ODCs

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

PROTEIN INTERACTIONS: 1

1 associated gene
25 signs/symptoms

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Rothmund-Thomson syndrome type 2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.7)	RECQL4

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Rothmund-Thomson syndrome type 2
	Synonym(s): (no synonyms)		Synonym(s): - Poikiloderma of Rothmund-Thomson type 2 - RTS2

	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 eye disease - Rare genetic disease - Rare oncologic disease - Rare skin 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 recessive

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

Rothmund-Thomson syndrome type 2
	Very frequent - Anomalies of bones / skeletal anomalies - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of nose and olfaction - Autosomal recessive inheritance - Cataract / lens opacification - Eyebrows anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Premature ageing - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Sarcoma - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Telangiectasic erythema / poikiloderma - Thumb hypoplasia / aplasia / absence Frequent - Anomalies of teeth and dentition - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nails anomalies Occasional - Anaemia - Late puberty / hypogonadism / hypogenitalism - Malabsorption / chronic diarrhea / steatorrhea - Myelodysplastic syndrome - Nausea / vomiting / regurgitation / merycism / hyperemesis - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Polynuclear cells / neutrophils anomalies / neutropenia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)