MCID: PGD001
MIFTS: 26

Pagod Syndrome

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Pagod Syndrome

MalaCards integrated aliases for Pagod Syndrome:

Name: Pagod Syndrome 56 52 58
Pulmonary Hypoplasia-Agonadism-Dextrocardia-Diaphragmatic Hernia Syndrome 52 58
Agonadism with Multiple Internal Malformations 56 52
Kennerknecht Sorgo Oberhoffer Syndrome 52 71
Pulmonary Hypoplasia, Hypoplasia of the Pulmonary Artery, Agonadism, Omphalocele-Diaphragmatic Defect, and Dextrocardia 52

Characteristics:

Orphanet epidemiological data:

58
pagod syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

HPO:

31
pagod syndrome:
Clinical modifier death in infancy


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Pagod Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 991 Definition PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Epidemiology Since the first publication in 1991, only 11 patients have been described. Clinical description 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 patients present gonadal agenesis or hypoplasia and developmental anomalies of Wolffian and Mullerian duct structures. Etiology Etiology is unknown but vitamin A deficiency has been suggested to play a role in the development of the syndrome. Genetic counseling Almost all cases are sporadic, except for 2 siblings, suggesting autosomal recessive inheritance. Prognosis Life expectancy is reduced due to cardiac and respiratory complications. Visit the Orphanet disease page for more resources.

MalaCards based summary : Pagod Syndrome, also known as pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome, is related to omphalocele and hypercarotenemia and vitamin a deficiency, autosomal dominant. Affiliated tissues include lung, heart and testis, and related phenotypes are pulmonary hypoplasia and pulmonary artery hypoplasia

More information from OMIM: 202660

Related Diseases for Pagod Syndrome

Diseases related to Pagod Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 omphalocele 10.4
2 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.2
3 keratomalacia 10.2
4 dextrocardia 10.2
5 hypoplastic left heart syndrome 10.2
6 mitral atresia 10.2
7 total anomalous pulmonary venous return 1 10.1
8 respiratory failure 10.1
9 heart disease 10.1
10 hypogonadism 10.1
11 double outlet right ventricle 10.1
12 hypogonadotropism 10.1
13 neuroblastoma 10.1

Graphical network of the top 20 diseases related to Pagod Syndrome:



Diseases related to Pagod Syndrome

Symptoms & Phenotypes for Pagod Syndrome

Human phenotypes related to Pagod Syndrome:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002089
2 pulmonary artery hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004971
3 hypoplastic left heart 58 31 frequent (33%) Frequent (79-30%) HP:0004383
4 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
5 multicystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000003
6 abnormality of the uterus 58 31 frequent (33%) Frequent (79-30%) HP:0000130
7 congenital diaphragmatic hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000776
8 female pseudohermaphroditism 58 31 frequent (33%) Frequent (79-30%) HP:0010458
9 ambiguous genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000062
10 omphalocele 58 31 frequent (33%) Frequent (79-30%) HP:0001539
11 agonadism 31 frequent (33%) HP:0008633
12 abnormal testis morphology 31 frequent (33%) HP:0000035
13 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
14 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
15 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
16 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
17 abnormality of neuronal migration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002269
18 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
19 meningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002435
20 abnormality of the spleen 58 31 occasional (7.5%) Occasional (29-5%) HP:0001743
21 abnormal aortic morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001679
22 abnormality of the clavicle 58 31 occasional (7.5%) Occasional (29-5%) HP:0000889
23 situs inversus totalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001696
24 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
25 asymmetric growth 58 31 occasional (7.5%) Occasional (29-5%) HP:0100555
26 arrhythmia 58 Occasional (29-5%)
27 malformation of the heart and great vessels 58 Very frequent (99-80%)
28 death in infancy 58 Frequent (79-30%)
29 abnormality of female internal genitalia 58 Very frequent (99-80%)
30 abnormality of the testis 58 Frequent (79-30%)
31 spina bifida 58 Occasional (29-5%)
32 abnormality of the pulmonary artery 58 Very frequent (99-80%)
33 absent gonadal tissue 58 Frequent (79-30%)

Clinical features from OMIM:

202660

Drugs & Therapeutics for Pagod Syndrome

Search Clinical Trials , NIH Clinical Center for Pagod Syndrome

Genetic Tests for Pagod Syndrome

Anatomical Context for Pagod Syndrome

MalaCards organs/tissues related to Pagod Syndrome:

40
Lung, Heart, Testis, Spleen, Kidney, Uterus, Testes

Publications for Pagod Syndrome

Articles related to Pagod Syndrome:

# Title Authors PMID Year
1
Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome. 56
8291549 1993
2
Gonadal agenesis in a 46,XY female with multiple malformations and positive testing for the sex-determining region of the Y chromosome. 56
1806465 1991
3
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. 61
31069960 2019
4
PAGOD syndrome and vascular anomalies: is a defect embryonic angiogenesis? A case report and review. 61
29938988 2016
5
[Diaphragmatic defect, congenital heart disease, agonadism: a new case of PAGOD syndrome]. 61
24582125 2014
6
Hypoplastic left heart syndrome in PAGOD syndrome. 61
24894929 2014
7
Vitamin A deficiency in an infant with PAGOD syndrome. 61
19760653 2009
8
A case of PAGOD syndrome with hypoplastic left heart syndrome. 61
16675049 2007
9
PAGOD syndrome: a new abdominal finding and risk of sudden death. 61
15861200 2005
10
PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin A deficiency. 61
11891692 2002

Variations for Pagod Syndrome

Expression for Pagod Syndrome

Search GEO for disease gene expression data for Pagod Syndrome.

Pathways for Pagod Syndrome

GO Terms for Pagod Syndrome

Sources for Pagod Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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