MCID: CNG495
MIFTS: 16

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

Categories: Genetic diseases, Nephrological diseases, Ear diseases

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 6
Cakuthed 57 75

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


Classifications:



External Ids:

OMIM 57 617641
MeSH 44 D014564

Summaries for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...

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.

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)

Related Diseases for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...

Symptoms & Phenotypes for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
thickened helices
hypoplastic ears
abnormally shaped ears
hearing loss (in some patients)
more
Genitourinary Kidneys:
renal insufficiency
horseshoe kidney
renal hypoplasia
renal agenesis
renal dysplasia
more
Genitourinary External Genitalia Male:
cryptorchidism
micropenis

Genitourinary Bladder:
vesicoureteral reflux

Genitourinary:
ambiguous genitalia
abnormal sexual development

Genitourinary Ureters:
bifid ureter
urinary tract abnormalities
absent ureter

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
thin upper lip

Respiratory:
respiratory insufficiency (in some patients)

Skin Nails Hair Skin:
sacral pit (in some patients)

Head And Neck Nose:
anteverted nares
broad nasal bridge

Head And Neck Eyes:
strabismus
epicanthal folds

Head And Neck Face:
narrow face
long face
prominent philtrum
dysmorphic facial features, variable

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Neurologic Central Nervous System:
motor delay
speech delay
developmental delay (in some patients)

Cardiovascular Heart:
congenital heart defects (in some patients)

Growth Other:
growth retardation

Abdomen Gastrointestinal:
poor feeding

Chest Diaphragm:
diaphragmatic hernia


Clinical features from OMIM:

617641

Drugs & Therapeutics for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...

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

Genetic Tests for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...

Anatomical Context for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...

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

Publications for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...

Variations for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...

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 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PBX1 NM_002585.3(PBX1): c.428delA (p.Asn143Thrfs) deletion Pathogenic GRCh37 Chromosome 1, 164761893: 164761893
2 PBX1 NM_002585.3(PBX1): c.428delA (p.Asn143Thrfs) deletion Pathogenic GRCh38 Chromosome 1, 164792656: 164792656
3 PBX1 NM_002585.3(PBX1): c.550C> T (p.Arg184Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 164768975: 164768975
4 PBX1 NM_002585.3(PBX1): c.550C> T (p.Arg184Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 164799738: 164799738
5 PBX1 NM_002585.3(PBX1): c.511-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 1, 164768934: 164768934
6 PBX1 NM_002585.3(PBX1): c.511-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 1, 164799697: 164799697
7 PBX1 NM_002585.3(PBX1): c.412_418delGGGGCAG (p.Gly138Valfs) deletion Pathogenic GRCh37 Chromosome 1, 164761877: 164761883
8 PBX1 NM_002585.3(PBX1): c.412_418delGGGGCAG (p.Gly138Valfs) deletion Pathogenic GRCh38 Chromosome 1, 164792640: 164792646
9 PBX1 NM_002585.3(PBX1): c.680G> C (p.Arg227Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 164769105: 164769105
10 PBX1 NM_002585.3(PBX1): c.680G> C (p.Arg227Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 164799868: 164799868
11 PBX1 NM_002585.3(PBX1): c.701G> C (p.Arg234Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 164769126: 164769126
12 PBX1 NM_002585.3(PBX1): c.701G> C (p.Arg234Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 164799889: 164799889
13 PBX1 NM_002585.3(PBX1): c.704G> A (p.Arg235Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 164776781: 164776781
14 PBX1 NM_002585.3(PBX1): c.704G> A (p.Arg235Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 164807544: 164807544
15 PBX1 NM_002585.3(PBX1): c.783dup (p.Ser262Glnfs) duplication Pathogenic GRCh38 Chromosome 1, 164807623: 164807623
16 PBX1 NM_002585.3(PBX1): c.783dup (p.Ser262Glnfs) duplication Pathogenic GRCh37 Chromosome 1, 164776860: 164776860

Expression for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...

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.

Pathways for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...

GO Terms for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...

Sources for Congenital Anomalies of Kidney and Urinary Tract Syndrome with or...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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46 MGI
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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