MACROCYTOSIS, FAMILIAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 600084
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
2
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
(OMIM) MCV ranging from 110 to 125 fl 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Benign macrocytosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Macrocytosis (large erythrocytes) is commonly associated with anemia and megaloblastosis in vitamin B12 or folate deficiency, cytotoxic drug treatment, and genetic disorders such as orotic aciduria (258900), Imerslund-Grasbeck syndrome (261100), and Lesch-Nyhan syndrome (308000). Nonmegaloblastic macrocytosis can be ...