PAICS deficiency
Findings
No curated finding names PAICS deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inborn disorder of purine metabolism characterized by multiple congenital anomalies/dysmorphic features including craniofacial dysmorphism especially of the midface with flat face, low set ears, nasal hypoplasia, low nasal bridge, choanal atresia/stenosis and hypertelorism. Other malformations include, esophageal atresia with or without treacheoesophageal fistula, as well as malformations of ribs, lungs, vertebrae, legs, toes and fingers.
Definition from the Mondo Disease Ontology (MONDO:0859003), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal death · Fetal onset
HPO, annotations 2026-09-02
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 1 reported patient
- BrachycephalyHPOHP:0000248
- 2 of 2 reported patients
- Coronal hypospadiasHPOHP:0008743
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- Esophageal atresiaHPOHP:0002032
- 2 of 2 reported patients
- Flat faceHPOHP:0012368
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PAICSHGNC:8587
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: PAICS deficiency
- Also called
- phosphoribosylaminoimidazole carboxylase deficiency