ODCs

Click node...

Distal 22q11.2 microdeletion syndrome

1 OMIM reference -
3 associated genes
60 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Tuberous sclerosis

2 OMIM references -
2 associated genes
44 signs/symptoms

Distal 22q11.2 microdeletion syndrome

Tuberous sclerosis

BCR	(UniProt - OMIM)	TSC1	(UniProt - OMIM)
CRKL	(UniProt - OMIM)	TSC2	(UniProt - OMIM)
MAPK1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MAPK1	(0.88)	TSC2

Citations in the biomedical literature:

Distal 22q11.2 microdeletion syndrome		Tuberous sclerosis
	Synonym(s): - Distal del(22)(q11.2) - Distal monosomy 22q11.2		Synonym(s): - Bourneville syndrome - Tuberous sclerosis complex

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D014402


COMMON SIGNS	- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus

Distal 22q11.2 microdeletion syndrome		Tuberous sclerosis
	Very frequent - High arched eyebrows - Insterstitial / subtelomeric microdeletion / deletion - Philtrum flat / large / featureless / absent cupidon bows - Prematurity - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - 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 - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - 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 - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - 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 - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Hyperextensible joints / articular hyperlaxity - Immunodeficiency / increased susceptibility to infections / recurrent infections - Inguinal / inguinoscrotal / crural hernia - Long face - Long hand / arachnodactyly - Lordosis - Microstomia / little mouth - Obsessive-compulsive disorder - Oculomotor apraxia / dyspraxia - Recurrent urinary infections - Repeat respiratory infections - 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		Very frequent - Adenoma sebaceum - Autosomal dominant inheritance - Cutaneous neurofibromas / facial angiofibromas / Koenen tumors - EEG anomalies - Follicular / erythematous / edematous papules / milium - Pedunculated skin lesions - Prominent occiput / occipital bossing Frequent - Cafe-au-lait spot - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Irregular / patchy skin hypopigmentation - Macules - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Psychic / behavioural troubles - Retinal hamartoma - Subcutaneous nodules / lipomas / tumefaction / swelling - Ungual / paraungual fibromas (fingernails) - Ungual / parungual fibromas (toenails) Occasional - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Arterial aneurism (excluding aorta) - Cardiac rhythm disorder / arrhythmia - Coloboma of iris - Corpus callosum / septum pellucidum total / partial agenesis - Cranial hypertension - Emphysema - Enamel anomaly - Gingivitis - Heart / cardiac failure - Heart / cardiac tumor - Hypothyroidy - Intracranial / cerebral calcifications - Kidney / renal neoplasm / tumor / carcinoma / cancer - Lymphangioma / lymphatic malformations - Macrodactyly / fingers hypertrophy / megalodactyly (hand) - Polycystic kidneys - Precocious puberty - Renal failure - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Structural anomalies of the liver and the biliary tract - Structural anomalies of the pancreas - Structural anomalies of the respiratory system and diaphragm - Visceral angiomatosis (excluding skin)