Immunodeficiency 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Immunodeficiency 9

MalaCards integrated aliases for Immunodeficiency 9:

Name: Immunodeficiency 9 ⁵⁷ ⁷⁵

Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 1 ⁵⁷ ⁵³ ⁷⁵ ²⁹ ¹³ ⁶ ⁴⁰ ⁷³

Imd9 ⁵⁷ ⁷⁵

Severe Combined Immunodeficiency Due to Crac Channel Dysfunction ⁷⁵

Combined Immunodeficiency Due to Orai1 Deficiency ⁵⁹

Cid Due to Orai1 Deficiency ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

combined immunodeficiency due to orai1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in the neonatal period
early death may occur without bone marrow transplant

HPO:

³²

immunodeficiency 9:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Combined immunodeficiencies

Other combined immunodeficiencies

Orphanet: ⁵⁹

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 612782

Orphanet ⁵⁹ ORPHA317428

ICD10 via Orphanet ³⁴ D81.8

MedGen ⁴² C2748568

MeSH ⁴⁴ D007153

UMLS ⁷³ C2748568

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Summaries for Immunodeficiency 9

UniProtKB/Swiss-Prot : ⁷⁵ Immunodeficiency 9: An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed.

MalaCards based summary : Immunodeficiency 9, also known as immune dysfunction with t-cell inactivation due to calcium entry defect 1, is related to autoimmune lymphoproliferative syndrome, type iii. An important gene associated with Immunodeficiency 9 is ORAI1 (ORAI Calcium Release-Activated Calcium Modulator 1). Affiliated tissues include t cells, bone and bone marrow, and related phenotypes are muscular hypotonia and failure to thrive

OMIM : ⁵⁷ Immunodeficiency-9 is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009). (612782)

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Related Diseases for Immunodeficiency 9

Diseases related to Immunodeficiency 9 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	autoimmune lymphoproliferative syndrome, type iii	10.9

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Symptoms & Phenotypes for Immunodeficiency 9

Symptoms via clinical synopsis from OMIM:

⁵⁷

Muscle Soft Tissue:
muscular hypotonia
difficulty walking
proximal muscle weakness
gower sign
loss of ambulation
more

Respiratory:
respiratory insufficiency due to muscle weakness

Skin Nails Hair Skin:
heat intolerance
ectodermal dysplasia, anhidrotic

Metabolic Features:
intermittent fever

Growth Other:
failure to thrive

Immunology:
recurrent infections
impaired t cell activation
impaired t cell proliferative response
normal lymphocyte counts
normal serum immunoglobulin levels
more

Head And Neck Teeth:
dysplastic dental enamel
hypocalcified amelogenesis imperfecta

Head And Neck Mouth:
aphthous stomatitis

Clinical features from OMIM:

612782

Human phenotypes related to Immunodeficiency 9:

³² (show all 13)

#	Description	HPO Source Accession
1	muscular hypotonia ³²	HP:0001252
2	failure to thrive ³²	HP:0001508
3	myopathy ³²	HP:0003198
4	respiratory insufficiency due to muscle weakness ³²	HP:0002747
5	immunodeficiency ³²	HP:0002721
6	recurrent infections ³²	HP:0002719
7	difficulty walking ³²	HP:0002355
8	recurrent aphthous stomatitis ³²	HP:0011107
9	episodic fever ³²	HP:0001954
10	ectodermal dysplasia ³²	HP:0000968
11	heat intolerance ³²	HP:0002046
12	stomatitis ³²	HP:0010280
13	gowers sign ³²	HP:0003391

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Drugs & Therapeutics for Immunodeficiency 9

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 9

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Genetic Tests for Immunodeficiency 9

Genetic tests related to Immunodeficiency 9:

#	Genetic test	Affiliating Genes
1	Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 1 ²⁹	ORAI1

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Anatomical Context for Immunodeficiency 9

