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PAGOD syndrome

MedGen UID:
347985
Concept ID:
C1859967
Disease or Syndrome
Synonyms: Agonadism with multiple internal malformations; Kennerknecht Sorgo Oberhoffer syndrome; Pulmonary hypoplasia, hypaoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia
SNOMED CT: Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (722132007); PAGOD syndrome (722132007); PAGOD (pulmonary hypoplasia, hypoplasia pulmonary artery, agonadism, omphalocele, dextrocardia) syndrome (722132007)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0008741
OMIM®: 202660
Orphanet: ORPHA991

Definition

PAGOD syndrome is a severe developmental syndrome with characteristics of multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Since the first publication in 1991, only 11 patients have been described. Neonates with PAGOD syndrome present with several visceral anomalies: hypoplasia of right or left lung, diaphragmatic hernia, omphalocele, various cardiac anomalies including, amongst others atrial septal defect, left ventricular hypoplasia or ventricular septal defect and great vessels anomalies such as aortic hypoplasia and pulmonary artery hypoplasia or atresia. Cardiac and mediastinal structures may be in dextroposition. Ambiguous external genitalia can be observed in some cases and all present gonadal agenesis or hypoplasia and developmental anomalies of Wolffian and Mullerian duct structures. Vitamin A deficiency has been suggested to play a role in the development of the syndrome. Almost all cases are sporadic. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPAGOD syndrome
Follow this link to review classifications for PAGOD syndrome in Orphanet.

Recent clinical studies

Etiology

Takahashi K, Miyake A, Nakayashiro M
Pediatr Int 2014 Jun;56(3):422-4. doi: 10.1111/ped.12280. PMID: 24894929
Herman TE, McAlister WH, Stazzone MM
J Perinatol 2005 May;25(5):349-51. doi: 10.1038/sj.jp.7211292. PMID: 15861200

Diagnosis

Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA
Am J Med Genet A 2019 Jul;179(7):1376-1382. Epub 2019 May 8 doi: 10.1002/ajmg.a.61182. PMID: 31069960Free PMC Article
Takahashi K, Miyake A, Nakayashiro M
Pediatr Int 2014 Jun;56(3):422-4. doi: 10.1111/ped.12280. PMID: 24894929
Gavrilova R, Babovic N, Lteif A, Eidem B, Kirmani S, Olson T, Babovic-Vuksanovic D
Am J Med Genet A 2009 Oct;149A(10):2241-7. doi: 10.1002/ajmg.a.32998. PMID: 19760653
Herman TE, McAlister WH, Stazzone MM
J Perinatol 2005 May;25(5):349-51. doi: 10.1038/sj.jp.7211292. PMID: 15861200

Therapy

Herman TE, McAlister WH, Stazzone MM
J Perinatol 2005 May;25(5):349-51. doi: 10.1038/sj.jp.7211292. PMID: 15861200

Prognosis

Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA
Am J Med Genet A 2019 Jul;179(7):1376-1382. Epub 2019 May 8 doi: 10.1002/ajmg.a.61182. PMID: 31069960Free PMC Article
Gavrilova R, Babovic N, Lteif A, Eidem B, Kirmani S, Olson T, Babovic-Vuksanovic D
Am J Med Genet A 2009 Oct;149A(10):2241-7. doi: 10.1002/ajmg.a.32998. PMID: 19760653
Macayran JF, Doroshow RW, Phillips J, Sinow RM, Furst BA, Smith LM, Lin HJ
Am J Med Genet 2002 Mar 15;108(3):229-34. doi: 10.1002/ajmg.10262. PMID: 11891692

Clinical prediction guides

Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA
Am J Med Genet A 2019 Jul;179(7):1376-1382. Epub 2019 May 8 doi: 10.1002/ajmg.a.61182. PMID: 31069960Free PMC Article
Gavrilova R, Babovic N, Lteif A, Eidem B, Kirmani S, Olson T, Babovic-Vuksanovic D
Am J Med Genet A 2009 Oct;149A(10):2241-7. doi: 10.1002/ajmg.a.32998. PMID: 19760653
Macayran JF, Doroshow RW, Phillips J, Sinow RM, Furst BA, Smith LM, Lin HJ
Am J Med Genet 2002 Mar 15;108(3):229-34. doi: 10.1002/ajmg.10262. PMID: 11891692

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