Rh deficiency syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
RH-NULL DISEASE, INCLUDED RHN RH DEFICIENCY SYNDROME, INCLUDED Rh-null syndrome |
Number of Symptoms | 11 |
OrphanetNr: | 71275 |
OMIM Id: |
268150
|
ICD-10: |
D58.8 |
UMLs: |
C0272052 |
MeSH: |
|
MedDRA: |
|
Snomed: |
37272000 |
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive [Orphanet] |
Age of onset: |
No data available [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Stomatocytosis
-Rare genetic disease -Rare hematologic disease |
Symptom Information:
|
(HPO:0000952) | Jaundice | 105 / 7739 | ||||
|
(HPO:0004446) | Stomatocytosis | 11 / 7739 | ||||
|
(HPO:0005502) | Increased red cell osmotic fragility | 5 / 7739 | ||||
|
(HPO:0001878) | Hemolytic anemia | 83 / 7739 | ||||
|
(HPO:0008282) | Unconjugated hyperbilirubinemia | 9 / 7739 | ||||
|
(OMIM) | No red cell Rh blood group antigens | 1 / 7739 | ||||
|
(OMIM) | Shortened red cell survival | 1 / 7739 | ||||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
(OMIM) | Weak reaction with anti-U and anti-S | 1 / 7739 | ||||
|
(OMIM) | Rh-null | 1 / 7739 | ||||
|
(OMIM) | Increased fetal hemoglobin | 5 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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