Hypotrichosis 11; Hypt11

Table of contents:

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

Genes related to Hypotrichosis 11; Hypt11

SNRPE

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Clinical Features

Phenotypes and symptoms related to Hypotrichosis 11; Hypt11

Alopecia
Hypotrichosis
Sparse eyelashes
Aplasia/Hypoplasia of the eyebrow
Alopecia of scalp
Sparse or absent eyelashes
Absent axillary hair

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.

Hypotrichosis 11; Hypt11 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 11. By Centogene AG - the Rare Disease Company (Germany). SNRPE 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 Panel complete gene list BCS1L, SNRPE, SOX18, ST14, TRPS1, IFT122, WNT10A, EDARADD, SHOC2, LPAR6, APCDD1, TP63, MPLKIP, UBR1, BANF1, CDH3, PORCN, CDSN, KCTD1, WDR19, LIPH, NECTIN4, CYP26C1, TWIST2, ANTXR1, GTF2H5, DSG4, CTSC, OFD1, GRHL2, KRT74, EDAR, DLX3, WDR35, IFT43, DSP, EDA, FGF10, FGFR2, FGFR3, GJA1, GJB6, HOXC13, HR, KRT14, KRT81, KRT83, KRT85, KRT86, MSX1, NFKBIA, PIGL, PKP1, AXIN2, NECTIN1 Specificity 2 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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