PAGOD syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS
Pulmonary hypoplasia - agonadism - dextrocardia - diaphragmatic hernia syndrome
Number of Symptoms 31
OrphanetNr: 991
OMIM Id: 202660
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Syndrome with 46,XX disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndrome with 46,XY disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndrome with disorder of sex development of gynecological interest
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
Syndromic diaphragmatic or thoracic malformation
 -Rare surgical thoracic disease
Syndromic uterovaginal malformation
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000078) Abnormality of the genital system Very frequent [Orphanet] 33 / 7739
2
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
3
 (HPO:0010458) Female pseudohermaphroditism Frequent [Orphanet] 17 / 7739
4
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
5
 (HPO:0000062) Ambiguous genitalia Frequent [Orphanet] 74 / 7739
6
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
7
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
8
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
9
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
10
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
11
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
12
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
13
 (HPO:0002817) Abnormality of the upper limb Occasional [Orphanet] 25 / 7739
14
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
15
 (HPO:0002435) Meningocele Occasional [Orphanet] 23 / 7739
16
 (HPO:0000775) Abnormality of the diaphragm Frequent [Orphanet] 62 / 7739
17
 (HPO:0001539) Omphalocele Frequent [Orphanet] 102 / 7739
18
 (HPO:0001743) Abnormality of the spleen Occasional [Orphanet] 37 / 7739
19
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
20
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
21
 (HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
22
 (HPO:0001651) Dextrocardia Occasional [Orphanet] 38 / 7739
23
 (HPO:0004383) Hypoplastic left heart Frequent [Orphanet] 29 / 7739
24
 (HPO:0004414) Abnormality of the pulmonary artery Very frequent [Orphanet] 50 / 7739
25
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
26
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
27
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
28
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
29
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
30
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
31
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sorgo et al. (1991) reported agonadism associated with multiple internal malformations in a 46,XY female and her 46,XX sister. In a later study of this family, Kennerknecht et al. (1993) interpreted the family as representing a gene mutation ...