MCID: CMB083
MIFTS: 16

Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Combined Immunodeficiency and Megaloblastic Anemia with or...

MalaCards integrated aliases for Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia:

Name: Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia 57 75 6
Cimah 57 75
Methylenetetrahydrofolate Dehydrogenase 1 Deficiency 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable clinical presentation
patients respond to folinic acid supplementation


Classifications:



External Ids:

OMIM 57 617780
MeSH 44 D008661

Summaries for Combined Immunodeficiency and Megaloblastic Anemia with or...

OMIM : 57 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016). (617780)

MalaCards based summary : Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia, is also known as cimah. An important gene associated with Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia is MTHFD1 (Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1). Affiliated tissues include t cells, b cells and nk cells.

UniProtKB/Swiss-Prot : 75 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia: An autosomal recessive disorder due to an inborn error of folate metabolism. Variable clinical manifestations include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, and lymphopenia.

Related Diseases for Combined Immunodeficiency and Megaloblastic Anemia with or...

Symptoms & Phenotypes for Combined Immunodeficiency and Megaloblastic Anemia with or...

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
vomiting

Immunology:
recurrent infections
hypogammaglobulinemia
autoimmune disease (in some patients)
low nk cells
low t cells
more
Laboratory Abnormalities:
decreased methylcobalamin
normal serum cobalamin

Respiratory:
recurrent pulmonary infections

Neurologic Central Nervous System:
seizures (in 1 patient)
mental retardation, mild (in 1 patient)

Genitourinary External Genitalia Female:
moniliasis

Neurologic Behavioral Psychiatric Manifestations:
asthenia

Hematology:
pancytopenia
lymphopenia
thrombocytosis
macrocytic anemia
megaloblastic anemia
more
Skin Nails Hair Skin:
eczema

Skeletal:
septic arthritis

Abdomen Liver:
liver fibrosis

Head And Neck Ears:
hearing loss, mild (in 1 patient)

Genitourinary Kidneys:
atypical hemolytic uremic syndrome

Metabolic Features:
hyperhomocysteinemia (in some patients)


Clinical features from OMIM:

617780

Drugs & Therapeutics for Combined Immunodeficiency and Megaloblastic Anemia with or...

Search Clinical Trials , NIH Clinical Center for Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia

Genetic Tests for Combined Immunodeficiency and Megaloblastic Anemia with or...

Anatomical Context for Combined Immunodeficiency and Megaloblastic Anemia with or...

MalaCards organs/tissues related to Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia:

41
T Cells, B Cells, Nk Cells, Liver

Publications for Combined Immunodeficiency and Megaloblastic Anemia with or...

Variations for Combined Immunodeficiency and Megaloblastic Anemia with or...

ClinVar genetic disease variations for Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MTHFD1 NM_005956.3(MTHFD1): c.727+1G> A single nucleotide variant Pathogenic rs781065280 GRCh37 Chromosome 14, 64886644: 64886644
2 MTHFD1 NM_005956.3(MTHFD1): c.727+1G> A single nucleotide variant Pathogenic rs781065280 GRCh38 Chromosome 14, 64419926: 64419926
3 MTHFD1 NM_005956.3(MTHFD1): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs141210410 GRCh38 Chromosome 14, 64417926: 64417926
4 MTHFD1 NM_005956.3(MTHFD1): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs141210410 GRCh37 Chromosome 14, 64884644: 64884644
5 MTHFD1 NM_005956.3(MTHFD1): c.806C> T (p.Thr269Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 64424882: 64424882
6 MTHFD1 NM_005956.3(MTHFD1): c.806C> T (p.Thr269Ile) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 64891600: 64891600
7 MTHFD1 NM_005956.3(MTHFD1): c.1674G> A (p.Thr558=) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 64905890: 64905890
8 MTHFD1 NM_005956.3(MTHFD1): c.1674G> A (p.Thr558=) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 64439172: 64439172

Expression for Combined Immunodeficiency and Megaloblastic Anemia with or...

Search GEO for disease gene expression data for Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia.

Pathways for Combined Immunodeficiency and Megaloblastic Anemia with or...

GO Terms for Combined Immunodeficiency and Megaloblastic Anemia with or...

Sources for Combined Immunodeficiency and Megaloblastic Anemia with or...

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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