CAKUTHED
MCID: CNG495
MIFTS: 26

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

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 73 29 6
Cakuthed 57 73
Anomalies, Congenital, Kidney and Urinary Tract Syndrome with/without Hearing Loss, Abnormal Ears, or Developmental Delay 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay:
Inheritance autosomal dominant inheritance


Classifications:



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

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 respiratory insufficiency 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) (Updated 05-Mar-2021)

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

Diseases related to Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.0

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

Human phenotypes related to Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay:

31 (show all 40)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 very rare (1%) HP:0002093
2 hearing impairment 31 very rare (1%) HP:0000365
3 global developmental delay 31 very rare (1%) HP:0001263
4 renal insufficiency 31 very rare (1%) HP:0000083
5 horseshoe kidney 31 very rare (1%) HP:0000085
6 renal hypoplasia 31 very rare (1%) HP:0000089
7 unilateral renal agenesis 31 very rare (1%) HP:0000122
8 abnormal heart morphology 31 very rare (1%) HP:0001627
9 absence of renal corticomedullary differentiation 31 very rare (1%) HP:0005564
10 wide nasal bridge 31 HP:0000431
11 delayed speech and language development 31 HP:0000750
12 microtia 31 HP:0008551
13 anteverted nares 31 HP:0000463
14 strabismus 31 HP:0000486
15 cryptorchidism 31 HP:0000028
16 growth delay 31 HP:0001510
17 low-set ears 31 HP:0000369
18 ectopic kidney 31 HP:0000086
19 epicanthus 31 HP:0000286
20 motor delay 31 HP:0001270
21 narrow face 31 HP:0000275
22 micropenis 31 HP:0000054
23 vesicoureteral reflux 31 HP:0000076
24 thin upper lip vermilion 31 HP:0000219
25 long face 31 HP:0000276
26 deep philtrum 31 HP:0002002
27 congenital diaphragmatic hernia 31 HP:0000776
28 thickened helices 31 HP:0000391
29 ambiguous genitalia 31 HP:0000062
30 oligohydramnios 31 HP:0001562
31 feeding difficulties 31 HP:0011968
32 renal agenesis 31 HP:0000104
33 generalized hypotonia 31 HP:0001290
34 renal dysplasia 31 HP:0000110
35 bifid ureter 31 HP:0030037
36 hyperechogenic kidneys 31 HP:0004719
37 hypoplastic helices 31 HP:0008589
38 anteverted ears 31 HP:0040080
39 decreased numbers of nephrons 31 HP:0005563
40 vascular dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Nose:
anteverted nares
broad nasal bridge

Head And Neck Eyes:
strabismus
epicanthal folds

Head And Neck Ears:
low-set ears
thickened helices
hypoplastic helices
anteverted ears
hypoplastic ears
more
Head And Neck Face:
narrow face
long face
prominent philtrum
dysmorphic facial features, variable

Genitourinary:
ambiguous genitalia
abnormal sexual development

Genitourinary Ureters:
bifid ureter
urinary tract abnormalities
absent ureter

Head And Neck Mouth:
thin upper lip

Cardiovascular Heart:
congenital heart defects (in some patients)

Respiratory:
respiratory insufficiency (in some patients)

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

Genitourinary Kidneys:
renal insufficiency
horseshoe kidney
renal hypoplasia
renal agenesis
renal dysplasia
more
Genitourinary External Genitalia Male:
cryptorchidism
micropenis

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

Genitourinary Bladder:
vesicoureteral reflux

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Muscle Soft Tissue:
hypotonia

Growth Other:
growth retardation

Abdomen Gastrointestinal:
poor feeding

Chest Diaphragm:
diaphragmatic hernia

Clinical features from OMIM®:

617641 (Updated 05-Mar-2021)

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...

Genetic tests related to Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay:

# Genetic test Affiliating Genes
1 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 29 PBX1

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:

40
Kidney, Heart

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

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

# Title Authors PMID Year
1
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. 57 6
29036646 2017
2
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. 57 6
28566479 2017
3
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. 57
28270404 2017
4
Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles. 6
29226118 2017
5
Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability. 57
27255444 2016
6
Pbx1 regulates nephrogenesis and ureteric branching in the developing kidney. 57
12591246 2003
7
A New Pathogenic Variant of CAKUTHED Diagnosed Based on Intellectual Disability. 61
31713835 2020
8
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. 61
31625560 2020

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 17)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PBX1 NM_002585.3(PBX1):c.550C>T (p.Arg184Ter) SNV Pathogenic 437836 rs1553248081 1:164768975-164768975 1:164799738-164799738
2 PBX1 NM_002585.3(PBX1):c.511-2A>G SNV Pathogenic 437837 rs1553248075 1:164768934-164768934 1:164799697-164799697
3 PBX1 NM_002585.3(PBX1):c.428del (p.Asn143fs) Deletion Pathogenic 437835 rs1553247028 1:164761892-164761892 1:164792655-164792655
4 PBX1 NM_002585.3(PBX1):c.413_419del (p.Gly138fs) Deletion Pathogenic 488567 rs1553247020 1:164761877-164761883 1:164792640-164792646
5 PBX1 NM_002585.3(PBX1):c.680G>C (p.Arg227Pro) SNV Pathogenic 523088 rs1553248110 1:164769105-164769105 1:164799868-164799868
6 PBX1 NM_002585.3(PBX1):c.701G>C (p.Arg234Pro) SNV Pathogenic 523089 rs1553248112 1:164769126-164769126 1:164799889-164799889
7 PBX1 NM_002585.3(PBX1):c.704G>A (p.Arg235Gln) SNV Pathogenic 523090 rs1553249136 1:164776781-164776781 1:164807544-164807544
8 PBX1 NM_002585.3(PBX1):c.783dup (p.Ser262fs) Duplication Pathogenic 523091 rs1553249146 1:164776856-164776857 1:164807619-164807620
9 PBX1 NM_002585.4(PBX1):c.661G>T (p.Glu221Ter) SNV Pathogenic 807456 rs1571431145 1:164769086-164769086 1:164799849-164799849
10 PBX1 NM_002585.4(PBX1):c.265+2_265+5del Deletion Pathogenic 872515 1:164532547-164532550 1:164563310-164563313
11 PBX1 NM_002585.4(PBX1):c.634C>T (p.Gln212Ter) SNV Likely pathogenic 992378 1:164769059-164769059 1:164799822-164799822
12 PBX1 NM_002585.4(PBX1):c.618dup (p.Lys207fs) Duplication Likely pathogenic 829839 rs1571431063 1:164769042-164769043 1:164799805-164799806
13 PBX1 NM_002585.4(PBX1):c.703C>T (p.Arg235Trp) SNV Likely pathogenic 829999 rs1571445295 1:164776780-164776780 1:164807543-164807543
14 PBX1 NM_002585.4(PBX1):c.836A>G (p.Gln279Arg) SNV Likely pathogenic 974860 1:164776913-164776913 1:164807676-164807676
15 PBX1 NM_001204961.1(PBX1):c.701G>A (p.Arg234Gln) SNV Likely pathogenic 559855 rs1553248112 1:164769126-164769126 1:164799889-164799889
16 PBX1 NM_002585.3(PBX1):c.818G>A (p.Cys273Tyr) SNV Likely pathogenic 598775 rs1558020021 1:164776895-164776895 1:164807658-164807658
17 PBX1 NM_002585.4(PBX1):c.145C>T (p.Gln49Ter) SNV Likely pathogenic 666556 rs1571217834 1:164529204-164529204 1:164559967-164559967

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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