Gene Information
phenylalanine hydroxylase [Source:HGNC Symbol;Acc:HGNC:8582]
PAH variants are associated with 5 diseases including maternal phenylketonuria and classic phenylketonuria and 3 others, with 30 documented clinical phenotypes.
The PAH gene is associated with 5 medical conditions, including:
Research has identified 30 phenotypic features associated with PAH variants:
Eczematoid dermatitis
HP:0000964
Generalized hypopigmentation
HP:0007513
Hyperactivity
HP:0000752
Scleroderma
HP:0100324
Microcephaly
HP:0000252
Elevated urinary phenylpyruvic acid level
HP:0034458
Pregnancy history
HP:0002686
Elevated urinary gamma-glutamylphenylalanine level
HP:6000281
Seizure
HP:0001250
Fair hair
HP:0002286
Cataract
HP:0000518
Maternal hyperphenylalaninemia
HP:0100610
Depression
HP:0000716
Self-mutilation
HP:0000742
Compulsive behaviors
HP:0000722
ClinVar contains 10 variants associated with PAH. Below are some notable variants:
NM_000277.3(PAH):c.1093del (p.Leu365fs)
Likely pathogenicVCV004059237
Review: no assertion criteria provided
NM_000277.3(PAH):c.851G>A (p.Cys284Tyr)
Likely pathogenicVCV004059225
Review: no assertion criteria provided
NM_000277.3(PAH):c.838G>T (p.Glu280Ter)
Likely pathogenicVCV004059218
Review: no assertion criteria provided
NM_000277.3(PAH):c.185_188dup (p.His64fs)
PathogenicVCV003907324
Review: criteria provided, single submitter
NM_000277.3(PAH):c.139G>T (p.Ala47Ser)
Uncertain significanceVCV003907193
Review: criteria provided, single submitter
There are 10,183 publications about PAH indexed in PubMed. Below are some recent papers:
Whole genome sequencing, characterization and analysis of coronene degrading bacterial strain Halomonas elongata.
Rafic T, Alarawi M, Alkhnbashi OS
PMID: 41259345
•
2025
•
PLoS One
Bihourly Monitoring Reveals the Significance of Photochemical Removal of PAHs in the Urban Atmosphere.
Cheng Z, Qiu X, Shi X
PMID: 41258652
•
2025 Nov 19
•
Environ Sci Technol
Characteristics, Treatment Patterns and Outcomes of Patients with Pulmonary Arterial Hypertension by Race and Ethnicity Using Real-World Data from the Combined OPUS/OrPHeUS Studies.
Melendres-Groves LD, Channick RN, Chin KM
PMID: 41258625
•
2025 Nov 19
•
Adv Ther
Liver angiocrine myeloid-derived growth factor protects against endothelial dysfunction in pulmonary arterial hypertension.
Singh N, Volpicelli T, Pi H
PMID: 41256637
•
2025 Oct 4
•
bioRxiv
VUV Photoionization Study of the Gas Formation of the Indene-A Molecular Building Block of Nonplanar PAHs.
Li W, Zhang YF, Wang CY
PMID: 41254491
•
2025 Nov 18
•
J Phys Chem A
Get instant, comprehensive insights on PAH variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025