Details of Disease

General Information of Disease (ID: DIS8WHDJ)

Disease Name Hypotrichosis simplex
Synonyms hereditary hypotrichosis simplex
Definition Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.
Disease Hierarchy
DIS37HU4: Alopecia
DIS8WHDJ: Hypotrichosis simplex
Disease Identifiers
MONDO ID
MONDO_0018914
MESH ID
C537160
UMLS CUI
C1854310
MedGen ID
344257
Orphanet ID
55654
SNOMED CT ID
723362004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
LPAR6 TTZDAGB Supportive Autosomal dominant [1]
LPAR6 TTZDAGB Strong Genetic Variation [2]
LSS TT7O8ZA Strong Biomarker [3]
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This Disease Is Related to 12 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDSN OTQW4HV6 Limited Genetic Variation [4]
APCDD1 OTV9AD0L Supportive Autosomal dominant [5]
DSG4 OTWIQDC4 Supportive Autosomal dominant [6]
LIPH OTRGYLKL Supportive Autosomal dominant [7]
LPAR6 OT4BY3W4 Supportive Autosomal dominant [1]
LSS OT9W2SFH Supportive Autosomal dominant [8]
RPL21 OT74GE74 Supportive Autosomal dominant [9]
SNRPE OT18J6E8 Supportive Autosomal dominant [10]
GALNT3 OT7M67WT moderate Genetic Variation [11]
HNRNPH3 OTODTW0I moderate Altered Expression [12]
PTPN5 OT2H1KDK moderate Genetic Variation [13]
TGIF1 OTN9VHAG moderate Genetic Variation [14]
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⏷ Show the Full List of 12 DOT(s)

References

1 Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). Hum Genet. 2008 Jun;123(5):515-9. doi: 10.1007/s00439-008-0507-7. Epub 2008 May 7.
2 Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.Arch Dermatol Res. 2009 Sep;301(8):621-4. doi: 10.1007/s00403-009-0971-5. Epub 2009 Jun 16.
3 Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.Genet Med. 2019 Sep;21(9):2025-2035. doi: 10.1038/s41436-019-0445-x. Epub 2019 Feb 6.
4 Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.J Dermatol. 2020 Jan;47(1):3-7. doi: 10.1111/1346-8138.15136. Epub 2019 Oct 29.
5 APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature. 2010 Apr 15;464(7291):1043-7. doi: 10.1038/nature08875.
6 Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. Arch Dermatol Res. 2006 Aug;298(3):135-7. doi: 10.1007/s00403-006-0671-3. Epub 2006 Jun 13.
7 A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). Clin Genet. 2008 Aug;74(2):184-8. doi: 10.1111/j.1399-0004.2008.01011.x. Epub 2008 Apr 28.
8 Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am J Hum Genet. 2018 Nov 1;103(5):777-785. doi: 10.1016/j.ajhg.2018.09.011. Epub 2018 Oct 25.
9 Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. Hum Mutat. 2011 Jul;32(7):710-4. doi: 10.1002/humu.21503. Epub 2011 Apr 26.
10 Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet. 2013 Jan 10;92(1):81-7. doi: 10.1016/j.ajhg.2012.10.022. Epub 2012 Dec 13.
11 A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family.J Cutan Pathol. 2010 Jul;37(7):758-63. doi: 10.1111/j.1600-0560.2009.01415.x. Epub 2009 Sep 14.
12 Tacrolimus fails to regulate collagen expression in dermal fibroblasts.J Surg Res. 2013 Sep;184(1):678-90. doi: 10.1016/j.jss.2013.04.006. Epub 2013 Apr 25.
13 Missense Variant in MAPK Inactivator PTPN5 Is Associated with Decreased Severity of Post-Burn Hypertrophic Scarring.PLoS One. 2016 Feb 12;11(2):e0149206. doi: 10.1371/journal.pone.0149206. eCollection 2016.
14 Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion.Am J Med Genet A. 2006 Dec 1;140(23):2598-602. doi: 10.1002/ajmg.a.31386.