Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay (CAKUTHED)

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OMIM 56 617641 MeSH 43 D014564

MedGen 41 C4539968 CN417140 SNOMED-CT via HPO 68 103276001 128602000 13213009 15188001 162294008 16507009 17190001 197811007 204878001 204942005 204949001 21321009 22066006 224958001 229721007 236423003 249321001 263681008 276617005 29164008 32659003 343087000 34911001 35045004 409623005 41729002 42399005 432119003 444896005 59566000 59576002 62415009 708670007 78164000 85659009 95515009 95828007 more

UniProtKB/Swiss-Prot : ⁷³ Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay: An autosomal dominant disorder characterized by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay.

MalaCards based summary : Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay, also known as cakuthed, is related to alacrima, achalasia, and mental retardation syndrome. An important gene associated with Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay is PBX1 (PBX Homeobox 1). Affiliated tissues include kidney and heart, and related phenotypes are hearing impairment and global developmental delay

OMIM : ⁵⁶ CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017). (617641)

Clinical features from OMIM:

617641

Search Clinical Trials , NIH Clinical Center for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay

Search GEO for disease gene expression data for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay.