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IMD9
MCID: IMM066
MIFTS: 23

Immunodeficiency 9 (IMD9)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes
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Aliases & Classifications for Immunodeficiency 9

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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
Orphanet: 59  
Rare immunological diseases


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Summaries for Immunodeficiency 9

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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

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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 11.1

Sources

Symptoms & Phenotypes for Immunodeficiency 9

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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 14)
# Description HPO Frequency 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 amelogenesis imperfecta 32 HP:0000705
9 gowers sign 32 HP:0003391
10 recurrent aphthous stomatitis 32 HP:0011107
11 episodic fever 32 HP:0001954
12 ectodermal dysplasia 32 HP:0000968
13 heat intolerance 32 HP:0002046
14 stomatitis 32 HP:0010280
Sources

Drugs & Therapeutics for Immunodeficiency 9

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Search Clinical Trials , NIH Clinical Center for Immunodeficiency 9

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Genetic Tests for Immunodeficiency 9

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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

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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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Variations for Immunodeficiency 9

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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 38)
# 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 GRCh38 Chromosome 12, 121626888: 121626889
22 ORAI1 NM_032790.3(ORAI1) insertion Pathogenic GRCh37 Chromosome 12, 122064794: 122064795
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 GRCh37 Chromosome 12, 122064762: 122064762
30 ORAI1 NM_032790.3(ORAI1): c.115C> G (p.Pro39Ala) single nucleotide variant Uncertain significance rs782531427 GRCh38 Chromosome 12, 121626857: 121626857
31 ORAI1 NM_032790.3(ORAI1): c.212T> G (p.Met71Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 122064865: 122064865
32 ORAI1 NM_032790.3(ORAI1): c.212T> G (p.Met71Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 121626959: 121626959
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
35 ORAI1 NM_032790.3(ORAI1): c.783G> A (p.Leu261=) single nucleotide variant Uncertain significance rs781878981 GRCh37 Chromosome 12, 122079426: 122079426
36 ORAI1 NM_032790.3(ORAI1): c.783G> A (p.Leu261=) single nucleotide variant Uncertain significance rs781878981 GRCh38 Chromosome 12, 121641520: 121641520
37 ORAI1 NM_032790.3(ORAI1): c.845T> A (p.Leu282Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 122079488: 122079488
38 ORAI1 NM_032790.3(ORAI1): c.845T> A (p.Leu282Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 121641582: 121641582
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Expression for Immunodeficiency 9

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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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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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