ODCs

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Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Floating-Harbor syndrome

1 OMIM reference -
1 associated gene
43 signs/symptoms

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Floating-Harbor syndrome

EP300

(UniProt - OMIM)

SRCAP

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.73)	SRCAP

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Floating-Harbor syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Leisti-Hollister-Rimoin syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease		Classification (Orphanet): - 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: (no data available)		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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537062

Floating-Harbor syndrome
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Broad nasal root - Broad / bifid thumb - Delayed bone age - Long / large / bulbous nose - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrostomia / big mouth - Restricted joint mobility / joint stiffness / ankylosis - Short neck - Short philtrum - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thick columella - Thin / retracted lips Frequent - Camptodactyly of some fingers - Clavicle absent / abnormal - Clinodactyly of fifth finger - Constipation - Deepset eyes / enophthalmos - Failure to thrive / difficulties for feeding in infancy / growth delay - Hirsutism / hypertrichosis / Increased body hair - Hyperextensible joints / articular hyperlaxity - Immobile soft palate / soft palate anomaly - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Joint dislocation / subluxation - Malabsorption / chronic diarrhea / steatorrhea - Short hand / brachydactyly - Thin / hypoplastic ala nasi - Triangular face Occasional - Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital cardiac anomaly / malformation / cardiopathy - Hyperactivity / attention deficit - Micropenis / small penis / agenesis - Motor deficit / trouble - Strabismus / squint - Telecanthus / canthal dystopy - Thin / hypoplastic / hyperconvex fingernails - Trigonocephaly - Urethral anomalies / stenosis / posterior urethral valves / megalocystis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)