Woolly Hair, Autosomal Dominant; Adwh

Description

Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends. WH can appear as part of several syndromes, such as Naxos disease (OMIM ) and cardiofaciocutaneous syndrome (OMIM ) (summary by Petukhova et al., 2009).See {278150} for a discussion of genetic heterogeneity of autosomal recessive woolly hair.

Clinical Features

Top most frequent phenotypes and symptoms related to Woolly Hair, Autosomal Dominant; Adwh

  • Strabismus
  • Cataract
  • Milia
  • Nevus
  • Hyperkeratosis
  • Hyperhidrosis
  • Fine hair
  • Coarse hair
  • Palmoplantar hyperkeratosis
  • Brittle hair
And another 11 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Woolly Hair, Autosomal Dominant; Adwh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypotrichosis 13 (sequence analysis of KRT71 gene).

By CGC Genetics in Portugal.

KRT71
Specificity
100 %
Genes
20 %
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics in Portugal.

CDSN, DSG4, HR, LPAR6, KRT71, KRT74, RPL21, SNRPE, APCDD1, LIPH
Specificity
40 %
Genes
80 %
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics in Portugal.

CDSN, DSG4, HR, LPAR6, KRT71, KRT74, RPL21, SNRPE, APCDD1, LIPH
Specificity
40 %
Genes
80 %
Hypotrichosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CDSN, DSG4, HR, LPAR6, KRT71, KRT74, RPL21, SNRPE, APCDD1, LIPH
Specificity
40 %
Genes
80 %
Hypotrichosis NGS panel.

By Connective Tissue Gene Tests in United States.

CDSN, DSG4, HR, LPAR6, KRT71, KRT74, RPL21, SNRPE, APCDD1, LIPH
Specificity
40 %
Genes
80 %
Hypotrichosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CDSN, DSG4, HR, LPAR6, KRT71, KRT74, RPL21, SNRPE, APCDD1, LIPH
Specificity
40 %
Genes
80 %
Nonsyndromic hypotrichosis panel.

By Centogene AG - the Rare Disease Company in Germany.

CDSN, DSG4, HR, LPAR6, KRT71, KRT74, RPL21, SNRPE, APCDD1, LIPH
Specificity
40 %
Genes
80 %
Autosomal dominant woolly hair with hypotrichosis.

By Centogene AG - the Rare Disease Company in Germany.

KRT71
Specificity
100 %
Genes
20 %
KRT71.

By Fulgent Genetics Fulgent Genetics in United States.

KRT71
Specificity
100 %
Genes
20 %
KRT25.

By Fulgent Genetics Fulgent Genetics in United States.

KRT25
Specificity
100 %
Genes
20 %
Hypotrichosis type 7.

By Centogene AG - the Rare Disease Company in Germany.

LIPH
Specificity
100 %
Genes
20 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...)

View the complete list with 35 more genes
Specificity
6 %
Genes
60 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
20 %
LIPH.

By Fulgent Genetics Fulgent Genetics in United States.

LIPH
Specificity
100 %
Genes
20 %
Hypotricosis , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

CDSN, DSG4, HR, LPAR6, KRT74, RPL21, APCDD1, LIPH
Specificity
38 %
Genes
60 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
20 %
Hypotrichosis simplex, type 8 (sequence analysis of LPAR6 gene).

By CGC Genetics in Portugal.

LPAR6
Specificity
100 %
Genes
20 %
Hypotrichosis type 8.

By Centogene AG - the Rare Disease Company in Germany.

LPAR6
Specificity
100 %
Genes
20 %
LPAR6.

By Fulgent Genetics Fulgent Genetics in United States.

LPAR6
Specificity
100 %
Genes
20 %
Hypotrichosis 3 (sequence analysis of KRT74 gene).

By CGC Genetics in Portugal.

KRT74
Specificity
100 %
Genes
20 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics in Portugal.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85
Specificity
13 %
Genes
20 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics in Portugal.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85
Specificity
13 %
Genes
20 %
Ectodermal dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85, KDF1
Specificity
12 %
Genes
20 %
Ectodermal dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85, KDF1
Specificity
12 %
Genes
20 %
Ectodermal dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85, KDF1
Specificity
12 %
Genes
20 %
Autosomal dominant woolly hair with hypotrichosis.

By Centogene AG - the Rare Disease Company in Germany.

KRT74
Specificity
100 %
Genes
20 %
KRT74.

By Fulgent Genetics Fulgent Genetics in United States.

KRT74
Specificity
100 %
Genes
20 %

Alternate names

Woolly Hair, Autosomal Dominant; Adwh Is also known as ;familial woolly hair syndrome; familial wooly hair syndrome; hereditary woolly hair syndrome; hereditary wooly hair syndrome; wooly hair.



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