Disorder "Diamond-Blackfan anemia"
Found 2 records
Disorder information
Disorder name:
Diamond-Blackfan anemia
Disoder ID:
OMIM entry:
OMIM:614900
,OMIM:105650
,OMIM:606129
,OMIM:610629
,OMIM:612527
,OMIM:612528
,OMIM:612561
,OMIM:612562
,OMIM:612563
,OMIM:613308
,OMIM:613309
,OMIM:615550
,OMIM:615909
Synonyms:
Blackfan - Diamond syndrome, chronic constitutional pure red cell anaemia
Definition:
A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has material basis insufficient levels of red blood cells due to bone marrow dysfunction.
Modifier statisitcs
Record:
2
Gene:
1
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| MPL | MPL:rs146372205 | Expressivity | Altered severity | Assessment of genotype–phenotype associations, P=0.002 | c-Mpl mutations could influence the disease severitymore | more |
| MPL:rs150004498 | Expressivity | Altered severity | Assessment of genotype–phenotype associations, P=0.002 | c-Mpl mutations could influence the disease severitymore | more |
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