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Distal 17p13.3 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 2

Tuberous sclerosis

2 OMIM references -
2 associated genes
44 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Tuberous sclerosis

YWHAE	(UniProt - OMIM)		TSC1	(UniProt - OMIM)
			TSC2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE YWHAE	(0.81) (0.76)	TSC2 TSC1

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Tuberous sclerosis
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		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: No OMIM references No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D014402

Tuberous sclerosis
	Very frequent - Adenoma sebaceum - Autosomal dominant inheritance - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - 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 - Intellectual deficit / mental / psychomotor retardation / learning disability - Irregular / patchy skin hypopigmentation - Macules - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Psychic / behavioural troubles - Retinal hamartoma - Seizures / epilepsy / absences / spasms / status epilepticus - 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)
Distal 17p13.3 microdeletion syndrome
(no data available)