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Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

MedGen UID:
419479
•Concept ID:
C2931722
•
Disease or Syndrome
Synonym: Chang Davidson Carlson syndrome
SNOMED CT: Hypogonadotropic hypogonadism retinitis pigmentosa syndrome (733113002); Chang Davidson Carlson syndrome (733113002)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016386
Orphanet: ORPHA2235

Definition

This syndrome is characterised by the association of hypogonadotropic hypogonadism (with primary amenorrhoea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Follow this link to review classifications for Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome in Orphanet.

Professional guidelines

PubMed

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.
Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA
J Med Genet 1999 Jun;36(6):437-46. PMID: 10874630Free PMC Article
Seven hereditary syndromes with pigmentary retinopathy. A review and differential diagnosis.
Cantani A, Bellioni P, Bamonte G, Salvinelli F, Bamonte MT
Clin Pediatr (Phila) 1985 Oct;24(10):578-83. doi: 10.1177/000992288502401006. PMID: 3896611

Recent clinical studies

Etiology

Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease.
Beigi F, Del Pozo-Valero M, Martin-Merida I, Perea-Romero I, Manaviat MR, Ayuso C, Ghasemi N
Exp Eye Res 2021 Jun;207:108533. Epub 2021 Mar 17 doi: 10.1016/j.exer.2021.108533. PMID: 33741323
Anesthetic management of a patient with Bardet-Biedl syndrome undergoing renal transplantation: A case report.
Yaman F, Çekmen N
Medicine (Baltimore) 2020 Sep 18;99(38):e22300. doi: 10.1097/MD.0000000000022300. PMID: 32957390Free PMC Article
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
M'hamdi O, Redin C, Stoetzel C, Ouertani I, Chaabouni M, Maazoul F, M'rad R, Mandel JL, Dollfus H, Muller J, Chaabouni H
Clin Genet 2014 Feb;85(2):172-7. Epub 2013 Apr 5 doi: 10.1111/cge.12129. PMID: 23432027
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, Sarda P, Hamel CP, Brandt C, Dollfus H, Moulin B
Clin J Am Soc Nephrol 2011 Jan;6(1):22-9. Epub 2010 Sep 28 doi: 10.2215/CJN.03320410. PMID: 20876674Free PMC Article
The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa.
Iannaccone A, De Propris G, Roncati S, Rispoli E, Del Porto G, Pannarale MR
Ophthalmic Genet 1997 Mar;18(1):13-26. doi: 10.3109/13816819709057879. PMID: 9134546

Diagnosis

A Case of Laurence Moon Bardet Biedl Syndrome.
Indraneel KS, VRajalakshmi, Dayanandan Y, Reddy NM
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116049
Bardet-Biedl syndrome: a case series.
Elawad OAMA, Dafallah MA, Ahmed MMM, Albashir AAD, Abdalla SMA, Yousif HHM, Daw Elbait AAE, Mohammed ME, Ali HIH, Ahmed MMM, Mohammed NFN, Osman FHM, Mohammed MAY, Abu Shama EAE
J Med Case Rep 2022 Apr 29;16(1):169. doi: 10.1186/s13256-022-03396-6. PMID: 35484558Free PMC Article
Ciliopathy: Alström Syndrome.
Tsang SH, Aycinena ARP, Sharma T
Adv Exp Med Biol 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35. PMID: 30578508
Bardet-Biedl syndrome and Usher syndrome.
Koenig R
Dev Ophthalmol 2003;37:126-40. doi: 10.1159/000072043. PMID: 12876834
Bardet-Biedl syndrome.
Keith CG
Aust J Ophthalmol 1984 May;12(2):143-8. PMID: 6487184

Therapy

A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.
Hayat A, Khan AA, Rauf A, Khan SU, Hussain S, Ullah A, Ahmad W, Shams S, Khan B
Clin Dysmorphol 2020 Jan;29(1):17-23. doi: 10.1097/MCD.0000000000000294. PMID: 31469663

Prognosis

C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
Khan AO, Decker E, Bachmann N, Bolz HJ, Bergmann C
Ophthalmic Genet 2016 Sep;37(3):290-3. Epub 2016 Feb 8 doi: 10.3109/13816810.2015.1066830. PMID: 26854863
Asymptomatic renal cell carcinoma as a finding of Bardet Biedl syndrome.
Zaldivar RA, Neale MD, Evans WE, Pulido JS
Ophthalmic Genet 2008 Mar;29(1):33-5. doi: 10.1080/13816810701762642. PMID: 18363171
Optic atrophy as a sign of wolfram syndrome.
Dedes W, Wildberger H, Landau K
Klin Monbl Augenheilkd 2005 Mar;222(3):248-51. doi: 10.1055/s-2005-858004. PMID: 15785992

Clinical prediction guides

A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report.
Mizumoto K, Kato K, Fujinami K, Sugita T, Sugita I, Hattori A, Saitoh S, Ueno S, Tsunoda K, Iwata T, Kondo M
Medicine (Baltimore) 2022 Dec 16;101(50):e32161. doi: 10.1097/MD.0000000000032161. PMID: 36550847Free PMC Article
A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.
Kytövuori L, Lipponen J, Rusanen H, Komulainen T, Martikainen MH, Majamaa K
J Neurol 2016 Nov;263(11):2188-2195. Epub 2016 Aug 8 doi: 10.1007/s00415-016-8249-2. PMID: 27502083
Ophthalmologic findings of Boucher-Neuhäuser syndrome.
Yu SI, Kim JL, Lee SG, Kim HW, Kim SJ
Korean J Ophthalmol 2008 Dec;22(4):263-7. doi: 10.3341/kjo.2008.22.4.263. PMID: 19096246Free PMC Article
New Alström syndrome phenotypes based on the evaluation of 182 cases.
Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM
Arch Intern Med 2005 Mar 28;165(6):675-83. doi: 10.1001/archinte.165.6.675. PMID: 15795345
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.
Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O'Leary E, Pryse-Phillips W
N Engl J Med 1989 Oct 12;321(15):1002-9. doi: 10.1056/NEJM198910123211503. PMID: 2779627

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