MCID: ATM083
MIFTS: 24

Autoimmune Lymphoproliferative Syndrome, Type Iii malady

Categories: Genetic diseases, Immune diseases, Rare diseases, Blood diseases, Cancer diseases

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type Iii

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Aliases & Descriptions for Autoimmune Lymphoproliferative Syndrome, Type Iii:

Name: Autoimmune Lymphoproliferative Syndrome, Type Iii 49 67 65
Immunodeficiency, Common Variable, 9 67 24
Autoimmune Lymphoproliferative Syndrome 3 67
 
Cvid9 67
Alps3 67

Characteristics:

HPO:

61
autoimmune lymphoproliferative syndrome, type iii:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM49 615559
MedGen34 CN182401
MeSH36 D017074
UMLS65 C3809928

Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iii

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OMIM:49 Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The... (615559) more...

MalaCards based summary: Autoimmune Lymphoproliferative Syndrome, Type Iii, also known as immunodeficiency, common variable, 9, is related to immunodeficiency, common variable, 1 and autoimmune lymphoproliferative syndrome, and has symptoms including nephrotic syndrome, splenomegaly and autoimmune thrombocytopenia. An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type Iii is PRKCD (Protein Kinase C Delta). Affiliated tissues include b cells.

UniProtKB/Swiss-Prot:67 Autoimmune lymphoproliferative syndrome 3: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. CVID9 patients have B-cell deficiency and severe autoimmunity.

Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type Iii

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Symptoms for Autoimmune Lymphoproliferative Syndrome, Type Iii

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Symptoms by clinical synopsis from OMIM:

615559

Clinical features from OMIM:

615559

HPO human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Iii:

(show all 8)
id Description Frequency HPO Source Accession
1 nephrotic syndrome HP:0000100
2 splenomegaly HP:0001744
3 autoimmune thrombocytopenia HP:0001973
4 hepatomegaly HP:0002240
5 lymphadenopathy HP:0002716
6 recurrent infections HP:0002719
7 arthralgia HP:0002829
8 membranous nephropathy HP:0012578

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type Iii

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Drugs for Autoimmune Lymphoproliferative Syndrome, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Dexamethasoneapproved, investigationalPhase 3190950-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Baycadron
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
Dexameth
Dexamethansone
 
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone acetate
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone sodium phosphate
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamethsone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
Ozurdex
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038
2
PrednisoneapprovedPhase 3126753-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
Juvason
 
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Perrigo Prednisone
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rayos
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
3Hormone AntagonistsPhase 310002
4HormonesPhase 311748
5Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 39988
6Peripheral Nervous System AgentsPhase 318510
7Protease InhibitorsPhase 34558
8AntiemeticsPhase 33213
9HIV Protease InhibitorsPhase 34558
10glucocorticoidsPhase 33896
11Anti-Inflammatory AgentsPhase 38478
12BB 1101Phase 31909
13Antineoplastic Agents, HormonalPhase 34256
14Dexamethasone 21-phosphatePhase 31909
15Gastrointestinal AgentsPhase 36401
16Dexamethasone acetatePhase 319091177-87-3
17Immunologic FactorsPhase 118483
18ImmunoglobulinsPhase 14477
19AntibodiesPhase 14477
20Antibodies, MonoclonalPhase 12413

Interventional clinical trials:

idNameStatusNCT IDPhase
1Prednisone or Dexamethasone in Newly Diagnosed, Previously Untreated Primary Immune Thrombocytopenic PurpuraRecruitingNCT00657410Phase 3
2Ipilimumab After Allogeneic Stem Cell Transplant in Treating Patients With Persistent or Progressive CancerCompletedNCT00060372Phase 1

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome, Type Iii

Genetic Tests for Autoimmune Lymphoproliferative Syndrome, Type Iii

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Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Iii

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MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome, Type Iii:

33
B cells

Animal Models for Autoimmune Lymphoproliferative Syndrome, Type Iii or affiliated genes

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Publications for Autoimmune Lymphoproliferative Syndrome, Type Iii

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Articles related to Autoimmune Lymphoproliferative Syndrome, Type Iii:

idTitleAuthorsYear
1
Use of a soft tissue expander before surgical treatment of clubfoot in children and adolescents. (15832154)
2005
2
PYELITIS OF PREGNANCY TREATED WITH COLI VACCINE. (20764261)
1909

Variations for Autoimmune Lymphoproliferative Syndrome, Type Iii

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Clinvar genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type Iii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PRKCDNM_006254.3(PRKCD): c.1528G> A (p.Gly510Ser)single nucleotide variantPathogenicrs606231296GRCh38Chr 3, 53188832: 53188832
2PRKCDNM_006254.3(PRKCD): c.1840C> T (p.Arg614Trp)single nucleotide variantPathogenicrs606231297GRCh38Chr 3, 53189969: 53189969
3PRKCDNM_006254.3(PRKCD): c.1352+1G> Asingle nucleotide variantPathogenicrs398122958GRCh37Chr 3, 53220712: 53220712

Expression for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Iii

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Search GEO for disease gene expression data for Autoimmune Lymphoproliferative Syndrome, Type Iii.

Pathways for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Iii

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GO Terms for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Iii

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Sources for Autoimmune Lymphoproliferative Syndrome, Type Iii

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet