MCID: GRS014
MIFTS: 50

Griscelli Syndrome, Type 2 malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Blood diseases, Neuronal diseases, Immune diseases

Aliases & Classifications for Griscelli Syndrome, Type 2

About this section
Sources:
50OMIM, 23GeneTests, 12diseasecard, 48Novoseek, 66UMLS, 46NIH Rare Diseases, 68UniProtKB/Swiss-Prot, 52Orphanet, 25GTR, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Griscelli Syndrome, Type 2:

Name: Griscelli Syndrome, Type 2 50 23 12 48 66
Griscelli Syndrome 2 68 25
Gs2 46 68
Hypopigmentation-Immunodeficiency with or Without Neurologic Impairment Syndrome 52
Griscelli Syndrome with Hemophagocytic Syndrome 46
Partial Albinism and Immunodeficiency Syndrome 46
 
Griscelli-Pruniéras Syndrome Type 2 52
Griscelli Syndrome Type 2 46
Griscelli Disease Type 2 52
Paid Syndrome 46
Paid Sndrome 23

Characteristics:

Orphanet epidemiological data:

52
hypopigmentation-immunodeficiency with or without neurologic impairment syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: late childhood

HPO:

62
griscelli syndrome, type 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset
Mortality/Aging: death in childhood


Classifications:



External Ids:

OMIM50 607624
Orphanet52 ORPHA79477
UMLS via Orphanet67 C1868679
ICD10 via Orphanet29 E70.3
MESH via Orphanet38 C537302
MedGen35 C1868679

Summaries for Griscelli Syndrome, Type 2

About this section
NIH Rare Diseases:46 Griscelli syndrome type 2 is a rare, inherited condition that primarily affects the skin and hair. signs and symptoms generally develop during infancy and may include hypopigmented (unusually light) skin and light, silver-colored hair. affected people may also have abnormalities of the immune system which puts them at risk for frequent infections and hemophagocytic lymphohistiocytosis. griscelli syndrome type 2 is caused by changes (mutations) in the rab27a gene and is inherited in an autosomal dominant manner. in some cases, griscelli syndrome type 2 has been treated successfully with stem cell transplantation. last updated: 12/21/2015

MalaCards based summary: Griscelli Syndrome, Type 2, also known as griscelli syndrome 2, is related to griscelli syndrome and griscelli syndrome, type 3, and has symptoms including hypopigmented skin patches, premature graying of hair and hypopigmentation of hair. An important gene associated with Griscelli Syndrome, Type 2 is RAB27A (RAB27A, Member RAS Oncogene Family), and among its related pathways are wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) and Deregulation of Rab and Rab Effector Genes in Bladder Cancer. Affiliated tissues include skin, bone marrow and bone, and related mouse phenotype immune system.

UniProtKB/Swiss-Prot:68 Griscelli syndrome 2: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome.

Wikipedia:69 Griscelli syndrome type 2 (also known as \"Partial albinism with immunodeficiency\") is a rare autosomal... more...

Description from OMIM:50 607624

Related Diseases for Griscelli Syndrome, Type 2

About this section

Diseases in the Griscelli Syndrome family:

Griscelli Syndrome, Type 3 Griscelli Syndrome, Type 1
griscelli syndrome, type 2

Diseases related to Griscelli Syndrome, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1griscelli syndrome10.6
2griscelli syndrome, type 310.5MLPH, MYO5A
3gonadal disease10.3CCL5, IL10
4primary orthostatic tremor10.3CCL5, IL10
5orbital lymphangioma10.3CCL5, IL10
6decubitus ulcer10.3CCL5, IL10
7agammaglobulinemia, x-linked 110.3AGFG1, RAB27A
8psychologic dyspareunia10.3CCL5, IL10
9malakoplakia10.3CCL5, IL10
10retroperitoneal fibrosis10.2CCL5, IL10
11gastric ulcer10.2CCL5, IL10
12blind hypotensive eye10.2CCL5, IL10
13dentinogenesis imperfecta, shields type ii10.2MLPH, MYO5A, RAB27A
14geniculate herpes zoster10.2CCL5, IL10
15taylor's syndrome10.1CCL5, IL10
16motion sickness10.1CCL5, IL10
17griscelli syndrome, type 110.1
18hematopoietic stem cell transplantation10.1
19hemophagocytic lymphohistiocytosis10.1
20phosphoserine aminotransferase deficiency10.1RAB27A, UNC13D
21benign renovascular hypertension10.0CCL5, IL10
22macular dystrophy, atypical vitelliform10.0RAB27A, UNC13D
23hypertensive encephalopathy10.0CCL5, IL10
24gingivitis10.0CCL5, IL10
25pediatric infratentorial ependymoma10.0RAB27A, UNC13D
26chediak-higashi syndrome9.9RAB27A, UNC13D
27lymphomatoid granulomatosis9.9
28myositis9.9
29laryngeal tuberculosis9.9CCL5, IL10
30hyperpigmentation of eyelid9.7CCL5, IL10
31hepatitis b9.7IL10, RAB27A, UNC13D
32grover's disease8.0AGFG1, CCL5, IL10, MLPH, MYO5A, RAB27A
33craniosynostosis 36.9AGFG1, CCL5, FAM103A1, IL10, MLPH, MYO5A

