SGD1
MCID: SPC026
MIFTS: 30

Specific Granule Deficiency 1 (SGD1)

Categories: Genetic diseases

Aliases & Classifications for Specific Granule Deficiency 1

MalaCards integrated aliases for Specific Granule Deficiency 1:

Name: Specific Granule Deficiency 1 57 74
Specific Granule Deficiency 57 29 13 55 6 40 72
Sgd1 57 74
Lactoferrin-Deficient Neutrophils 57
Neutrophil Lactoferrin Deficiency 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
specific granule deficiency 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D007960
UMLS 72 C0398593

Summaries for Specific Granule Deficiency 1

UniProtKB/Swiss-Prot : 74 Specific granule deficiency 1: An autosomal recessive disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. Neutrophils of affected individuals lack lactoferrin and show abnormal nuclear segmentation, bilobed nuclei, low alkaline phosphatase, and increased number of neutrophil mitochondria and ribosomes.

MalaCards based summary : Specific Granule Deficiency 1, also known as specific granule deficiency, is related to neutrophil-specific granule deficiency and specific granule deficiency 2. An important gene associated with Specific Granule Deficiency 1 is CEBPE (CCAAT Enhancer Binding Protein Epsilon). Affiliated tissues include neutrophil, myeloid and monocytes, and related phenotypes are recurrent bacterial infections and hyposegmentation of neutrophil nuclei

Wikipedia : 75 Specific granules are secretory vesicles found exclusively in cells of the immune system called... more...

More information from OMIM: 245480 PS245480

Related Diseases for Specific Granule Deficiency 1

Diseases related to Specific Granule Deficiency 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neutrophil-specific granule deficiency 31.1 SMARCD2 CEBPE
2 specific granule deficiency 2 11.3
3 bacterial infectious disease 10.2
4 chediak-higashi syndrome 9.8
5 lymphoproliferative syndrome 9.8
6 diarrhea 9.8
7 impetigo 9.8

Graphical network of the top 20 diseases related to Specific Granule Deficiency 1:



Diseases related to Specific Granule Deficiency 1

Symptoms & Phenotypes for Specific Granule Deficiency 1

Human phenotypes related to Specific Granule Deficiency 1:

32
# Description HPO Frequency HPO Source Accession
1 recurrent bacterial infections 32 HP:0002718
2 hyposegmentation of neutrophil nuclei 32 HP:0011447
3 impaired neutrophil bactericidal activity 32 HP:0011993
4 absent neutrophil specific granules 32 HP:0012551

Symptoms via clinical synopsis from OMIM:

57
Misc:
recurrent infections

Lab:
absent neutrophil specific granules
absent neutrophil lactoferrin
abnormal neutrophil nuclear segmentation
neutrophil nuclear clefts
low neutrophil alkaline phosphatase
more

Clinical features from OMIM:

245480

Drugs & Therapeutics for Specific Granule Deficiency 1

Search Clinical Trials , NIH Clinical Center for Specific Granule Deficiency 1

Genetic Tests for Specific Granule Deficiency 1

Genetic tests related to Specific Granule Deficiency 1:

# Genetic test Affiliating Genes
1 Specific Granule Deficiency 29 CEBPE

Anatomical Context for Specific Granule Deficiency 1

MalaCards organs/tissues related to Specific Granule Deficiency 1:

