Disease #02038 (ACDMPV (dysplasia, capillary, alveolar, with misalignment of pulmonary veins (ACDMPV)), OMIM:265380)

Official abbreviation ACDMPV
Name dysplasia, capillary, alveolar, with misalignment of pulmonary veins (ACDMPV)
OMIM ID 265380
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 47
Phenotype entries for this disease 47
Associated with 1 gene FOXF1
Associated tissues -
Disease features -
Remarks -


Individuals

47 entries on 1 page. Showing entries 1 - 47.
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00250214 - - - - ? - Asian - 0 - - ACDMPV posterior urethral valves FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250215 - - - - ? - Caucasian - 0 - - ACDMPV complex; butterfly vertebra FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250216 - - - F - - - 1d 0 - - ACDMPV died from pulmonary insufficiency; gestation 28w; birth weight 1091g; respiratory ACD/MPV, pulmonary lymphangiectasia; patent ductus arteriosus; esophageal atresia, tracheo-esophageal fistula, abnormal placement anus; Single umbilical artery FOXF1 FOXF1, FOXL1 2 1 -
00250218 - - - M - - - 40d 0 - - ACDMPV died from pulmonary insufficiency; elective C-section 38w; birth weight 2900g; respiratory ACD/MPV, persistent pulmonary hypertension, extracorporeal membrane oxygenation dependent (veno-veno); Tetralogy of Fallot, patent ductus arteriosus; duodenal atresia with annular pancreas, imperforate anus; bilateral hydronephrosis, mod right, severe left; Single umbilical artery FOXF1 FOXF1, FOXL1 2 1 -
00250219 - - - F - - - 15d 0 - - ACDMPV died from pulmonary insufficiency; elective C-section 37w; respiratory ACD/MPV, left pneumothorax, hypoxemia, surfactant therapy, extracorporeal membrane oxygenation; hypoplastic left heart syndrome; mild uretero-pelvic caliectasis; T11 butterfly vertebra; cleft lip, cleft palate, brachycephaly, single umbilical artery FOXF1 FOXF1, FOXL1 2 1 -
00250223 - - - M ? - - 10d 0 - - ACDMPV gestation 32w; birth weight 2470g; bilobed right lung, partial atrio-ventricular canal defect, patent ductus arteriosus, intestinal malrotation, annular pancreas and duodenal stenosis, bilateral hydronephrosis, hydroureter, dilatation of urinary bladder FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250224 - - - M ? - - 00y00m00d12h 0 - - ACDMPV gestation 32w; birth weight 2460g; obstructive renal dysplasia FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250225 - - - F ? - - 1d 0 - - ACDMPV gestation 35w; birth weight 2490g; partial anomalous pulmonary venous connection with absent left upper lobe pulmonary vein, malrotation of bowel, congenital short bowel, small omphalocele, bilateral severe hydronephrosis, hydroureter, bladder dilatation, micrognathia, low set ears FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250226 - - - M ? - - 47d 0 - - ACDMPV gestation 38w; birth weight 5057g; intestinal malrotation, Meckel's diverticulum FOXF1 FOXF1 2 1 Avinash Dharmadhikari
00250227 - - - F ? - Hispanic - 0 - - ACDMPV Malrotation of intestine, imperforate anus, butterfly vertebra FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250228 - - - M ? - Caucasian - 0 - - ACDMPV Incomplete rotation of bowel, high arched palate, hypocalvaria, incomplete lung lobation FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250229 - - - M ? - Caucasian - 0 - - ACDMPV Malrotation of the intestine, hydronephrosis, bilateral hydroureter, enlarged and thick bladder FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250230 - - - F ? - Caucasian - 0 - - ACDMPV None FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250231 - - - M ? - Caucasian - 0 - - ACDMPV Abnormal lung lobation, malrotation of the intestine, duodenal atresia FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250232 - - - M ? - Caucasian - 0 - - ACDMPV Hyaline membrane disease, patent ductus arteriosus, multiple intestinal atresias, imperforate anus, undescended testis, Hirschprung disease FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250233 - - - M ? - Hispanic - 0 - - ACDMPV none identified FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250234 - - - - ? - Caucasian - 0 - - ACDMPV duodenal and anal atresia, malrotation of the large intestine and gallbladder agenesis FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250235 - - - ? ? - Caucasian - 0 - - ACDMPV Atrial septal defect, polyhydramnios FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250236 - - - F ? - Caucasian - 0 - - ACDMPV Intestinal malrotation FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250237 - - - F ? - Caucasian - 0 - - ACDMPV Bilobed right lung FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250238 - - - ? no - Caucasian - 0 - - ACDMPV unknown FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250239 - - - ? ? - unknown - 0 - - ACDMPV unknown FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250240 - - - M ? - Caucasian - 0 - - ACDMPV Hydronephrosis, partial stenosis at transition to colon transversum FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250241 - - - M ? - Caucasian - 0 - - ACDMPV Malrotation of the intestine, atrial septal defect, thickened distended bladder with muscular hypertrophy FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250242 - - - F ? - Caucasian - 0 - - ACDMPV Meckel’s divurticulum, moderate acute cortical involution of thymus FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250243 - - - M ? - Asian/Caucasian - 0 - - ACDMPV Bilobed right lung, partial atrio-ventricular canal defect, patent ductus arteriosus, intestinal malrotation, annular pancreas, duodenal stenosis, bilateral hydronephrosis, hydroureter, dilatation of urinary bladder FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250244 - - - F ? - Caucasian - 0 - - ACDMPV none identified FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250245 - - - ? no - Caucasian - 0 - - ACDMPV unknown FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250246 - - - F ? - African American - 0 - - ACDMPV none identified FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250247 - - - M ? - Caucasian - 0 - - ACDMPV Megaduodenum, pyloric stenosis, annular pancreas FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250248 - - - - ? - African American - 0 - - ACDMPV Atrial septal defects FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250249 - - - M no - Caucasian - 0 - - ACDMPV Uretral stenosis, megavesica, severe hydronephrosis FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250250 - - - F no - Caucasian - 0 - - ACDMPV Isolated arhinencephaly FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250251 - - - M no - Caucasian - 0 - - ACDMPV Severe obstructive uropathy FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250252 - - - F ? - Caucasian - 0 - - ACDMPV Duodenal stenosis, annular pancreas, malrotation of large intestine FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250253 - - - F ? - Caucasian - 0 - - ACDMPV unknown FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250254 - - - F ? - Caucasian - 0 - - ACDMPV Duodenal atresia, polysplenia, annular pancreas and left hydronephrosis FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250255 - - - ? ? - unknown - 0 - - ACDMPV unknown FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250256 - - - M ? - Asian - 0 - - ACDMPV None FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250257 - - - ? ? - unknown - 0 - - ACDMPV unknown FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250258 - - - M ? - Caucasian - 0 - - ACDMPV Mild aortic coarctation, Meckel's diverticulum FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250259 - - - M ? - Caucasian - 0 - - ACDMPV none identified FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250260 - - - F ? - Hispanic - 0 - - ACDMPV Bilateral incomplete lobation of lungs, Lymphangiectasis FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250261 - - - F ? - Caucasian - 0 - - ACDMPV No lung lobation FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250263 - - - M ? - Hispanic - 0 - - ACDMPV none identified FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250264 - - - ? ? - unknown - 0 - - ACDMPV unknown FOXF1 FOXF1 1 1 Avinash Dharmadhikari
00250265 - - - F ? - Caucasian - 0 - - ACDMPV Atrial septal defect FOXF1 FOXF1 1 1 Avinash Dharmadhikari
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