Neuroectodermal-endocrine Syndrome

Table of contents:

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

Description

Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

Genes related to Neuroectodermal-endocrine Syndrome

COMP

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Clinical Features

Top most frequent phenotypes and symptoms related to Neuroectodermal-endocrine Syndrome

Short stature
Scoliosis
Growth delay
Pain
Brachydactyly
Gait disturbance
Abnormality of the skeletal system
Intellectual disability, mild
Kyphosis
Delayed skeletal maturation

And another 83 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.)
— The onset for some of the known clinical features related to this disease may vary, including childhood onset, childhood onset, childhood onset, and childhood onset .

Alternative names

Neuroectodermal-endocrine Syndrome Is also known as pseudoachondroplastic dysplasia, oerter-friedman-anderson syndrome, spondyloepiphyseal dysplasia, pseudoachondroplastic.

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.

Neuroectodermal-endocrine Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Skeletal Dysplasia Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2 Specificity 13 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...) View the complete list with 17 more genes Panel complete gene list RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP, AGPS, EVC, FGFR1, FGFR2, FGFR3, FLNA, FLNB, ALPL, GNPAT, HSPG2, LBR, LIFR, ARSE, NEK1, PEX7, POR, PPIB Specificity 3 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...) View the complete list with 17 more genes Panel complete gene list RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP, AGPS, EVC, FGFR1, FGFR2, FGFR3, FLNA, FLNB, ALPL, GNPAT, HSPG2, LBR, LIFR, ARSE, NEK1, PEX7, POR, PPIB Specificity 3 % Genes 100 %
COMP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). COMP Specificity 100 % Genes 100 %
FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TRIP11, EVC2, COL11A1, COL11A2, COMP, EVC, FGFR2 Specificity 15 % Genes 100 %
COMP. Sequencing of the exons 8-19. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). COMP Specificity 100 % Genes 100 %
COMP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). COMP Specificity 100 % Genes 100 %
Pseudoachondroplasia (sequence analysis of COMP gene). By CGC Genetics (Portugal). COMP Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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