MCID: SPC025
MIFTS: 16

Specific Granule Deficiency 2

Categories: Genetic diseases

Aliases & Classifications for Specific Granule Deficiency 2

MalaCards integrated aliases for Specific Granule Deficiency 2:

Name: Specific Granule Deficiency 2 57 75 29 6
Sgd2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in early childhood unless hematopoietic stem cell transplant is performed
extra-hematopoietic features are variable
four patients from 3 unrelated consanguineous families have been reported (last curated may 2017)


Classifications:



External Ids:

OMIM 57 617475
MeSH 44 D007960

Summaries for Specific Granule Deficiency 2

OMIM : 57 Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by Witzel et al., 2017). For a discussion of genetic heterogeneity of SGD, see SGD1 (245480). (617475)

MalaCards based summary : Specific Granule Deficiency 2, is also known as sgd2. An important gene associated with Specific Granule Deficiency 2 is SMARCD2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 2). Affiliated tissues include neutrophil, bone and bone marrow.

UniProtKB/Swiss-Prot : 75 Specific granule deficiency 2: A form of specific granule deficiency, an autosomal recessive disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. SGD2 is due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies.

Related Diseases for Specific Granule Deficiency 2

Symptoms & Phenotypes for Specific Granule Deficiency 2

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia

Immunology:
myelodysplasia
recurrent infections
neutropenia
fibrosis
septicemia
more
Skeletal Feet:
sandal gap

Head And Neck Ears:
dysplastic ears
otitis media, recurrent

Abdomen External Features:
delayed separation of umbilical cord

Respiratory Lung:
pneumonia, recurrent

Head And Neck Teeth:
misaligned teeth
irregularly shaped teeth
incomplete amelogenesis

Growth Other:
failure to thrive

Skeletal Hands:
brachydactyly

Skin Nails Hair Hair:
hirsutism

Skin Nails Hair Nails:
dysplastic nails
brittle nails

Hematology:
thrombocytopenia (in some patients)
anemia (in some patients)

Abdomen Gastrointestinal:
diarrhea, chronic

Neurologic Central Nervous System:
global developmental delay (in some patients)


Clinical features from OMIM:

617475

Drugs & Therapeutics for Specific Granule Deficiency 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Trial to Incentivise Adherence for Diabetes Active, not recruiting NCT02224417 Not Applicable

Search NIH Clinical Center for Specific Granule Deficiency 2

Genetic Tests for Specific Granule Deficiency 2

Genetic tests related to Specific Granule Deficiency 2:

# Genetic test Affiliating Genes
1 Specific Granule Deficiency 2 29 SMARCD2

Anatomical Context for Specific Granule Deficiency 2

MalaCards organs/tissues related to Specific Granule Deficiency 2:

41
Neutrophil, Bone, Bone Marrow

Publications for Specific Granule Deficiency 2

Variations for Specific Granule Deficiency 2

ClinVar genetic disease variations for Specific Granule Deficiency 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCD2 NM_001098426.1(SMARCD2): c.1181+1G> A single nucleotide variant Pathogenic rs1057518731 GRCh37 Chromosome 17, 61911268: 61911268
2 SMARCD2 NM_001098426.1(SMARCD2): c.1181+1G> A single nucleotide variant Pathogenic rs1057518731 GRCh38 Chromosome 17, 63833908: 63833908
3 SMARCD2 NM_001098426.1(SMARCD2): c.414_438dup25 (p.Gln147Glufs) duplication Pathogenic rs1057518732 GRCh37 Chromosome 17, 61914561: 61914585
4 SMARCD2 NM_001098426.1(SMARCD2): c.414_438dup25 (p.Gln147Glufs) duplication Pathogenic rs1057518732 GRCh38 Chromosome 17, 63837201: 63837225
5 SMARCD2 NM_001098426.1(SMARCD2): c.401+2T> C single nucleotide variant Pathogenic rs1057518733 GRCh38 Chromosome 17, 63837439: 63837439
6 SMARCD2 NM_001098426.1(SMARCD2): c.401+2T> C single nucleotide variant Pathogenic rs1057518733 GRCh37 Chromosome 17, 61914799: 61914799

Expression for Specific Granule Deficiency 2

Search GEO for disease gene expression data for Specific Granule Deficiency 2.

Pathways for Specific Granule Deficiency 2

GO Terms for Specific Granule Deficiency 2

Sources for Specific Granule Deficiency 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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