ODCs

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Mucolipidosis type 3

2 OMIM references -
2 associated genes
23 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7

Distal 22q11.2 microdeletion syndrome

1 OMIM reference -
3 associated genes
60 signs/symptoms

Mucolipidosis type 3

Distal 22q11.2 microdeletion syndrome

GNPTAB	(UniProt - OMIM)	BCR	(UniProt - OMIM)
GNPTG	(UniProt - OMIM)	CRKL	(UniProt - OMIM)
		MAPK1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GNPTAB	(0.63)	MAPK1

Citations in the biomedical literature:

Mucolipidosis type 3		Distal 22q11.2 microdeletion syndrome
	Synonym(s): - Pseudo-Hurler polydystrophy		Synonym(s): - Distal del(22)(q11.2) - Distal monosomy 22q11.2

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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


COMMON SIGNS	- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Lordosis - Short stature / dwarfism / nanism

Mucolipidosis type 3		Distal 22q11.2 microdeletion syndrome
	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 - 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 - Coarse face - Congenital cardiac anomaly / malformation / cardiopathy Occasional - Asthenia / fatigue / weakness - Cardiac valvulopathy - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets		Very frequent - High arched eyebrows - Insterstitial / subtelomeric microdeletion / deletion - Philtrum flat / large / featureless / absent cupidon bows - Prematurity - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Clinodactyly of fifth finger - Common arterial trunk / truncal valve - Deepset eyes / enophthalmos - External ear anomalies - Flat foot - Intrauterine growth retardation - Microcephaly - Pointed chin - Thin / hypoplastic ala nasi - Thin / retracted lips Occasional - Ankyloglossia / lingual synechiae - Aortic root dilatation / dilation / aneurysm - Atrial septal defect / interauricular communication - Blepharophimosis / short palpebral fissures - Bowed diaphysis / diaphyses / long bones - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - Camptodactyly of some fingers - Choanal atresia - Encopresis / fecal incontinence - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - Flat cheek bones / malar hypoplasia - Gastric / pyloric stenosis - High nasal bridge - High vaulted / narrow palate - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Hyperextensible joints / articular hyperlaxity - Immunodeficiency / increased susceptibility to infections / recurrent infections - Long face - Long hand / arachnodactyly - Microstomia / little mouth - Obsessive-compulsive disorder - Oculomotor apraxia / dyspraxia - Recurrent urinary infections - Repeat respiratory infections - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss - Short hand / brachydactyly - Syndactyly of toes - Terminal / third phalangeal bone of fingers hypoplasia - Tics / stereotypias - Ulnar deviation of fingers - Ventricular septal defect / interventricular communication - Wide space between 1st-2nd toes