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	alveolar capillary dysplasia with misalignment of pulmonary veins

Disease ID	860
Disease	alveolar capillary dysplasia with misalignment of pulmonary veins
Definition	A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT).
Synonym	acd mpv acd-mpv acdmpv alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies circ persistent fetal circulation, persistent fetal familial persistent pulmonary hypertension of the newborn fetal circ persistent fetal circulation fetal circulation, persistent hypertension pulm of newborn persistent hypertension, pulmonary, of newborn, persistent misalignment of the pulmonary vessels persistent fetal circ persistent fetal circulation persistent fetal circulation (disorder) persistent fetal circulation syndrome persistent fetal circulation syndrome (disorder) persistent fetal circulation syndrome [disease/finding] persistent foetal circulation persistent foetal circulation syndrome persistent pulm hypertension of newborn persistent pulmonary hypertension of newborn persistent pulmonary hypertension of the newborn persistent pulmonary hypertension of the newborn (disorder) pfc - persistent fetal circulation pfc - persistent foetal circulation pfc syndrome pphn pphn - persistent pulmonary hypertension in newborn pulmonary hypertension, familial persistent, of the newborn
Orphanet	ORPHANET:210122
OMIM	OMIM:265380
DOID	DOID:13042
ICD10	ICD10CM:P29.3
UMLS	C0031190
MeSH	D010547
SNOMED-CT	SNOMEDCT_US_2016_09_01:206597007;SNOMEDCT_US_2016_09_01:35604006;SNOMEDCT_US_2016_09_01:233815004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:20) C0020542 \| pulmonary hypertension \| 42 C0031190 \| persistent pulmonary hypertension of the newborn \| 41 C0018799 \| heart disease \| 2 C0023895 \| liver disease \| 2 C0019284 \| diaphragmatic hernia \| 1 C0018818 \| ventricular septal defect \| 1 C0152021 \| congenital heart disease \| 1 C0020538 \| hypertension \| 1 C0016522 \| patent foramen ovale \| 1 C0085207 \| gestational diabetes \| 1 C0018801 \| heart failure \| 1 C0015958 \| twin-twin transfusion syndrome \| 1 C0025048 \| meconium aspiration \| 1 C0025048 \| meconium aspiration syndrome \| 1 C0040961 \| tricuspid regurgitation \| 1 C1145670 \| respiratory failure \| 1 C0158995 \| congenital anemia \| 1 C0024115 \| lung disease \| 1 C0015958 \| twin transfusion syndrome \| 1 C0002871 \| anemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 2294 \| FOXF1 \| CLINVAR;ORPHANET;UNIPROT 1373 \| CPS1 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:92) 19 \| ABCA1 \| 1.208 \| DISEASES 4363 \| ABCC1 \| 1.176 \| DISEASES 1244 \| ABCC2 \| 2.726 \| DISEASES 10057 \| ABCC5 \| 2.389 \| DISEASES 9619 \| ABCG1 \| 1.908 \| DISEASES 71 \| ACTG1 \| 1.937 \| DISEASES 94 \| ACVRL1 \| 2.349 \| DISEASES 9370 \| ADIPOQ \| 1.041 \| DISEASES 174 \| AFP \| 1.462 \| DISEASES 501 \| ALDH7A1 \| 1.684 \| DISEASES 309 \| ANXA6 \| 1.202 \| DISEASES 319 \| APOF \| 2.336 \| DISEASES 493 \| ATP2B4 \| 1.453 \| DISEASES 551 \| AVP \| 1.908 \| DISEASES 8912 \| CACNA1H \| 1.153 \| DISEASES 796 \| CALCA \| 1.046 \| DISEASES 146059 \| CDAN1 \| 1.422 \| DISEASES 1028 \| CDKN1C \| 1.11 \| DISEASES 1107 \| CHD3 \| 1.901 \| DISEASES 66005 \| CHID1 \| 2.41 \| DISEASES 1394 \| CRHR1 \| 1.244 \| DISEASES 1443 \| CSH2 \| 4.087 \| DISEASES 1460 \| CSNK2B \| 1.695 \| DISEASES 1528 \| CYB5A \| 1.797 \| DISEASES 1551 \| CYP3A7 \| 1.599 \| DISEASES 23564 \| DDAH2 \| 1.087 \| DISEASES 1717 \| DHCR7 \| 1.474 \| DISEASES 1906 \| EDN1 \| 4.031 \| DISEASES 1910 \| EDNRB \| 2.067 \| DISEASES 1961 \| EGR4 \| 1.853 \| DISEASES 10480 \| EIF3M \| 2.443 \| DISEASES 2086 \| ERV3-1 \| 1.67 \| DISEASES 30816 \| ERVW-1 \| 1.596 \| DISEASES 2152 \| F3 \| 1.265 \| DISEASES 2268 \| FGR \| 1.853 \| DISEASES 2317 \| FLNB \| 2.188 \| DISEASES 2520 \| GAST \| 1.304 \| DISEASES 2643 \| GCH1 \| 1.312 \| DISEASES 2689 \| GH2 \| 2.692 \| DISEASES 2706 \| GJB2 \| 1.334 \| DISEASES 2880 \| GPX5 \| 1.787 \| DISEASES 2993 \| GYPA \| 1.298 \| DISEASES 3135 \| HLA-G \| 1.791 \| DISEASES 3284 \| HSD3B2 \| 1.114 \| DISEASES 3481 \| IGF2 \| 2.829 \| DISEASES 3486 \| IGFBP3 \| 2.125 \| DISEASES 9798 \| IST1 \| 1.904 \| DISEASES 51477 \| ISYNA1 \| 2.174 \| DISEASES 8972 \| MGAM \| 1.558 \| DISEASES 4295 \| MLN \| 1.833 \| DISEASES 25902 \| MTHFD1L \| 2.005 \| DISEASES 4524 \| MTHFR \| 1.009 \| DISEASES 4878 \| NPPA \| 1.37 \| DISEASES 5053 \| PAH \| 1.41 \| DISEASES 60676 \| PAPPA2 \| 2.127 \| DISEASES 5083 \| PAX9 \| 1.195 \| DISEASES 8654 \| PDE5A \| 3.31 \| DISEASES 5228 \| PGF \| 3.262 \| DISEASES 5360 \| PLTP \| 1.695 \| DISEASES 5447 \| POR \| 1.171 \| DISEASES 5879 \| RAC1 \| 1.18 \| DISEASES 6007 \| RHD \| 2.005 \| DISEASES 795 \| S100G \| 1.385 \| DISEASES 6342 \| SCP2 \| 1.295 \| DISEASES 866 \| SERPINA6 \| 2.233 \| DISEASES 871 \| SERPINH1 \| 1.634 \| DISEASES 11000 \| SLC27A3 \| 2.435 \| DISEASES 64078 \| SLC28A3 \| 1.46 \| DISEASES 6513 \| SLC2A1 \| 2.279 \| DISEASES 144195 \| SLC2A14 \| 3.114 \| DISEASES 6518 \| SLC2A5 \| 1.016 \| DISEASES 7779 \| SLC30A1 \| 1.352 \| DISEASES 23446 \| SLC44A1 \| 1.957 \| DISEASES 57153 \| SLC44A2 \| 2.092 \| DISEASES 6546 \| SLC8A1 \| 1.079 \| DISEASES 6547 \| SLC8A3 \| 1.622 \| DISEASES 94161 \| SNORD46 \| 1.735 \| DISEASES 6625 \| SNRNP70 \| 1.716 \| DISEASES 6649 \| SOD3 \| 1.586 \| DISEASES 55553 \| SOX6 \| 1.311 \| DISEASES 10011 \| SRA1 \| 1.82 \| DISEASES 6736 \| SRY \| 1.132 \| DISEASES 7018 \| TF \| 1.481 \| DISEASES 7124 \| TNF \| 1.593 \| DISEASES 440730 \| TRIM67 \| 2.054 \| DISEASES 7273 \| TTN \| 1.124 \| DISEASES 6675 \| UAP1 \| 1.925 \| DISEASES 29979 \| UBQLN1 \| 1.306 \| DISEASES 137970 \| UNC5D \| 2.165 \| DISEASES 7417 \| VDAC2 \| 1.63 \| DISEASES 23038 \| WDTC1 \| 1.755 \| DISEASES 100128252 \| ZNF667-AS1 \| 1.415 \| DISEASES
Locus	(Waiting for update.)

