SGD2
MCID: SPC025
MIFTS: 22

Specific Granule Deficiency 2 (SGD2)

Categories: Bone diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Specific Granule Deficiency 2

MalaCards integrated aliases for Specific Granule Deficiency 2:

Name: Specific Granule Deficiency 2 58 76 30 6
Sgd2 58 76

Characteristics:

OMIM:

58
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)


HPO:

33
specific granule deficiency 2:
Onset and clinical course congenital onset


Classifications:



Summaries for Specific Granule Deficiency 2

OMIM : 58 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 bone, neutrophil and bone marrow, and related phenotypes are failure to thrive and anemia

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Specific Granule Deficiency 2:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 very rare (1%) HP:0001508
2 anemia 33 very rare (1%) HP:0001903
3 thrombocytopenia 33 very rare (1%) HP:0001873
4 neutropenia 33 very rare (1%) HP:0001875
5 nail dysplasia 33 very rare (1%) HP:0002164
6 fragile nails 33 very rare (1%) HP:0001808
7 low-set ears 33 HP:0000369
8 myelodysplasia 33 HP:0002863
9 recurrent otitis media 33 HP:0000403
10 abnormality of the pinna 33 HP:0000377
11 recurrent bacterial infections 33 HP:0002718
12 absent neutrophil specific granules 33 HP:0012551

Symptoms via clinical synopsis from OMIM:

58
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 Completed 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 30 SMARCD2

Anatomical Context for Specific Granule Deficiency 2

MalaCards organs/tissues related to Specific Granule Deficiency 2:

42
Bone, Neutrophil, Bone Marrow

Publications for Specific Granule Deficiency 2

Articles related to Specific Granule Deficiency 2:

# Title Authors Year
1
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. ( 28369036 )
2017
2
A new semisynthetic penicillin--SGD2. Diarylacrylic acid and SGD2 penicillin synthesis. ( 5552555 )
1971
3
A new semisynthetic penicillin: SGD2. Determination of its antibacterial activity. ( 5552556 )
1971
4
A new semisynthetic penicillin--SGD2. Determination of its acute toxicity and control of the hypotensive effect. ( 5552557 )
1971

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_438dup (p.Gln147Glufs) duplication Pathogenic rs1555580263 GRCh37 Chromosome 17, 61914561: 61914585
4 SMARCD2 NM_001098426.1(SMARCD2): c.414_438dup (p.Gln147Glufs) duplication Pathogenic rs1555580263 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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