Singleton-Merten Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases Muscle diseases Oral diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 616298

MeSH ⁴⁵ D001018 D010024 D030981

MedGen ⁴³ C4225380 CN229494

SNOMED-CT via HPO ⁷⁰ 237836003 23986001 263681008 more

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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)

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Related Diseases for Singleton-Merten Syndrome 2

Diseases in the Singleton-Merten Syndrome family:

Singleton-Merten Syndrome 1

Singleton-Merten Syndrome 2

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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

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Drugs & Therapeutics for Singleton-Merten Syndrome 2

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

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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

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Anatomical Context for Singleton-Merten Syndrome 2

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Publications for Singleton-Merten Syndrome 2

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Genes for Singleton-Merten Syndrome 2

Genes related to Singleton-Merten Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DDX58	DExD/H-Box Helicase 58	Protein Coding	1328.32	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	25620203

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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

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Expression for Singleton-Merten Syndrome 2

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

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Pathways for Singleton-Merten Syndrome 2

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GO Terms for Singleton-Merten Syndrome 2

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Singleton-Merten Syndrome 2 (SGMRT2)

Aliases & Classifications for Singleton-Merten Syndrome 2

MalaCards integrated aliases for Singleton-Merten Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Singleton-Merten Syndrome 2

Related Diseases for Singleton-Merten Syndrome 2

Diseases in the Singleton-Merten Syndrome family:

Symptoms & Phenotypes for Singleton-Merten Syndrome 2

Human phenotypes related to Singleton-Merten Syndrome 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Singleton-Merten Syndrome 2

Genetic Tests for Singleton-Merten Syndrome 2

Genetic tests related to Singleton-Merten Syndrome 2:

Anatomical Context for Singleton-Merten Syndrome 2

Publications for Singleton-Merten Syndrome 2

Genes for Singleton-Merten Syndrome 2

Genes related to Singleton-Merten Syndrome 2 (1 elite genes):

Variations for Singleton-Merten Syndrome 2

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

ClinVar genetic disease variations for Singleton-Merten Syndrome 2:

Expression for Singleton-Merten Syndrome 2

Pathways for Singleton-Merten Syndrome 2

GO Terms for Singleton-Merten Syndrome 2

Sources for Singleton-Merten Syndrome 2