Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia; Cimah

Description

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia; Cimah

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hypertension
  • Fever
  • Vomiting
  • Intellectual disability, mild
  • Immunodeficiency

And another 27 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia; Cimah Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia; Cimah Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Methylenetetrahydrofolate Dehydrogenase 1 Deficiency (MTHFD1 gene).

By VU University Medical Center Metabolic Unit, PX 1X 009 (Netherlands).

MTHFD1
Specificity
100 %
Genes
100 %
Tetrahydrofolate Metabolism Deficiency NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

SHMT1, SLC19A1, MTHFD1L, DHFR, FOLR1, FPGS, MTHFD1, MTHFS, PTS
Specificity
12 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB , (...)

View the complete list with 476 more genes
Specificity
1 %
Genes
100 %
MTHFD1.

By Fulgent Genetics Fulgent Genetics (United States).

MTHFD1
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics (Finland).

RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF , (...)

View the complete list with 218 more genes
Specificity
1 %
Genes
100 %
Neural Tube Defects and Related Disorders , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics (Spain).

VANGL2, VANGL1, MMACHC, FUZ, MTHFD1, MTHFR, MTR, MTRR
Specificity
13 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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