Aliases & Classifications for Mass Syndrome

MalaCards integrated aliases for Mass Syndrome:

Name: Mass Syndrome 53 72 49 71 28 13
Overlap Connective Tissue Disease 53 49 71 69
Mass Phenotype 53 49 36 51
Octd 53 49 71
Overlap Connective Tissue Disease; Octd 53

Characteristics:

HPO:

31
mass syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 604308
MedGen 39 C1858556
KEGG 36 H00661
UMLS 69 C1858556

Summaries for Mass Syndrome

NIH Rare Diseases : 49 MASS (mitral valve prolapse, aortic enlargement, skin and skeletal findings) syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissueis the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individual’s symptoms. Last updated: 11/30/2011

MalaCards based summary : Mass Syndrome, also known as overlap connective tissue disease, is related to nontuberculous mycobacterial lung disease and tic disorder, and has symptoms including abnormality of the sternum, striae distensae and disproportionate tall stature. An important gene associated with Mass Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Signaling by Wnt and Wnt Signaling Pathway and Pluripotency. Affiliated tissues include skin and bone, and related phenotypes are growth/size/body region and endocrine/exocrine gland

UniProtKB/Swiss-Prot : 71 Overlap connective tissue disease: Heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.

Wikipedia : 72 MASS syndrome is a medical disorder similar to Marfan syndrome. MASS stands for: Mitral valve prolapse,... more...

Description from OMIM: 604308

Related Diseases for Mass Syndrome

Diseases related to Mass Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 nontuberculous mycobacterial lung disease 10.0 FBN1 LEP
2 tic disorder 10.0
3 connective tissue disease 9.9
4 idiopathic scoliosis 9.9 FBN1 LEP
5 pulmonary fibrosis 9.7
6 craniodiaphyseal dysplasia 9.7 LRP5 SOST
7 van buchem disease 9.7 LRP5 SOST
8 sclerosteosis 9.6 LRP5 SOST
9 bone resorption disease 9.6 LRP5 SOST
10 bone remodeling disease 9.6 LRP5 SOST
11 lipodystrophy 9.6 FBN1 LEP
12 hyperostosis 9.5 LRP5 SOST
13 mediastinitis 9.4
14 craniosynostosis 9.3
15 fibrous dysplasia 9.3
16 giant cell reparative granuloma 9.3
17 axonal neuropathy 9.3
18 hemophilia 9.3
19 headache 9.3
20 osteoporosis 9.0 LEP LRP5 SOST

Graphical network of the top 20 diseases related to Mass Syndrome:



Diseases related to Mass Syndrome

Symptoms & Phenotypes for Mass Syndrome

Clinical features from OMIM:

604308

Human phenotypes related to Mass Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the sternum 31 HP:0000766
2 striae distensae 31 HP:0001065
3 disproportionate tall stature 31 HP:0001519
4 mitral valve prolapse 31 HP:0001634
5 aortic aneurysm 31 HP:0004942

MGI Mouse Phenotypes related to Mass Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.65 FBN1 LEP LRP5 SOST WNT11
2 endocrine/exocrine gland MP:0005379 9.62 FBN1 LEP LRP5 WNT11
3 limbs/digits/tail MP:0005371 9.46 FBN1 LEP LRP5 SOST
4 pigmentation MP:0001186 9.13 FBN1 LEP LRP5
5 skeleton MP:0005390 8.92 FBN1 LEP LRP5 SOST

Drugs & Therapeutics for Mass Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Preterm Body Composition at Discharge on 2 Years Neurological Development (ASQ Evaluation) Unknown status NCT01450436
2 Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5 Completed NCT01199094

Search NIH Clinical Center for Mass Syndrome

Genetic Tests for Mass Syndrome

Genetic tests related to Mass Syndrome:

# Genetic test Affiliating Genes
1 Mass Syndrome 28 FBN1

Anatomical Context for Mass Syndrome

MalaCards organs/tissues related to Mass Syndrome:

38
Skin, Bone

Publications for Mass Syndrome

Articles related to Mass Syndrome:

# Title Authors Year
1
Anesthetic evaluation and perioperative management in a patient with new onset mediastinal mass syndrome presenting for emergency surgery. ( 22606395 )
2011
2
Mediastinal mass syndrome. ( 15829000 )
2005
3
AAEM case report 33: costoclavicular mass syndrome. American Association of Electrodiagnostic Medicine. ( 10086905 )
1999
4
New-onset headache in an adolescent with MASS syndrome. ( 10522336 )
1999
5
Iliac fossa mass syndrome in hemophilia. ( 5467217 )
1970

Variations for Mass Syndrome

ClinVar genetic disease variations for Mass Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.5134_5137dup (p.Asn1713Ilefs) duplication Pathogenic rs1131692049 GRCh38 Chromosome 15, 48463169: 48463172
2 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
3 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
4 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
5 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
6 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
7 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949

Expression for Mass Syndrome

Search GEO for disease gene expression data for Mass Syndrome.

Pathways for Mass Syndrome

GO Terms for Mass Syndrome

Cellular components related to Mass Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.46 FBN1 LEP SOST WNT11
2 extracellular space GO:0005615 9.26 FBN1 LEP SOST WNT11
3 proteinaceous extracellular matrix GO:0005578 8.8 FBN1 SOST WNT11

Biological processes related to Mass Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.65 LRP5 SOST WNT11
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.51 SOST WNT11
3 kidney development GO:0001822 9.49 FBN1 WNT11
4 cholesterol metabolic process GO:0008203 9.46 LEP LRP5
5 canonical Wnt signaling pathway GO:0060070 9.43 LRP5 WNT11
6 cellular response to retinoic acid GO:0071300 9.4 LEP WNT11
7 regulation of blood pressure GO:0008217 9.37 LEP LRP5
8 Wnt signaling pathway GO:0016055 9.33 LRP5 SOST WNT11
9 response to nutrient levels GO:0031667 9.32 LEP WNT11
10 adipose tissue development GO:0060612 9.26 LEP LRP5
11 negative regulation of cartilage development GO:0061037 8.96 LEP WNT11
12 regulation of bone remodeling GO:0046850 8.62 LEP LRP5

Molecular functions related to Mass Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.96 FBN1 SOST
2 hormone activity GO:0005179 8.62 FBN1 LEP

Sources for Mass Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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