PHN
MCID: PLM124
MIFTS: 16

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, and has symptoms including sciatica and neuralgia. An important gene associated with Pulmonary Hypertension, Neonatal is CPS1 (Carbamoyl-Phosphate Synthase 1). Affiliated tissues include heart.

Description from OMIM: 615371

Related Diseases for Pulmonary Hypertension, Neonatal

Diseases related to Pulmonary Hypertension, Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 herpes zoster 11.8
2 postherpetic neuralgia 11.7
3 pemphigus foliaceus 10.2
4 body mass index quantitative trait locus 11 10.0
5 body mass index quantitative trait locus 10 10.0
6 body mass index quantitative trait locus 14 10.0
7 fatty liver disease, nonalcoholic 1 10.0
8 body mass index quantitative trait locus 18 10.0
9 body mass index quantitative trait locus 19 10.0
10 pulmonary hypertension 9.8

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

UMLS symptoms related to Pulmonary Hypertension, Neonatal:


sciatica, neuralgia

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

Anatomical Context for Pulmonary Hypertension, Neonatal

MalaCards organs/tissues related to Pulmonary Hypertension, Neonatal:

42
Heart

Publications for Pulmonary Hypertension, Neonatal

Variations for Pulmonary Hypertension, Neonatal

ClinVar genetic disease variations for Pulmonary Hypertension, Neonatal:

6
# 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.209_216dup (p.Phe73Lysfs) duplication Likely pathogenic rs1553509010 GRCh37 Chromosome 2, 211438104: 211438111
4 CPS1 NM_001875.4(CPS1): c.209_216dup (p.Phe73Lysfs) duplication Likely pathogenic rs1553509010 GRCh38 Chromosome 2, 210573380: 210573387

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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