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CAKUTHED
MCID: CNG495
MIFTS: 20
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Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay (CAKUTHED)
Categories:
Ear diseases, Genetic diseases, Nephrological diseases
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Aliases & Classifications for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...
MalaCards integrated aliases for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay:
Name: Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay
57
75
29
6
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
variable severity highly variable phenotype de novo mutation onset at birth or early infancy extra-renal manifestations are variable some patients have a contiguous gene deletion syndrome involving the pbx1 gene HPO:32
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay:
Onset and clinical course variable expressivity Classifications: |
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UniProtKB/Swiss-Prot
:
75
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, is also known as cakuthed. 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 low-set ears and hearing impairment OMIM : 57 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) |
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Symptoms & Phenotypes for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617641Human phenotypes related to Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay:32 (show all 29)
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Drugs & Therapeutics for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...
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Genetic tests related to Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay:
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MalaCards organs/tissues related to Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay:41
Kidney,
Heart
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Genes related to Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay:6 (show all 18)
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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.
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