MCID: SPC006
MIFTS: 30

Specific Granule Deficiency malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Specific Granule Deficiency

Aliases & Descriptions for Specific Granule Deficiency:

Name: Specific Granule Deficiency 54 29 13 52 69
Recurrent Infection Due to Specific Granule Deficiency 56
Neutrophil Secondary Granule Deficiency 69
Neutrophil-Specific Granule Deficiency 56

Characteristics:

Orphanet epidemiological data:

56
recurrent infection due to specific granule deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
specific granule deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 245480
Orphanet 56 ORPHA169142
ICD10 via Orphanet 34 D71

Summaries for Specific Granule Deficiency

MalaCards based summary : Specific Granule Deficiency, also known as recurrent infection due to specific granule deficiency, is related to neutrophil-specific granule deficiency and nodding syndrome, and has symptoms including recurrent infections, hyposegmentation of neutrophil nuclei and absent neutrophil specific granules. An important gene associated with Specific Granule Deficiency is CEBPE (CCAAT/Enhancer Binding Protein Epsilon). The drugs Liver Extracts and Orange have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, testes and monocytes.

Description from OMIM: 245480

Related Diseases for Specific Granule Deficiency

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

id Related Disease Score Top Affiliating Genes
1 neutrophil-specific granule deficiency 12.5
2 nodding syndrome 10.0 CEBPE SCARB1
3 chediak-higashi syndrome 9.6
4 narcolepsy 5 9.1 CEBPE GFI1 LTF SCARB1 SMARCD2

Symptoms & Phenotypes for Specific Granule Deficiency

Symptoms by clinical synopsis from OMIM:

245480

Clinical features from OMIM:

245480

Human phenotypes related to Specific Granule Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 recurrent infections 32 HP:0002719
2 hyposegmentation of neutrophil nuclei 32 HP:0011447
3 absent neutrophil specific granules 32 HP:0012551

Drugs & Therapeutics for Specific Granule Deficiency

Drugs for Specific Granule Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 2, Phase 3,Phase 1
2 Orange Nutraceutical Phase 2, Phase 3
3 Licorice Nutraceutical Phase 2, Phase 3
4 Bitter Orange Nutraceutical Phase 2, Phase 3
5
Sunitinib Approved, Investigational Phase 1 341031-54-7, 557795-19-4 5329102
6 Imatinib Mesylate Phase 1 123596
7 Angiogenesis Inhibitors Phase 1
8 Angiogenesis Modulating Agents Phase 1
9 Protein Kinase Inhibitors Phase 1
10
Cyclosporine Approved, Investigational, Vet_approved 79217-60-0, 59865-13-3 5284373 6435893
11
Mycophenolic acid Approved 24280-93-1 446541
12
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
13
Fludarabine Approved 21679-14-1, 75607-67-9 30751
14
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
15 Dermatologic Agents
16 Vidarabine Phosphate
17 Anti-Bacterial Agents
18 Anti-Infective Agents
19 Immunosuppressive Agents
20 Antifungal Agents
21 Antimetabolites
22 Antibiotics, Antitubercular
23 Antimetabolites, Antineoplastic
24 Antirheumatic Agents
25 Calcineurin Inhibitors

Interventional clinical trials:


id Name Status NCT ID Phase
1 Traditional Chinese Medicine for Treatment of Irritable Bowel Syndrome Recruiting NCT03135821 Phase 2, Phase 3
2 Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy Completed NCT00890747 Phase 1
3 Imatinib Mesylate in Treating Patients With Advanced Cancer and Liver Dysfunction Completed NCT00025415 Phase 1
4 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
5 Fludarabine and Total-Body Irradiation Followed By Donor Stem Cell Transplant and Cyclosporine and Mycophenolate Mofetil in Treating HIV-Positive Patients With or Without Cancer Completed NCT00112593
6 Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency Recruiting NCT01016392
7 Massage Therapy Given by Caregiver in Treating Quality of Life of Young Patients Undergoing Treatment for Cancer Active, not recruiting NCT01053494

Search NIH Clinical Center for Specific Granule Deficiency

Genetic Tests for Specific Granule Deficiency

Genetic tests related to Specific Granule Deficiency:

id Genetic test Affiliating Genes
1 Specific Granule Deficiency 29

Anatomical Context for Specific Granule Deficiency

MalaCards organs/tissues related to Specific Granule Deficiency:

39
Neutrophil, Testes, Monocytes, Myeloid

Publications for Specific Granule Deficiency

Articles related to Specific Granule Deficiency:

(show all 17)
id Title Authors Year
1
A Novel In-Frame Deletion in the Leucine Zipper Domain of C/EBPI/ Leads to Neutrophil-Specific Granule Deficiency. ( 26019275 )
2015
2
Clinical course in a patient with neutrophil-specific granule deficiency and rapid detection of neutrophil granules as a screening test. ( 25081842 )
2014
3
Neutrophil-specific granule deficiency. ( 23294125 )
2013
4
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. ( 17244686 )
2007
5
Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation. ( 16407388 )
2006
6
Aberrant expression of neutrophil and macrophage-related genes in a murine model for human neutrophil-specific granule deficiency. ( 16204633 )
2005
7
Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency. ( 14576362 )
2004
8
Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). ( 11753076 )
2002
9
Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon. ( 11313242 )
2001
10
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. ( 10359588 )
1999
11
A marked decrease in defensin mRNA in the only case of congenital neutrophil-specific granule deficiency reported in Japan. ( 8018907 )
1994
12
Ultrastructure of neutrophilic phagosome of autologous platelet in vivo in specific granule deficiency. ( 8342544 )
1993
13
Neutrophil-specific granule deficiency includes eosinophils. ( 8324226 )
1993
14
Correlation of messenger RNA levels with protein defects in specific granule deficiency. ( 1327289 )
1992
15
Selective defect in myeloid cell lactoferrin gene expression in neutrophil specific granule deficiency. ( 2536400 )
1989
16
Neutrophil specific granule deficiency. ( 3888052 )
1985
17
Human neutrophil-specific granule deficiency: a model to assess the role of neutrophil-specific granules in the evolution of the inflammatory response. ( 7044447 )
1982

Variations for Specific Granule Deficiency

ClinVar genetic disease variations for Specific Granule Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CEBPE CEBPE, 5-BP DEL, NT224 deletion Pathogenic
2 CEBPE CEBPE, 1-BP INS, 1113A insertion Pathogenic
3 SMARCD2 NM_001098426.1(SMARCD2): c.1181+1G> A single nucleotide variant Pathogenic rs1057518731 GRCh37 Chromosome 17, 61911268: 61911268
4 SMARCD2 NM_001098426.1(SMARCD2): c.414_438dup25 (p.Gln147Glufs) duplication Pathogenic rs1057518732 GRCh37 Chromosome 17, 61914561: 61914585
5 SMARCD2 NM_001098426.1(SMARCD2): c.401+2T> C single nucleotide variant Pathogenic rs1057518733 GRCh38 Chromosome 17, 63837439: 63837439

Expression for Specific Granule Deficiency

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

Pathways for Specific Granule Deficiency

GO Terms for Specific Granule Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.46 CEBPE GFI1 LTF SMARCD2
2 defense response to bacterium GO:0042742 9.26 CEBPE LTF
3 transcription, DNA-templated GO:0006351 9.26 CEBPE GFI1 LTF SMARCD2
4 cellular response to lipopolysaccharide GO:0071222 8.62 CEBPE GFI1

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

id Name GO ID Score Top Affiliating Genes
1 lipopolysaccharide binding GO:0001530 8.62 LTF SCARB1

Sources for Specific Granule Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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