CIMAH
MCID: CMB083
MIFTS: 20

Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia (CIMAH)

Categories: Genetic diseases, Immune diseases, Mental diseases, Metabolic diseases, Neuronal 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 58 76 6
Cimah 58 76
Methylenetetrahydrofolate Dehydrogenase 1 Deficiency 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable clinical presentation
patients respond to folinic acid supplementation


Classifications:



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

OMIM : 58 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, liver and b cells, and related phenotypes are autoimmunity and seizures

UniProtKB/Swiss-Prot : 76 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...

Human phenotypes related to Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 autoimmunity 33 very rare (1%) HP:0002960
2 seizures 33 HP:0001250
3 intellectual disability, mild 33 HP:0001256
4 pancytopenia 33 HP:0001876
5 decreased antibody level in blood 33 HP:0004313
6 lymphopenia 33 HP:0001888
7 recurrent infections 33 HP:0002719
8 thrombocytosis 33 HP:0001894
9 severe combined immunodeficiency 33 HP:0004430
10 megaloblastic anemia 33 HP:0001889
11 decreased methylcobalamin 33 HP:0003223

Symptoms via clinical synopsis from OMIM:

58
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

Skeletal:
septic arthritis

Abdomen Liver:
liver fibrosis

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

Genitourinary Kidneys:
atypical hemolytic uremic syndrome

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

Neurologic Behavioral Psychiatric Manifestations:
asthenia

Respiratory:
recurrent pulmonary infections

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

Genitourinary External Genitalia Female:
moniliasis

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:

42
T Cells, Liver, B Cells, Nk Cells

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

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

UniProtKB/Swiss-Prot genetic disease variations for Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia:

76
# Symbol AA change Variation ID SNP ID
1 MTHFD1 p.Ser49Phe VAR_074075
2 MTHFD1 p.Arg173Cys VAR_074076
3 MTHFD1 p.Thr269Ile VAR_074077
4 MTHFD1 p.Leu51Pro VAR_080873

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

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 MTHFD1 NM_005956.4(MTHFD1): c.727+1G> A single nucleotide variant Pathogenic rs781065280 GRCh37 Chromosome 14, 64886644: 64886644
2 MTHFD1 NM_005956.4(MTHFD1): c.727+1G> A single nucleotide variant Pathogenic rs781065280 GRCh38 Chromosome 14, 64419926: 64419926
3 MTHFD1 NM_005956.4(MTHFD1): c.517C> T (p.Arg173Cys) single nucleotide variant Likely pathogenic rs141210410 GRCh38 Chromosome 14, 64417926: 64417926
4 MTHFD1 NM_005956.4(MTHFD1): c.517C> T (p.Arg173Cys) single nucleotide variant Likely pathogenic rs141210410 GRCh37 Chromosome 14, 64884644: 64884644
5 MTHFD1 NM_005956.4(MTHFD1): c.806C> T (p.Thr269Ile) single nucleotide variant Likely pathogenic rs1555337681 GRCh38 Chromosome 14, 64424882: 64424882
6 MTHFD1 NM_005956.4(MTHFD1): c.806C> T (p.Thr269Ile) single nucleotide variant Likely pathogenic rs1555337681 GRCh37 Chromosome 14, 64891600: 64891600
7 MTHFD1 NM_005956.4(MTHFD1): c.1674G> A (p.Thr558=) single nucleotide variant Pathogenic rs1456143398 GRCh37 Chromosome 14, 64905890: 64905890
8 MTHFD1 NM_005956.4(MTHFD1): c.1674G> A (p.Thr558=) single nucleotide variant Pathogenic rs1456143398 GRCh38 Chromosome 14, 64439172: 64439172
9 MTHFD1 NM_005956.4(MTHFD1): c.146C> T (p.Ser49Phe) single nucleotide variant Likely pathogenic rs370444838 GRCh37 Chromosome 14, 64877827: 64877827
10 MTHFD1 NM_005956.4(MTHFD1): c.146C> T (p.Ser49Phe) single nucleotide variant Likely pathogenic rs370444838 GRCh38 Chromosome 14, 64411109: 64411109
11 MTHFD1 NM_005956.4(MTHFD1): c.673G> T (p.Glu225Ter) single nucleotide variant Pathogenic rs760889414 GRCh37 Chromosome 14, 64886589: 64886589
12 MTHFD1 NM_005956.4(MTHFD1): c.673G> T (p.Glu225Ter) single nucleotide variant Pathogenic rs760889414 GRCh38 Chromosome 14, 64419871: 64419871
13 MTHFD1 NG_012450.1: g.(45534_?)_(?_47555)del deletion Pathogenic
14 MTHFD1 NM_005956.4(MTHFD1): c.152T> C (p.Leu51Pro) single nucleotide variant Likely pathogenic rs1555336810 GRCh38 Chromosome 14, 64411115: 64411115
15 MTHFD1 NM_005956.4(MTHFD1): c.152T> C (p.Leu51Pro) single nucleotide variant Likely pathogenic rs1555336810 GRCh37 Chromosome 14, 64877833: 64877833

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...

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