MCID: SNG012
MIFTS: 18

Singleton-Merten Syndrome 2

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

Aliases & Classifications for Singleton-Merten Syndrome 2

MalaCards integrated aliases for Singleton-Merten Syndrome 2:

Name: Singleton-Merten Syndrome 2 57 75 29 6
Sgmrt2 57 75
Singleton-Merten Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable expression of features


HPO:

32
singleton-merten syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Singleton-Merten Syndrome 2

UniProtKB/Swiss-Prot : 75 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 extend 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 hyperkeratosis

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature (rare)

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

Skin Nails Hair Skin Histology:
papillomatosis
hyperkeratosis
psoriasiform hyperplasia

Head And Neck Eyes:
glaucoma
blindness secondary to glaucoma

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

Skeletal Hands:
phalangeal osteoarthropathy
metacarpophalangeal contractures
distal acroosteolysis

Skin Nails Hair Skin:
psoriasiform rash

Muscle Soft Tissue:
calcific tendonitis


Clinical features from OMIM:

616298

Human phenotypes related to Singleton-Merten Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 short stature 32 occasional (7.5%) HP:0004322
2 hyperkeratosis 32 HP:0000962
3 glaucoma 32 HP:0000501
4 aortic valve stenosis 32 occasional (7.5%) HP:0001650

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

Publications for Singleton-Merten Syndrome 2

Variations for Singleton-Merten Syndrome 2

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

75
# 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 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
Content
Loading form....