Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities

Description

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

Genes related to Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities

ANTXR1

Clinical Features

Top most frequent phenotypes and symptoms related to Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities

Intellectual disability
Short stature
Hearing impairment
Hypertelorism
Growth delay
Nystagmus
Micrognathia
Low-set ears
Depressed nasal bridge
Visual impairment

And another 61 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Vascular Malformations NGS Multi-Gene Panel (21 Genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK, PIK3CA, GNAQ, KDR, MAP3K3, DOCK6 , (...) View the complete list with 1 more genes Panel GTR000529123 complete gene list PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK, PIK3CA, GNAQ, KDR, MAP3K3, DOCK6, ANTXR1 Specificity 5 % Genes 100 %
GAPO syndrome (sequence analysis of ANTXR1 gene). By CGC Genetics in Portugal. ANTXR1 Specificity 100 % Genes 100 %
GAPO Syndrome via the ANTXR1 Gene. By PreventionGenetics PreventionGenetics in United States. ANTXR1 Specificity 100 % Genes 100 %
Hemangioma capillary infantile. By Centogene AG - the Rare Disease Company in Germany. ANTXR1 Specificity 100 % Genes 100 %
Hemangioma capillary infantile. By Centogene AG - the Rare Disease Company in Germany. ANTXR1 Specificity 100 % Genes 100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel. By CeGaT GmbH in Germany. BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...) View the complete list with 35 more genes Panel GTR000522393 complete gene list BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2, NFKBIA, PKP1, KRT14, CDSN, EDA, UBR1, PIGL, KRT86, KRT81, KRT83, MPLKIP, EDAR, GTF2H5, ST14, WNT10A, DSG4, EDARADD, TRPS1, ANTXR1, HR, TWIST2, DLX3, LPAR6, KRT74, MSX1, KCTD1, HOXC13, KRT85, SNRPE, APCDD1, LIPH, BANF1, NECTIN1, NECTIN4, CYP26C1 Specificity 2 % Genes 100 %
ANTXR1. By Fulgent Genetics Fulgent Genetics in United States. ANTXR1 Specificity 100 % Genes 100 %
Neuro-Ophthalmology Panel. By Blueprint Genetics in Finland. TWNK, C12orf65, PAX6, TUBB3, GPR143, OPA1, WFS1, OTX2, POLG, SLC25A4, RRM2B, MFN2, OPA3, ACO2, TMEM126A, TK2, SPG7, CISD2, TYMP, PHOX2A , (...) View the complete list with 18 more genes Panel GTR000552817 complete gene list TWNK, C12orf65, PAX6, TUBB3, GPR143, OPA1, WFS1, OTX2, POLG, SLC25A4, RRM2B, MFN2, OPA3, ACO2, TMEM126A, TK2, SPG7, CISD2, TYMP, PHOX2A, FRMD7, TIMM8A, NDUFS1, APTX, SOX2, HESX1, KIF21A, SETX, NR2F1, PRPS1, SALL4, SLC25A46, RTN4IP1, ANTXR1, ROBO3, CHN1, SLC38A8, FDXR Specificity 3 % Genes 100 %
GAPO SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. ANTXR1 Specificity 100 % Genes 100 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...) View the complete list with 123 more genes Panel GTR000560391 complete gene list BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, KIF1B, SDHC, FH, FAH, SDHB, NDUFA13, RNASEL, TMEM127, MEN1, SDHA, FANCC, BLM, TINF2, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, SBDS, CEBPA, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, RTEL1, WAS, NTRK1, NF1, CYP21A2, ERCC2, ERCC3, FANCB, DKC1, ATR, ANTXR2, TGFBR1, GLI3, MITF, LYST, TERT, ERCC6, SMARCA4, SMARCB1, GLMN, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, BAP1, CDKN1B, ERCC4, PIK3CA, POLD1, PDGFRA, POLE, AXIN2, AKT1, EXT2, EXT1, LIG4, AIP, KLHDC8B, ESCO2, RSPO1, CD96, WRN, DICER1, ERCC5, XPA, BUB1B, GALNT12, CYLD, KDR, RHBDF2, ANTXR1, XPC, PDE11A, TMC6, TMC8, UROD, POLH, MTAP, DIS3L2, DDB2, MLH3, PALLD, PTCH2, XRCC3, MSR1, ASCC1, MSMB, EPHB2, POU6F2, EHBP1, RAD51B Specificity 1 % Genes 100 %

Alternate names

Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities Is also known as odontotrichomelic syndrome;growth delay-alopecia-pseudoanodontia-optic atrophy syndrome.

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