Immunodeficiency 50 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Immunodeficiency 50

MalaCards integrated aliases for Immunodeficiency 50:

Name: Immunodeficiency 50 ⁵⁷ ⁷⁵ ⁶

Immunodeficiency 50, X-Linked Recessive ⁵⁷ ⁷⁵

Imd50 ⁵⁷ ⁷⁵

Combined Immunodeficiency Due to Moesin Deficiency ⁵⁹

X-Linked Moesin-Associated Immunodeficiency ⁵⁹

Msn-Related Combined Immunodeficiency ⁵⁹

Cid Due to Moesin Deficiency ⁵⁹

Characteristics:

OMIM:

⁵⁷

Miscellaneous:
onset in early childhood
female carriers are unaffected

Inheritance:
x-linked recessive

HPO:

³²

immunodeficiency 50:
Inheritance x-linked recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 300988

Orphanet ⁵⁹ ORPHA504530

MedGen ⁴² C4310812 CN239572

MeSH ⁴⁴ D007153

SNOMED-CT via HPO ⁶⁹ 197927001 281104002 43116000 more

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Summaries for Immunodeficiency 50

OMIM : ⁵⁷ IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016). (300988)

MalaCards based summary : Immunodeficiency 50, also known as immunodeficiency 50, x-linked recessive, is related to immunodysregulation, polyendocrinopathy, and enteropathy, x-linked. An important gene associated with Immunodeficiency 50 is MSN (Moesin). Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are recurrent respiratory infections and decreased antibody level in blood

UniProtKB/Swiss-Prot : ⁷⁵ Immunodeficiency 50: A primary immunodeficiency disorder characterized by onset of recurrent bacterial or varicella zoster virus infections in early childhood, profound lymphopenia, hypogammaglobulinemia, fluctuating monocytopenia and neutropenia, and a poor immune response to vaccine antigens.

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Related Diseases for Immunodeficiency 50

Diseases related to Immunodeficiency 50 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	immunodysregulation, polyendocrinopathy, and enteropathy, x-linked	10.2

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Symptoms & Phenotypes for Immunodeficiency 50

Symptoms via clinical synopsis from OMIM:

⁵⁷

Immunology:
lymphopenia
hypogammaglobulinemia
decreased numbers of b cells
decreased numbers of t cells
recurrent infections, bacterial
more

Respiratory:
respiratory infections, recurrent

Genitourinary:
urinary tract infections, recurrent

Skin Nails Hair Skin:
eczema

Abdomen Gastrointestinal:
gastrointestinal tract infections, recurrent

Clinical features from OMIM:

300988

Human phenotypes related to Immunodeficiency 50:

³² (show all 6)

#	Description	HPO Source Accession
1	recurrent respiratory infections ³²	HP:0002205
2	decreased antibody level in blood ³²	HP:0004313
3	lymphopenia ³²	HP:0001888
4	neutropenia ³²	HP:0001875
5	eczema ³²	HP:0000964
6	recurrent urinary tract infections ³²	HP:0000010

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Drugs & Therapeutics for Immunodeficiency 50

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 50

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Genetic Tests for Immunodeficiency 50

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Anatomical Context for Immunodeficiency 50

MalaCards organs/tissues related to Immunodeficiency 50:

⁴¹

T Cells, B Cells, Nk Cells

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Publications for Immunodeficiency 50

Articles related to Immunodeficiency 50:

#	Title	Authors	Year
1	Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case. ( 29556235 )	Bradshaw G...Griffiths LR	2018

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Genes for Immunodeficiency 50

Genes related to Immunodeficiency 50 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MSN	Moesin	Protein Coding	1576.69	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)	27405666
2	STIM1	Stromal Interaction Molecule 1	Protein Coding	16.5	GeneCards inferred via : Publications (show sections)

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Variations for Immunodeficiency 50

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 50:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	MSN	p.Arg171Trp	VAR_078026	rs105751907

ClinVar genetic disease variations for Immunodeficiency 50:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MSN	NM_002444.2(MSN): c.511C> T (p.Arg171Trp)	single nucleotide variant	Pathogenic	rs1057519074	GRCh37	Chromosome X, 64951012: 64951012
2	MSN	NM_002444.2(MSN): c.511C> T (p.Arg171Trp)	single nucleotide variant	Pathogenic	rs1057519074	GRCh38	Chromosome X, 65731150: 65731150
3	MSN	NM_002444.2(MSN): c.1657C> T (p.Arg553Ter)	single nucleotide variant	Pathogenic	rs1057519075	GRCh38	Chromosome X, 65739816: 65739816
4	MSN	NM_002444.2(MSN): c.1657C> T (p.Arg553Ter)	single nucleotide variant	Pathogenic	rs1057519075	GRCh37	Chromosome X, 64959678: 64959678

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Expression for Immunodeficiency 50

Search GEO for disease gene expression data for Immunodeficiency 50.

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Pathways for Immunodeficiency 50

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GO Terms for Immunodeficiency 50

Cellular components related to Immunodeficiency 50 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	8.62	MSN STIM1

Sources

Sources for Immunodeficiency 50

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Immunodeficiency 50 (IMD50)

Aliases & Classifications for Immunodeficiency 50

MalaCards integrated aliases for Immunodeficiency 50:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency 50

Related Diseases for Immunodeficiency 50

Diseases related to Immunodeficiency 50 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Immunodeficiency 50

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Immunodeficiency 50:

Drugs & Therapeutics for Immunodeficiency 50

Genetic Tests for Immunodeficiency 50

Anatomical Context for Immunodeficiency 50

MalaCards organs/tissues related to Immunodeficiency 50:

Publications for Immunodeficiency 50

Articles related to Immunodeficiency 50:

Genes for Immunodeficiency 50

Genes related to Immunodeficiency 50 (1 elite genes):

Variations for Immunodeficiency 50

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 50:

ClinVar genetic disease variations for Immunodeficiency 50:

Expression for Immunodeficiency 50

Pathways for Immunodeficiency 50

GO Terms for Immunodeficiency 50

Cellular components related to Immunodeficiency 50 according to GeneCards Suite gene sharing:

Sources for Immunodeficiency 50