PHN
MCID: PLM124
MIFTS: 21

Pulmonary Hypertension, Neonatal (PHN)

Categories: Genetic diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Hypertension, Neonatal

MalaCards integrated aliases for Pulmonary Hypertension, Neonatal:

Name: Pulmonary Hypertension, Neonatal 57 72
Pulmonary Hypertension, Neonatal, Susceptibility to 57 29 6
Phn 57 72
Hypertension, Pulmonary, Neonatal, Susceptibility to 39

Classifications:



External Ids:

OMIM® 57 615371
MeSH 44 D006976

Summaries for Pulmonary Hypertension, Neonatal

UniProtKB/Swiss-Prot : 72 Pulmonary hypertension, neonatal: A disease characterized by elevated pulmonary artery pressure. Pulmonary hypertension in the neonate is associated with multiple underlying problems such as respiratory distress syndrome, meconium aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary dysplasia, sepsis, or congenital heart disease.

MalaCards based summary : Pulmonary Hypertension, Neonatal, also known as pulmonary hypertension, neonatal, susceptibility to, is related to herpes zoster and postherpetic neuralgia. An important gene associated with Pulmonary Hypertension, Neonatal is CPS1 (Carbamoyl-Phosphate Synthase 1). Affiliated tissues include liver and heart.

More information from OMIM: 615371

Related Diseases for Pulmonary Hypertension, Neonatal

Graphical network of the top 20 diseases related to Pulmonary Hypertension, Neonatal:



Diseases related to Pulmonary Hypertension, Neonatal

Symptoms & Phenotypes for Pulmonary Hypertension, Neonatal

Clinical features from OMIM®:

615371 (Updated 20-May-2021)

Drugs & Therapeutics for Pulmonary Hypertension, Neonatal

Search Clinical Trials , NIH Clinical Center for Pulmonary Hypertension, Neonatal

Genetic Tests for Pulmonary Hypertension, Neonatal

Genetic tests related to Pulmonary Hypertension, Neonatal:

# Genetic test Affiliating Genes
1 Pulmonary Hypertension, Neonatal, Susceptibility to 29 CPS1

Anatomical Context for Pulmonary Hypertension, Neonatal

MalaCards organs/tissues related to Pulmonary Hypertension, Neonatal:

40
Liver, Heart

Publications for Pulmonary Hypertension, Neonatal

Articles related to Pulmonary Hypertension, Neonatal:

# Title Authors PMID Year
1
Personalized genomic medicine: lessons from the exome. 57 6
21767969 2011
2
Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. 6 57
11407344 2001
3
Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. 6
20154341 2010
4
Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study. 57
17188582 2007
5
Inborn errors of metabolism: the flux from Mendelian to complex diseases. 6
16708072 2006
6
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. 6
15465784 2004
7
Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function. 6
14718356 2004
8
Prenatal Tdap immunization and risk of maternal and newborn adverse events. 61
28669620 2017
9
Clinical practice. The impact of lung disease on the heart and cardiac disease on the lungs. 61
19639339 2010

Variations for Pulmonary Hypertension, Neonatal

ClinVar genetic disease variations for Pulmonary Hypertension, Neonatal:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPS1 NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter) SNV Pathogenic 552571 rs1414143303 GRCh37: 2:211525236-211525236
GRCh38: 2:210660512-210660512
2 CPS1 NM_001875.5(CPS1):c.4196A>C (p.Asn1399Thr) SNV risk factor 2423 rs121912594 GRCh37: 2:211540486-211540486
GRCh38: 2:210675762-210675762
3 CPS1 NM_001875.5(CPS1):c.209_216dup (p.Phe73fs) Duplication Likely pathogenic 417895 rs1553509010 GRCh37: 2:211438103-211438104
GRCh38: 2:210573379-210573380
4 CPS1 NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) SNV Uncertain significance 196974 rs150966847 GRCh37: 2:211540542-211540542
GRCh38: 2:210675818-210675818
5 CPS1 NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) SNV Uncertain significance 235659 rs141373204 GRCh37: 2:211521333-211521333
GRCh38: 2:210656609-210656609
6 CPS1 NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser) SNV Uncertain significance 567695 rs150485422 GRCh37: 2:211504733-211504733
GRCh38: 2:210640009-210640009

Expression for Pulmonary Hypertension, Neonatal

Search GEO for disease gene expression data for Pulmonary Hypertension, Neonatal.

Pathways for Pulmonary Hypertension, Neonatal

GO Terms for Pulmonary Hypertension, Neonatal

Sources for Pulmonary Hypertension, Neonatal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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