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.

Genes related to Woolly Hair, Autosomal Dominant; Adwh

KRT71
KRT25
LIPH
LPAR6
KRT74

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 Panel GTR000522393 complete gene list BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2, NFKBIA, PKP1, KRT14, CDSN, EDA, UBR1, PIGL, KRT86, KRT81, KRT83, MPLKIP, EDAR, GTF2H5, ST14, WNT10A, DSG4, EDARADD, TRPS1, ANTXR1, HR, TWIST2, DLX3, LPAR6, KRT74, MSX1, KCTD1, HOXC13, KRT85, SNRPE, APCDD1, LIPH, BANF1, NECTIN1, NECTIN4, CYP26C1 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 Panel GTR000523283 complete gene list FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, CNGB3, CLRN1, PCDH15, DLD, PANK2, HADHA, OPA3, FH, SMPD1, MECP2, SLC26A4, RS1, FAH, G6PC, MPI, OTC, HEXA, ALDH3A2, HEXB, CTSK, PAH, AGXT, CPT1A, GUSB, GALNS, NAGLU, SGSH, MMAB, MMAA, MUT, DBT, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, ASL, TPP1, CLN3, AGA, ARSB, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GJB6, GLA, IDS, IDUA, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, G6PD, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, TTPA, ABCC8, CAPN3, CLN5, LAMC2, PKHD1, DPYD, TMEM216, GHRHR, CYP21A2, VPS13B, SLC19A2, CTSC, MEFV, F11, VWF, F9, GP1BB, TTC37, GP9, WRN, WISP3, EDAR, NLRP7, LIPH, HMOX1 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 Panel GTR000560383 complete gene list HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, CNGB3, CLRN1, PCDH15, DLD, PANK2, HADHA, OPA3, FH, SMPD1, SLC26A4, FAH, G6PC, MPI, HEXA, ALDH3A2, HEXB, CTSK, PAH, AGXT, CPT1A, GUSB, GALNS, NAGLU, SGSH, MMAB, MMAA, MUT, DBT, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, ASL, TPP1, CLN3, AGA, ARSB, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, GJB6, IDUA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, CLN8, LAMB3, FKTN, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, TTPA, ABCC8, CAPN3, CLN5, LAMC2, PKHD1, DPYD, TMEM216, GHRHR, CYP21A2, VPS13B, SLC19A2, CTSC, MEFV, F11, GP1BB, TTC37, GP9, WRN, WISP3, EDAR, NLRP7, LIPH, HMOX1 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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