ODCs

Click node...

17p13.3 microduplication syndrome

1 OMIM reference -
2 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

2q37 microdeletion syndrome

1 OMIM reference -
1 associated gene
52 signs/symptoms

17p13.3 microduplication syndrome

2q37 microdeletion syndrome

PAFAH1B1	(UniProt - OMIM)		HDAC4	(UniProt - OMIM)
YWHAE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.9)	HDAC4

Citations in the biomedical literature:

17p13.3 microduplication syndrome		2q37 microdeletion syndrome
	Synonym(s): - 17p13.3 duplication syndrome - Dup(17)(p13.3) - Trisomy 17p13.3		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

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: - Type of inheritance: sporadic

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


COMMON SIGNS	- Clinodactyly of fifth finger - Frontal bossing / prominent forehead - High vaulted / narrow palate - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Short neck

17p13.3 microduplication syndrome		2q37 microdeletion syndrome
	Very frequent - Broad nose / nasal bridge - High forehead - Hypertelorism - Microstomia / little mouth - Short / small nose Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Inguinal / inguinoscrotal / crural hernia - Micropenis / small penis / agenesis - Tall stature / gigantism / growth acceleration		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 - Congenital cardiac anomaly / malformation / cardiopathy - Deepset eyes / enophthalmos - Depressed nasal bridge - Downturned mouth - Eczema - Generalized obesity - High arched eyebrows - Hyperextensible joints / articular hyperlaxity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Metacarpal anomalies / Archibald's sign - Microcephaly - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly - Short stature / dwarfism / nanism - 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 - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Laryngomalacia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Multicystic kidney / renal dysplasia - Nephroblastoma / Wilms tumor - Obsessive-compulsive disorder - Sleep and vigilance disorders - Tics / stereotypias - Tracheomalacia / tracheobronchomalacia