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Features include always present findings: Red blood cell destruction (hemolytic anemia), Dark urine, and Jaundice.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 1 | Red blood cell destruction (hemolytic anemia) |
Digestive system |
ATP11C encodes ATPase phospholipid transporting 11C (ATP11C blood group) (1,132 aa). Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of the plasma membrane. Highest expression in Cells EBV-transformed lymphocytes (20.2 TPM) and Uterus (19.4 TPM).
X-linked congenital hemolytic anemia is associated with mutations in the ATP11C gene on chromosome X.
ATP11C is classified as a druggable target (Transporter category) with score 0.0.
Genetic testing for ATP11C is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for X-linked congenital hemolytic anemia has been reported in the published literature.
Phenotype severity distribution: 3 always present features.
No clinical trials have been registered for X-linked congenital hemolytic anemia.
34 publications have been identified in PubMed for X-linked congenital hemolytic anemia. Research spans Review / Meta-Analysis (24%), Basic Science / Preclinical (24%), and Case Report / Case Series (21%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 8 | 24% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:02 AM UTC
Online Mendelian Inheritance in Man
Common questions about X-linked congenital hemolytic anemia
1 |
Jaundice |
Age of onset: childhood.
Laboratory research
8 |
24% |
Patient case studies | 7 | 21% |
Disease patterns and progression | 6 | 18% |
Testing and diagnosis research | 5 | 15% |
Shen Y (2026). [PMID: 41688464](https://pubmed.ncbi.nlm.nih.gov/41688464/). *Nature communications*. [Basic Science / Preclinical]
Gohary AE (2026). [PMID: 42149207](https://pubmed.ncbi.nlm.nih.gov/42149207/). *Pediatr Nephrol*. [Case Report / Case Series]
Quesnel K (2026). [PMID: 41724591](https://pubmed.ncbi.nlm.nih.gov/41724591/). *Autism Res*. [Basic Science / Preclinical]
Ghazi IM (2026). [PMID: 41109545](https://pubmed.ncbi.nlm.nih.gov/41109545/). *Clinical immunology (Orlando, Fla.)*. [Diagnostic / Biomarker]
Bentley AR (2026). [PMID: 41575919](https://pubmed.ncbi.nlm.nih.gov/41575919/). *PloS one*. [Diagnostic / Biomarker]
Ciurej A (2026). [PMID: 41925069](https://pubmed.ncbi.nlm.nih.gov/41925069/). *Pediatr Blood Cancer*. [Case Report / Case Series]
D'Onofrio V (2026). [PMID: 42018644](https://pubmed.ncbi.nlm.nih.gov/42018644/). *Blood Adv*. [Diagnostic / Biomarker]
Ouragini H (2025). [PMID: 40429944](https://pubmed.ncbi.nlm.nih.gov/40429944/). *International journal of molecular sciences*. [Case Report / Case Series]
Noordhuis-Zijderveld A (2025). [PMID: 40484370](https://pubmed.ncbi.nlm.nih.gov/40484370/). *European journal of medical genetics*. [Epidemiology / Natural History]
Tomooka R (2025). [PMID: 40659667](https://pubmed.ncbi.nlm.nih.gov/40659667/). *Nature communications*. [Basic Science / Preclinical]