricted joint mobility / joint stiffness / ankylosis - Visual loss / blindness / amblyopia Frequent - Acne / acnea - Congenital cardiac anomaly / malformation / cardiopathy - Inguinal / inguinoscrotal / crural hernia - Lordosis Occasional - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Asthenia / fatigue / weakness - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets		Very frequent - Anomalies of bones / skeletal anomalies - Anomalies of chest / thorax / trunk - 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 - Lipidosis / sulfatidosis - 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 - 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