Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay

Preferred Label : Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay;

Symbol : CAKUTHED;

CISMeF acronym : CAKUTHED;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the pre-B-cell leukemia transcription factor 1 gene (PBX1, 176310.0001);

Prefixed ID : #617641;

Details

Origin ID

617641;

UMLS CUI

C4539968;

Genes related to phenotype
- Pre-b-cell leukemia transcription factor 1 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal heart morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Absence of renal corticomedullary differentiation [HPO term]
- Ambiguous genitalia [HPO term]
- Anteverted ears [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid ureter [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Cryptorchidism [HPO term]
- Decreased numbers of nephrons [HPO term]
- Deep philtrum [HPO term]
- Delayed speech and language development [HPO term]
- Ectopic kidney [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Horseshoe kidney [HPO term]
- Hyperechogenic kidneys [HPO term]
- Hypoplastic helices [HPO term]
- Long face [HPO term]
- Low-set ears [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Motor delay [HPO term]
- Narrow face [HPO term]
- Oligohydramnios [HPO term]
- Renal agenesis [HPO term]
- Renal dysplasia [HPO term]
- Renal hypoplasia [HPO term]
- Renal insufficiency [HPO term]
- Respiratory insufficiency [HPO term]
- Strabismus [HPO term]
- Thickened helices [HPO term]
- Thin upper lip vermilion [HPO term]
- Unilateral renal agenesis [HPO term]
- Vascular dilatation [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients