Gapo Syndrome

Table of contents:

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

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 Gapo Syndrome

ANTXR1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Gapo Syndrome

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

And another 65 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.

Alternative names

Gapo Syndrome Is also known as growth delay-alopecia-pseudoanodontia-optic atrophy syndrome, odontotrichomelic syndrome, growth retardation, alopecia, pseudoanodontia, and optic atrophy.

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.

Gapo Syndrome 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 (Netherlands). BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN , (...) View the complete list with 1 more genes Panel complete gene list BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN, RASA1 Specificity 5 % Genes 100 %
GAPO syndrome (sequence analysis of ANTXR1 gene). By CGC Genetics (Portugal). ANTXR1 Specificity 100 % Genes 100 %
GAPO Syndrome via ANTXR1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ANTXR1 Specificity 100 % Genes 100 %
Hemangioma capillary infantile. By Centogene AG - the Rare Disease Company (Germany). ANTXR1 Specificity 100 % Genes 100 %
Hemangioma capillary infantile. By Centogene AG - the Rare Disease Company (Germany). ANTXR1 Specificity 100 % Genes 100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel. By CeGaT GmbH (Germany). BCS1L, SNRPE, SOX18, ST14, TRPS1, IFT122, WNT10A, EDARADD, SHOC2, LPAR6, APCDD1, TP63, MPLKIP, UBR1, BANF1, CDH3, PORCN, CDSN, KCTD1, WDR19 , (...) View the complete list with 35 more genes Panel complete gene list BCS1L, SNRPE, SOX18, ST14, TRPS1, IFT122, WNT10A, EDARADD, SHOC2, LPAR6, APCDD1, TP63, MPLKIP, UBR1, BANF1, CDH3, PORCN, CDSN, KCTD1, WDR19, LIPH, NECTIN4, CYP26C1, TWIST2, ANTXR1, GTF2H5, DSG4, CTSC, OFD1, GRHL2, KRT74, EDAR, DLX3, WDR35, IFT43, DSP, EDA, FGF10, FGFR2, FGFR3, GJA1, GJB6, HOXC13, HR, KRT14, KRT81, KRT83, KRT85, KRT86, MSX1, NFKBIA, PIGL, PKP1, AXIN2, NECTIN1 Specificity 2 % Genes 100 %
ANTXR1. By Fulgent Genetics Fulgent Genetics (United States). ANTXR1 Specificity 100 % Genes 100 %
Neuro-Ophthalmology Panel. By Blueprint Genetics (Finland). SLC25A4, SOX2, SPG7, TWNK, ACO2, TIMM8A, TK2, WFS1, ROBO3, SALL4, APTX, MFN2, RRM2B, RTN4IP1, KIF21A, CHN1, GPR143, TUBB3, ANTXR1, CISD2 , (...) View the complete list with 18 more genes Panel complete gene list SLC25A4, SOX2, SPG7, TWNK, ACO2, TIMM8A, TK2, WFS1, ROBO3, SALL4, APTX, MFN2, RRM2B, RTN4IP1, KIF21A, CHN1, GPR143, TUBB3, ANTXR1, CISD2, SLC25A46, TMEM126A, C12orf65, TYMP, SLC38A8, FDXR, SETX, HESX1, PHOX2A, NDUFS1, NR2F1, FRMD7, OPA1, OPA3, OTX2, PAX6, POLG, PRPS1 Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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