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Multinodular goiter-cystic kidney-polydactyly syndrome

MedGen UID:
333929
Concept ID:
C1841853
Disease or Syndrome
Synonyms: Daneman Davy Mancer syndrome; MNG/CRD/DA; Multinodular goiter, cystic renal disease, and digital anomalies; MULTINODULAR GOITER/CYSTIC RENAL DISEASE/DIGITAL ANOMALIES
SNOMED CT: Multinodular goiter, cystic kidney, polydactyly syndrome (723409007); Daneman Davy Mancer syndrome (723409007); Thyroid, renal, digital anomaly syndrome (723409007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007680
OMIM®: 138790
Orphanet: ORPHA2091

Definition

A very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. It has been described in two siblings and one unrelated child. The two siblings had digitalized thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goiter and/or digitalized thumbs and/or polydactyly were present in other members of families. This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultinodular goiter-cystic kidney-polydactyly syndrome
Follow this link to review classifications for Multinodular goiter-cystic kidney-polydactyly syndrome in Orphanet.

Professional guidelines

PubMed

Devins KM, Young RH, Ghioni M, Burandt E, Bennett JA, Oliva E
Am J Surg Pathol 2022 Nov 1;46(11):1477-1489. Epub 2022 Aug 9 doi: 10.1097/PAS.0000000000001933. PMID: 35941719
Mel'nichenko GA, Larina II
Ter Arkh 2018 Nov 22;90(10):4-23. doi: 10.26442/terarkh201890104-13. PMID: 30701789
Dworkin HJ, Meier DA, Kaplan M
Semin Nucl Med 1995 Jul;25(3):205-20. doi: 10.1016/s0001-2998(95)80011-5. PMID: 7570041

Recent clinical studies

Etiology

Niedziela M, Muchantef K, Foulkes WD
Sci Rep 2022 Sep 23;12(1):15888. doi: 10.1038/s41598-022-19709-0. PMID: 36151231Free PMC Article
Hořínová V, Drábová K, Nosková H, Bajčiová V, Šoukalová J, Černá L, Hůrková V, Slabý O, Štěrba J
Klin Onkol 2019 Summer;32(Supplementum2):123-127. doi: 10.14735/amko2019S123. PMID: 31409088
Guilmette J, Nosé V
Histopathology 2018 Jan;72(1):70-81. doi: 10.1111/his.13373. PMID: 29239041
Nam IC, Park YH
Curr Opin Otolaryngol Head Neck Surg 2017 Dec;25(6):469-474. doi: 10.1097/MOO.0000000000000404. PMID: 28759458
Nosé V
Mod Pathol 2011 Apr;24 Suppl 2:S19-33. doi: 10.1038/modpathol.2010.147. PMID: 21455198

Diagnosis

Martins D, Tonon CR, Pacca RL, Matchil NL, Junior LAJ, Queiroz DS, Pereira FWL, Silva AM, Padovese V, Padovani de Toledo Moraes M, Luiz da Silva D, Cardoso Nóbrega V, Curcelli EC, Okoshi MP
Am J Case Rep 2021 Sep 20;22:e932683. doi: 10.12659/AJCR.932683. PMID: 34855717Free PMC Article
Ibrahim A, Chopra S
Arch Pathol Lab Med 2020 May;144(5):655-660. Epub 2019 Jun 6 doi: 10.5858/arpa.2018-0370-RS. PMID: 31169996
Mel'nichenko GA, Larina II
Ter Arkh 2018 Nov 22;90(10):4-23. doi: 10.26442/terarkh201890104-13. PMID: 30701789
Guilmette J, Nosé V
Histopathology 2018 Jan;72(1):70-81. doi: 10.1111/his.13373. PMID: 29239041
Cooper DS
Lancet 2003 Aug 9;362(9382):459-68. doi: 10.1016/S0140-6736(03)14073-1. PMID: 12927435

