Singleton-merten Syndrome 2; Sgmrt2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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 (OMIM ).

Genes related to Singleton-merten Syndrome 2; Sgmrt2

DDX58

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Clinical Features

Top most frequent phenotypes and symptoms related to Singleton-merten Syndrome 2; Sgmrt2

Short stature
Generalized hypotonia
Muscle weakness
Abnormal facial shape
Flexion contracture
Abnormality of the skeletal system
Edema
Abnormality of the dentition
Glaucoma
Hyperkeratosis

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Singleton-merten Syndrome 2; Sgmrt2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DDX58. By Institute for Human Genetics University Clinic Freiburg (Germany). DDX58 Specificity 100 % Genes 100 %
Singleton-Merten syndrome 2 (sequence analysis of DDX58 gene). By CGC Genetics (Portugal). DDX58 Specificity 100 % Genes 100 %
Singleton-Merten syndrome 2 (sequence analysis of DDX58 gene). By CGC Genetics (Portugal). DDX58 Specificity 100 % Genes 100 %
DDX58. By Fulgent Genetics Fulgent Genetics (United States). DDX58 Specificity 100 % Genes 100 %
Primary Immunodeficiency Panel. By Blueprint Genetics (Finland). RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...) View the complete list with 253 more genes Panel complete gene list RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1, TCF3, TCN2, TERC, TERT, TFRC, THBD, TINF2, TNFAIP3, TNFRSF1A, TNFRSF4, CD40, FAS, CD27, CD40LG, FASLG, CD70, TREX1, SERPING1, ACP5, C1QA, C1QB, TYK2, C1QC, C1S, C2, UNG, USP18, WAS, WIPF1, WDR1, FOXN1, ZAP70, IKZF1, C3, ACTB, AICDA, BCL11B, TRAF3IP2, SAMD9, UNC93B1, SAMD9L, BACH2, BLNK, MRTFA, NLRP1, NHP2, NOP10, LPIN2, VPS45, CDCA7, CASP10, CASP8, SPINK5, IL36RN, RBCK1, RTEL1, SAMHD1, RNF31, CD19, CARD9, CARD11, NLRP3, NLRC4, CARD14, CD3D, CD3E, CD3G, CD247, CD59, HAX1, HYOU1, CD79A, CD79B, CD81, CD8A, NCSTN, COLEC11, TRNT1, LRBA, DCLRE1B, DCLRE1C, IRAK4, TMC6, TNFRSF13B, IL17RC, CEBPE, ADA2, RNASEH2A, ADA, CFTR, IFIH1, LAT, DDX58, DOCK8, SBDS, ADAM17, LYST, TTC7A, SLC35C1, CLCN7, TMC8, CHD7, ZBTB24, IRF2BP2, VPS13B, COPA, ADAR, CORO1A, NLRP12, SLC29A3, UNC13D, FERMT3, CR2, RNASEH2C, CSF2RA, CSF2RB, CSF3R, G6PC3, MOGS, CTLA4, ACD, OTULIN, CTPS1, CTSC, WRAP53, CXCR4, OFD1, RNASEH2B, NHEJ1, CYBA, CYBB, USB1, ORAI1, CTC1, CD55, RNF168, ERCC6L2, JAGN1, DNAJC21, CARMIL2, CFD, TMEM173, DGKE, MAGT1, DKC1, GINS1, EPG5, DNMT3B, LAMTOR2, DOCK2, PSENEN, SLC46A1, CLPB, ELANE, RNU4ATAC, EXTL3, FADD, AIRE, AK2, ISG15, G6PD, SLC37A4, GATA2, GFI1, TAP1, TAP2, HELLS, CFH, NOD2, ICOS, IRF8, CFI, SP110, IFNAR2, IFNGR1, IFNGR2, AP3B1, IGLL1, XIAP, IKBKB, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL7R, FOXP3, ITGB2, ITK, JAK1, JAK3, KRAS, RPSA, LCK, LIG4, MALT1, MAP3K14, RHOH, MASP1, CD46, MEFV, ARPC1B, CIITA, MRE11, MSN, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF1, NCF2, NCF4, NSMCE3, NFKB1, NFKB2, NFKBIA, PNP, ATM, NRAS, PARN, PEPD, CFP, PGM3, PIGA, PIK3CD, PIK3R1, PLCG2, PMS2, POLE, POLE2, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, BCL10, RECQL4, RFX5, RFXANK, RFXAP Specificity 1 % Genes 100 %
Autoinflammatory Syndrome Panel. By Blueprint Genetics (Finland). TNFAIP3, TNFRSF1A, TREX1, ACP5, NLRP1, LPIN2, IL36RN, SAMHD1, NLRP3, NLRC4, CARD14, TRNT1, RNASEH2A, IFIH1, DDX58, ADAR, NLRP12, SLC29A3, RNASEH2C, OTULIN , (...) View the complete list with 12 more genes Panel complete gene list TNFAIP3, TNFRSF1A, TREX1, ACP5, NLRP1, LPIN2, IL36RN, SAMHD1, NLRP3, NLRC4, CARD14, TRNT1, RNASEH2A, IFIH1, DDX58, ADAR, NLRP12, SLC29A3, RNASEH2C, OTULIN, RNASEH2B, TMEM173, PSENEN, ELANE, ISG15, NOD2, IL1RN, MEFV, MVK, PLCG2, PSMB8, PSTPIP1 Specificity 4 % Genes 100 %
Immune Report Card. By OmniSeq, Inc. (United States). CXCL10, STAT1, TBX21, TGFB1, TNF, TNFRSF14, TNFRSF18, CD40, CD27, TNFRSF9, TNFSF4, CD40LG, CCR2, CD163, CD2, CD28, CXCR6, CD38, CD4, CD68 , (...) View the complete list with 24 more genes Panel complete gene list CXCL10, STAT1, TBX21, TGFB1, TNF, TNFRSF14, TNFRSF18, CD40, CD27, TNFRSF9, TNFSF4, CD40LG, CCR2, CD163, CD2, CD28, CXCR6, CD38, CD4, CD68, CD80, CD86, CD8A, ICOSLG, CD244, HAVCR2, PDCD1LG2, DDX58, BTLA, CSF1R, CTLA4, ADORA2A, VSIR, GZMB, ICOS, IFNG, IL10, IL1B, IDO1, FOXP3, KLRD1, LAG3, MS4A1, MX1 Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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