PHN
MCID: PLM124
MIFTS: 17

Pulmonary Hypertension, Neonatal (PHN)

Categories: Genetic diseases

Aliases & Classifications for Pulmonary Hypertension, Neonatal

MalaCards integrated aliases for Pulmonary Hypertension, Neonatal:

Name: Pulmonary Hypertension, Neonatal 58 76
Pulmonary Hypertension, Neonatal, Susceptibility to 58 30 6
Phn 58 76
Hypertension, Pulmonary, Neonatal, Susceptibility to 41

Classifications:



External Ids:

OMIM 58 615371
MeSH 45 D006976

Summaries for Pulmonary Hypertension, Neonatal

UniProtKB/Swiss-Prot : 76 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).

Description 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

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 30 CPS1

Anatomical Context for Pulmonary Hypertension, Neonatal

Publications for Pulmonary Hypertension, Neonatal

Articles related to Pulmonary Hypertension, Neonatal:

# Title Authors Year
1
Personalized genomic medicine: lessons from the exome. ( 21767969 )
2011
2
Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. ( 20154341 )
2010
3
Inborn errors of metabolism: the flux from Mendelian to complex diseases. ( 16708072 )
2006
4
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. ( 15465784 )
2004
5
Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function. ( 14718356 )
2004
6
Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. ( 11407344 )
2001

Variations for Pulmonary Hypertension, Neonatal

ClinVar genetic disease variations for Pulmonary Hypertension, Neonatal:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPS1 NM_001875.4(CPS1): c.4196A> C (p.Asn1399Thr) single nucleotide variant risk factor rs121912594 GRCh37 Chromosome 2, 211540486: 211540486
2 CPS1 NM_001875.4(CPS1): c.4196A> C (p.Asn1399Thr) single nucleotide variant risk factor rs121912594 GRCh38 Chromosome 2, 210675762: 210675762
3 CPS1 NM_001875.4(CPS1): c.4252C> T (p.Pro1418Ser) single nucleotide variant Uncertain significance rs150966847 GRCh37 Chromosome 2, 211540542: 211540542
4 CPS1 NM_001875.4(CPS1): c.4252C> T (p.Pro1418Ser) single nucleotide variant Uncertain significance rs150966847 GRCh38 Chromosome 2, 210675818: 210675818
5 CPS1 NM_001875.4(CPS1): c.3643A> G (p.Ile1215Val) single nucleotide variant Uncertain significance rs141373204 GRCh37 Chromosome 2, 211521333: 211521333
6 CPS1 NM_001875.4(CPS1): c.3643A> G (p.Ile1215Val) single nucleotide variant Uncertain significance rs141373204 GRCh38 Chromosome 2, 210656609: 210656609
7 CPS1 NM_001875.4(CPS1): c.209_216dup (p.Phe73Lysfs) duplication Likely pathogenic rs1553509010 GRCh37 Chromosome 2, 211438104: 211438111
8 CPS1 NM_001875.4(CPS1): c.209_216dup (p.Phe73Lysfs) duplication Likely pathogenic rs1553509010 GRCh38 Chromosome 2, 210573380: 210573387
9 CPS1 NM_001875.4(CPS1): c.3784C> T (p.Arg1262Ter) single nucleotide variant Pathogenic rs1414143303 GRCh37 Chromosome 2, 211525236: 211525236
10 CPS1 NM_001875.4(CPS1): c.3784C> T (p.Arg1262Ter) single nucleotide variant Pathogenic rs1414143303 GRCh38 Chromosome 2, 210660512: 210660512
11 CPS1 NM_001875.4(CPS1): c.2909A> G (p.Asn970Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 210640009: 210640009
12 CPS1 NM_001875.4(CPS1): c.2909A> G (p.Asn970Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 211504733: 211504733

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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