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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.
Autosomal dominant inheritance (Orphanet)
 
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

Embryonal Rhabdomyosarcoma of the Uterine Cervix: A Clinicopathologic Study of 94 Cases Emphasizing Issues in Differential Diagnosis Staging, and Prognostic Factors.
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
Syndrome of thyrotoxicosis. Differential diagnosis and treatment.
Mel'nichenko GA, Larina II
Ter Arkh 2018 Nov 22;90(10):4-23. doi: 10.26442/terarkh201890104-13. PMID: 30701789
Percutaneous Treatment of Localized Infiltrative Hepatocellular Carcinoma Developing on Cirrhosis.
Nault JC, Nkontchou G, Nahon P, Grando V, Bourcier V, Barge S, Ziol M, Sellier N, Ganne-Carrie N, Seror O
Ann Surg Oncol 2016 Jun;23(6):1906-15. Epub 2016 Jan 5 doi: 10.1245/s10434-015-5064-4. PMID: 26732275

Recent clinical studies

Etiology

Bilateral Ovarian Sertoli-Leydig Cell Tumors Harboring DICER1 Germline and Distinct Somatic Mutations: Case Report and Literature Review.
Hughes CE, Liang J, Paulson V, Wang H
Fetal Pediatr Pathol 2023 Jun;42(3):472-478. Epub 2022 Sep 19 doi: 10.1080/15513815.2022.2120787. PMID: 36121434
DICER1 Mutations Occur in More Than One-Third of Follicular-Patterned Pediatric Papillary Thyroid Carcinomas and Correlate with a Low-Risk Disease and Female Gender Predilection.
Onder S, Mete O, Yilmaz I, Bayram A, Bagbudar S, Altay AY, Issin G, Terzi NK, Iscan Y, Sormaz IC, Tunca F, Senyurek YG, Yegen G
Endocr Pathol 2022 Dec;33(4):437-445. Epub 2022 Oct 17 doi: 10.1007/s12022-022-09736-y. PMID: 36251117
Expanding the spectrum of thyroid carcinoma with somatic DICER1 mutation: a survey of 829 thyroid carcinomas using MSK-IMPACT next-generation sequencing platform.
Ghossein CA, Dogan S, Farhat N, Landa I, Xu B
Virchows Arch 2022 Feb;480(2):293-302. Epub 2021 Sep 27 doi: 10.1007/s00428-021-03212-4. PMID: 34580763Free PMC Article
Advanced multiparametric magnetic resonance imaging of multinodular and vacuolating neuronal tumor.
Lecler A, Broquet V, Bailleux J, Carsin B, Adle-Biassette H, Baloglu S, Forestier G, Bonneville F, Calvier E, Chauvet D, Comby PO, Cottier JP, Cotton F, Deschamps R, Diard-Detoeuf C, Ducray F, Drissi C, Elmaleh M, Farras J, Aguilar Garcia J, Gerardin E, Grand S, Jianu DC, Kremer S, Loiseau H, Magne N, Mejdoubi M, Moulignier A, Ollivier M, Nagi S, Rodallec M, Shor N, Tourdias T, Vandendries C, Anxionnat R, Duron L, Savatovsky J
Eur J Neurol 2020 Aug;27(8):1561-1569. Epub 2020 May 22 doi: 10.1111/ene.14264. PMID: 32301260
An uncommon case of Marine-Lenhart syndrome.
Giuffrida G, Giovinazzo S, Certo R, Vicchio TM, Baldari S, Campennì A, Ruggeri RM
Arq Bras Endocrinol Metabol 2014 Jun;58(4):398-401. doi: 10.1590/0004-2730000003173. PMID: 24936736

Diagnosis

Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.
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
Hyperthyroidism.
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
Birt-Hogg-Dubé Syndrome.
Welsch MJ, Krunic A, Medenica MM
Int J Dermatol 2005 Aug;44(8):668-73. doi: 10.1111/j.1365-4632.2004.02095.x. PMID: 16101870
Is it hyperthyroidism? You can't always tell from the clinical picture.
Haddad G
Postgrad Med 1998 Jul;104(1):42-4, 53-5, 59. doi: 10.3810/pgm.1998.07.530. PMID: 9676561
Thyrotoxicosis.
Kannan CR, Seshadri KG
Dis Mon 1997 Sep;43(9):601-77. PMID: 9301645

Therapy

Gout Storm.
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
An uncommon case of Marine-Lenhart syndrome.
Giuffrida G, Giovinazzo S, Certo R, Vicchio TM, Baldari S, Campennì A, Ruggeri RM
Arq Bras Endocrinol Metabol 2014 Jun;58(4):398-401. doi: 10.1590/0004-2730000003173. PMID: 24936736
The large spectrum of pulmonary complications following illicit drug use: features and mechanisms.
Mégarbane B, Chevillard L
Chem Biol Interact 2013 Dec 5;206(3):444-51. Epub 2013 Oct 18 doi: 10.1016/j.cbi.2013.10.011. PMID: 24144776
Streptococcal toxic shock syndrome following total thyroidectomy.
Hung JA, Rajeev P
Ann R Coll Surg Engl 2013 Oct;95(7):457-60. doi: 10.1308/003588413X13629960048118. PMID: 24112488Free PMC Article
Hyperthyroidism.
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

Prognosis

Case Report: A very rare case of a Pleural Effusion revealing Multiple Myeloma.
Daboussi S, Saidane A, Mhamdi S, Kacem M, Essbaa S, Aichaouia C, Ghedira H, Gargouri F, Msakni I, Moatemri Z
F1000Res 2023;12:476. Epub 2023 Nov 3 doi: 10.12688/f1000research.133007.3. PMID: 38774309Free PMC Article
DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.
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
Endocrine surgery during COVID-19 pandemic: do we need an update of indications in Italy?
Lombardi CP, D'Amore A, Grani G, Ramundo V, Boscherini M, Gordini L, Marzi F, Tedesco S, Bocale R
Endocrine 2020 Jun;68(3):485-488. Epub 2020 Jun 4 doi: 10.1007/s12020-020-02357-7. PMID: 32500518Free PMC Article
Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.
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
An uncommon case of Marine-Lenhart syndrome.
Giuffrida G, Giovinazzo S, Certo R, Vicchio TM, Baldari S, Campennì A, Ruggeri RM
Arq Bras Endocrinol Metabol 2014 Jun;58(4):398-401. doi: 10.1590/0004-2730000003173. PMID: 24936736

Clinical prediction guides

Ultrasound features of multinodular goiter in DICER1 syndrome.
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
DICER1 Syndrome.
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
Myxoinflammatory fibroblastic sarcoma: report of a case with fine needle aspiration cytology.
García-García E, Rodríguez-Gil Y, Suárez-Gauthier A, Martínez-Tello FJ, López-Ríos F, Ballestín C
Acta Cytol 2007 Mar-Apr;51(2):231-4. doi: 10.1159/000325724. PMID: 17425211
A new form of familial multi-nodular goitre with progression to differentiated thyroid cancer.
Bakhsh A, Kirov G, Gregory JW, Williams ED, Ludgate M
Endocr Relat Cancer 2006 Jun;13(2):475-83. doi: 10.1677/erc.1.01138. PMID: 16728575
Is it hyperthyroidism? You can't always tell from the clinical picture.
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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