41
Neutrophil, Myeloid, Monocytes, Testes

Publications for Specific Granule Deficiency 1

Articles related to Specific Granule Deficiency 1:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon. 38 8 71
11313242 2001
2
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. 38 8 71
10359588 1999
3
Selective defect in myeloid cell lactoferrin gene expression in neutrophil specific granule deficiency. 38 8
2536400 1989
4
Microbicidal/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and "specific" granule deficiency. 38 8
2841356 1988
5
Lactoferrin deficiency as a consequence of a lack of specific granules in neutrophils from a patient with recurrent infections. Detection by immunoperoxidase staining for lactoferrin and cytochemical electron microscopy. 38 8
6155073 1980
6
Lactoferrin deficiency associated with altered granulocyte function. 8
7088114 1982
7
An anomaly of neutrophil morphology with impaired function. 8
4129798 1974
8
Stimulus-dependent impairment of the neutrophil oxidative burst response in lactoferrin-deficient mice. 9 38
18321995 2008
9
Highly glycosylated alpha1-acid glycoprotein is synthesized in myelocytes, stored in secondary granules, and released by activated neutrophils. 9 38
15941779 2005
10
C/EBPε ΔRS derived from a neutrophil-specific granule deficiency patient interacts with HDAC1 and its dysfunction is restored by trichostatin A. 38
31256937 2019
11
Identification of a novel enhancer of CEBPE essential for granulocytic differentiation. 38
30952671 2019
12
Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy. 38
31201888 2019
13
CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils. 38
29651288 2018
14
SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPɛ dependent mechanism. 38
28369034 2017
15
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. 38
28369036 2017
16
c-Myb acts in parallel and cooperatively with Cebp1 to regulate neutrophil maturation in zebrafish. 38
27268086 2016
17
Role of the Leucine Zipper Domain of CCAAT/ Enhancer Binding Protein-Epsilon (C/EBPε) in Neutrophil-Specific Granule Deficiency. 38
28322138 2016
18
A Novel In-Frame Deletion in the Leucine Zipper Domain of C/EBPε Leads to Neutrophil-Specific Granule Deficiency. 38
26019275 2015
19
The antimicrobial propeptide hCAP-18 plasma levels in neutropenia of various aetiologies: a prospective study. 38
26119962 2015
20
Clinical course in a patient with neutrophil-specific granule deficiency and rapid detection of neutrophil granules as a screening test. 38
25081842 2014
21
Disorders of neutrophil function: an overview. 38
24504971 2014
22
Human α-defensin expression is not dependent on CCAAT/enhancer binding protein-ε in a murine model. 38
24658030 2014
23
Congenital candidiasis as a subject of research in medicine and human ecology. 38
25281815 2014
24
Impaired neutrophil function in 24p3 null mice contributes to enhanced susceptibility to bacterial infections. 38
23543755 2013
25
Neutrophil-specific granule deficiency. 38
23294125 2013
26
C/EBPε mediates nicotinamide-enhanced clearance of Staphylococcus aureus in mice. 38
22922257 2012
27
C/EBPepsilon directs granulocytic-vs-monocytic lineage determination and confers chemotactic function via Hlx. 38
19925846 2010
28
Derangement of transcription factor profiles during in vitro differentiation of HL60 and NB4 cells. 38
16942795 2007
29
Expression of bactericidal/permeability-increasing protein requires C/EBP epsilon. 38
17483073 2007
30
Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene. 38
17244686 2007
31
Disorders of neutrophil function: an overview. 38
18453130 2007
32
Haptoglobin is synthesized during granulocyte differentiation, stored in specific granules, and released by neutrophils in response to activation. 38
16543473 2006
33
All-trans retinoic acid-induced expression of bactericidal/permeability-increasing protein (BPI) in human myeloid cells correlates to binding of C/EBPbeta and C/EBPepsilon to the BPI promoter. 38
16684888 2006
34
Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation. 38
16407388 2006
35
Aberrant expression of neutrophil and macrophage-related genes in a murine model for human neutrophil-specific granule deficiency. 38
16204633 2005
36
Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency. 38
14576362 2004
37
White blood cell defects: molecular discoveries and clinical management. 38
12165204 2002
38
Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). 38
11753076 2002
39
Deficiency of the specific granule proteins, R-binder/transcobalamin I and lactoferrin, in plasma and saliva: a new disorder. 38
11298376 2001
40
The role of C/EBP(epsilon) in the terminal stages of granulocyte differentiation. 38
11239167 2001
41
Inherited Neutrophil Disorders: Molecular Basis and New Therapies. 38
11701548 2000
42
CCAAT/enhancer binding protein epsilon is critical for effective neutrophil-mediated response to inflammatory challenge. 38
10216107 1999
43
[Neutrophil lactoferrin deficiency]. 9
9833431 1998
44
CCAAT displacement protein (CDP/cut) recognizes a silencer element within the lactoferrin gene promoter. 38
9326246 1997
45
Heterogeneity of peroxidase positive granules in normal and pathologic human neutrophils. 38
9293701 1997
46
A marked decrease in defensin mRNA in the only case of congenital neutrophil-specific granule deficiency reported in Japan. 38
8018907 1994
47
Neutrophil-specific granule deficiency includes eosinophils. 38
8324226 1993
48
Ultrastructure of neutrophilic phagosome of autologous platelet in vivo in specific granule deficiency. 38
8342544 1993
49
Correlation of messenger RNA levels with protein defects in specific granule deficiency. 38
1327289 1992
50
Unique human neutrophil populations are defined by monoclonal antibody ED12F8C10. 38
1829650 1991

Variations for Specific Granule Deficiency 1

ClinVar genetic disease variations for Specific Granule Deficiency 1:

