Details of Disease

General Information of Disease (ID: DISSW933)

Disease Name Hypotrichosis
Definition A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.
Disease Hierarchy
DISXPI0V: Disorder of pilosebaceous unit
DISYKSRF: Genetic disease
DISSW933: Hypotrichosis
Disease Identifiers
MONDO ID
MONDO_0003037
MESH ID
D007039
UMLS CUI
C0020678
MedGen ID
6993
SNOMED CT ID
53602002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ST14 TTPRO7W moderate Genetic Variation [1]
CDH3 TTARMD9 Strong Genetic Variation [2]
GPRC5D TTHRAPJ Strong Genetic Variation [3]
LPAR6 TTZDAGB Definitive Genetic Variation [4]
------------------------------------------------------------------------------------
This Disease Is Related to 12 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DCAF17 OTFNVJLN Limited Genetic Variation [5]
HOXC13 OT52AVNA Limited Biomarker [6]
KRT25 OT4JMRN6 Limited Genetic Variation [7]
BCS1L OT5PY5CY Strong Genetic Variation [8]
CST6 OTZVHJTF Strong Genetic Variation [9]
DSC2 OTODVH8K Strong Genetic Variation [10]
DSC3 OTYG47F8 Strong Genetic Variation [10]
EDA OTAKS5WS Strong Genetic Variation [11]
GPRC5C OT45AJT3 Strong Genetic Variation [3]
KRT71 OTI91X9Z Strong Biomarker [12]
SOX18 OTPUMHWA Strong Genetic Variation [13]
DSG4 OTWIQDC4 Definitive Genetic Variation [14]
------------------------------------------------------------------------------------
⏷ Show the Full List of 12 DOT(s)

References

1 A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.Orphanet J Rare Dis. 2017 Dec 6;12(1):176. doi: 10.1186/s13023-017-0728-8.
2 Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.Mol Genet Genomic Med. 2019 Nov;7(11):e975. doi: 10.1002/mgg3.975. Epub 2019 Sep 27.
3 Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.Exp Dermatol. 2009 Mar;18(3):218-21. doi: 10.1111/j.1600-0625.2008.00788.x. Epub 2008 Sep 18.
4 Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families.Int J Dermatol. 2019 Aug;58(8):946-952. doi: 10.1111/ijd.14480. Epub 2019 May 11.
5 Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.Pediatr Dermatol. 2014 Jan-Feb;31(1):83-7. doi: 10.1111/pde.12219. Epub 2013 Sep 9.
6 The disrupted balance between hair follicles and sebaceous glands in Hoxc13-ablated rabbits.FASEB J. 2019 Jan;33(1):1226-1234. doi: 10.1096/fj.201800928RR. Epub 2018 Aug 20.
7 An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.Sci Rep. 2018 Apr 23;8(1):6374. doi: 10.1038/s41598-018-24865-3.
8 Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.Gene. 2015 Jul 15;566(1):84-8. doi: 10.1016/j.gene.2015.04.039. Epub 2015 Apr 18.
9 Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. Genet Med. 2019 Jul;21(7):1559-1567. doi: 10.1038/s41436-018-0355-3. Epub 2018 Nov 14.
10 Desmosomal genodermatoses.Br J Dermatol. 2012 Jan;166(1):36-45. doi: 10.1111/j.1365-2133.2011.10640.x.
11 de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia.BMC Genomics. 2019 Sep 18;20(1):715. doi: 10.1186/s12864-019-6087-1.
12 A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. J Invest Dermatol. 2012 Oct;132(10):2342-2349. doi: 10.1038/jid.2012.154. Epub 2012 May 17.
13 Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).Eur J Med Genet. 2018 May;61(5):269-272. doi: 10.1016/j.ejmg.2018.01.001. Epub 2018 Jan 4.
14 A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.Clin Exp Dermatol. 2015 Jan;40(1):78-84. doi: 10.1111/ced.12457. Epub 2014 Sep 23.