ORPHA:991
PAGOD syndrome
Synonyms: Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PAGOD syndrome | Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome |
| fr | Syndrome PAGOD | Syndrome d'hypoplasie pulmonaire-agonadisme-dextrocardie-hernie diaphragmatique |
| de | PAGOD-Syndrom | Kennerknecht-Syndrom · Lungenhypoplasie-Agonadismus-Dextrokardie-Zwerchfellhernie-Syndrom |
| es | Síndrome PAGOD | Síndrome de hipoplasia pulmonar-agonadismo-dextrocardia-hernia diafragmática |
| it | Sindrome PAGOD | Sindrome ipoplasia polmonare-agonadismo-destrocardia-ernia diaframmatica |
| nl | PAGOD-syndroom | Pulmonale hypoplasie - agonadisme - dextrocardie - hernia diaphragmatica-syndroom |
| pt | Síndrome PAGOD | Síndrome de hipoplasia pulmonar-agonadismo-dextrocárdia-hérnia diafragmática |
| pl | Zespół PAGOD | Zespół hipoplazja płuc, agonadyzmu, dekstrokardii i przepukliny przeponowej |
| cs | PAGOD syndrom | Syndrom zahrnující pulmonální hypoplázii, agonadismus, dextrokardii a brániční hernii |
| uk | Синдром PAGOD | индром гіпоплазії легень-агонадізму-декстрокардії-діафрагмальної грижі |
| zh | PAGOD综合征 | 肺发育不良-性腺缺如-右位心-膈疝综合征 |
| tr | PAGOD sendromu | Pulmoner hipoplazi-agonadizm-dekstrokardi-diyafragmatik herni sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202660 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0008741 | E | validated | |
| UMLS | C1859967 | E | validated | |
| GARD | 3086 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:325109Syndrome with 46,XX difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases - ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases - ORPHA:180148Syndromic uterovaginal malformation
rare gynecological and obstetric diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 8291549[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8291549[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0004414 | Abnormality of the pulmonary artery | |
| HP:0004971 | Pulmonary artery hypoplasia | |
| HP:0002089 | Pulmonary hypoplasia | |
| Frequent (79-30%) | ||
| HP:0000035 | Abnormal testis morphology | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0008633 | Agonadism | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001522 | Death in infancy | |
| HP:0010458 | Female pseudohermaphroditism | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001539 | Omphalocele | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| Occasional (29-5%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0001743 | Abnormality of the spleen | |
| HP:0011675 | Arrhythmia | |
| HP:0100555 | Asymmetric growth | |
| HP:0002084 | Encephalocele | |
| HP:0002435 | Meningocele | |
| HP:0000252 | Microcephaly | |
| HP:0000648 | Optic atrophy | |
| HP:0004322 | Short stature | |
| HP:0001696 | Situs inversus totalis | |
| HP:0002414 | Spina bifida | |
| HP:0001645 | Sudden cardiac death | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/991
- This record as JSON: /data/d/991.json