Therapy

Martins D, Tonon CR, Pacca RL, Matchil NL, Junior LAJ, Queiroz DS, Pereira FWL, Silva AM, Padovese V, Padovani de Toledo Moraes M, Luiz da Silva D, Cardoso Nóbrega V, Curcelli EC, Okoshi MP
Am J Case Rep 2021 Sep 20;22:e932683. doi: 10.12659/AJCR.932683. PMID: 34855717Free PMC Article
Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD
J Clin Invest 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206. PMID: 31805011Free PMC Article
Sharma M, Aronow WS, Patel L, Gandhi K, Desai H
Med Sci Monit 2011 Apr;17(4):RA85-91. doi: 10.12659/msm.881705. PMID: 21455118Free PMC Article
Cooper DS
Lancet 2003 Aug 9;362(9382):459-68. doi: 10.1016/S0140-6736(03)14073-1. PMID: 12927435
Dworkin HJ, Meier DA, Kaplan M
Semin Nucl Med 1995 Jul;25(3):205-20. doi: 10.1016/s0001-2998(95)80011-5. PMID: 7570041

Prognosis

Apellaniz-Ruiz M, Sabbaghian N, Chong AL, de Kock L, Cetinkaya S, Bayramoğlu E, Dinjens WNM, McCluggage WG, Wagner A, Yilmaz AA, Foulkes WD
Fam Cancer 2023 Oct;22(4):487-493. Epub 2023 May 30 doi: 10.1007/s10689-023-00336-1. PMID: 37248399Free PMC Article
González IA, Stewart DR, Schultz KAP, Field AP, Hill DA, Dehner LP
Mod Pathol 2022 Jan;35(1):4-22. Epub 2021 Oct 1 doi: 10.1038/s41379-021-00905-8. PMID: 34599283Free PMC Article
Ibrahim A, Chopra S
Arch Pathol Lab Med 2020 May;144(5):655-660. Epub 2019 Jun 6 doi: 10.5858/arpa.2018-0370-RS. PMID: 31169996
Khan NE, Bauer AJ, Schultz KAP, Doros L, Decastro RM, Ling A, Lodish MB, Harney LA, Kase RG, Carr AG, Rossi CT, Field A, Harris AK, Williams GM, Dehner LP, Messinger YH, Hill DA, Stewart DR
J Clin Endocrinol Metab 2017 May 1;102(5):1614-1622. doi: 10.1210/jc.2016-2954. PMID: 28323992Free PMC Article
Kovich O, Cohen D
Dermatol Online J 2004 Nov 30;10(3):3. PMID: 15748573

Clinical prediction guides

Niedziela M, Muchantef K, Foulkes WD
Sci Rep 2022 Sep 23;12(1):15888. doi: 10.1038/s41598-022-19709-0. PMID: 36151231Free PMC Article
Hořínová V, Drábová K, Nosková H, Bajčiová V, Šoukalová J, Černá L, Hůrková V, Slabý O, Štěrba J
Klin Onkol 2019 Summer;32(Supplementum2):123-127. doi: 10.14735/amko2019S123. PMID: 31409088
Khan NE, Bauer AJ, Schultz KAP, Doros L, Decastro RM, Ling A, Lodish MB, Harney LA, Kase RG, Carr AG, Rossi CT, Field A, Harris AK, Williams GM, Dehner LP, Messinger YH, Hill DA, Stewart DR
J Clin Endocrinol Metab 2017 May 1;102(5):1614-1622. doi: 10.1210/jc.2016-2954. PMID: 28323992Free PMC Article
Campennì A, Giovinazzo S, Pignata SA, Di Mauro F, Santoro D, Curtò L, Trimarchi F, Ruggeri RM, Baldari S
Endocrine 2017 Apr;56(1):19-26. Epub 2016 Oct 15 doi: 10.1007/s12020-016-1147-7. PMID: 27744598
Haddad G
Postgrad Med 1998 Jul;104(1):42-4, 53-5, 59. doi: 10.3810/pgm.1998.07.530. PMID: 9676561

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