MalaCards organs/tissues related to Immunodeficiency 9:

⁴¹

T Cells, Bone, Bone Marrow

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Publications for Immunodeficiency 9

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Genes for Immunodeficiency 9

Genes related to Immunodeficiency 9 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ORAI1	ORAI Calcium Release-Activated Calcium Modulator 1	Protein Coding	1676.16	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	16582901 8814256 18187424 (more) 20004786 7531512 7798233

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Variations for Immunodeficiency 9

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 9:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ORAI1	p.Arg91Trp	VAR_026226	rs118203993

ClinVar genetic disease variations for Immunodeficiency 9:

⁶

(show all 34)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ORAI1	NM_032790.3(ORAI1): c.271C> T (p.Arg91Trp)	single nucleotide variant	Pathogenic	rs118203993	GRCh37	Chromosome 12, 122064924: 122064924
2	ORAI1	NM_032790.3(ORAI1): c.271C> T (p.Arg91Trp)	single nucleotide variant	Pathogenic	rs118203993	GRCh38	Chromosome 12, 121627018: 121627018
3	ORAI1	NM_032790.3(ORAI1): c.261dupA (p.Ala88Serfs)	duplication	Pathogenic	rs878853261	GRCh37	Chromosome 12, 122064914: 122064914
4	ORAI1	NM_032790.3(ORAI1): c.261dupA (p.Ala88Serfs)	duplication	Pathogenic	rs878853261	GRCh38	Chromosome 12, 121627008: 121627008
5	ORAI1	NM_032790.3(ORAI1): c.308C> A (p.Ala103Glu)	single nucleotide variant	Pathogenic	rs786205890	GRCh37	Chromosome 12, 122078951: 122078951
6	ORAI1	NM_032790.3(ORAI1): c.308C> A (p.Ala103Glu)	single nucleotide variant	Pathogenic	rs786205890	GRCh38	Chromosome 12, 121641045: 121641045
7	ORAI1	NM_032790.3(ORAI1): c.581T> C (p.Leu194Pro)	single nucleotide variant	Pathogenic	rs782753385	GRCh37	Chromosome 12, 122079224: 122079224
8	ORAI1	NM_032790.3(ORAI1): c.581T> C (p.Leu194Pro)	single nucleotide variant	Pathogenic	rs782753385	GRCh38	Chromosome 12, 121641318: 121641318
9	ORAI1	NC_000012.12: g.121626879_121626884delACCGCC	deletion	Conflicting interpretations of pathogenicity	rs531278468	GRCh37	Chromosome 12, 122064785: 122064790
10	ORAI1	NC_000012.12: g.121626879_121626884delACCGCC	deletion	Conflicting interpretations of pathogenicity	rs531278468	GRCh38	Chromosome 12, 121626879: 121626884
11	ORAI1	NM_032790.3(ORAI1): c.786T> C (p.Val262=)	single nucleotide variant	Benign	rs3825174	GRCh37	Chromosome 12, 122079429: 122079429
12	ORAI1	NM_032790.3(ORAI1): c.786T> C (p.Val262=)	single nucleotide variant	Benign	rs3825174	GRCh38	Chromosome 12, 121641523: 121641523
13	ORAI1	NM_032790.3(ORAI1): c.652A> G (p.Ser218Gly)	single nucleotide variant	Benign	rs3741596	GRCh37	Chromosome 12, 122079295: 122079295
14	ORAI1	NM_032790.3(ORAI1): c.652A> G (p.Ser218Gly)	single nucleotide variant	Benign	rs3741596	GRCh38	Chromosome 12, 121641389: 121641389
15	ORAI1	NM_032790.3(ORAI1): c.705T> C (p.Ala235=)	single nucleotide variant	Benign	rs3741597	GRCh37	Chromosome 12, 122079348: 122079348
