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Unilateral renal hypoplasia

MedGen UID:
609098
Concept ID:
C0431691
Congenital Abnormality
Synonyms: Renal Hypoplasia, Unilateral; Unilateral Renal Hypoplasia
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0012583
Monarch Initiative: MONDO:0019979
Orphanet: ORPHA97361

Definition

One sided hypoplasia of the kidney. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUnilateral renal hypoplasia
Follow this link to review classifications for Unilateral renal hypoplasia in Orphanet.

Conditions with this feature

Meier-Gorlin syndrome 8
MedGen UID:
1390366
Concept ID:
C4479655
Disease or Syndrome
Orofaciodigital syndrome type 14
MedGen UID:
1635470
Concept ID:
C4706604
Disease or Syndrome
A rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations. The disease has characteristics of severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulum, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign on brain imaging are also associated.
Dworschak-Punetha neurodevelopmental syndrome
MedGen UID:
1800957
Concept ID:
C5677017
Disease or Syndrome
Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) is an autosomal recessive disorder characterized mainly by global developmental delay and mildly impaired intellectual development (IQ range 77 to 85), often with behavioral abnormalities, including autism spectrum disorder and hyperactivity. Some affected individuals may have only speech delay or behavioral manifestations. More variable additional features include optic disc hypoplasia, ptosis, hypo- or hyperpigmented skin lesions, nonspecific dysmorphic facial features, and brain imaging abnormalities of the ventricles or corpus callosum. Of note, not all patients exhibit all features, and there is significant inter- and intrafamilial phenotypic variability (Dworschak et al., 2021).
Tessadori-Van Haaften neurodevelopmental syndrome 3
MedGen UID:
1824083
Concept ID:
C5774310
Disease or Syndrome
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-3 (TEBIVANED3) is characterized by global developmental delay with poor overall growth, impaired intellectual development, and speech difficulties. More variable features include hypotonia, microcephaly, and dysmorphic facies. The severity and manifestations of the disorder are highly variable (Tessadori et al., 2022). For a discussion of genetic heterogeneity of Tessadori-Bicknell-van Haaften neurodevelopmental disorder, see TEBIVANED1 (619758).

Professional guidelines

PubMed

Arab SF, Alhumaid AA, Abu Alnasr MT, Altuwaijri TA, Al-Ghofili H, Al-Salman MM, Altoijry A
Saudi J Kidney Dis Transpl 2022 Jan-Feb;33(1):147-159. doi: 10.4103/1319-2442.367807. PMID: 36647988
La Scola C, Ammenti A, Bertulli C, Bodria M, Brugnara M, Camilla R, Capone V, Casadio L, Chimenz R, Conte ML, Conversano E, Corrado C, Guarino S, Luongo I, Marsciani M, Marzuillo P, Meneghesso D, Pennesi M, Pugliese F, Pusceddu S, Ravaioli E, Taroni F, Vergine G, Peruzzi L, Montini G
Pediatr Nephrol 2022 Sep;37(9):2185-2207. Epub 2022 Jun 17 doi: 10.1007/s00467-022-05528-y. PMID: 35713730Free PMC Article
Huang JJ, Tseng CC
Arch Intern Med 2000 Mar 27;160(6):797-805. doi: 10.1001/archinte.160.6.797. PMID: 10737279

Recent clinical studies

Etiology

Seidel T, Kuwertz-Bröking E, Kaczmarek S, Kirschstein M, Frosch M, Bulla M, Harms E
Pediatr Nephrol 2007 Nov;22(11):1897-901. Epub 2007 Sep 14 doi: 10.1007/s00467-007-0589-9. PMID: 17874139

Diagnosis

Ding JJ, Lin SH, Lai JY, Wu TW, Huang JL, Chung HT, Tseng MH
BMC Nephrol 2019 Feb 21;20(1):64. doi: 10.1186/s12882-019-1246-9. PMID: 30791890Free PMC Article
Terasaka T, Hagiya H, Kimura K, Nada T, Nakamura E, Hanayama Y, Sugiyama H, Kobayashi Y, Yanai H, Otsuka F
Acta Med Okayama 2015;69(2):119-22. doi: 10.18926/AMO/53341. PMID: 25899634
Ounap K, Laidre P, Bartsch O, Rein R, Lipping-Sitska M
Am J Med Genet 1998 Dec 28;80(5):491-3. doi: 10.1002/(sici)1096-8628(19981228)80:5<491::aid-ajmg10>3.0.co;2-j. PMID: 9880214
Shapiro SR, Adelman RD, Tesluk H
Urology 1977 Dec;10(6):517-28. doi: 10.1016/0090-4295(77)90093-0. PMID: 203075
Meares EM Jr, Gross DM
J Urol 1972 Aug;108(2):197-200. doi: 10.1016/s0022-5347(17)60686-4. PMID: 5047395

Prognosis

Seidel T, Kuwertz-Bröking E, Kaczmarek S, Kirschstein M, Frosch M, Bulla M, Harms E
Pediatr Nephrol 2007 Nov;22(11):1897-901. Epub 2007 Sep 14 doi: 10.1007/s00467-007-0589-9. PMID: 17874139
Hansen HJ, Nielsen I, Ladefoged J, Nerstrom B
Acta Chir Scand Suppl 1976;472:99-102. PMID: 1072563

Clinical prediction guides

Kim JH, Park EY, Chitayat D, Stachura DL, Schaper J, Lindstrom K, Jewett T, Wieczorek D, Draaisma JM, Sinnema M, Hoeberigs C, Hempel M, Bachman KK, Seeley AH, Stone JK, Kong HK, Vukadin L, Richard A, Shinde DN, McWalter K, Si YC, Douglas G, Lim ST, Vissers LELM, Lemaire M, Ahn EE
Kidney Int 2019 Jun;95(6):1494-1504. Epub 2019 Mar 15 doi: 10.1016/j.kint.2019.01.025. PMID: 31005274Free PMC Article
Dong S, Wang C, Li X, Shen Q, Fu X, Wu M, Song C, Yang N, Wu Y, Wang H, Jin L, Xu H, Zhang F
Mol Genet Genomics 2019 Apr;294(2):493-500. Epub 2019 Jan 2 doi: 10.1007/s00438-018-1522-6. PMID: 30604070
Terasaka T, Hagiya H, Kimura K, Nada T, Nakamura E, Hanayama Y, Sugiyama H, Kobayashi Y, Yanai H, Otsuka F
Acta Med Okayama 2015;69(2):119-22. doi: 10.18926/AMO/53341. PMID: 25899634
Ounap K, Laidre P, Bartsch O, Rein R, Lipping-Sitska M
Am J Med Genet 1998 Dec 28;80(5):491-3. doi: 10.1002/(sici)1096-8628(19981228)80:5<491::aid-ajmg10>3.0.co;2-j. PMID: 9880214
Van Acker KJ, Vincke H, Quatacker J, Senesael L, Van den Brande J
Arch Dis Child 1971 Jun;46(247):321-6. doi: 10.1136/adc.46.247.321. PMID: 5090664Free PMC Article

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