Helix Syndrome; Helix
Clinical Features
Top most frequent phenotypes and symptoms related to Helix Syndrome; Helix
- Pain
- Renal insufficiency
- Dry skin
- Ichthyosis
- Postural instability
- Hypotension
- Nephrolithiasis
- Hypohidrosis
- Nephrocalcinosis
- Cachexia
And another 11 symptoms. If you need more information about this disease we can help you.
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
Helix Syndrome; Helix Is also known as hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia.
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.Helix Syndrome; Helix Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Hereditary kidney disorders - different panels.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)
View the complete list with 386 more genes
Specificity
1 %
Genes
100 % |
CLDN10.
By Fulgent Genetics Fulgent Genetics (United States).
CLDN10
Specificity
100 %
Genes
100 % |
You can get up to -6 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 DESBUQUOIS DYSPLASIA 2; DBQD2 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 BRUGADA SYNDROME 6; BRGDA6 MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A JOUBERT SYNDROME WITH OCULAR DEFECT