Arthrogryposis, Perthes Disease, And Upward Gaze Palsy; Apug

Clinical Features

Top most frequent phenotypes and symptoms related to Arthrogryposis, Perthes Disease, And Upward Gaze Palsy; Apug

  • Flexion contracture
  • Ventricular septal defect
  • Atrial septal defect
  • Camptodactyly
  • Arthrogryposis multiplex congenita
  • Pulmonic stenosis
  • Full cheeks
  • Asthma
  • Inflammatory abnormality of the skin
  • Joint contracture of the hand

And another 6 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.

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.

Arthrogryposis, Perthes Disease, And Upward Gaze Palsy; Apug Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Congenital contracture syndrome extended NGS panel.

By Connective Tissue Gene Tests (United States).

TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Congenital contracture syndrome extended Comprehensive panel.

By Connective Tissue Gene Tests (United States).

TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Congenital contracture syndrome extended Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Lethal congenital contracture syndrome and related disorders Comprehensive Panel.

By Connective Tissue Gene Tests (United States).

VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Lethal congenital contracture syndrome and related disorders NGS Panel.

By Connective Tissue Gene Tests (United States).

VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel.

By Connective Tissue Gene Tests (United States).

VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
NEK9.

By Fulgent Genetics Fulgent Genetics (United States).

NEK9
Specificity
100 %
Genes
100 %

You can get up to 1 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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