Graphical network of the top 20 diseases related to Griscelli Syndrome, Type 2:



Diseases related to griscelli syndrome, type 2

Symptoms for Griscelli Syndrome, Type 2

About this section

Symptoms by clinical synopsis from OMIM:

607624

Clinical features from OMIM:

607624

Symptoms:

 52 (show all 19)
  • jaundice
  • petechiae
  • seizures
  • hypertonia
  • splenomegaly
  • neutropenia
  • pancytopenia
  • fever
  • nausea and vomiting
  • pulmonary infiltrates
  • premature graying of hair
  • hepatomegaly
  • lymphadenopathy
  • immunodeficiency
  • hyperlipidemia
  • hypopigmentation of hair
  • partial albinism
  • iris hypopigmentation
  • hemophagocytosis

HPO human phenotypes related to Griscelli Syndrome, Type 2:

(show all 27)
id Description Frequency HPO Source Accession
1 hypopigmented skin patches hallmark (90%) HP:0001053
2 premature graying of hair hallmark (90%) HP:0002216
3 hypopigmentation of hair hallmark (90%) HP:0005599
4 abnormality of neutrophils typical (50%) HP:0001874
5 hepatomegaly typical (50%) HP:0002240
6 lymphadenopathy typical (50%) HP:0002716
7 abnormality of lipid metabolism typical (50%) HP:0003119
8 ocular albinism occasional (7.5%) HP:0001107
9 seizures occasional (7.5%) HP:0001250
10 hypertonia occasional (7.5%) HP:0001276
11 meningitis occasional (7.5%) HP:0001287
12 splenomegaly occasional (7.5%) HP:0001744
13 subcutaneous hemorrhage occasional (7.5%) HP:0001933
14 nausea and vomiting occasional (7.5%) HP:0002017
15 pulmonary infiltrates occasional (7.5%) HP:0002113
16 abnormality of temperature regulation occasional (7.5%) HP:0004370
17 bone marrow hypocellularity occasional (7.5%) HP:0005528
18 accumulation of melanosomes in melanocytes HP:0001008
19 hypopigmentation of the skin HP:0001010
20 seizures HP:0001250
21 spasticity HP:0001257
22 abnormality of the cerebellum HP:0001317
23 silver-gray hair HP:0002218
24 melanin pigment aggregation in hair shafts HP:0002220
25 progressive neurologic deterioration HP:0002344
26 recurrent bacterial infections HP:0002718
27 reduced delayed hypersensitivity HP:0002972

UMLS symptoms related to Griscelli Syndrome, Type 2:


muscle spasticity, seizures

Drugs & Therapeutics for Griscelli Syndrome, Type 2

About this section

Drugs for Griscelli Syndrome, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Melphalan697148-82-34053, 460612
Synonyms:
(2S)-2-amino-3-[4-[bis(2-chloroethyl)amino]phenyl]propanoic acid
(2s)-2-amino-3-(4-[bis(2-chloroethyl)amino]phenyl)propanoic acid
148-82-3
3-(P-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
3-P-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3-p-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3025 C.B.
3025 c.b
3223-07-2
4-(Bis(2-chloroethyl)amino)-L-phenylalanine
4-14-00-01689 (Beilstein Handbook Reference)
4-[Bis(2-chloroethyl)amino]-L-phenylalanine
4-[Bis-(2-chloroethyl)amino]-L-phenylalanine
AC1LA2OE
ALKERAN (TN)
AY3360000
Alanine Nitrogen Mustard
Alkeran
AmbotzHAA1563
At-290
BIDD:GT0044
BRD-K87827419-001-02-8
BRN 2816456
BSPBio_002407
C13H18Cl2N2O2
CB 3025
CB-3025
CCRIS 374
CHEBI:165415
CHEBI:28876
CHEMBL852
CID460612
D00369
DivK1c_000653
EINECS 205-726-3
HMS2090B09
HMS2091B16
HMS502A15
HSDB 3234
IDI1_000653
KBio1_000653
KBio2_000877
KBio2_003445
KBio2_006013
KBio3_001627
KBioGR_001284
KBioSS_000877
L-3-(P-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(para-(Bis(2-chloroethyl)amino)phenyl)alanine
L-PAM
L-Phenylalanine mustard
L-Sarcolysin
L-Sarcolysine
L-Sarkolysin
LS-15868
LS-865
 
