SDS2
MCID: SHW007
MIFTS: 26

Shwachman-Diamond Syndrome 2 (SDS2)

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Shwachman-Diamond Syndrome 2

MalaCards integrated aliases for Shwachman-Diamond Syndrome 2:

Name: Shwachman-Diamond Syndrome 2 57 72 29 6
Sds2 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
without pancreatic enzyme replacement therapy, patients die in infancy


HPO:

31
shwachman-diamond syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Shwachman-Diamond Syndrome 2

UniProtKB/Swiss-Prot : 72 Shwachman-Diamond syndrome 2: A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS2 inheritance is autosomal recessive.

MalaCards based summary : Shwachman-Diamond Syndrome 2, is also known as sds2. An important gene associated with Shwachman-Diamond Syndrome 2 is EFL1 (Elongation Factor Like GTPase 1). Affiliated tissues include bone marrow, pancreas and bone, and related phenotypes are microcephaly and laryngomalacia

OMIM® : 57 Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017). For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (260400). (617941) (Updated 05-Apr-2021)

Related Diseases for Shwachman-Diamond Syndrome 2

Diseases in the Shwachman-Diamond Syndrome 1 family:

Shwachman-Diamond Syndrome 2

Symptoms & Phenotypes for Shwachman-Diamond Syndrome 2

Human phenotypes related to Shwachman-Diamond Syndrome 2:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 laryngomalacia 31 very rare (1%) HP:0001601
3 subglottic stenosis 31 very rare (1%) HP:0001607
4 failure to thrive 31 HP:0001508
5 high palate 31 HP:0000218
6 global developmental delay 31 HP:0001263
7 hepatomegaly 31 HP:0002240
8 short stature 31 HP:0004322
9 low-set ears 31 HP:0000369
10 thrombocytopenia 31 HP:0001873
11 exocrine pancreatic insufficiency 31 HP:0001738
12 neutropenia 31 HP:0001875
13 genu varum 31 HP:0002970
14 steatorrhea 31 HP:0002570
15 prolonged prothrombin time 31 HP:0008151
16 recurrent infections 31 HP:0002719
17 diarrhea 31 HP:0002014
18 high myopia 31 HP:0011003
19 metaphyseal widening 31 HP:0003016
20 normocytic anemia 31 HP:0001897
21 infantile muscular hypotonia 31 HP:0008947
22 metaphyseal irregularity 31 HP:0003025
23 prolonged partial thromboplastin time 31 HP:0003645
24 hyperechogenic pancreas 31 HP:0006276

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Growth Height:
short stature

Abdomen Pancreas:
exocrine pancreatic insufficiency
hyperechogenic pancreas
fatty infiltration of pancreas

Abdomen Gastrointestinal:
steatorrhea
diarrhea

Hematology:
normocytic anemia
prolonged partial thromboplastin time (ptt)
prolonged prothrombin time (pt)
thrombocytopenia, intermittent
neutropenia, persistent or intermittent
more
Skeletal Hands:
short fingers

Head And Neck Head:
microcephaly (in some patients)

Neurologic Central Nervous System:
psychomotor delay

Respiratory Larynx:
laryngomalacia (rare)
subglottic stenosis (rare)
posterior laryngeal cleft (rare)

Immunology:
antibody deficiency (rare)
poor immune memory (rare)

Skeletal Skull:
microcephaly

Head And Neck Ears:
low-set ears

Skeletal Limbs:
genu varum
rhizomelic shortening of limbs
metaphyseal irregularity of long bones
metaphyseal widening of femora

Respiratory Lung:
recurrent infections

Head And Neck Mouth:
high-arched palate

Muscle Soft Tissue:
hypotonia in infancy

Head And Neck Eyes:
severe myopia

Abdomen Liver:
hepatomegaly, mild

Chest Ribs Sternum Clavicles And Scapulae:
metaphyseal widening of ribs
metaphyseal irregularity of ribs
cupping of anterior ribs

Laboratory Abnormalities:
low stool elastase levels
low blood elastase levels
low blood lipase levels
reduced vitamin e levels
reduced vitamin a levels

Clinical features from OMIM®:

