Immunodeficiency 46 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Immunodeficiency 46

MalaCards integrated aliases for Immunodeficiency 46:

Name: Immunodeficiency 46 ⁵⁷ ¹² ⁷² ²⁹ ⁶

Imd46 ⁵⁷ ¹² ⁷²

Combined Immunodeficiency Due to Tfrc Deficiency ¹² ⁵⁸

Tfrc-Related Combined Immunodeficiency ¹² ⁵⁸

Cid Due to Tfrc Deficiency ¹² ⁵⁸

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
early death may occur
two unrelated families have been reported (last curated january 2016)

HPO:

³¹

immunodeficiency 46:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

Disease Ontology ¹² DOID:0111948

OMIM® ⁵⁷ 616740

OMIM Phenotypic Series ⁵⁷ PS300755

MeSH ⁴⁴ D007153

Orphanet ⁵⁸ ORPHA476113

MedGen ⁴¹ C4225219 CN234781

SNOMED-CT via HPO ⁶⁸ 119250001 165397008 165517008 more

UMLS ⁷⁰ C4225219

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Summaries for Immunodeficiency 46

Disease Ontology : ¹² A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has material basis in homozygous or compound heterozygous mutation in TFRC on chromosome 3q29.

MalaCards based summary : Immunodeficiency 46, also known as imd46, is related to immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis. An important gene associated with Immunodeficiency 46 is TFRC (Transferrin Receptor). Affiliated tissues include t cells and b cells, and related phenotypes are failure to thrive and anemia

UniProtKB/Swiss-Prot : ⁷² Immunodeficiency 46: An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia.

More information from OMIM: 616740 PS300755

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Related Diseases for Immunodeficiency 46

Diseases related to Immunodeficiency 46 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis	11.0

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Symptoms & Phenotypes for Immunodeficiency 46

Human phenotypes related to Immunodeficiency 46:

³¹ (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	failure to thrive ³¹	very rare (1%)	HP:0001508
2	anemia ³¹	very rare (1%)	HP:0001903
3	conjunctivitis ³¹	very rare (1%)	HP:0000509
4	meningitis ³¹	very rare (1%)	HP:0001287
5	chronic diarrhea ³¹	very rare (1%)	HP:0002028
6	sepsis ³¹	very rare (1%)	HP:0100806
7	recurrent sinopulmonary infections ³¹	very rare (1%)	HP:0005425
8	chronic oral candidiasis ³¹	very rare (1%)	HP:0009098
9	intermittent thrombocytopenia ³¹	very rare (1%)	HP:0004854
10	immunodeficiency ³¹		HP:0002721
11	neutropenia ³¹		HP:0001875
12	decreased circulating antibody level ³¹		HP:0004313

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Immunology:
recurrent infections
hypogammaglobulinemia
primary combined immunodeficiency
decreased numbers of memory b cells
defective immunoglobulin class switching
more

Hematology:
anemia, mild
thrombocytopenia, intermittent

Clinical features from OMIM®:

616740 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Immunodeficiency 46

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 46

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Genetic Tests for Immunodeficiency 46

Genetic tests related to Immunodeficiency 46:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 46 ²⁹	TFRC

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Anatomical Context for Immunodeficiency 46

MalaCards organs/tissues related to Immunodeficiency 46:

⁴⁰

T Cells, B Cells

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Publications for Immunodeficiency 46

Articles related to Immunodeficiency 46:

#	Title	Authors	PMID	Year
1	A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. ⁶ ⁵⁷	Jabara HH...Geha RS	26642240	2016
2	Predictors of Clostridium difficile infections in hospitalized children. ⁶¹	Samady W...Fisher ES	24343932	2014

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Genes for Immunodeficiency 46

Genes related to Immunodeficiency 46 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TFRC	Transferrin Receptor	Protein Coding	1666.5	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26642240

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Variations for Immunodeficiency 46

ClinVar genetic disease variations for Immunodeficiency 46:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TFRC	NM_001128148.3(TFRC):c.1198+1G>T	SNV	Pathogenic	587621	rs1341988492	GRCh37: 3:195792313-195792313 GRCh38: 3:196065442-196065442
2	TFRC	NM_001128148.3(TFRC):c.58T>C (p.Tyr20His)	SNV	Conflicting interpretations of pathogenicity	218163	rs863225436	GRCh37: 3:195802210-195802210 GRCh38: 3:196075339-196075339
3	TFRC	NM_001128148.3(TFRC):c.1181A>G (p.Lys394Arg)	SNV	Uncertain significance	1028096		GRCh37: 3:195792331-195792331 GRCh38: 3:196065460-196065460
4	TFRC	NM_001128148.3(TFRC):c.1678-3C>T	SNV	Uncertain significance	1028097		GRCh37: 3:195782175-195782175 GRCh38: 3:196055304-196055304
5	TFRC	NM_001128148.3(TFRC):c.464G>C (p.Arg155Pro)	SNV	Uncertain significance	1028098		GRCh37: 3:195798994-195798994 GRCh38: 3:196072123-196072123
6	TFRC	NM_001128148.3(TFRC):c.2186C>T (p.Thr729Met)	SNV	Uncertain significance	1031313		GRCh37: 3:195778910-195778910 GRCh38: 3:196052039-196052039
7	TFRC	NM_001128148.3(TFRC):c.1136A>G (p.Asn379Ser)	SNV	Uncertain significance	1033985		GRCh37: 3:195792376-195792376 GRCh38: 3:196065505-196065505

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 46:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	TFRC	p.Tyr20His	VAR_076365	rs863225436

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Expression for Immunodeficiency 46

Search GEO for disease gene expression data for Immunodeficiency 46.

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Pathways for Immunodeficiency 46

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GO Terms for Immunodeficiency 46

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Sources for Immunodeficiency 46

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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²⁰ GARD

²¹ GeneAnalytics

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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²⁷ GEO DataSets

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³¹ HPO

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³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Immunodeficiency 46 (IMD46)

Aliases & Classifications for Immunodeficiency 46

MalaCards integrated aliases for Immunodeficiency 46:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency 46

Related Diseases for Immunodeficiency 46

Diseases related to Immunodeficiency 46 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Immunodeficiency 46

Human phenotypes related to Immunodeficiency 46:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Immunodeficiency 46

Genetic Tests for Immunodeficiency 46

Genetic tests related to Immunodeficiency 46:

Anatomical Context for Immunodeficiency 46

MalaCards organs/tissues related to Immunodeficiency 46:

Publications for Immunodeficiency 46

Articles related to Immunodeficiency 46:

Genes for Immunodeficiency 46

Genes related to Immunodeficiency 46 (1 elite genes):

Variations for Immunodeficiency 46

ClinVar genetic disease variations for Immunodeficiency 46:

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 46:

Expression for Immunodeficiency 46

Pathways for Immunodeficiency 46

GO Terms for Immunodeficiency 46

Sources for Immunodeficiency 46