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Abnormality of the urinary system

MedGen UID:
867444
Concept ID:
C4021821
Disease or Syndrome
Synonym: Urinary tract abnormalities
 
HPO: HP:0000079

Definition

An abnormality of the urinary system. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the urinary system

Conditions with this feature

Infantile GM1 gangliosidosis
MedGen UID:
75665
Concept ID:
C0268271
Disease or Syndrome
GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.
Smith-Magenis syndrome
MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.
Kapur-Toriello syndrome
MedGen UID:
208654
Concept ID:
C0796005
Disease or Syndrome
An extremely rare syndrome with characteristics of facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Only four cases have been reported in the literature, in three unrelated families. Dysmorphic features include bilateral cleft lip and palate, bulbous nasal tip and eye anomalies. The condition seems to be inherited as an autosomal recessive trait.
Hepatic fibrosis-renal cysts-intellectual disability syndrome
MedGen UID:
347120
Concept ID:
C1859300
Disease or Syndrome
Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.
Glucocorticoid-remediable aldosteronism
MedGen UID:
824577
Concept ID:
C3838731
Disease or Syndrome
Familial hyperaldosteronism type I (HALD1), also referred to as glucocorticoid-remediable aldosteronism (GRA), is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et al., 2000). Genetic Heterogeneity of Familial Hyperaldosteronism Familial hyperaldosteronism type II (HALD2; 605635) is caused by mutation in the CLCN2 gene (600570) on chromosome 3q27. Familial hyperaldosteronism type III (HALD3; 613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24. Familial hyperaldosteronism type IV (HALD4; 617027) is caused by mutation in the CACNA1H gene (607904) on chromosome 16p13.
Renal tubular dysgenesis of genetic origin
MedGen UID:
1826125
Concept ID:
C5681536
Disease or Syndrome
An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.

Professional guidelines

PubMed

Chiarenza SF, Bleve C, Esposito C, Escolino M, Beretta F, Cheli M, Di Benedetto V, Scuderi MG, Casadio G, Marzaro M, Facetti LF, Bagolan P, Vella C, Conighi ML, Codric D, Nappo S, Caione P
Pediatr Med Chir 2019 Dec 19;41(2) doi: 10.4081/pmc.2019.232. PMID: 32323520

Recent clinical studies

Therapy

Chen TK, Hoenig MP, Nitsch D, Grams ME
BMJ 2023 Dec 5;383:e074216. doi: 10.1136/bmj-2022-074216. PMID: 38052474
Hughes T, Juliebø-Jones P, Saada L, Saeed K, Somani BK
Br J Hosp Med (Lond) 2021 Dec 2;82(12):1-11. Epub 2021 Dec 20 doi: 10.12968/hmed.2021.0337. PMID: 34983214
Nicolle LE, Gupta K, Bradley SF, Colgan R, DeMuri GP, Drekonja D, Eckert LO, Geerlings SE, Köves B, Hooton TM, Juthani-Mehta M, Knight SL, Saint S, Schaeffer AJ, Trautner B, Wullt B, Siemieniuk R
Clin Infect Dis 2019 May 2;68(10):e83-e110. doi: 10.1093/cid/ciy1121. PMID: 30895288
Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA
Nat Rev Dis Primers 2016 May 26;2:16035. doi: 10.1038/nrdp.2016.35. PMID: 27226234
Poortmans JR, Francaux M
Sports Med 2000 Sep;30(3):155-70. doi: 10.2165/00007256-200030030-00002. PMID: 10999421

Prognosis

Pedrosa AL, Bitencourt L, Paranhos RM, Leitáo CA, Ferreira GC, Simões E Silva AC
Curr Med Chem 2021;28(27):5602-5624. doi: 10.2174/0929867328666210108113500. PMID: 33423643
Ness D, Olsburgh J
World J Urol 2020 Jan;38(1):81-88. Epub 2019 Apr 1 doi: 10.1007/s00345-019-02742-6. PMID: 30937570
Taghavi K, Mushtaq I
J Pediatr Urol 2018 Apr;14(2):196-197. Epub 2018 Mar 7 doi: 10.1016/j.jpurol.2018.02.010. PMID: 29551554
Nguyen HT, Benson CB, Bromley B, Campbell JB, Chow J, Coleman B, Cooper C, Crino J, Darge K, Herndon CD, Odibo AO, Somers MJ, Stein DR
J Pediatr Urol 2014 Dec;10(6):982-98. Epub 2014 Nov 15 doi: 10.1016/j.jpurol.2014.10.002. PMID: 25435247
Dolk H, Loane M, Garne E
Adv Exp Med Biol 2010;686:349-64. doi: 10.1007/978-90-481-9485-8_20. PMID: 20824455

Clinical prediction guides

Haas M, Seshan SV, Barisoni L, Amann K, Bajema IM, Becker JU, Joh K, Ljubanovic D, Roberts ISD, Roelofs JJ, Sethi S, Zeng C, Jennette JC
Kidney Int 2020 Nov;98(5):1120-1134. Epub 2020 Aug 29 doi: 10.1016/j.kint.2020.08.006. PMID: 32866505
Cheung KW, Morris RK, Kilby MD
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:78-92. Epub 2019 Jan 11 doi: 10.1016/j.bpobgyn.2019.01.003. PMID: 30819578
Nguyen HT, Benson CB, Bromley B, Campbell JB, Chow J, Coleman B, Cooper C, Crino J, Darge K, Herndon CD, Odibo AO, Somers MJ, Stein DR
J Pediatr Urol 2014 Dec;10(6):982-98. Epub 2014 Nov 15 doi: 10.1016/j.jpurol.2014.10.002. PMID: 25435247
Gubler MC
Pediatr Nephrol 2014 Jan;29(1):51-9. Epub 2013 May 1 doi: 10.1007/s00467-013-2480-1. PMID: 23636579
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article

Recent systematic reviews

Beiner E, Lucas V, Reichert J, Buhai DV, Jesinghaus M, Vock S, Drusko A, Baumeister D, Eich W, Friederich HC, Tesarz J
Pain 2023 Jul 1;164(7):1416-1427. Epub 2023 Jan 5 doi: 10.1097/j.pain.0000000000002857. PMID: 36728497
Rota-Musoll L, Subirana-Casacuberta M, Oriol-Vila E, Homs-Del Valle M, Molina-Robles E, Brigidi S
J Ren Care 2020 Sep;46(3):169-184. Epub 2019 Dec 23 doi: 10.1111/jorc.12309. PMID: 31868304
Park JH, Lee GH, Lee SM, Eisenhut M, Kronbichler A, Lee KH, Shin JI
Vasa 2018 Jan;47(1):23-29. Epub 2017 Nov 22 doi: 10.1024/0301-1526/a000670. PMID: 29165061
Acién P, Acién M
Hum Reprod Update 2016 Jan-Feb;22(1):48-69. Epub 2015 Nov 3 doi: 10.1093/humupd/dmv048. PMID: 26537987
Averbeck MA, Madersbacher H
BJU Int 2015 Apr;115 Suppl 6:39-46. doi: 10.1111/bju.13084. PMID: 25891319

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