MCID: ATM083
MIFTS: 29

Autoimmune Lymphoproliferative Syndrome, Type Iii malady

Categories: Genetic diseases, Immune diseases, Blood diseases, Rare diseases, Infectious 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 51 69 67
Autoimmune Lymphoproliferative Syndrome 3 69 26
Alps3 11 69
Cvid9 11 69
 
Autoimmune Lymphoproliferative Syndrome Type Iii 11
Autoimmune Lymphoproliferative Syndrome Type 3 11
Immunodeficiency, Common Variable, 9 69
Common Variable Immunodeficiency 9 11

Characteristics:

HPO:

63
autoimmune lymphoproliferative syndrome, type iii:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 615559
Disease Ontology11 DOID:0110119
ICD1029 D47.9
MedGen36 CN182401
MeSH38 D017074

Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iii

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OMIM:51 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 autoimmune lymphoproliferative syndrome 3, is related to prkcd-related autoimmune lymphoproliferative syndrome and immunodeficiency, common variable, 1, 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.

Disease Ontology:11 An autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the PRKCD gene on chromosome 3p21.

UniProtKB/Swiss-Prot:69 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

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Iii:

 63 (show all 8)
id Description HPO Frequency HPO Source Accession
1 nephrotic syndrome63 HP:0000100
2 splenomegaly63 HP:0001744
3 autoimmune thrombocytopenia63 HP:0001973
4 hepatomegaly63 HP:0002240
5 lymphadenopathy63 HP:0002716
6 recurrent infections63 HP:0002719
7 arthralgia63 HP:0002829
8 membranous nephropathy63 HP:0012578

UMLS symptoms related to Autoimmune Lymphoproliferative Syndrome, Type Iii:


arthralgia, hepatomegaly

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, investigational, vet_approvedPhase 3208450-02-25743
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
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 alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
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
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
Prednisoneapproved, vet_approvedPhase 3135953-03-25865
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
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
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
3HormonesPhase 313979
4Hormone AntagonistsPhase 312778
5HIV Protease InhibitorsPhase 35319
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 312767
7
protease inhibitorsPhase 35320
Synonyms:
 
protease inhibitors
8Peripheral Nervous System AgentsPhase 322776
9AntiemeticsPhase 33888
10glucocorticoidsPhase 34920
11Antineoplastic Agents, HormonalPhase 35407
12Anti-Inflammatory AgentsPhase 310355
13Gastrointestinal AgentsPhase 38109
14Autonomic AgentsPhase 39774
15BB 1101Phase 32084
16Dexamethasone acetatePhase 320841177-87-3
17Dexamethasone 21-phosphatePhase 32084
18ImmunoglobulinsPhase 16045
19AntibodiesPhase 16045
20Antibodies, MonoclonalPhase 13795

Interventional clinical trials:

idNameStatusNCT IDPhase
1Prednisone or Dexamethasone in Newly Diagnosed, Previously Untreated Primary Immune Thrombocytopenic PurpuraActive, not recruitingNCT00657410Phase 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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Genetic tests related to Autoimmune Lymphoproliferative Syndrome, Type Iii:

id Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome, Type Iii26

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Iii

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

35
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
Autoimmune lymphoproliferative syndrome type III: an indefinite disorder. (11342357)
2001
2
Autoimmune lymphoproliferative syndrome type III, an indefinite disorder. (11378568)
2001

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)SNVPathogenicrs606231296GRCh38Chr 3, 53188832: 53188832
2PRKCDNM_006254.3(PRKCD): c.1840C> T (p.Arg614Trp)SNVPathogenicrs606231297GRCh38Chr 3, 53189969: 53189969
3PRKCDNM_006254.3(PRKCD): c.1352+1G> ASNVPathogenicrs398122958GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet