Disease #05480 (DIH (hernia, diaphragmatic, congential))

Official abbreviation DIH
Name hernia, diaphragmatic, congential
OMIM ID -
Inheritance -
Individuals reported having this disease 35
Phenotype entries for this disease 32
Associated with 2 genes PLS3, ZFPM2
Associated tissues -
Disease features -
Remarks -
Date created 2018-10-22 17:14:17 +02:00 (CEST)
Date last edited 2023-10-06 11:50:29 +02:00 (CEST)


Individuals

35 entries on 1 page. Showing entries 1 - 35.
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00183310 ASHG2018-P1260-Fam1 Petit ASHG2018 P1260 3-generation family, 10 affected (10M) M - France - - - - - DIH - PLS3 PLS3 1 10 Johan den Dunnen
00183311 ASHG2018-P1260-Fam2 Petit ASHG2018 P1260 family, 2 affected (2M) M - - - - - - - DIH - PLS3 PLS3 1 2 Johan den Dunnen
00183312 ASHG2018-P1260-Fam3 Petit ASHG2018 P1260 family, 3 affected (3M) M - - - - - - - DIH - PLS3 PLS3 1 3 Johan den Dunnen
00436743 Fam1PatII2 PubMed: Petit 2023, Journal: Petit 2023 5-generation family, 18 affected F - France - - - - - DIH see paper; ..., deceased; congenital diaphragmatic hernia (unspecified) - - - 18 Johan den Dunnen
00436744 Fam1PatIII1 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - DIH see paper; ..., alive; no diaphragm defect type; no body-wall defect; hypertelorism; no neurodevelopmental features - PLS3 1 1 Johan den Dunnen
00436745 Fam1PatIII2 PubMed: Petit 2023, Journal: Petit 2023 relative M - France - - - - - DIH see paper; ..., alive; no diaphragm defect type; supraumbilical abdominal hernia; hypertelorism; no neurodevelopmental features; high bone densitometry, genu valgum - PLS3 1 1 Johan den Dunnen
00436746 Fam1PatIII4 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - DIH see paper; ..., alive; no diaphragm defect type; no body-wall defect; hypertelorism; no neurodevelopmental features - PLS3 1 1 Johan den Dunnen
00436747 Fam1PatIII9 PubMed: Petit 2023, Journal: Petit 2023 relative M - France - - - - - DIH see paper; ..., deceased; congenital diaphragmatic hernia (unspecified) - - - 1 Johan den Dunnen
00436748 Fam1PatIII10 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - DIH see paper; ..., alive; no diaphragm defect type; hypertelorism; no neurodevelopmental features - PLS3 1 1 Johan den Dunnen
00436749 Fam1PatIV3 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - DIH see paper; ..., alive; no diaphragm defect type; no body-wall defect; hypertelorism; no neurodevelopmental features - PLS3 1 1 Johan den Dunnen
00436750 Fam1PatIV4 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - DIH see paper; ..., alive; no diaphragm defect type; supraumbilical abdominal hernia; hypertelorism; no neurodevelopmental features - PLS3 1 1 Johan den Dunnen
00436751 Fam1PatIV12 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - DIH see paper; ..., alive; no diaphragm defect type; supraumbilical abdominal hernia; hypertelorism; no neurodevelopmental features - PLS3 1 1 Johan den Dunnen
00436752 Fam1PatIV13 PubMed: Petit 2023, Journal: Petit 2023 relative M - France - - - - - DIH see paper; ..., deceased; left congenital diaphragmatic hernia; omphalocele; dextrocardia - - - 1 Johan den Dunnen
00436753 Fam1PatIV15 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - DIH see paper; ..., alive; no diaphragm defect type; no body-wall defect; hypertelorism; no neurodevelopmental features - PLS3 1 1 Johan den Dunnen
00436754 Fam1PatIV16 PubMed: Petit 2023, Journal: Petit 2023 relative M - France - - - - - DIH see paper; ..., deceased; diaphragm agenesis; no body-wall defect; neonatal seizures; bilateral renal pelvis dilation - PLS3 1 1 Johan den Dunnen
00436755 Fam1PatIV34 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - DIH see paper; ..., alive; no diaphragm defect type; hypertelorism; no neurodevelopmental features - PLS3 1 1 Johan den Dunnen
00436756 Fam1PatIV35 PubMed: Petit 2023, Journal: Petit 2023 relative M - France - - - - - DIH see paper; ..., alive; congenital diaphragmatic hernia (unspecified); hypertelorism; intellectual disability - - - 1 Johan den Dunnen
00436757 Fam1PatIV36 PubMed: Petit 2023, Journal: Petit 2023 relative M - France - - - - - DIH see paper; ..., alive; congenital diaphragmatic hernia (unspecified); intellectual disability - - - 1 Johan den Dunnen
00436758 Fam1PatV2 PubMed: Petit 2023, Journal: Petit 2023 relative M - France - - - - - DIH see paper; ..., deceased; left diaphragm agenesis; no body-wall defect; hypertelorism; hypotonia; left lung segmentation defect, bicuspid aortic valve, two choroid cysts - PLS3 1 1 Johan den Dunnen
00436759 Fam1PatV6 PubMed: Petit 2023, Journal: Petit 2023 relative (fetus) M - France - - - - - DIH see paper; ..., deceased (termination of pregnancy); left diaphragm agenesis; cystic hygroma, left lung segmentation defect - PLS3 1 1 Johan den Dunnen
