Thauvin-robinet-faivre syndrome

Preferred Label : Thauvin-robinet-faivre syndrome;

Symbol : TROFAS;

CISMeF acronym : TROFAS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fibroblast growth factor, acidic, intracellular binding protein gene (FIBP, 608296.0001);

Neoplasia : Wilms tumor (1 patient);

Laboratory abnormalities : Fibroblasts showed increased proliferation compared to controls;

Prefixed ID : #617107;

Details

Origin ID

617107;

UMLS CUI

C4310715;

Currated CISMeF NLP mapping
- Tall stature, intellectual disability, renal anomalies syndrome (disorder) [SNOMED CT concept]
- Tall stature-intellectual disability-renal anomalies syndrome [ORDO Disease]
Genes related to phenotype
- Fibroblast growth factor, acidic, intracellular binding protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bifid ureter [HPO term]
- Bowing of the legs [HPO term]
- Coloboma [HPO term]
- Deeply set eye [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability, mild [HPO term]
- Large for gestational age [HPO term]
- Large hands [HPO term]
- Long foot [HPO term]
- Long hallux [HPO term]
- Macrocephaly [HPO term]
- Macroglossia [HPO term]
- Macrotia [HPO term]
- Midface retrusion [HPO term]
- Mitral valve prolapse [HPO term]
- Nephroblastoma [HPO term]
- Overgrowth [HPO term]
- Pes planus [HPO term]
- Renal cyst [HPO term]
- Renal dysplasia [HPO term]
- Renal malrotation [HPO term]
- Round face [HPO term]
- Sensorineural hearing impairment [HPO term]
- Strabismus [HPO term]
- Tall stature [HPO term]
- Thick vermilion border [HPO term]
- Varicose veins [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Tall stature-intellectual disability-renal anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tall stature, intellectual disability, renal anomalies syndrome (disorder) [SNOMED CT concept]
- Tall stature-intellectual disability-renal anomalies syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients