Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
21 signs/symptoms
Rubinstein-Taybi syndrome due to CREBBP mutations
17q12 microdeletion syndrome

CREBBP HNF1B
LHX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.55)
HNF1B



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
17q12 microdeletion syndrome
HNF1B LHX1



Rubinstein-Taybi syndrome due to CREBBP mutations
17q12 microdeletion syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Del(17)(q12)
- Monosomy 17q12

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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

17q12 microdeletion syndrome

Very frequent
- Insterstitial / subtelomeric microdeletion / deletion
- Multicystic kidney / renal dysplasia

Frequent
- Diabetes mellitus
- Short stature / dwarfism / nanism

Occasional
- Abnormal hepatic enzymes / transaminases
- Agenesis / hypoplasia / aplasia of kidneys
- Autism / autistic disoders
- Congenital absence / agenesis / aplasia / hypoplasia of the pancreas
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Oligoamnios
- Renal failure
- Seizures / epilepsy / absences / spasms / status epilepticus
- Shawl scrotum
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis


Rubinstein-Taybi syndrome due to CREBBP mutations

(no data available)