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BAIPRCK
MCID: BLD169
MIFTS: 17
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Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut (BAIPRCK)
Categories:
Genetic diseases, Nephrological diseases
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Aliases & Classifications for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex...
MalaCards integrated aliases for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut:
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: |
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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. |
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Human phenotypes related to Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:191800 |
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MalaCards organs/tissues related to Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut:40
Kidney
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Articles related to Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut:
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Genes related to Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut:6
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Search
GEO
for disease gene expression data for Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut.
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