SGD2
MCID: SPC025
MIFTS: 24

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 57 72 29 6
Sgd2 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
specific granule deficiency 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



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) (Updated 20-May-2021)

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 marrow and bone, and related phenotypes are failure to thrive and global developmental delay

UniProtKB/Swiss-Prot : 72 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:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 global developmental delay 31 very rare (1%) HP:0001263
3 anemia 31 very rare (1%) HP:0001903
4 thrombocytopenia 31 very rare (1%) HP:0001873
5 neutropenia 31 very rare (1%) HP:0001875
6 nail dysplasia 31 very rare (1%) HP:0002164
7 fragile nails 31 very rare (1%) HP:0001808
8 osteopenia 31 HP:0000938
9 low-set ears 31 HP:0000369
10 recurrent otitis media 31 HP:0000403
11 myelodysplasia 31 HP:0002863
12 brachydactyly 31 HP:0001156
13 sandal gap 31 HP:0001852
14 recurrent pneumonia 31 HP:0006532
15 diarrhea 31 HP:0002014
16 hirsutism 31 HP:0001007
17 abnormality of the pinna 31 HP:0000377
18 recurrent bacterial infections 31 HP:0002718
19 absent neutrophil specific granules 31 HP:0012551

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

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

Head And Neck Ears:
dysplastic ears
otitis media, recurrent

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

Abdomen Gastrointestinal:
diarrhea, chronic

Abdomen External Features:
delayed separation of umbilical cord

Skeletal:
osteopenia

Skeletal Hands:
brachydactyly

Skin Nails Hair Hair:
hirsutism

Skin Nails Hair Nails:
dysplastic nails
brittle nails

Respiratory Lung:
pneumonia, recurrent

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

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

Clinical features from OMIM®:

617475 (Updated 20-May-2021)

Drugs & Therapeutics for Specific Granule Deficiency 2

Search Clinical Trials , 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:

40
Neutrophil, Bone Marrow, Bone

Publications for Specific Granule Deficiency 2

Articles related to Specific Granule Deficiency 2:

# Title Authors PMID Year
1
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. 57 6
28369036 2017
2
SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPÉ› dependent mechanism. 57
28369034 2017
3
Small Grain and Dwarf 2, encoding an HD-Zip II family transcription factor, regulates plant development by modulating gibberellin biosynthesis in rice. 61
31521223 2019
4
Pharmacokinetic comparisons of two different combinations of Shaoyao-Gancao Decoction in rats: competing mechanisms between paeoniflorin and glycyrrhetinic acid. 61
23867078 2013
5
Aptamers evolved from cultured cancer cells reveal molecular differences of cancer cells in patient samples. 61
17463173 2007
6
Salivary enzyme polymorphisms (Set, Sgd and AMY1) in the Galician population. 61
2454216 1988
7
[Action of penicillin SGD2 on some hepatic, renal and cerebral enzyme activities]. 61
550257 1979
8
A new semisynthetic penicillin: SGD2. Determination of its antibacterial activity. 61
5552556 1971
9
A new semisynthetic penicillin--SGD2. Diarylacrylic acid and SGD2 penicillin synthesis. 61
5552555 1971
10
A new semisynthetic penicillin--SGD2. Determination of its acute toxicity and control of the hypotensive effect. 61
5552557 1971

Variations for Specific Granule Deficiency 2

ClinVar genetic disease variations for Specific Granule Deficiency 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCD2 NM_001098426.2(SMARCD2):c.1181+1G>A SNV Pathogenic 369729 rs1057518731 GRCh37: 17:61911268-61911268
GRCh38: 17:63833908-63833908
2 SMARCD2 NM_001098426.2(SMARCD2):c.414_438dup (p.Gln147delinsGluAspGlyArgTer) Duplication Pathogenic 369730 rs1555580263 GRCh37: 17:61914560-61914561
GRCh38: 17:63837200-63837201
3 SMARCD2 NM_001098426.2(SMARCD2):c.401+2T>C SNV Pathogenic 369731 rs1057518733 GRCh37: 17:61914799-61914799
GRCh38: 17:63837439-63837439
4 SMARCD2 NM_001098426.2(SMARCD2):c.568-1G>C SNV Likely pathogenic 804421 rs112986541 GRCh37: 17:61912928-61912928
GRCh38: 17:63835568-63835568

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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