Paroxysmal cold hemoglobinuria
General Information (adopted from Orphanet):
Synonyms, Signs: |
PCH Donath-Landsteiner hemolytic anemia Donath-Landsteiner syndrome |
Number of Symptoms | 9 |
OrphanetNr: | 90035 |
OMIM Id: |
|
ICD-10: |
D59.6 |
UMLs: |
C0272129 |
MeSH: |
C538618 |
MedDRA: |
|
Snomed: |
127057004 62871001 |
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Multifactorial [Orphanet] |
Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Autoimmune hemolytic anemia, cold type
-Rare hematologic disease |
Symptom Information:
|
(HPO:0012086) | Abnormal urinary color | Very frequent [Orphanet] | 19 / 7739 | |||
|
(HPO:0002315) | Headache | Occasional [Orphanet] | 175 / 7739 | |||
|
(HPO:0005059) | Arthralgia/arthritis | Very frequent [Orphanet] | 141 / 7739 | |||
|
(HPO:0002017) | Nausea and vomiting | Occasional [Orphanet] | 134 / 7739 | |||
|
(HPO:0002014) | Diarrhea | Occasional [Orphanet] | 225 / 7739 | |||
|
(HPO:0003010) | Prolonged bleeding time | Very frequent [Orphanet] | 88 / 7739 | |||
|
(HPO:0001878) | Hemolytic anemia | Very frequent [Orphanet] | 83 / 7739 | |||
|
(HPO:0001945) | Fever | Very frequent [Orphanet] | 218 / 7739 | |||
|
(HPO:0002205) | Recurrent respiratory infections | Very frequent [Orphanet] | 254 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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