Hypotrichosis 7; Hypt7
Clinical Features
Top most frequent phenotypes and symptoms related to Hypotrichosis 7; Hypt7
- Hyperhidrosis
- Hyperkeratosis
- Abnormality of the nervous system
- Sparse hair
- Papule
- Hypotrichosis
- Ichthyosis
- Sparse and thin eyebrow
- Abnormality of the hair
- Sparse eyelashes
And another 9 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
Hypotrichosis 7; Hypt7 Is also known as hypotrichosis, localized, autosomal recessive 2, ah, hypotrichosis, total, mari type, hypotrichosis, autosomal recessive, lah2.
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.Hypotrichosis 7; Hypt7 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Hypotrichosis (NGS panel of 10 genes).
By CGC Genetics (Portugal).
RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 % |
Hypotrichosis (NGS panel of 10 genes).
By CGC Genetics (Portugal).
RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 % |
Hypotrichosis Comprehensive panel.
By Connective Tissue Gene Tests (United States).
RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 % |
Hypotrichosis NGS panel.
By Connective Tissue Gene Tests (United States).
RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 % |
Hypotrichosis Deletion / Duplication panel.
By Connective Tissue Gene Tests (United States).
RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 % |
Hypotrichosis type 7.
By Centogene AG - the Rare Disease Company (Germany).
LIPH
Specificity
100 %
Genes
100 % |
Nonsyndromic hypotrichosis panel.
By Centogene AG - the Rare Disease Company (Germany).
RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
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 % |
You can get up to 7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WATSON SYNDROME; WTSN VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A STARGARDT DISEASE 4; STGD4 CRANIOSYNOSTOSIS 4; CRS4 ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL ENHANCED S-CONE SYNDROME; ESCS BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A