BAIPRCK
MCID: BLD169
MIFTS: 17

Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut (BAIPRCK)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...

MalaCards integrated aliases for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut:

Name: Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut 56 73
Baiprck 56 73
Urinary Bladder, Atony of 56
Atony of Urinary Bladder 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero or early childhood
structural renal anomalies are secondary to abnormal bladder innervation
five patients from 3 unrelated families have been reported (last curated january 2020)


HPO:

31
bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 191800
MeSH 43 D001750
MedGen 41 C0403645
SNOMED-CT via HPO 68 263681008 287085006 42030000

Summaries for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...

OMIM : 56 Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT (congenital anomalies of the kidney and urinary tract) is an autosomal recessive neurogenic disorder with onset in utero or early childhood. Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension (summary by Mann et al., 2019). (191800)

MalaCards based summary : Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut, is also known as baiprck. An important gene associated with Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut is CHRNA3 (Cholinergic Receptor Nicotinic Alpha 3 Subunit). Affiliated tissues include kidney, and related phenotype is abnormality of the genitourinary system.

UniProtKB/Swiss-Prot : 73 Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT: An autosomal recessive disease characterized by impaired innervation and autonomic dysfunction of the urinary bladder, hydronephrosis, vesicoureteral reflux, small kidneys, recurrent urinary tract infections, and progressive renal insufficiency. Additional autonomic features are impaired pupillary reflex and orthostatic hypotension. The disease manifests in utero or early childhood.

Related Diseases for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...

Symptoms & Phenotypes for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...

Human phenotypes related to Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the genitourinary system 31 HP:0000119

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Ureters:
hydroureter

Genitourinary Kidneys:
cystic kidney
hydronephrosis, secondary
small kidney
renal dysfunction

Cardiovascular Vascular:
orthostatic hypotension (in some patients)

Genitourinary Bladder:
impaired bladder innervation
disturbed bladder and ureter coordination, neurogenic
vesicoureteral reflux, secondary
urinary tract infections, recurrent
thick bladder wall

Neurologic:
autonomic dysfunction

Head And Neck Eyes:
impaired pupillary reflex

Genitourinary External Genitalia Male:
hypospadias (1 patient)

Clinical features from OMIM:

191800

Drugs & Therapeutics for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...

Search Clinical Trials , NIH Clinical Center for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut

Genetic Tests for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...

Anatomical Context for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...

MalaCards organs/tissues related to Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut:

40
Kidney

Publications for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...

Articles related to Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut:

# Title Authors PMID Year
1
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. 6 56
31708116 2019
2
Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor. 56
10318955 1999
3
[Nerve-preserving operations in surgery of rectal cancer]. 61
16091676 2005

Variations for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...

ClinVar genetic disease variations for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHRNA3 NM_000743.5:c.1010_1011delshort repeat Pathogenic 805847 15:78893973-78893974 15:78601631-78601632
2 CHRNA3 NM_000743.5(CHRNA3):c.1019C>G (p.Ser340Ter)SNV Pathogenic 805848 15:78893965-78893965 15:78601623-78601623
3 CHRNA3 NM_000743.5(CHRNA3):c.267+2T>GSNV Pathogenic 805849 15:78910957-78910957 15:78618615-78618615

Expression for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...

Search GEO for disease gene expression data for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut.

Pathways for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...

GO Terms for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...

Sources for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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