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22q11.2 deletion syndrome

2 OMIM references -
6 associated genes
98 signs/symptoms

PROTEIN INTERACTIONS: 1

Fatal infantile encephalopathy-pulmonary hypertension syndrome

1 associated gene
No signs/symptoms info

22q11.2 deletion syndrome

Fatal infantile encephalopathy-pulmonary hypertension syndrome

ARVCF	(UniProt - OMIM)	NFU1	(UniProt - OMIM)
COMT	(UniProt - OMIM)
GP1BB	(UniProt - OMIM)
HIRA	(UniProt - OMIM)
TBX1	(UniProt - OMIM)
UFD1L	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HIRA	(0.84)	NFU1

Citations in the biomedical literature:

22q11.2 deletion syndrome		Fatal infantile encephalopathy-pulmonary hypertension syndrome
	Synonym(s): - 22q11DS - CATCH 22 - Cayler cardiofacial syndrome - Conotruncal anomaly face syndrome - DiGeorge sequence - DiGeorge syndrome - Microdeletion 22q11.2 - Monosomy 22q11 - Sedlackova syndrome - Shprintzen syndrome - Takao syndrome - Velocardiofacial syndrome		Synonym(s): - Lipoic acid synthase deficiency

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare immune disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare surgical cardiac disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease - Rare respiratory disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic		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: No OMIM references No MeSH references

22q11.2 deletion syndrome
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Anomaly of the pharynx / pharyngeal anomaly - Aortic arches anomalies - Atrial septal defect / interauricular communication - Autosomal dominant inheritance - Cleft lip and palate - Common arterial trunk / truncal valve - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - Facial dysmorphism - High nasal bridge - Hypotonia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Long / large / bulbous nose - Low set ears / posteriorly rotated ears - Pulmonary valve atresia / stenosis / narrowing - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Telecanthus / canthal dystopy - Tetralogy of Fallot / trilogy of Fallot - Thymic aplasia / hypoplasia - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - Ventricular septal defect / interventricular communication Frequent - Acne / acnea - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Chronic / relapsing otitis - Constipation - Flat cheek bones / malar hypoplasia - Folded helix - Hearing loss / hypoacusia / deafness - Hyperactivity / attention deficit - Hypocalcemia - Hypoparathyroidy - Long face - Multiple caries - Ptosis - Renal / kidney anomalies - Seborrhea / hyperseborrhea / seborrheic dermatitis - Short neck - Small / hypoplastic / adherent / absent ear lobe Occasional - Acute arterial hypertension / hypertensive crisis - Agenesis / hypoplasia / aplasia of kidneys - Anomalies of chest / thorax / trunk - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Arthritis / synovitis / synovial proliferation - Asthma / bronchospasm - Atelectasia / pulmonary collapse - Autism / autistic disoders - Autoimmunity / autoimmune reaction / autoantibodies - Biliary / gallbladder stones / lithiasis / cholecystitis - Cataract / lens opacification - Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome - Craniostenosis / craniosynostosis / sutural synostosis - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Early death / lethality - Enamel anomaly - Encopresis / fecal incontinence - Failure to thrive / difficulties for feeding in infancy / growth delay - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hypertelorism - Hyperthyroidy - Hypospadias / epispadias / bent penis - Hypothyroidy - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intellectual deficit / mental / psychomotor retardation / learning disability - Intestinal / gut / bowel malrotation - Intrauterine growth retardation - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Multicystic kidney / renal dysplasia - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Patella dislocation - Patent ductus arteriosus - Platelet disorders / thrombopathies - Polycystic kidneys - Polydactyly of toes - Psychic / behavioural troubles - Psychosis / schizophrenia / maniac disorder - Purpura / petichiae - Seizures / epilepsy / absences / spasms / status epilepticus - Spina bifida - Splenomegaly - Stillbirth / neonatal death - Strabismus / squint - Thrombocytopenia / thrombopenia - tricuspid valve atresia / stenosis / narrowing - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes - Upper limb polydactyly / hexadactyly - Uterine / uterus / Fallopian tubes anomalies - Varices / varicous veins / venous insufficiency - Vesicorenal / vesicoureteral reflux
Fatal infantile encephalopathy-pulmonary hypertension syndrome
(no data available)