SGMRT2
MCID: SNG012
MIFTS: 18

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 58 76 30 6
Sgmrt2 58 76
Singleton-Merten Syndrome, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable expression of features


HPO:

33
singleton-merten syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Singleton-Merten Syndrome 2

UniProtKB/Swiss-Prot : 76 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). Related phenotypes are short stature and aortic valve stenosis

OMIM : 58 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:

33
# Description HPO Frequency HPO Source Accession
1 short stature 33 occasional (7.5%) HP:0004322
2 aortic valve stenosis 33 occasional (7.5%) HP:0001650
3 hyperkeratosis 33 HP:0000962
4 glaucoma 33 HP:0000501

Symptoms via clinical synopsis from OMIM:

58
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 30 DDX58

Anatomical Context for Singleton-Merten Syndrome 2

Publications for Singleton-Merten Syndrome 2

Variations for Singleton-Merten Syndrome 2

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

76
# Symbol AA change Variation ID SNP ID
1 DDX58 p.Cys268Phe VAR_073667 rs786204848
2 DDX58 p.Glu373Ala VAR_073668 rs786204847

ClinVar genetic disease variations for Singleton-Merten Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DDX58 NM_014314.3(DDX58): c.1118A> C (p.Glu373Ala) single nucleotide variant Pathogenic rs786204847 GRCh37 Chromosome 9, 32488037: 32488037
2 DDX58 NM_014314.3(DDX58): c.1118A> C (p.Glu373Ala) single nucleotide variant Pathogenic rs786204847 GRCh38 Chromosome 9, 32488039: 32488039
3 DDX58 NM_014314.3(DDX58): c.803G> T (p.Cys268Phe) single nucleotide variant Pathogenic rs786204848 GRCh37 Chromosome 9, 32488882: 32488882
4 DDX58 NM_014314.3(DDX58): c.803G> T (p.Cys268Phe) single nucleotide variant Pathogenic rs786204848 GRCh38 Chromosome 9, 32488884: 32488884

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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