SDS2
MCID: SHW007
MIFTS: 23

Shwachman-Diamond Syndrome 2 (SDS2)

Categories: Blood diseases, Bone 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 58 76 30 6
Sds2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



Summaries for Shwachman-Diamond Syndrome 2

UniProtKB/Swiss-Prot : 76 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, bone marrow and pancreas, and related phenotypes are laryngomalacia and subglottic stenosis

OMIM : 58 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)

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:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 laryngomalacia 33 very rare (1%) HP:0001601
2 subglottic stenosis 33 very rare (1%) HP:0001607
3 thrombocytopenia 33 HP:0001873
4 exocrine pancreatic insufficiency 33 HP:0001738
5 genu varum 33 HP:0002970
6 diarrhea 33 HP:0002014
7 neutropenia 33 HP:0001875
8 prolonged partial thromboplastin time 33 HP:0003645
9 prolonged prothrombin time 33 HP:0008151
10 normocytic anemia 33 HP:0001897
11 steatorrhea 33 HP:0002570
12 metaphyseal widening 33 HP:0003016
13 metaphyseal irregularity 33 HP:0003025
14 hyperechogenic pancreas 33 HP:0006276

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Skeletal Skull:
microcephaly

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

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

Hematology:
normocytic anemia
prolonged partial thromboplastin time (ptt)
prolonged prothrombin time (pt)
thrombocytopenia, intermittent
neutropenia, persistent or intermittent
more
Head And Neck Mouth:
high-arched palate

Muscle Soft Tissue:
hypotonia in infancy

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)

Growth Other:
failure to thrive

Growth Height:
short stature

Respiratory Lung:
recurrent infections

Abdomen Gastrointestinal:
diarrhea
steatorrhea

Head And Neck Eyes:
severe myopia

Skeletal Hands:
short fingers

Head And Neck Head:
microcephaly (in some patients)

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

Drugs & Therapeutics for Shwachman-Diamond Syndrome 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Haemodiafiltration vs Conventional Haemodialysis in Children Active, not recruiting NCT02063776

Search 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 30 EFL1

Anatomical Context for Shwachman-Diamond Syndrome 2

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

42
Bone, Bone Marrow, Pancreas

Publications for Shwachman-Diamond Syndrome 2

Articles related to Shwachman-Diamond Syndrome 2:

# Title Authors Year
1
The Monocot-Specific Receptor-like Kinase SDS2 Controls Cell Death and Immunity in Rice. ( 29576481 )
2018
2
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome. ( 28331068 )
2017

Variations for Shwachman-Diamond Syndrome 2

ClinVar genetic disease variations for Shwachman-Diamond Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EFL1 NM_024580.5(EFL1): c.2645T> A (p.Met882Lys) single nucleotide variant Pathogenic rs1316615934 GRCh38 Chromosome 15, 82151809: 82151809
2 EFL1 NM_024580.5(EFL1): c.2645T> A (p.Met882Lys) single nucleotide variant Pathogenic rs1316615934 GRCh37 Chromosome 15, 82444150: 82444150
3 EFL1 NM_024580.6(EFL1): c.3284G> A (p.Arg1095Gln) single nucleotide variant Uncertain significance rs376095522 GRCh37 Chromosome 15, 82422793: 82422793
4 EFL1 NM_024580.6(EFL1): c.3284G> A (p.Arg1095Gln) single nucleotide variant Uncertain significance rs376095522 GRCh38 Chromosome 15, 82130452: 82130452

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

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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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