Levofalan
Levofolan
Levopholan
M2011_SIGMA
MELPHALAN (SEE ALSO TRANSGENIC MODEL EVALUATION (MELPHALAN))
MLS001333666
MLS002153368
Melfalan
Melfalano
Melfalano [INN-Spanish]
Melphalan (JP15/USP/INN)
Melphalan [USAN:INN:BAN:JAN]
Melphalanum
Melphalanum [INN-Latin]
Mephalan
MolPort-003-665-535
NCGC00090757-01
NCGC00090757-02
NCGC00090757-03
NCI-C04853
NINDS_000653
NIOSH/AY3360000
NSC 241286
NSC 8806
NSC-8806
NSC241286
NSC8806
P-Di-(2-chloroethyl)amino-L-phenylalanine
P-L-Sarcolysin
P-N-Bis(2-chloroethyl)amino-L-phenylalanine
Phenylalanine mustard
Phenylalanine nitrogen mustard
Prestwick_1006
RCRA waste no. U150
Rcra waste number U150
SK-15673
SMP2_000174
SMR000058720
SPBio_000287
SPECTRUM1500382
Sarcolysine
Sarkolysin
Spectrum2_000074
Spectrum3_000684
Spectrum4_000882
Spectrum5_001601
Spectrum_000397
TL8001065
TRANSGENIC LEP (MELPHALAN) (SEE ALSO MELPHALAN)
TRANSGENIC MODEL EVALUATION (MELPHALAN)
UNII-Q41OR9510P
melphalan
p-Bis(beta-chloroethyl)aminophenylalanine
p-Di-(2-chloroethyl)amino-L-phenylalanine
p-L-Sarcolysin
p-L-sarcolysine
p-N,N-bis(2-chloroethyl)amino-L-phenylalanine
p-N-Bis(2-chloroethyl)amino-L-phenylalanine
p-N-Di(chloroethyl)aminophenylalanine
p-N-di(chloroethyl)aminophenylala nine
phenylalanine nitrogen mu stard
2
Mesna25519767-45-4, 3375-50-6598
Synonyms:
2-Mercaptoethanesulfonate
2-Mercaptoethanesulfonic acid
 
2-mercaptoethane sulfonate Na
CoM
Coenzyme M
HS-CoM
3
Vidarabine47524356-66-932326, 21704
Synonyms:
(+)-Cyclaradine
.beta.-Adenosine
.beta.-D-Adenosine
1odi
2-(6-AMINO-purin-9-yl)-5-hydroxymethyl-tetrahydro-furan-3,4-diol
2946-52-3
2fqy
2gl0
30143-02-3
3080-29-3
3228-71-5
4005-33-8
46946-45-6
46969-16-8
524-69-6
5536-17-4
58-61-7
9-Arabinosyladenine
9-beta-D-Arabinofuranosyl-9H-purin-6-amine
9-beta-D-Arabinofuranosyl-adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-arabinofuranosyl-adenine
9-β-D-arabinofuranosyl-9H-purin-6-amine
9-β-D-arabinofuranosyladenine
A 9251
A0152
A4036_SIGMA
A4676_SIGMA
A5762_SIGMA
A9251_SIGMA
AC1L18OL
AC1L1U8O
AC1L2IWM
AC1L2SCM
AC1O4WIN
AC1O8PY7
AC1Q1ID3
AC1Q4Y1Z
AC1Q52XU
ADENOSINE, U.S.P.
ADN
AI3-52413
AI3-52821
AR-1H6029
ARA-A NSC 247519
Ade-Rib
Adenine Arabinoside
Adenine arabinoside
Adenine nucleoside
Adenine riboside
Adenine xyloside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine arabinose
Adenosine-8-14C
Adensoine
Ambap5536-17-4
Ara A
Ara-A
Ara-ATP
Araadenosine
Arabinoside Adenine
Arabinoside adenine
Arabinosyl Adenine
Arabinosyl adenine
Arabinosyl-adenine
Arabinosyladenine
Arasena-A
Armes
Armes (TN)
BB_NC-0565
BPBio1_000898
BRN 0624881
BSPBio_000816
BSPBio_001796
BSPBio_002000
Bio1_000437
Bio1_000926
Bio1_001415
Boniton
C00212
CAS-5536-17-4
CCRIS 2557
CCRIS 3383
CHEBI:136932
CHEBI:16335
CHEBI:45327
CHEMBL1090
CHEMBL20247
CHEMBL477
CI 673
CI-673
CID102198
CID191
CID21704
CID60961
CID6420052
CID6713976
CPD000471872
Caswell No. 010B
D000241
D00045
D06298
DB00640
DivK1c_000191
EINECS 200-389-9
EINECS 217-911-6
EINECS 226-893-9
EU-0100123
FT-0082881
HMS1570I18
HMS1920A13
HMS1921K05
HMS2090F06
HMS2091G13
HMS2092C16
HMS500J13
HSDB 6514
 
