MCID: GRS014
MIFTS: 48

Griscelli Syndrome, Type 2 malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Blood diseases, Neuronal diseases, Immune diseases categories

Aliases & Classifications for Griscelli Syndrome, Type 2

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Griscelli Syndrome, Type 2:

Name: Griscelli Syndrome, Type 2 49 11 47 65
Griscelli Syndrome Type 2 45 22
Griscelli Disease Type 2 51 24
Gs2 45 67
Hypopigmentation - Immunodeficiency with or Without Neurologic Impairment 51
Griscelli Syndrome with Hemophagocytic Syndrome 45
 
Partial Albinism and Immunodeficiency Syndrome 45
Griscelli-Pruniéras Syndrome Type 2 51
Griscelli Syndrome 2 67
Paid Syndrome 45
Paid Sndrome 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
griscelli disease type 2:
Inheritance: Autosomal recessive


External Ids:

OMIM49 607624
Orphanet51 79477
ICD10 via Orphanet28 E70.3
MESH via Orphanet37 C537302
UMLS via Orphanet66 C1868679
MedGen34 C1868679

Summaries for Griscelli Syndrome, Type 2

About this section
UniProtKB/Swiss-Prot:67 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.

MalaCards based summary: Griscelli Syndrome, Type 2, also known as griscelli syndrome type 2, is related to griscelli syndrome and hematopoietic stem cell transplantation, 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 and bone marrow, and related mouse phenotypes are pigmentation and immune system.

Wikipedia:68 Griscelli syndrome type 2 (also known as \"Partial albinism with immunodeficiency\") is a rare autosomal... more...

Description from OMIM:49 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 30)
idRelated DiseaseScoreTop Affiliating Genes
1griscelli syndrome10.9
2hematopoietic stem cell transplantation10.4
3hemophagocytic lymphohistiocytosis10.4
4griscelli syndrome, type 110.3
5lymphomatoid granulomatosis10.3
6myositis10.3
7griscelli syndrome, type 310.2MLPH, MYO5A
8pharyngitis10.1CCL5, IL10
9pulmonary valve agenesis - fallot's tetralogy - absence of ductus arteriosus10.1CCL5, IL10
10sternum cancer10.1CCL5, IL10
11mycobacterium abscessus10.1CCL5, IL10
12decubitus ulcer10.1CCL5, IL10
13dawson disease10.1CCL5, IL10
14acquired immunodeficiency syndrome10.1CCL5, IL10
15polyradiculopathy10.1CCL5, IL10
16alzheimer disease 1610.1AGFG1, RAB27A
17idiopathic spinal cord herniation10.1CCL5, IL10
18total anomalous pulmonary venous return10.1MLPH, MYO5A, RAB27A
19benign eccrine breast spiradenoma10.1CCL5, IL10
20focal chorioretinitis10.0CCL5, IL10
21macrophagic myofasciitis10.0RAB27A, UNC13D
22hypoglycemic coma10.0CCL5, IL10
23bronchial neoplasm10.0CCL5, IL10
24tuberculosis10.0CCL5, IL10
25chediak-higashi syndrome10.0RAB27A, UNC13D
26lymphoblastic leukemia9.9RAB27A, UNC13D
27brachial plexus neuritis9.9CCL5, IL10
28hepatitis9.9IL10, RAB27A, UNC13D
29grix blankenship peterson syndrome9.2AGFG1, CCL5, IL10, MLPH, MYO5A, RAB27A
30craniosynostosis 38.7AGFG1, 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

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Symptoms by clinical synopsis from OMIM:

607624

Clinical features from OMIM:

607624

Symptoms:

 51 (show all 21)
  • irregular/patchy skin hypopigmentation
  • premature greying of hair
  • decreased hair pigmentation/hypopigmentation of hair
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • autosomal recessive inheritance
  • hepatitis/icterus/cholestasis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • lymphadenopathy/polyadenopathies
  • polynuclear cells/neutrophils anomalies/neutropenia
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • iris albinism/ocular albinism
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • purpura/petichiae
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • splenomegaly
  • lung/pulmonary infiltrates
  • meningitis/meningeal syndrome
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • bone marrow failure/pancytopenia
  • fever/chilling

HPO human phenotypes related to Griscelli Syndrome, Type 2:

