ODCs

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2q37 microdeletion syndrome

1 OMIM reference -
1 associated gene
52 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 11

Mosaic variegated aneuploidy syndrome

2 OMIM references -
4 associated genes
63 signs/symptoms

2q37 microdeletion syndrome

Mosaic variegated aneuploidy syndrome

HDAC4	(UniProt - OMIM)	BUB1	(UniProt - OMIM)
		BUB1B	(UniProt - OMIM)
		BUB3	(UniProt - OMIM)
		CEP57	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HDAC4	(0.63)	BUB1B

Citations in the biomedical literature:

2q37 microdeletion syndrome		Mosaic variegated aneuploidy syndrome
	Synonym(s): - Albright hereditary osteodystrophy 3 - Albright hereditary osteodystrophy-like syndrome - Brachydactyly-intellectual deficit - Del(2)(q37) - Deletion 2q37 - Deletion 2q37-qter - Monosomy 2q37-qter		Synonym(s): - Warburton-Anyane-Yeboa syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C538317		External references: 2 OMIM references - 1 MeSH reference: C536987


COMMON SIGNS	- Clinodactyly of fifth finger - Congenital cardiac anomaly / malformation / cardiopathy - Frontal bossing / prominent forehead - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Multicystic kidney / renal dysplasia - Nephroblastoma / Wilms tumor - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism

2q37 microdeletion syndrome		Mosaic variegated aneuploidy syndrome
	Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Mid-facial hypoplasia / short / small midface - Round face Frequent - Abnormally placed nipples - Absent / decreased / thin eyebrows - Anteverted nares / nostrils - Deepset eyes / enophthalmos - Depressed nasal bridge - Downturned mouth - Eczema - Generalized obesity - High arched eyebrows - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Metacarpal anomalies / Archibald's sign - Psychic / behavioural troubles - Short hand / brachydactyly - Simian crease / transverse / unique palmar crease - Small foot - Small hand / acromicria - Supernumerary nipples / polythelia - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Thick columella - Thin / hypoplastic ala nasi - Thin / retracted lips - Umbilical hernia - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Autism / autistic disoders - Conductive deafness / hearing loss - Diaphragmatic hernia / defect / agenesis - Gastric / pyloric stenosis - Hyperactivity / attention deficit - Laryngomalacia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Obsessive-compulsive disorder - Short neck - Sleep and vigilance disorders - Tics / stereotypias - Tracheomalacia / tracheobronchomalacia		Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Ascitis - Autosomal recessive inheritance - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Dandy-Walker anomaly - Dilated cerebral ventricles without hydrocephaly - Epicanthic folds - Glaucoma - Increased nuchal translucency - Micrognathia / retrognathia / micrognathism / retrognathism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Polyhydramnios Frequent - Anomalies of eyes and vision - Triangular face Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Acute leukemia - Ambiguous genitalia - Anomalies of bones / skeletal anomalies - Anomalies of ear and hearing - Apnea / sleep apnea - Atrial septal defect / interauricular communication - Cafe-au-lait spot - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Colon neoplasm / tumor / carcinoma / cancer - Corpus callosum / septum pellucidum total / partial agenesis - Digestive neoplasm / tumor / carcinoma / cancer - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Duodenal atresia / stenosis / megaduodenum - Early death / lethality - Estomach / gastric neoplasm / tumor / carcinoma / cancer - Failure to thrive / difficulties for feeding in infancy / growth delay - Flattened nose - High forehead - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypothyroidy - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intrauterine growth retardation - Long / large / bulbous nose - Low set ears / posteriorly rotated ears - Myelodysplastic syndrome - Neoplasms / tumors - Osteolysis / osteoclasia / bone destruction / erosions - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Polyposis of the bowel / colon / intestine - Skull / cranial anomalies - Sloping forehead - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Upper limb segmental anomalies - Vaginal / vulvar neoplasm / tumor / carcinoma / cancer