MCID: SNG014
MIFTS: 31

Singleton-Merten Syndrome

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

Aliases & Classifications for Singleton-Merten Syndrome

MalaCards integrated aliases for Singleton-Merten Syndrome:

Name: Singleton-Merten Syndrome 53 59 37
Singleton-Merten Dysplasia 53 59
Syndrome of Widened Medullary Cavities of the Metacarpals and Phalanges, Aortic Calcification and Abnormal Dentition 53
Widened Medullary Cavities of Bone, Aortic Calcification, Abnormal Dentition, and Muscular Weakness 53
Syndrome, Singleton-Merten 40
Merten-Singleton Syndrome 53
Singleton Merten Syndrome 73
Sm Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
singleton-merten dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

Orphanet 59 ORPHA85191
ICD10 via Orphanet 34 Q78.8
UMLS via Orphanet 74 C0432254
KEGG 37 H01571
UMLS 73 C0432254

Summaries for Singleton-Merten Syndrome

NIH Rare Diseases : 53 Singleton-Merten syndrome is a very rare disease that affect many organs. The main features are tooth abnormalities with gum infection; calcifications in the aorta artery and in certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and weakening of the bones (osteoporosis), especially in the upper and back portions of the skull. Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone (hypotonia); progressive wasting of the muscles (muscle atrophy); heart arrhythmia, growth and developmental delay; skin problems such as psoriasis; malformation of the hips and/or feet and limbs or fingers, joint problems, tendon rupture, distinct facial features, and vision problems due to glaucoma. Severe systemic lupus erythematosus can also occur with Singleton-Merten syndrome.  Singleton-Merten syndrome is caused by mutations in the IFIH1 gene, and in the DDX58  genes (which causes anatypical form of Singleton-Merten syndrome where there are no teeth problems). Inheritance is autosomal dominant, but it may also occur sporadically (in individuals with no history of the condition in their family).  Commonly, people with type I interferonopathies are treated with high doses of intravenous methylprednisolone, oral prednisone and intravenous immunoglobulins during the acute phases with often only partial control of the flares. There are studies trying to find a more effective treatment. The genes  causing Singeleton-Merten syndrome can activate type I interferon (IFN1) responses. Diseases related to INF1 are known as type I interferonopathies. Type I interferonopathies are a group of rheumatic diseases that are frequently severe and have an early-onset.  These  diseases include  Aicardi-Goutières syndrome,  familial chilblain lupus,  spondyloenchondrodysplasia, the proteasome associated autoinflammatory syndromes, IFN-stimulated gene 15 (ISG15) deficiency, Singleton-Merten syndrome, STING-associated vasculopathy with onset in infancy (SAVI).

MalaCards based summary : Singleton-Merten Syndrome, also known as singleton-merten dysplasia, is related to singleton-merten syndrome 1 and singleton-merten syndrome 2. An important gene associated with Singleton-Merten Syndrome is IFIH1 (Interferon Induced With Helicase C Domain 1), and among its related pathways/superpathways are Kaposi's sarcoma-associated herpesvirus infection and NF-kappaB Signaling. Affiliated tissues include bone, skin and heart.

Wikipedia : 76 Singleton Merten Syndrome is an autosomal dominant genetic disorder with variable expression with an... more...

Related Diseases for Singleton-Merten Syndrome

Diseases in the Singleton-Merten Syndrome family:

Singleton-Merten Syndrome 1 Singleton-Merten Syndrome 2

Diseases related to Singleton-Merten Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 singleton-merten syndrome 1 33.8 GCA IFIH1
2 singleton-merten syndrome 2 12.7
3 melanoma 10.2
4 type i 10.2
5 aicardi-goutieres syndrome 7 9.9 GCA IFIH1
6 aicardi-goutieres syndrome 9.8 GCA IFIH1
7 dengue virus 9.5 DDX58 IFIH1
8 west nile virus 9.5 DDX58 IFIH1
9 measles 9.4 DDX58 IFIH1
10 viral infectious disease 9.4 DDX58 IFIH1
11 herpes simplex 9.3 DDX58 IFIH1
12 hepatitis c virus 9.2 DDX58 IFIH1
13 influenza 9.1 DDX58 IFIH1
14 psoriasis 8.9 DDX58 IFIH1

