Gapo Syndrome

Description

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

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.


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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
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
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
Specificity
3 %
Genes
100 %

We have 2 more panels available in our App

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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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