6 (show all 25)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SMARCD2 NM_001098426.2(SMARCD2): c.1181+1G> A single nucleotide variant Pathogenic rs1057518731 17:61911268-61911268 17:63833908-63833908
2 SMARCD2 NM_001098426.2(SMARCD2): c.414_438dup (p.Gln147delinsGluAspGlyArgTer) duplication Pathogenic rs1555580263 17:61914561-61914585 17:63837201-63837225
3 SMARCD2 NM_001098426.2(SMARCD2): c.401+2T> C single nucleotide variant Pathogenic rs1057518733 17:61914799-61914799 17:63837439-63837439
4 CEBPE CEBPE, 5-BP DEL, NT224 deletion Pathogenic
5 CEBPE CEBPE, 1-BP INS, 1113A insertion Pathogenic
6 CEBPE NM_001805.3(CEBPE): c.391C> T (p.Arg131Ter) single nucleotide variant Pathogenic rs760325316 14:23587910-23587910 14:23118701-23118701
7 CEBPE NM_001805.3(CEBPE): c.205C> T (p.Leu69Phe) single nucleotide variant Uncertain significance rs146580935 14:23588096-23588096 14:23118887-23118887
8 CEBPE NM_001805.3(CEBPE): c.662G> A (p.Ser221Asn) single nucleotide variant Uncertain significance 14:23586880-23586880 14:23117671-23117671
9 CEBPE NM_001805.3(CEBPE): c.349G> A (p.Ala117Thr) single nucleotide variant Uncertain significance 14:23587952-23587952 14:23118743-23118743
10 CEBPE NM_001805.3(CEBPE): c.611G> C (p.Ser204Thr) single nucleotide variant Uncertain significance 14:23586931-23586931 14:23117722-23117722
11 CEBPE NM_001805.3(CEBPE): c.551T> C (p.Leu184Pro) single nucleotide variant Uncertain significance 14:23586991-23586991 14:23117782-23117782
12 CEBPE NM_001805.3(CEBPE): c.502G> A (p.Val168Ile) single nucleotide variant Uncertain significance 14:23587799-23587799 14:23118590-23118590
13 CEBPE NM_001805.3(CEBPE): c.499C> T (p.Arg167Cys) single nucleotide variant Uncertain significance 14:23587802-23587802 14:23118593-23118593
14 CEBPE NM_001805.3(CEBPE): c.404G> A (p.Arg135Gln) single nucleotide variant Uncertain significance 14:23587897-23587897 14:23118688-23118688
15 CEBPE NM_001805.3(CEBPE): c.373C> T (p.Arg125Trp) single nucleotide variant Uncertain significance 14:23587928-23587928 14:23118719-23118719
16 CEBPE NM_001805.3(CEBPE): c.223C> A (p.Pro75Thr) single nucleotide variant Uncertain significance 14:23588078-23588078 14:23118869-23118869
17 CEBPE NM_001805.3(CEBPE): c.66G> T (p.Gly22=) single nucleotide variant Uncertain significance 14:23588235-23588235 14:23119026-23119026
18 CEBPE NM_001805.3(CEBPE): c.64G> A (p.Gly22Arg) single nucleotide variant Uncertain significance 14:23588237-23588237 14:23119028-23119028
19 CEBPE NM_001805.3(CEBPE): c.496C> G (p.Leu166Val) single nucleotide variant Uncertain significance rs1273577069 14:23587805-23587805 14:23118596-23118596
20 CEBPE NM_001805.3(CEBPE): c.487G> A (p.Gly163Ser) single nucleotide variant Uncertain significance rs762842144 14:23587814-23587814 14:23118605-23118605
21 CEBPE NM_001805.3(CEBPE): c.303G> A (p.Ala101=) single nucleotide variant Likely benign rs149752323 14:23587998-23587998 14:23118789-23118789
22 CEBPE NM_001805.3(CEBPE): c.357G> T (p.Ala119=) single nucleotide variant Likely benign rs202220573 14:23587944-23587944 14:23118735-23118735
23 CEBPE NM_001805.3(CEBPE): c.463C> A (p.Leu155Met) single nucleotide variant Benign rs141903485 14:23587838-23587838 14:23118629-23118629
24 CEBPE NM_001805.3(CEBPE): c.234C> T (p.Pro78=) single nucleotide variant Benign rs114913626 14:23588067-23588067 14:23118858-23118858
25 CEBPE NM_001805.3(CEBPE): c.747C> T (p.Arg249=) single nucleotide variant Benign rs55722931 14:23586795-23586795 14:23117586-23117586

Expression for Specific Granule Deficiency 1

Search GEO for disease gene expression data for Specific Granule Deficiency 1.

Pathways for Specific Granule Deficiency 1

GO Terms for Specific Granule Deficiency 1

Cellular components related to Specific Granule Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 8.62 SMARCD2 LTF

Biological processes related to Specific Granule Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 defense response to bacterium GO:0042742 8.62 LTF CEBPE

Molecular functions related to Specific Granule Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.62 SMARCD2 CEBPE

Sources for Specific Granule Deficiency 1

3 CDC
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10 dbSNP
11 DGIdb
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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