Adams-oliver Syndrome 6; Aos6

Table of contents:

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

Description

Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Genes related to Adams-oliver Syndrome 6; Aos6

DLL4

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Adams-oliver Syndrome 6; Aos6

Hypertension
Brachydactyly
Ventricular septal defect
Syndactyly
Abnormal heart morphology
Abnormal cardiac septum morphology
Renal hypoplasia
Hepatic fibrosis
Portal hypertension
Tricuspid regurgitation

And another 10 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Adams-oliver Syndrome 6; Aos6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, TAF1, TAF6, MED12, HDAC8, CTCF, SRCAP, AFF4, ARID1B, PHF6, DOCK6, CHD7, WDR26, ANKRD11, CREBBP , (...) View the complete list with 11 more genes Panel complete gene list SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, TAF1, TAF6, MED12, HDAC8, CTCF, SRCAP, AFF4, ARID1B, PHF6, DOCK6, CHD7, WDR26, ANKRD11, CREBBP, SMC3, ESCO2, EOGT, NIPBL, KDM1A, DLL4, ARHGAP31, EP300, RBPJ, NOTCH1, RAD21 Specificity 4 % Genes 100 %
Adams-Oliver syndrome Deletion/ Duplication panel. By Connective Tissue Gene Tests (United States). DOCK6, EOGT, DLL4, ARHGAP31, RBPJ, NOTCH1 Specificity 17 % Genes 100 %
Adams-Oliver syndrome NGS panel. By Connective Tissue Gene Tests (United States). DOCK6, EOGT, DLL4, ARHGAP31, RBPJ, NOTCH1 Specificity 17 % Genes 100 %
Adams-Oliver syndrome Comprehensive panel. By Connective Tissue Gene Tests (United States). DOCK6, EOGT, DLL4, ARHGAP31, RBPJ, NOTCH1 Specificity 17 % Genes 100 %
Mental Retardation and Dysmorphology - panels. By MGZ Medical Genetics Center (Germany). RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...) View the complete list with 322 more genes Panel complete gene list RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SOS1, SOS2, SOX10, SOX3, CDKL5, SYN1, SYNGAP1, SYP, TBX3, TBX5, TCF4, TCOF1, TFAP2A, TIMM8A, TSPAN7, MED12, TRPS1, TSC1, TSC2, TWIST1, UBE2A, UBE3A, KDM6A, WNT5A, KAT6A, ZMYM3, ZNF41, ZNF711, ZNF81, ACTB, BCL11A, LMBR1, FTSJ1, HDAC8, MCOLN1, NSDHL, DCHS1, CTCF, CNTNAP2, FOXP2, CACNG2, NSD1, RAB23, PCDH19, NLGN4X, NLGN3, ACTG1, NPC2, ARHGEF9, ZEB2, ALX1, CASK, SNX14, CBL, SHOC2, MBTPS2, CBS, SETBP1, CCND2, SALL4, TP63, RAB39B, UBR1, SRCAP, MLC1, WAC, BRWD3, CDH15, ZNF674, PORCN, CDKN1C, ARID1B, ARX, PHF6, ATP6AP2, SETD2, ZDHHC9, NAA10, THOC2, DOCK6, CHRNA7, CHD8, POLR1C, CLCN4, SPRED1, ZDHHC15, SUMF1, POLR1D, UPF3B, MBD5, CHD7, CLIC2, PHF8, BCOR, CUL7, TBC1D7, RNF135, ANKRD11, VPS13B, MED13L, PEX26, GNPTG, FAT4, A2ML1, CREBBP, MED23, TCTN3, C2CD3, KANSL1, EHMT1, SMC3, CTNNB1, CCDC8, RAB40AL, CUL4B, OFD1, LAS1L, CPLANE1, NFATC2IP, NSUN2, CTC1, HEPACAM, PTCHD1, HGSNAT, DCX, DDX3X, CCNQ, EOGT, DHCR7, DIS3L2, DHODH, NIPBL, MAGT1, DKC1, CCDC22, WDR45, WASHC5, DLG3, SPECC1L, IQSEC2, OBSL1, DLL4, SHROOM4, ARHGAP31, DMD, EPG5, NEXMIF, GPSM2, C12orf57, GNPTAB, DNMT3A, PACS1, STRADA, CRBN, CC2D1A, KIF7, TXNL4A, SRPX2, GATAD2B, TRAPPC9, DVL1, EFTUD2, HUWE1, DYRK1A, EDN3, EDNRA, EDNRB, AGL, EFNB1, EIF2B5, EIF2S3, EMD, EP300, EPB41L1, AGTR2, ERCC6, ERCC8, EZH2, ACSL4, FANCB, FGD1, FGFR1, FGFR2, FGFR3, FHL1, FLNA, FLNB, FMR1, AFF2, FOXG1, FOXP1, AKT1, AKT3, FUCA1, G6PC, SLC37A4, GAA, GALNS, GBA, GBE1, GDI1, GFAP, GK, GLB1, GLI3, GNAQ, GNAS, GNS, GPC3, ALX3, ALX4, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GUSB, HSD17B10, HCCS, HCFC1, HERC2, HEXA, HEXB, ANK3, HOXD13, HPRT1, HRAS, IDH1, IDH2, IDS, IDUA, IGBP1, AP1S2, ABCC6, RBPJ, IKBKG, IL1RAPL1, ABCC9, INSR, IRF6, JAG1, KCNJ10, KLF8, KPTN, KRAS, L1CAM, LAMP2, LRP5, LZTR1, MAGEL2, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MECP2, MEF2C, MID1, MITF, KMT2D, MTM1, TRIM37, ASPA, MYH7, NAGLU, NDP, NDUFA1, NF1, NFIX, NHS, NOG, NOTCH2, NPC1, NRAS, NRXN1, NXF5, OCRL, OPHN1, OTC, PAK3, PAX3, ATP7A, AIFM1, PDHA1, PEX1, PEX10, PEX12, PEX6, ATRX, KIF1A, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PIK3CA, PIK3R2, PITX1, PLP1, PLXND1, POR, PQBP1, PRPS1, PTCH1, PTEN, PTPN11, PEX2, PYGL, PYGM, RAD21, RAF1, RAI1, RASA1, RASA2, RBM10, RECQL4, REV3L Specificity 1 % Genes 100 %
Syndromal Diseases - panels. By MGZ Medical Genetics Center (Germany). RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...) View the complete list with 321 more genes Panel complete gene list RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SOS1, SOS2, SOX10, SOX3, CDKL5, SYN1, SYNGAP1, SYP, TBX3, TBX5, TCF4, TCOF1, TFAP2A, TIMM8A, TSPAN7, MED12, TRPS1, TSC1, TSC2, TWIST1, UBE2A, UBE3A, KDM6A, WNT5A, KAT6A, ZMYM3, ZNF41, ZNF711, ZNF81, ACTB, BCL11A, LMBR1, FTSJ1, HDAC8, MCOLN1, NSDHL, DCHS1, CTCF, CNTNAP2, FOXP2, CACNG2, NSD1, RAB23, PCDH19, NLGN4X, NLGN3, ACTG1, NPC2, ARHGEF9, ZEB2, ALX1, CASK, SNX14, CBL, SHOC2, MBTPS2, CBS, SETBP1, CCND2, SALL4, TP63, RAB39B, UBR1, SRCAP, MLC1, WAC, BRWD3, CDH15, ZNF674, PORCN, CDKN1C, ARID1B, ARX, PHF6, ATP6AP2, SETD2, ZDHHC9, NAA10, THOC2, DOCK6, CHRNA7, CHD8, POLR1C, CLCN4, SPRED1, ZDHHC15, SUMF1, POLR1D, UPF3B, MBD5, CHD7, CLIC2, PHF8, BCOR, CUL7, TBC1D7, RNF135, ANKRD11, VPS13B, MED13L, PEX26, GNPTG, FAT4, A2ML1, CREBBP, MED23, TCTN3, C2CD3, KANSL1, EHMT1, SMC3, CTNNB1, CCDC8, RAB40AL, CUL4B, OFD1, LAS1L, CPLANE1, NFATC2IP, NSUN2, HEPACAM, PTCHD1, HGSNAT, DCX, DDX3X, CCNQ, EOGT, DHCR7, DIS3L2, DHODH, NIPBL, MAGT1, DKC1, CCDC22, WDR45, WASHC5, DLG3, SPECC1L, IQSEC2, OBSL1, DLL4, SHROOM4, ARHGAP31, DMD, EPG5, NEXMIF, GPSM2, C12orf57, GNPTAB, DNMT3A, PACS1, STRADA, CRBN, CC2D1A, KIF7, TXNL4A, SRPX2, GATAD2B, TRAPPC9, DVL1, EFTUD2, HUWE1, DYRK1A, EDN3, EDNRA, EDNRB, AGL, EFNB1, EIF2B5, EIF2S3, EMD, EP300, EPB41L1, AGTR2, ERCC6, ERCC8, EZH2, ACSL4, FANCB, FGD1, FGFR1, FGFR2, FGFR3, FHL1, FLNA, FLNB, FMR1, AFF2, FOXG1, FOXP1, AKT1, AKT3, FUCA1, G6PC, SLC37A4, GAA, GALNS, GBA, GBE1, GDI1, GFAP, GK, GLB1, GLI3, GNAQ, GNAS, GNS, GPC3, ALX3, ALX4, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GUSB, HSD17B10, HCCS, HCFC1, HERC2, HEXA, HEXB, ANK3, HOXD13, HPRT1, HRAS, IDH1, IDH2, IDS, IDUA, IGBP1, AP1S2, ABCC6, RBPJ, IKBKG, IL1RAPL1, ABCC9, INSR, IRF6, JAG1, KCNJ10, KLF8, KPTN, KRAS, L1CAM, LAMP2, LRP5, LZTR1, MAGEL2, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MECP2, MEF2C, MID1, MITF, KMT2D, MTM1, TRIM37, ASPA, MYH7, NAGLU, NDP, NDUFA1, NF1, NFIX, NHS, NOG, NOTCH2, NPC1, NRAS, NRXN1, NXF5, OCRL, OPHN1, OTC, PAK3, PAX3, ATP7A, AIFM1, PDHA1, PEX1, PEX10, PEX12, PEX6, ATRX, KIF1A, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PIK3CA, PIK3R2, PITX1, PLP1, PLXND1, POR, PQBP1, PRPS1, PTCH1, PTEN, PTPN11, PEX2, PYGL, PYGM, RAD21, RAF1, RAI1, RASA1, RASA2, RBM10, RECQL4, REV3L Specificity 1 % Genes 100 %
Adams-Oliver syndrome type 6. By Centogene AG - the Rare Disease Company (Germany). DLL4 Specificity 100 % Genes 100 %
DLL4. By Fulgent Genetics Fulgent Genetics (United States). DLL4 Specificity 100 % Genes 100 %

You can get up to 7 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1 DIAMOND-BLACKFAN ANEMIA 10; DBA10 HYPERTELORISM, TEEBI TYPE LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE; OCLSBG