ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Multicentric carpo-tarsal osteolysis with or without nephropathy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CREBBP	(0.63)	MAFB

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Multicentric carpo-tarsal osteolysis with or without nephropathy
	Synonym(s): (no synonyms)		Synonym(s): - Idiopathic multicentric osteolysis with or without nephropathy

	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 bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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

Multicentric carpo-tarsal osteolysis with or without nephropathy
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign - Micrognathia / retrognathia / micrognathism / retrognathism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia - Osteolysis / osteoclasia / bone destruction / erosions - Proptosis / exophthalmos - Proteinuria - Restricted joint mobility / joint stiffness / ankylosis - Triangular face - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Wrist / carpal anomalies Frequent - Camptodactyly of fingers - Renal disease / nephropathy Occasional - Broad nasal root - Downturned mouth - Epiphyseal anomaly - Polyhydramnios - Telecanthus / canthal dystopy
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)