Disease ID	860
Disease	alveolar capillary dysplasia with misalignment of pulmonary veins
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:27) HP:0002092 \| Pulmonary artery hypertension \| 51 HP:0002835 \| Aspiration \| 2 HP:0012417 \| Hypocapnia \| 1 HP:0011566 \| Cor triatriatum dexter \| 1 HP:0006695 \| Atrioventricular septal defect, partial \| 1 HP:0040187 \| Neonatal sepsis \| 1 HP:0002089 \| Hypoplastic lungs \| 1 HP:0009800 \| gestational diabetes \| 1 HP:0001669 \| Transposition of the great arteries \| 1 HP:0002615 \| Low blood pressure \| 1 HP:0001511 \| Prenatal onset growth retardation \| 1 HP:0000822 \| Hypertension \| 1 HP:0001873 \| Low platelet count \| 1 HP:0001999 \| Facial dysmorphism \| 1 HP:0005180 \| Tricuspid insufficiency \| 1 HP:0000047 \| Hypospadias \| 1 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0003712 \| Hypertrophic muscles \| 1 HP:0100790 \| Hernia \| 1 HP:0100806 \| Sepsis \| 1 HP:0001903 \| Anemia \| 1 HP:0001655 \| Patent foramen ovale \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0001941 \| acidemia \| 1 HP:0000855 \| Insulin resistance \| 1 HP:0001629 \| Ventricular septal defects \| 1 HP:0002878 \| Respiratory failure \| 1

Disease ID	860
Disease	alveolar capillary dysplasia with misalignment of pulmonary veins
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0036690 \| sepsis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909336	NA	2294	FOXF1	umls:C0031190	CLINVAR	NA	0.363528744	NA	FOXF1;FENDRR	16	86510794	C	A
rs121909337	NA	2294	FOXF1	umls:C0031190	CLINVAR	NA	0.363528744	NA	FOXF1	16	86513083	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	860
Disease	alveolar capillary dysplasia with misalignment of pulmonary veins
Case	(Waiting for update.)

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