617941 (Updated 05-Apr-2021)

Drugs & Therapeutics for Shwachman-Diamond Syndrome 2

Search Clinical Trials , NIH Clinical Center for Shwachman-Diamond Syndrome 2

Genetic Tests for Shwachman-Diamond Syndrome 2

Genetic tests related to Shwachman-Diamond Syndrome 2:

# Genetic test Affiliating Genes
1 Shwachman-Diamond Syndrome 2 29 EFL1

Anatomical Context for Shwachman-Diamond Syndrome 2

MalaCards organs/tissues related to Shwachman-Diamond Syndrome 2:

40
Bone Marrow, Pancreas, Bone

Publications for Shwachman-Diamond Syndrome 2

Articles related to Shwachman-Diamond Syndrome 2:

# Title Authors PMID Year
1
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome. 6 57
28331068 2017
2
Development, Relative Validity and Reproducibility of the Aus-SDS (Australian Short Dietary Screener) in Adults Aged 70 Years and Above. 61
32429271 2020
3
The Monocot-Specific Receptor-like Kinase SDS2 Controls Cell Death and Immunity in Rice. 61
29576481 2018
4
Sds22 participates in Glc7 mediated Rad53 dephosphorylation in MMS-induced DNA damage in Candida albicans. 61
27328280 2016
5
Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia. 61
21071499 2011
6
[Short exercise-rest versus long myocardial perfusion gated SPECT protocols in patients with ischemic cardiomyopathy]. 61
20462668 2010
7
Differential silver-staining sodium dodecyl sulfate-polyacrylamide gel electrophoresis: a nonisotopic method for characterizing gel-separated histone-DNA complexes. 61
9750147 1998
8
Mitotic regulation of protein phosphatases by the fission yeast sds22 protein. 61
15335873 1993

Variations for Shwachman-Diamond Syndrome 2

ClinVar genetic disease variations for Shwachman-Diamond Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EFL1 NM_024580.6(EFL1):c.2645T>A (p.Met882Lys) SNV Pathogenic 522583 rs1316615934 GRCh37: 15:82444150-82444150
GRCh38: 15:82151809-82151809
2 EFL1 NM_024580.6(EFL1):c.1495G>T (p.Glu499Ter) SNV Pathogenic 997658 GRCh37: 15:82512109-82512109
GRCh38: 15:82219768-82219768
3 EFL1 NM_024580.6(EFL1):c.379A>G (p.Thr127Ala) SNV Likely pathogenic 522819 rs1441937959 GRCh37: 15:82532896-82532896
GRCh38: 15:82240555-82240555
4 EFL1 NM_024580.6(EFL1):c.1232T>A (p.Ile411Asn) SNV Uncertain significance 636244 rs775430621 GRCh37: 15:82517566-82517566
GRCh38: 15:82225225-82225225
5 EFL1 NM_024580.6(EFL1):c.1971C>G (p.His657Gln) SNV Uncertain significance 636245 rs779232326 GRCh37: 15:82450113-82450113
GRCh38: 15:82157772-82157772
6 EFL1 NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) SNV Uncertain significance 522584 rs376095522 GRCh37: 15:82422793-82422793
GRCh38: 15:82130452-82130452
7 EFL1 NM_024580.6(EFL1):c.2866C>A (p.Pro956Thr) SNV Uncertain significance 1028316 GRCh37: 15:82443929-82443929
GRCh38: 15:82151588-82151588
8 EFL1 NM_024580.6(EFL1):c.1492G>A (p.Glu498Lys) SNV Uncertain significance 1031379 GRCh37: 15:82512112-82512112
GRCh38: 15:82219771-82219771
9 EFL1 NM_024580.6(EFL1):c.2224A>G (p.Ile742Val) SNV Uncertain significance 1031380 GRCh37: 15:82444571-82444571
GRCh38: 15:82152230-82152230

Expression for Shwachman-Diamond Syndrome 2

Search GEO for disease gene expression data for Shwachman-Diamond Syndrome 2.

Pathways for Shwachman-Diamond Syndrome 2

GO Terms for Shwachman-Diamond Syndrome 2

Sources for Shwachman-Diamond Syndrome 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....