16	ORAI1	NM_032790.3(ORAI1): c.705T> C (p.Ala235=)	single nucleotide variant	Benign	rs3741597	GRCh38	Chromosome 12, 121641442: 121641442
17	ORAI1	NM_032790.3(ORAI1): c.132_137dup (p.Pro47_Ser48insProPro)	duplication	Likely benign		GRCh38	Chromosome 12, 121626879: 121626884
18	ORAI1	NM_032790.3(ORAI1): c.132_137dup (p.Pro47_Ser48insProPro)	duplication	Likely benign		GRCh37	Chromosome 12, 122064785: 122064790
19	ORAI1	NM_032790.3(ORAI1): c.144_150dup (p.Thr51Argfs)	duplication	Uncertain significance		GRCh37	Chromosome 12, 122064797: 122064803
20	ORAI1	NM_032790.3(ORAI1): c.144_150dup (p.Thr51Argfs)	duplication	Uncertain significance		GRCh38	Chromosome 12, 121626891: 121626897
21	ORAI1	NM_032790.3(ORAI1)	insertion	Pathogenic		GRCh37	Chromosome 12, 122064794: 122064795
22	ORAI1	NM_032790.3(ORAI1)	insertion	Pathogenic		GRCh38	Chromosome 12, 121626888: 121626889
23	ORAI1	NM_032790.3(ORAI1): c.49C> T (p.Pro17Ser)	single nucleotide variant	Likely benign	rs568054544	GRCh38	Chromosome 12, 121626791: 121626791
24	ORAI1	NM_032790.3(ORAI1): c.49C> T (p.Pro17Ser)	single nucleotide variant	Likely benign	rs568054544	GRCh37	Chromosome 12, 122064696: 122064696
25	ORAI1	NM_032790.3(ORAI1): c.100A> C (p.Ser34Arg)	single nucleotide variant	Uncertain significance	rs781829024	GRCh38	Chromosome 12, 121626842: 121626842
26	ORAI1	NM_032790.3(ORAI1): c.100A> C (p.Ser34Arg)	single nucleotide variant	Uncertain significance	rs781829024	GRCh37	Chromosome 12, 122064747: 122064747
27	ORAI1	NM_032790.3(ORAI1): c.668A> G (p.Asn223Ser)	single nucleotide variant	Likely benign	rs75603737	GRCh37	Chromosome 12, 122079311: 122079311
28	ORAI1	NM_032790.3(ORAI1): c.668A> G (p.Asn223Ser)	single nucleotide variant	Likely benign	rs75603737	GRCh38	Chromosome 12, 121641405: 121641405
29	ORAI1	NM_032790.3(ORAI1): c.115C> G (p.Pro39Ala)	single nucleotide variant	Uncertain significance	rs782531427	GRCh38	Chromosome 12, 121626857: 121626857
30	ORAI1	NM_032790.3(ORAI1): c.115C> G (p.Pro39Ala)	single nucleotide variant	Uncertain significance	rs782531427	GRCh37	Chromosome 12, 122064762: 122064762
31	ORAI1	NM_032790.3(ORAI1): c.212T> G (p.Met71Arg)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 12, 121626959: 121626959
32	ORAI1	NM_032790.3(ORAI1): c.212T> G (p.Met71Arg)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 12, 122064865: 122064865
33	ORAI1	NM_032790.3(ORAI1): c.85_99dup (p.Arg33_Ser34insArgSerArgArgArg)	duplication	Uncertain significance		GRCh37	Chromosome 12, 122064732: 122064746
34	ORAI1	NM_032790.3(ORAI1): c.85_99dup (p.Arg33_Ser34insArgSerArgArgArg)	duplication	Uncertain significance		GRCh38	Chromosome 12, 121626827: 121626841

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Expression for Immunodeficiency 9

Search GEO for disease gene expression data for Immunodeficiency 9.

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Pathways for Immunodeficiency 9

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GO Terms for Immunodeficiency 9

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Sources for Immunodeficiency 9

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