MCID: SHW007
MIFTS: 15

Shwachman-Diamond Syndrome 2

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

Aliases & Classifications for Shwachman-Diamond Syndrome 2

MalaCards integrated aliases for Shwachman-Diamond Syndrome 2:

Name: Shwachman-Diamond Syndrome 2 57 6
Sds2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617941

Summaries for Shwachman-Diamond Syndrome 2

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)

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 pancreas and bone.

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

Symptoms via clinical synopsis from OMIM:

57
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

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

Genetic Tests for Shwachman-Diamond Syndrome 2

Anatomical Context for Shwachman-Diamond Syndrome 2

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

41
Pancreas, Bone

Publications for Shwachman-Diamond Syndrome 2

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 GRCh38 Chromosome 15, 82151809: 82151809
2 EFL1 NM_024580.5(EFL1): c.2645T> A (p.Met882Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 82444150: 82444150
3 EFL1 NM_024580.5(EFL1): c.3284G> A (p.Arg1095Gln) single nucleotide variant Pathogenic rs376095522 GRCh37 Chromosome 15, 82422793: 82422793
4 EFL1 NM_024580.5(EFL1): c.3284G> A (p.Arg1095Gln) single nucleotide variant Pathogenic 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

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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