CAKUTHED
MCID: CNG495
MIFTS: 23

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 74 29 6
Cakuthed 57 74
Anomalies, Congenital, Kidney and Urinary Tract Syndrome with/without Hearing Loss, Abnormal Ears, or Developmental Delay 40

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:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 57 617641
MeSH 44 D014564

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

UniProtKB/Swiss-Prot : 74 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 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)

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...

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
thickened helices
hypoplastic helices
anteverted ears
hypoplastic ears
more
Genitourinary Kidneys:
renal insufficiency
horseshoe kidney
renal hypoplasia
renal agenesis
renal dysplasia
more
Genitourinary External Genitalia Male:
cryptorchidism
micropenis

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

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary Ureters:
bifid ureter
urinary tract abnormalities
absent ureter

Growth Other:
growth retardation

Muscle Soft Tissue:
hypotonia

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

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

Genitourinary Bladder:
vesicoureteral reflux

Genitourinary:
ambiguous genitalia
abnormal sexual development

Head And Neck Mouth:
thin upper lip

Cardiovascular Heart:
congenital heart defects (in some patients)

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...

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:

41
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. 8 71
29036646 2017
2
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. 8 71
28566479 2017
3
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. 8
28270404 2017
4
Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability. 8
27255444 2016
5
Pbx1 regulates nephrogenesis and ureteric branching in the developing kidney. 8
12591246 2003

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
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PBX1 NM_002585.3(PBX1): c.428del (p.Asn143fs) deletion Pathogenic rs1553247028 1:164761893-164761893 1:164792656-164792656
2 PBX1 NM_002585.3(PBX1): c.550C> T (p.Arg184Ter) single nucleotide variant Pathogenic rs1553248081 1:164768975-164768975 1:164799738-164799738
3 PBX1 NM_002585.3(PBX1): c.511-2A> G single nucleotide variant Pathogenic rs1553248075 1:164768934-164768934 1:164799697-164799697
4 PBX1 NM_002585.3(PBX1): c.413_419del (p.Gly138fs) deletion Pathogenic rs1553247020 1:164761877-164761883 1:164792640-164792646
5 PBX1 NM_002585.3(PBX1): c.680G> C (p.Arg227Pro) single nucleotide variant Pathogenic rs1553248110 1:164769105-164769105 1:164799868-164799868
6 PBX1 NM_002585.3(PBX1): c.701G> C (p.Arg234Pro) single nucleotide variant Pathogenic rs1553248112 1:164769126-164769126 1:164799889-164799889
7 PBX1 NM_002585.3(PBX1): c.704G> A (p.Arg235Gln) single nucleotide variant Pathogenic rs1553249136 1:164776781-164776781 1:164807544-164807544
8 PBX1 NM_002585.3(PBX1): c.783dup (p.Ser262fs) duplication Pathogenic rs1553249146 1:164776860-164776860 1:164807623-164807623
9 PBX1 NM_002585.3(PBX1): c.701G> A (p.Arg234Gln) single nucleotide variant Likely pathogenic rs1553248112 1:164769126-164769126 1:164799889-164799889
10 PBX1 NM_002585.3(PBX1): c.818G> A (p.Cys273Tyr) single nucleotide variant Likely pathogenic 1:164776895-164776895 1:164807658-164807658

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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