00436760 Fam2PatI2 PubMed: Petit 2023, Journal: Petit 2023 2-generation family, affected mother/2 sons F - United States - - - - - DIH see paper; ..., alive; no diaphragm defect type; umbilical hernia; no dysmorphic features; no neurodevelopmental features - PLS3 1 3 Johan den Dunnen
00436761 Fam2PatII1 PubMed: Petit 2023, Journal: Petit 2023 son M - United States - - - - - DIH see paper; ..., deceased; left posterolateral congenital diaphragmatic hernia; supraumbilical abdominal muscle deficiency, cleft sternum; hypoplasia of corpus callosum - PLS3 1 1 Johan den Dunnen
00436762 Fam2PatII2 PubMed: Petit 2023, Journal: Petit 2023 son M - United States - - - - - DIH see paper; ..., deceased; left diaphragm agenesis; supraumbilical abdominal muscle deficiency - PLS3 1 1 Johan den Dunnen
00436763 Fam3PatIII3 PubMed: Petit 2023, Journal: Petit 2023 4-generation family, 6 affected (3F, 3M) M - United States - - - - - DIH see paper; ..., alive; left posterolateral congenital diaphragmatic hernia; no body-wall defect; no dysmorphic features - PLS3 1 6 Johan den Dunnen
00436764 Fam3PatIV1 PubMed: Petit 2023, Journal: Petit 2023 relative M - United States - - - - - DIH see paper; ..., deceased; no body-wall defect; left posterolateral congenital diaphragmatic hernia - PLS3 1 1 Johan den Dunnen
00436765 Fam3PatIV2 PubMed: Petit 2023, Journal: Petit 2023 relative M - United States - - - - - DIH see paper; ..., alive; left posterolateral congenital diaphragmatic hernia; no body-wall defect; no dysmorphic features; hydronephrosis with ureteral abnormality - PLS3 1 1 Johan den Dunnen
00436766 Fam4PatII1 PubMed: Petit 2023, Journal: Petit 2023 4-generation family, 6 affected (3F, 3M) M - United States - - - - - DIH see paper; ..., deceased; congenital diaphragmatic hernia (unspecified) - - - 6 Johan den Dunnen
00436767 Fam4PatIII1 PubMed: Petit 2023, Journal: Petit 2023 relative M - United States - - - - - DIH see paper; ..., deceased; congenital diaphragmatic hernia (unspecified) - - - 1 Johan den Dunnen
00436768 Fam4PatIII3 PubMed: Petit 2023, Journal: Petit 2023 relative M - United States - - - - - DIH see paper; ..., alive; congenital diaphragmatic hernia (unspecified); no neurodevelopmental features - PLS3 1 1 Johan den Dunnen
00436769 Fam5PatII1 PubMed: Petit 2023, Journal: Petit 2023 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - DIH see paper; ..., alive; right congenital diaphragmatic hernia; absence of right-sided internal oblique and transversus abdominis muscles; no dysmorphic features; no neurodevelopmental features - PLS3 1 1 Johan den Dunnen
00436770 Fam6PatII1 PubMed: Petit 2023, Journal: Petit 2023 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - DIH see paper; ..., alive; diaphragm eventration; no body-wall defect; no dysmorphic features; no neurodevelopmental features - PLS3 1 1 Johan den Dunnen
00436771 Fam7PatII2 PubMed: Petit 2023, Journal: Petit 2023 2-generation family, 1 affected, unaffected non-carrier parents M - United States Hispanic - - - - DIH see paper; ..., alive; bilateral ventral CDH with hernia sacs; epigastric skin-covered abdominal-wall defect; hypertelorism, prominent forehead, broad flattened nasal bridge, downslanting palpebral fissures, low-set ears, micrognathia, anteverted nares; no neurodevelopmental features; membranous ventricular septal defect, atrial septal defect, hydronephrosis, unilateral cryptorchidism, unilateral inguinal hernia - PLS3 1 1 Johan den Dunnen
00436772 Fam8PatII2 PubMed: Petit 2023, Journal: Petit 2023 2-generation family, 3 affected sons, unaffected carrier mother M - United States - - - - - DIH see paper; ..., deceased; congenital diaphragmatic hernia (unspecified) - - - 3 Johan den Dunnen
00436773 Fam8PatII3 PubMed: Petit 2023, Journal: Petit 2023 son (half-brother) M - United States - - - - - DIH see paper; ..., deceased; congenital diaphragmatic hernia (unspecified) - - - 1 Johan den Dunnen
00436774 Fam8PatII5 PubMed: Petit 2023, Journal: Petit 2023 son (half-brother) M - United States white - - - - DIH see paper; ..., alive; left congenital diaphragmatic hernia with hernia sac; no body-wall defect; hypertelorism, low-set right ear, short nose with wide nasal root, downslanting palpebral fissures, widely spaced teeth, high arched palate; intermittent horizontal nystagmus, dilation of lateral ventricles, speech delay, intellectual disability, autism, complex partial seizures; corneal pannus, sensory neural hearing loss, malocclusion, two-vessel umbilical cord - PLS3 1 1 Johan den Dunnen
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