SGMRT2
MCID: SNG012
MIFTS: 22

Singleton-Merten Syndrome 2 (SGMRT2)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Oral diseases, Rare diseases

Aliases & Classifications for Singleton-Merten Syndrome 2

MalaCards integrated aliases for Singleton-Merten Syndrome 2:

Name: Singleton-Merten Syndrome 2 56 73 29 6
Sgmrt2 56 73
Singleton-Merten Syndrome, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable expression of features


HPO:

31
singleton-merten syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 616298
OMIM Phenotypic Series 56 PS182250

Summaries for Singleton-Merten Syndrome 2

UniProtKB/Swiss-Prot : 73 Singleton-Merten syndrome 2: A form of Singleton-Merten syndrome, an autosomal dominant disorder characterized by marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. SGMRT2 is an atypical form characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies.

MalaCards based summary : Singleton-Merten Syndrome 2, is also known as sgmrt2. An important gene associated with Singleton-Merten Syndrome 2 is DDX58 (DExD/H-Box Helicase 58). Affiliated tissues include smooth muscle and bone, and related phenotypes are short stature and aortic valve stenosis

OMIM : 56 Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (182250). (616298)

Related Diseases for Singleton-Merten Syndrome 2

Diseases in the Singleton-Merten Syndrome family:

Singleton-Merten Syndrome 1 Singleton-Merten Syndrome 2

Symptoms & Phenotypes for Singleton-Merten Syndrome 2

Human phenotypes related to Singleton-Merten Syndrome 2:

31
# Description HPO Frequency HPO Source Accession
1 short stature 31 occasional (7.5%) HP:0004322
2 aortic valve stenosis 31 occasional (7.5%) HP:0001650
3 hyperkeratosis 31 HP:0000962
4 glaucoma 31 HP:0000501

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin Histology:
hyperkeratosis
papillomatosis
psoriasiform hyperplasia

Skin Nails Hair Skin:
psoriasiform rash

Head And Neck Teeth:
normal dentition

Cardiovascular Vascular:
calcification of aorta (in some patients)
calcification of coronary arteries (in some patients)

Skeletal Feet:
distal acroosteolysis

Head And Neck Eyes:
glaucoma
blindness secondary to glaucoma

Growth Height:
short stature (rare)

Cardiovascular Heart:
calcification of aortic valve (in some patients)
aortic valve stenosis (in some patients)

Skeletal Hands:
phalangeal osteoarthropathy
metacarpophalangeal contractures
distal acroosteolysis

Muscle Soft Tissue:
calcific tendonitis

Clinical features from OMIM:

616298

Drugs & Therapeutics for Singleton-Merten Syndrome 2

Search Clinical Trials , NIH Clinical Center for Singleton-Merten Syndrome 2

Genetic Tests for Singleton-Merten Syndrome 2

Genetic tests related to Singleton-Merten Syndrome 2:

# Genetic test Affiliating Genes
1 Singleton-Merten Syndrome 2 29 DDX58

Anatomical Context for Singleton-Merten Syndrome 2

MalaCards organs/tissues related to Singleton-Merten Syndrome 2:

40
Smooth Muscle, Bone

Publications for Singleton-Merten Syndrome 2

Articles related to Singleton-Merten Syndrome 2:

# Title Authors PMID Year
1
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome. 56 6
25620203 2015
2
A GTPase-activating protein-binding protein (G3BP1)/antiviral protein relay conveys arteriosclerotic Wnt signals in aortic smooth muscle cells. 61
29626090 2018

Variations for Singleton-Merten Syndrome 2

ClinVar genetic disease variations for Singleton-Merten Syndrome 2:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DDX58 NM_014314.4(DDX58):c.1118A>C (p.Glu373Ala)SNV Pathogenic 189344 rs786204847 9:32488037-32488037 9:32488039-32488039
2 DDX58 NM_014314.4(DDX58):c.803G>T (p.Cys268Phe)SNV Pathogenic 189345 rs786204848 9:32488882-32488882 9:32488884-32488884
3 DDX58 NM_014314.4(DDX58):c.1529A>T (p.Glu510Val)SNV Likely pathogenic 802476 9:32481447-32481447 9:32481449-32481449

UniProtKB/Swiss-Prot genetic disease variations for Singleton-Merten Syndrome 2:

73
# Symbol AA change Variation ID SNP ID
1 DDX58 p.Cys268Phe VAR_073667 rs786204848
2 DDX58 p.Glu373Ala VAR_073668 rs786204847

Expression for Singleton-Merten Syndrome 2

Search GEO for disease gene expression data for Singleton-Merten Syndrome 2.

Pathways for Singleton-Merten Syndrome 2

GO Terms for Singleton-Merten Syndrome 2

Sources for Singleton-Merten Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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