(show all 31)
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 immune system physiology hallmark (90%) HP:0010978
5 abnormality of neutrophils typical (50%) HP:0001874
6 hepatomegaly typical (50%) HP:0002240
7 lymphadenopathy typical (50%) HP:0002716
8 abnormality of lipid metabolism typical (50%) HP:0003119
9 ocular albinism occasional (7.5%) HP:0001107
10 seizures occasional (7.5%) HP:0001250
11 hypertonia occasional (7.5%) HP:0001276
12 meningitis occasional (7.5%) HP:0001287
13 splenomegaly occasional (7.5%) HP:0001744
14 subcutaneous hemorrhage occasional (7.5%) HP:0001933
15 nausea and vomiting occasional (7.5%) HP:0002017
16 pulmonary infiltrates occasional (7.5%) HP:0002113
17 abnormality of temperature regulation occasional (7.5%) HP:0004370
18 bone marrow hypocellularity occasional (7.5%) HP:0005528
19 autosomal recessive inheritance HP:0000007
20 accumulation of melanosomes in melanocytes HP:0001008
21 hypopigmentation of the skin HP:0001010
22 seizures HP:0001250
23 spasticity HP:0001257
24 abnormality of the cerebellum HP:0001317
25 silver-gray hair HP:0002218
26 melanin pigment aggregation in hair shafts HP:0002220
27 progressive neurologic deterioration HP:0002344
28 recurrent bacterial infections HP:0002718
29 reduced delayed hypersensitivity HP:0002972
30 infantile onset HP:0003593
31 death in childhood HP:0003819

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
Melphalanapproved664148-82-34053, 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 Hydrochloride
Melphalan [USAN:INN:BAN:JAN]
Melphalan hydrochloride
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
Vidarabineapproved22024356-66-932326, 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
3
alemtuzumabapproved, investigational293216503-57-0
Synonyms:
Campath
 
Lemtrada
Mabcampath
alemtuzumab
4
Fludarabineapproved100821679-14-1, 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-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-Fluoro-ara AMP
2-Fluoroadenine arabinoside 5'-monophosphate
21679-14-1
2F-Ara-AMP
9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate
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 Phosphate
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
Oforta
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
5
Busulfanapproved, investigational48655-98-12478
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)
6
Cyclophosphamideapproved, investigational252550-18-0, 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
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
7Fludarabine phosphate100830751
8
Mesna2333375-50-6598
Synonyms:
2-Mercaptoethanesulfonate
2-Mercaptoethanesulfonic acid
 
CoM
Coenzyme M
HS-CoM

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 222 RAB27A
2 Griscelli Syndrome Type 224

Anatomical Context for Griscelli Syndrome, Type 2

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

33
Skin, Bone, Bone marrow, Neutrophil, Lung, Cerebellum, Eye

Animal Models for Griscelli Syndrome, Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Griscelli Syndrome, Type 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4MLPH, MYO5A, RAB27A
2MP: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 18)
idTitleAuthorsYear
1
Seizure as the presenting manifestation in griscelli syndrome type 2. (25801174)
2015
2
Cerebellar involvement of Griscelli syndrome type 2. (25315806)
2014
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
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. (23714271)
2013
7
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. (22111599)
2011
8
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. (20034795)
2010
9
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. (20591709)
2010
10
A novel RAB27A mutation in a patient with Griscelli syndrome type 2. (21314004)
2010
11
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. (19953648)
2010
12
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. (19270433)
2009
13
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. (19403888)
2009
14
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). (18991284)
2008
15
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. (18350256)
2008
16
Griscelli syndrome type 2: a rare and lethal disorder. (18403584)
2008
17
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. (19030707)
2008
18
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:

67
id Symbol AA change Variation ID SNP ID
1RAB27Ap.Trp73GlyVAR_010654rs28938176
2RAB27Ap.Leu130ProVAR_011334
3RAB27Ap.Ala152ProVAR_011335

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 pathways (with members indented)ScoreTop 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
1exocytic vesicleGO:007038210.3RAB27A, UNC13D
2Weibel-Palade bodyGO:003309310.3RAB27A, UNC13D
3photoreceptor outer segmentGO:00017509.9MYO5A, RAB27A
4lysosomeGO:00057649.2MYO5A, RAB27A, UNC13D
5late endosomeGO:00057709.1MYO5A, RAB27A, UNC13D

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

(show all 10)
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
4melanosome transportGO:003240210.0MYO5A, RAB27A
5natural killer cell degranulationGO:00433209.9RAB27A, UNC13D
6melanocyte differentiationGO:00303189.8MYO5A, RAB27A
7response to activityGO:00148239.0CCL5, IL10
8positive regulation of JAK-STAT cascadeGO:00464278.9CCL5, IL10
9exocytosisGO:00068878.9CCL5, MYO5A, RAB27A
10response to insulinGO:00328688.7CCL5, IL10

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
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