Graphical network of the top 20 diseases related to Singleton-Merten Syndrome:



Diseases related to Singleton-Merten Syndrome

Symptoms & Phenotypes for Singleton-Merten Syndrome

Drugs & Therapeutics for Singleton-Merten Syndrome

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

Genetic Tests for Singleton-Merten Syndrome

Anatomical Context for Singleton-Merten Syndrome

MalaCards organs/tissues related to Singleton-Merten Syndrome:

41
Bone, Skin, Heart

Publications for Singleton-Merten Syndrome

Articles related to Singleton-Merten Syndrome:

(show all 14)
# Title Authors Year
1
R516Q mutation in Melanoma differentiation-associated protein 5 (MDA5) and its pathogenic role towards rare Singleton-Merten syndrome; a signature associated molecular dynamics study. ( 29429386 )
2018
2
MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum. ( 28475458 )
2017
3
Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis. ( 28321341 )
2017
4
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity. ( 28319323 )
2017
5
RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome. ( 28955379 )
2017
6
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. ( 25620204 )
2015
7
Long term clinical outcome of dental implants placed in a patient with Singleton-Merten syndrome. ( 26043888 )
2015
8
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome. ( 25620203 )
2015
9
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-GoutiA"res and Singleton-Merten syndromes. ( 26284909 )
2015
10
Progressive supra-aortic stenosis in a young adult with the findings of Singleton Merten Syndrome. ( 25193816 )
2014
11
Establishment of Singleton-Merten syndrome pulp cells: evidence of mineralization dysregulation. ( 25158182 )
2014
12
Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. ( 23322711 )
2013
13
Singleton-merten syndrome and impaired cardiac function. ( 21070929 )
2010
14
A syndrome of widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness (the Singleton-Merten syndrome). ( 175395 )
1976

Variations for Singleton-Merten Syndrome

Expression for Singleton-Merten Syndrome

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

GO Terms for Singleton-Merten Syndrome

Biological processes related to Singleton-Merten Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein deubiquitination GO:0016579 9.55 DDX58 IFIH1
2 defense response to virus GO:0051607 9.54 DDX58 IFIH1
3 response to virus GO:0009615 9.52 DDX58 IFIH1
4 negative regulation of type I interferon production GO:0032480 9.51 DDX58 IFIH1
5 positive regulation of interferon-beta production GO:0032728 9.49 DDX58 IFIH1
6 positive regulation of interleukin-6 secretion GO:2000778 9.48 DDX58 IFIH1
7 cellular response to exogenous dsRNA GO:0071360 9.46 DDX58 IFIH1
8 positive regulation of interferon-alpha production GO:0032727 9.43 DDX58 IFIH1
9 positive regulation of tumor necrosis factor secretion GO:1904469 9.4 DDX58 IFIH1
10 positive regulation of interferon-alpha secretion GO:1902741 9.37 DDX58 IFIH1
11 positive regulation of response to cytokine stimulus GO:0060760 9.32 DDX58 IFIH1
12 detection of virus GO:0009597 9.26 DDX58 IFIH1
13 positive regulation of interferon-beta secretion GO:0035549 9.16 DDX58 IFIH1
14 regulation of type III interferon production GO:0034344 8.96 DDX58 IFIH1
15 cytoplasmic pattern recognition receptor signaling pathway in response to virus GO:0039528 8.62 DDX58 IFIH1

Molecular functions related to Singleton-Merten Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 9.16 DDX58 IFIH1
2 double-stranded RNA binding GO:0003725 8.96 DDX58 IFIH1
3 single-stranded RNA binding GO:0003727 8.62 DDX58 IFIH1

Sources for Singleton-Merten Syndrome

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11 DGIdb
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32 HPO
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45 MESH via Orphanet
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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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