MEGAF
MCID: MGL039
MIFTS: 11

Megaloblastic Anemia, Folate-Responsive (MEGAF)

Categories: Genetic diseases

Aliases & Classifications for Megaloblastic Anemia, Folate-Responsive

MalaCards integrated aliases for Megaloblastic Anemia, Folate-Responsive:

Name: Megaloblastic Anemia, Folate-Responsive 57
Folate-Responsive Megaloblastic Anemia 6
Folate Level in Erythrocytes 57
Megaf 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in second decade
anemia responds to folate supplementation
one patient has been reported (last curated april 2021)


Classifications:



External Ids:

OMIM® 57 601775

Summaries for Megaloblastic Anemia, Folate-Responsive

OMIM® : 57 Folate-responsive megaloblastic anemia (MEGAF) is an autosomal recessive metabolic disorder characterized by megaloblastic anemia resulting from decreased folate transport into erythrocytes. Although serum levels of folate are normal, there is folate deficiency in tissues, including erythrocytes and possibly nerve cells. Serum homocysteine levels are increased and vitamin B12 levels may be decreased. Treatment with oral folate corrects the anemia and normalizes homocysteine (summary by Svaton et al., 2020) (601775) (Updated 20-May-2021)

MalaCards based summary : Megaloblastic Anemia, Folate-Responsive, is also known as folate-responsive megaloblastic anemia. An important gene associated with Megaloblastic Anemia, Folate-Responsive is SLC19A1 (Solute Carrier Family 19 Member 1).

Related Diseases for Megaloblastic Anemia, Folate-Responsive

Symptoms & Phenotypes for Megaloblastic Anemia, Folate-Responsive

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
hemolytic anemia
schistocytes
megaloblastic anemia, episodic
decreased folate in erythrocytes
hypersegmented neutrophils
more
Neurologic Peripheral Nervous System:
demyelination seen on emg (in some patients)

Laboratory Abnormalities:
increased serum bilirubin
normal serum folate
hyperhomocysteinemia
low vitamin b12
decreased tissue levels of folate

Clinical features from OMIM®:

601775 (Updated 20-May-2021)

Drugs & Therapeutics for Megaloblastic Anemia, Folate-Responsive

Search Clinical Trials , NIH Clinical Center for Megaloblastic Anemia, Folate-Responsive

Genetic Tests for Megaloblastic Anemia, Folate-Responsive

Anatomical Context for Megaloblastic Anemia, Folate-Responsive

Publications for Megaloblastic Anemia, Folate-Responsive

Articles related to Megaloblastic Anemia, Folate-Responsive:

# Title Authors PMID Year
1
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia. 6 57
32276275 2020
2
Genetic effects on variation in red-blood-cell folate in adults: implications for the familial aggregation of neural tube defects. 57
9012417 1997

Variations for Megaloblastic Anemia, Folate-Responsive

ClinVar genetic disease variations for Megaloblastic Anemia, Folate-Responsive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC19A1 NM_194255.4(SLC19A1):c.631TTC[1] (p.Phe212del) Microsatellite Pathogenic 1054650 GRCh37: 21:46951616-46951618
GRCh38: 21:45531702-45531704

Expression for Megaloblastic Anemia, Folate-Responsive

Search GEO for disease gene expression data for Megaloblastic Anemia, Folate-Responsive.

Pathways for Megaloblastic Anemia, Folate-Responsive

GO Terms for Megaloblastic Anemia, Folate-Responsive

Sources for Megaloblastic Anemia, Folate-Responsive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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