MCID: PLM124
MIFTS: 14

Pulmonary Hypertension, Neonatal

Categories: Genetic diseases

Aliases & Classifications for Pulmonary Hypertension, Neonatal

MalaCards integrated aliases for Pulmonary Hypertension, Neonatal:

Name: Pulmonary Hypertension, Neonatal 57 75
Pulmonary Hypertension, Neonatal, Susceptibility to 57 29 6
Phn 57 75
Hypertension, Pulmonary, Neonatal, Susceptibility to 40

Classifications:



External Ids:

OMIM 57 615371
MeSH 44 D006976

Summaries for Pulmonary Hypertension, Neonatal

UniProtKB/Swiss-Prot : 75 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 postherpetic neuralgia and herpes zoster, and has symptoms including neuralgia and sciatica. 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 postherpetic neuralgia 11.6
2 herpes zoster 11.5
3 pulmonary hypertension 9.8

Symptoms & Phenotypes for Pulmonary Hypertension, Neonatal

Clinical features from OMIM:

615371

UMLS symptoms related to Pulmonary Hypertension, Neonatal:


neuralgia, sciatica

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:

41
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_216dupAAGTGGTT (p.Phe73Lysfs) duplication Likely pathogenic GRCh37 Chromosome 2, 211438104: 211438111
4 CPS1 NM_001875.4(CPS1): c.209_216dupAAGTGGTT (p.Phe73Lysfs) duplication Likely pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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