I01-1121
IDI1_000191
KBio1_000191
KBio2_002418
KBio2_004986
KBio2_007554
KBio3_001296
KBio3_001500
KBioGR_001224
KBioSS_002424
L000094
LS-15059
LS-15085
Lopac0_000123
MEDR-640
MLS000069638
MLS000699527
MLS001066352
MLS001333133
MLS001333134
MLS002153227
MLS002153992
MolPort-001-785-903
MolPort-001-838-229
MolPort-003-666-308
Myocol
NCGC00016656-01
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NCGC00094579-01
NCGC00094579-02
NCGC00094579-03
NCGC00094579-04
NCGC00178869-01
NCGC00179417-01
NCI60_003823
NCI60_037192
NCIOpen2_003303
NCIOpen2_005376
NINDS_000191
NSC 247519
NSC 404241
NSC 627048
NSC 7359
NSC 7652
NSC-404241
NSC247519
NSC404241
NSC627048
NSC70422
NSC7359
NSC7652
NSC80832
NSC87676
NSC91041
Nucleocardyl
PDSP1_001036
PDSP2_001020
Pallacor
Polyadenosine
Polyriboadenosine
Prestwick0_000768
Prestwick1_000768
Prestwick2_000768
Prestwick3_000768
Prestwick_983
RAB
S1647_Selleck
S1784_Selleck
SAM002564191
SMP1_000312
SMR000058216
SMR000225041
SMR000471872
SMR001233326
SPBio_001194
SPBio_001491
SPBio_002755
SPECTRUM1500107
SPECTRUM1500609
SR 96225
SR-96225
STK361815
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum2_001336
Spectrum3_000288
Spectrum3_000580
Spectrum4_000782
Spectrum5_001429
Spectrum_001894
Spongoadenosine
TL8003749
UNII-3XQD2MEW34
UNII-K72T3FS567
USAF CB-10
V0098
VIRDARABINE
Vidarabin
Vidarabina
Vidarabina [DCIT]
Vidarabine
Vidarabine (JAN)
Vidarabine anhydrous
Vidarabinum
Vira ATM
Vira-A
Vira-A, Vidarabine
XA
Xylosyl A
Xylosyladenine
ZINC00970363
ZINC02169830
adenine-D-ribose
adenosine
alpha-Ara A
beta-Adenosine
beta-Ara A
beta-D-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.64-comp4
nchembio706-5
4
Fludarabine109221679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
5
Cyclophosphamide275650-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
6Alkylating Agents4573
7
Busulfan53255-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
8
alemtuzumab303216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab

Interventional clinical trials:

idNameStatusNCT IDPhase
1Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune DeficienciesRecruitingNCT01652092

Search NIH Clinical Center for Griscelli Syndrome, Type 2

Genetic Tests for Griscelli Syndrome, Type 2

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Genetic tests related to Griscelli Syndrome, Type 2:

id Genetic test Affiliating Genes
1 Griscelli Syndrome Type 225
2 Griscelli Syndrome, Type 223 RAB27A

Anatomical Context for Griscelli Syndrome, Type 2

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MalaCards organs/tissues related to Griscelli Syndrome, Type 2:

34
Skin, Bone marrow, Bone, Neutrophil, Eye, Cerebellum

Animal Models for Griscelli Syndrome, Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Griscelli Syndrome, Type 2:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.3CCL5, IL10, MLPH, MYO5A, RAB27A, UNC13D

Publications for Griscelli Syndrome, Type 2

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Articles related to Griscelli Syndrome, Type 2:

(show all 20)
idTitleAuthorsYear
1
Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. (26960655)
2016
2
Seizure as the presenting manifestation in griscelli syndrome type 2. (25801174)
2015
3
An Indian boy with griscelli syndrome type 2: case report and review of literature. (25071262)
2014
4
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). (25544030)
2014
5
Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. (24678334)
2014
6
Cerebellar involvement of Griscelli syndrome type 2. (25315806)
2014
7
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. (23714271)
2013
8
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. (22111599)
2011
9
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. (20034795)
2010
10
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. (19953648)
2010
11
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. (20591709)
2010
12
A novel RAB27A mutation in a patient with Griscelli syndrome type 2. (21314004)
2010
13
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. (20370853)
2010
14
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. (19270433)
2009
15
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. (19403888)
2009
16
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. (18350256)
2008
17
Griscelli syndrome type 2: a rare and lethal disorder. (18403584)
2008
18
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). (18991284)
2008
19
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. (19030707)
2008
20
Griscelli syndrome type 2; a pediatric case with immunodeficiency. (17893437)
2007

Variations for Griscelli Syndrome, Type 2

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UniProtKB/Swiss-Prot genetic disease variations for Griscelli Syndrome, Type 2:

68
id Symbol AA change Variation ID SNP ID
1RAB27Ap.Trp73GlyVAR_010654rs28938176
2RAB27Ap.Leu130ProVAR_011334rs104894498
3RAB27Ap.Ala152ProVAR_011335rs104894499

Clinvar genetic disease variations for Griscelli Syndrome, Type 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RAB27ANM_183235.2(RAB27A): c.217T> G (p.Trp73Gly)single nucleotide variantPathogenicrs28938176GRCh37Chr 15, 55522621: 55522621
2RAB27ARAB27A, INV3DS, A-G, +3single nucleotide variantPathogenic
3RAB27ARAB27A, 550C-Tsingle nucleotide variantPathogenic
4RAB27ARAB27A, 67.5-KB DELdeletionPathogenic
5RAB27ANM_183235.2(RAB27A): c.389T> C (p.Leu130Pro)single nucleotide variantPathogenicrs104894498GRCh37Chr 15, 55516165: 55516165
6RAB27ANM_183235.2(RAB27A): c.454G> C (p.Ala152Pro)single nucleotide variantPathogenicrs104894499GRCh37Chr 15, 55516100: 55516100
7RAB27ARAB27A, 2-BP DEL, 51CTdeletionPathogenic
8RAB27ARAB27A, IVS5, G-C, +1single nucleotide variantPathogenic
9RAB27ANM_183235.2(RAB27A): c.352C> T (p.Gln118Ter)single nucleotide variantPathogenicrs104894500GRCh37Chr 15, 55516202: 55516202
10RAB27ANM_183235.2(RAB27A): c.259G> C (p.Ala87Pro)single nucleotide variantPathogenicrs104894497GRCh37Chr 15, 55520891: 55520891

Expression for genes affiliated with Griscelli Syndrome, Type 2

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Search GEO for disease gene expression data for Griscelli Syndrome, Type 2.

Pathways for genes affiliated with Griscelli Syndrome, Type 2

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Pathways related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7RAB27A, UNC13D
29.3MLPH, RAB27A, UNC13D

GO Terms for genes affiliated with Griscelli Syndrome, Type 2

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Cellular components related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Weibel-Palade bodyGO:003309310.3RAB27A, UNC13D
2photoreceptor outer segmentGO:000175010.0MYO5A, RAB27A
3exocytic vesicleGO:00703829.7RAB27A, UNC13D
4late endosomeGO:00057709.4MYO5A, RAB27A, UNC13D
5lysosomeGO:00057649.2MYO5A, RAB27A, UNC13D

Biological processes related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of regulated secretory pathwayGO:190330710.3RAB27A, UNC13D
2melanosome localizationGO:003240010.1MYO5A, RAB27A
3positive regulation of exocytosisGO:004592110.1RAB27A, UNC13D
4natural killer cell degranulationGO:004332010.1RAB27A, UNC13D
5melanocyte differentiationGO:003031810.0MYO5A, RAB27A
6melanosome transportGO:00324029.7MYO5A, RAB27A
7pigmentationGO:00434739.6MYO5A, RAB27A
8response to insulinGO:00328689.3CCL5, IL10
9positive regulation of JAK-STAT cascadeGO:00464279.2CCL5, IL10
10response to activityGO:00148238.7CCL5, IL10
11exocytosisGO:00068878.7CCL5, MYO5A, RAB27A

Molecular functions related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Rab GTPase bindingGO:00171379.1MLPH, MYO5A, UNC13D

Sources for Griscelli Syndrome, Type 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet