ODCs

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Distal 22q11.2 microdeletion syndrome

1 OMIM reference -
3 associated genes
60 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 10

SHORT syndrome

1 OMIM reference -
1 associated gene
40 signs/symptoms

Distal 22q11.2 microdeletion syndrome

SHORT syndrome

BCR	(UniProt - OMIM)	PIK3R1	(UniProt - OMIM)
CRKL	(UniProt - OMIM)
MAPK1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CRKL BCR	(0.89) (0.56)	PIK3R1 PIK3R1

Citations in the biomedical literature:

Distal 22q11.2 microdeletion syndrome		SHORT syndrome
	Synonym(s): - Distal del(22)(q11.2) - Distal monosomy 22q11.2		Synonym(s): - Aarskog-Ose-Pande syndrome - Lipodystrophy - Rieger anomaly - diabetes - Rieger anomaly - partial lipodystrophy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537327


COMMON SIGNS	- Clinodactyly of fifth finger - Deepset eyes / enophthalmos - Flat cheek bones / malar hypoplasia - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Sensorineural deafness / hearing loss - Short hand / brachydactyly - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Distal 22q11.2 microdeletion syndrome		SHORT syndrome
	Very frequent - High arched eyebrows - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Philtrum flat / large / featureless / absent cupidon bows - Prematurity Frequent - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Common arterial trunk / truncal valve - 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 - Gastric / pyloric stenosis - High nasal bridge - High vaulted / narrow palate - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Immunodeficiency / increased susceptibility to infections / recurrent infections - Long face - Long hand / arachnodactyly - Lordosis - Microstomia / little mouth - Obsessive-compulsive disorder - Oculomotor apraxia / dyspraxia - Recurrent urinary infections - Repeat respiratory infections - Seizures / epilepsy / absences / spasms / status epilepticus - 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 - Aniridia / iris hypoplasia - Anterior chamber anomaly - Autosomal dominant inheritance Frequent - Abnormal fat distribution / lipodystrophy - Anomalies of teeth and dentition - Complete / partial microdontia - Diabetes mellitus - Enamel anomaly - Face / facial anomalies - Glaucoma - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Insulin resistance - Megalocornea - Mid-facial hypoplasia / short / small midface - Pupillary anomalies / mydriasis / myosis / tonic pupil - Rippled skin - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Broad nasal root - Corneal clouding / opacity / vascularisation - Embryotoxon - Frontal bossing / prominent forehead - Hypertelorism - Iridocorneal dysgenesis / iridogoniodysgenesis - Micrognathia / retrognathia / micrognathism / retrognathism - Myotonia - Prominent supraorbital ridge - Telecanthus / canthal dystopy - Triangular face - Upper limb polydactyly / hexadactyly - Urinary / renal lithiasis / kidney stones / nephritic colic