Rare diseases · Sign or symptom
Abnormality of coagulation
HP:0001928
What it means
An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.
Rare diseases that can present with this35
Very common80–99%
8- Attenuated Chédiak-Higashi syndrome
- Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- Multifocal infantile hemangioma with extracutenous involvement
- Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- Progressive familial intrahepatic cholestasis
- Stormorken-Sjaastad-Langslet syndrome
- Thrombocytopenia-absent radius syndrome
- Von Willebrand disease
Common30–79%
14- ALG2-CDG
- Blue rubber bleb nevus syndrome
- Classic galactosemia
- Congenital bile acid synthesis defect type 1
- Dyskeratosis congenita
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Fetal cytomegalovirus syndrome
- Gaucher disease type 1
- Hepatic veno-occlusive disease
- Hoyeraal-Hreidarsson syndrome
- Lethal hemolytic anemia-genital anomalies syndrome
- Noonan syndrome
- RFT1-CDG
- S-adenosylhomocysteine hydrolase deficiency
Sometimes5–29%
13- Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- Aplasia cutis-myopia syndrome
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- Dubin-Johnson syndrome
- Gaucher disease
- Indomethacin embryofetopathy
- Malignant peritoneal mesothelioma
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
and 5 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Abnormal blood coagulation studies · Blood coagulation disorder · Coagulation abnormalities · Coagulation abnormality · Haemorrhagic disorders
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.