ODCs

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2q37 microdeletion syndrome

1 OMIM reference -
1 associated gene
52 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 11

Alpha-thalassemia - X-linked intellectual deficit syndrome

1 OMIM reference -
1 associated gene
55 signs/symptoms

2q37 microdeletion syndrome

Alpha-thalassemia - X-linked intellectual deficit syndrome

HDAC4

(UniProt - OMIM)

ATRX

(UniProt - OMIM)


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

Citations in the biomedical literature:

2q37 microdeletion syndrome		Alpha-thalassemia - X-linked intellectual deficit 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): - ATR-X 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 endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare hematologic disease - Rare neurologic disease - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538317		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Anteverted nares / nostrils - Autism / autistic disoders - Clinodactyly of fifth finger - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Mid-facial hypoplasia / short / small midface - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly - Short stature / dwarfism / nanism

2q37 microdeletion syndrome		Alpha-thalassemia - X-linked intellectual deficit syndrome
	Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Round face Frequent - Abnormally placed nipples - Absent / decreased / thin eyebrows - Congenital cardiac anomaly / malformation / cardiopathy - Deepset eyes / enophthalmos - Depressed nasal bridge - Downturned mouth - Eczema - Frontal bossing / prominent forehead - Generalized obesity - High arched eyebrows - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Metacarpal anomalies / Archibald's sign - 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 - Conductive deafness / hearing loss - Diaphragmatic hernia / defect / agenesis - Gastric / pyloric stenosis - Hyperactivity / attention deficit - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Laryngomalacia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Multicystic kidney / renal dysplasia - Nephroblastoma / Wilms tumor - Obsessive-compulsive disorder - Short neck - Sleep and vigilance disorders - Tics / stereotypias - Tracheomalacia / tracheobronchomalacia		Very frequent - Ambiguous genitalia - Face / facial anomalies - Flat face - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hypertelorism - Large fontanelle / delayed fontanelle closure - Male pseudohermaphrodism / lack of virilisation - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Structural anomalies of the genital system - Undescended / ectopic testes / cryptorchidia / unfixed testes - X-linked recessive inheritance Frequent - Epicanthic folds - Everted lower lip - Flattened nose - Hemoglobinosis / hemoglobinopathy - Macroglossia / tongue protrusion / proeminent / hypertrophic - Micropenis / small penis / agenesis - Talipes-varus / metatarsal varus - Telecanthus / canthal dystopy - Thick lips Occasional - Anaemia - Anomalies of teeth and dentition - Auto-aggressivity / auto-mutilation - Colonic / intestinal volvulus - Constipation - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Death in infancy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Encephalitis - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hemiplegia / diplegia / hemiparesia / limb palsy - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Movement disorder - Myopia - Nausea / vomiting / regurgitation / merycism / hyperemesis - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Recurrent urinary infections - Renal / kidney anomalies - Restricted joint mobility / joint stiffness / ankylosis - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia