Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay; Cakuthed

Description

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay; Cakuthed

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Strabismus

And another 48 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

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Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay; Cakuthed Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RT-PCR t(1;19)(E2A/PBX1).

By CGC Genetics (Portugal).

TCF3, PBX1
Specificity
50 %
Genes
100 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROBO2, SALL1, BMP4, BMP7, SIX1, SIX2, SIX5, SOX11, TBX18, HNF1B, UMOD, UPK3A, WNT4, TRAP1, SRGAP1, CDC5L, SOX17, HPSE2, GRIP1, CHD1L , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Fluorescent in situ Hybridization - Hematopathology.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA (United States).

BCL6, BCR, RUNX1, ABI1, TCF3, TP53, DLEU1, CRLF2, RUNX1T1, CBFB, CDKN2A, CDKN2C, CKS1B, ETV6, MECOM, FGFR1, IGH, JAK2, MYC, ABL1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Onco microarray for MDS/AML.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States).

BCR, RPN1, RUNX1, SET, TCF3, TERT, TFG, TP53, TRPS1, WT1, MRTFA, RBM15, RUNX1T1, CBFB, CBL, PICALM, MLLT10, ACSL6, ARHGAP26, ASXL1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa (United States).

ROBO2, CNNM2, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, BMP4, SEMA3E, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC17A5, SLC2A2, SLC34A1, SLC3A1, SLC4A4 , (...)

View the complete list with 230 more genes
Specificity
1 %
Genes
100 %
Renal Malformation Panel.

By Blueprint Genetics (Finland).

ROBO2, SALL1, BMP4, SIX1, SIX5, HNF1B, WT1, ACTG2, FREM1, FREM2, CCNQ, DSTYK, EYA1, FANCB, FOXC2, GATA3, PAX2, PBX1, REN, RET
Specificity
5 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences (United States).

BCL6, BCL7A, BCL9, BCR, ROS1, RPL10, RPL22, RPL5, RPN1, RUNX1, BLM, SDC4, SDHB, SDHC, SDHD, BMPR1A, SET, SF3B1, SFPQ, SRSF2 , (...)

View the complete list with 559 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

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Sources and references

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OMIM Rare Disease Search Engine

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