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Parent Node:
expandImmunologic Deficiency Syndromes (D007153)
Parent Node:
expandPiebaldism (D016116)
..Starting node
..expandGriscelli syndrome type 2 (C537302)

       Child Nodes:



 Sister Nodes: 
..expandErmine phenotype (C535508)
..expandGriscelli syndrome type 1 (C537301)
..expandGriscelli syndrome type 2 (C537302)
..expandGriscelli syndrome type 3 (C537303)
..expandTelfer Sugar Jaeger syndrome (C536955)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4819
Name:Griscelli syndrome type 2
Definition:
Alternative IDs:OMIM:607624
ParentIDs:MESH:D007153|MESH:D016116
TreeNumbers:C16.320.290.040.600/C537302 |C16.320.565.100.102.600/C537302 |C16.320.850.080.600/C537302 |C17.800.621.440.102.600/C537302 |C17.800.827.080.600/C537302 |C18.452.648.100.102.600/C537302 |C20.673/C537302
Synonyms:Albinism, partial with immunodeficiency |Griscelli Syndrome, Type 2 |Griscelli syndrome with hemophagocytic syndrome |GS2 |PAID SYNDROME |Partial albinism and immunodeficiency |Partial Albinism And Immunodeficiency Syndrome
Slim Mappings:Genetic disease (inborn)|Immune system disease|Metabolic disease|Skin disease
Reference: MedGen: C537302
MeSH: C537302
OMIM: 607624;

Genes: RAB27A;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0001317Abnormal cerebellum morphology
4 HP:0001008Accumulation of melanosomes in melanocytes
5 HP:0003819Death in childhood
6 HP:0001010Hypopigmentation of the skin
7 HP:0002220Melanin pigment aggregation in hair shafts
8 HP:0002344Progressive neurologic deteriorationHP:0040283
9 HP:0002718Recurrent bacterial infections
10 HP:0002972Reduced delayed hypersensitivity
11 HP:0001250Seizure
12 HP:0002218Silver-gray hair
13 HP:0001257Spasticity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_183235.2(RAB27A):c.454G>C (p.Ala152Pro)5873RAB27APathogenic104894499RCV000006353; NMedGen:C1868679,OMIM:607624,ORPHA:79477155551610055516100NM_183235.2:c.454G>CNP_899058.1:p.Ala152ProNC_000015.9:g.55516100C>GOMIM Allelic Variant:603868.0006C1868679 607624 Griscelli syndrome type 2
NM_183235.2(RAB27A):c.389T>C (p.Leu130Pro)5873RAB27APathogenic104894498RCV000006352; NMedGen:C1868679,OMIM:607624,ORPHA:79477155551616555516165NM_183235.2:c.389T>CNP_899058.1:p.Leu130ProNC_000015.9:g.55516165A>GOMIM Allelic Variant:603868.0005C1868679 607624 Griscelli syndrome type 2
NM_183235.2(RAB27A):c.352C>T (p.Gln118Ter)5873RAB27APathogenic104894500RCV000006356; NMedGen:C1868679,OMIM:607624,ORPHA:79477155551620255516202NM_183235.2:c.352C>TNP_899058.1:p.Gln118TerNC_000015.9:g.55516202G>AOMIM Allelic Variant:603868.0009C1868679 607624 Griscelli syndrome type 2
NM_183235.2(RAB27A):c.259G>C (p.Ala87Pro)5873RAB27APathogenic;Uncertain significance104894497RCV000006357; RCV000169674; NMedGen:C1868679,OMIM:607624,ORPHA:79477; MedGen:CN169374155552089155520891NM_183235.2:c.259G>CNP_899058.1:p.Ala87ProNC_000015.9:g.55520891C>GOMIM Allelic Variant:603868.0010C1868679 607624 Griscelli syndrome type 2; CN169374 not specified
NM_183235.2(RAB27A):c.217T>G (p.Trp73Gly)5873RAB27APathogenic28938176RCV000006348; NMedGen:C1868679,OMIM:607624,ORPHA:79477155552262155522621NM_183235.2:c.217T>GNP_899058.1:p.Trp73GlyNC_000015.9:g.55522621A>COMIM Allelic Variant:603868.0001C1868679 607624 Griscelli syndrome type 2