MCID: HYP137
MIFTS: 34

Hypotrichosis Simplex

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hypotrichosis Simplex

MalaCards integrated aliases for Hypotrichosis Simplex:

Name: Hypotrichosis Simplex 53 59 29 13 6 73
Hereditary Hypotrichosis Simplex 59 37
Hhs 53

Characteristics:

Orphanet epidemiological data:

59
hypotrichosis simplex
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA55654
MESH via Orphanet 45 C537160
ICD10 via Orphanet 34 L65.8
UMLS via Orphanet 74 C1854310
KEGG 37 H00786
SNOMED-CT via HPO 69 278040002 56317004
UMLS 73 C1854310

Summaries for Hypotrichosis Simplex

NIH Rare Diseases : 53 Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all body hair is affected. The progressive thinning of the hair shaft is a typical feature of androgenetic alopecia. Hypotrichosis simplex can be inherited either as an autosomal dominant or autosomal recessivetrait. Some cases are caused by mutations in the APCDD1 gene on chromosome 18p11. To date, there is no treatment for this condition.

MalaCards based summary : Hypotrichosis Simplex, also known as hereditary hypotrichosis simplex, is related to hypotrichosis 1 and hypotrichosis 8. An important gene associated with Hypotrichosis Simplex is APCDD1 (APC Down-Regulated 1), and among its related pathways/superpathways are Regulation of FZD by ubiquitination and Wnt signaling network. Affiliated tissues include skin, and related phenotypes are sparse eyelashes and alopecia

Related Diseases for Hypotrichosis Simplex

Diseases related to Hypotrichosis Simplex via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 32.9 APCDD1 CDSN
2 hypotrichosis 8 30.9 DSG4 LIPH LPAR6
3 woolly hair syndrome 30.3 LIPH LPAR6
4 hypotrichosis 7 29.6 DSG4 LIPH LPAR6
5 hypotrichosis 27.5 APCDD1 CDSN DSG4 LIPH LPAR6 RPL21
6 hypotrichosis simplex of the scalp 12.2
7 hypotrichosis 2 11.9
8 hypotrichosis 3 11.9
9 tumoral calcinosis, hyperphosphatemic, familial, 1 11.8
10 marie unna congenital hypotrichosis 11.0
11 holoprosencephaly 9.8
12 hypotrichosis 6 9.7 DSG4 LIPH LPAR6
13 hair disease 9.6 DSG4 LIPH LPAR6
14 monilethrix 9.5 DSG4 LPAR6
15 osteoporosis, juvenile 9.3 LRP5 WNT3A
16 craniodiaphyseal dysplasia 9.2 LRP5 WNT3A

Graphical network of the top 20 diseases related to Hypotrichosis Simplex:



Diseases related to Hypotrichosis Simplex

Symptoms & Phenotypes for Hypotrichosis Simplex

Human phenotypes related to Hypotrichosis Simplex:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sparse eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000653
2 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
3 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002231
4 hypotrichosis of the scalp 59 32 hallmark (90%) Very frequent (99-80%) HP:0004782
5 sparse eyebrow 59 Very frequent (99-80%)
6 sparse hair 59 Frequent (79-30%)
7 sparse and thin eyebrow 32 hallmark (90%) HP:0000535

Drugs & Therapeutics for Hypotrichosis Simplex

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Topical Gentamycin for Hereditary Hypotrichosis Simplex Caused by Nonsense Mutations in CDSN Not yet recruiting NCT03492866 Phase 2 Gentamicin Sulfate

Search NIH Clinical Center for Hypotrichosis Simplex

Genetic Tests for Hypotrichosis Simplex

Genetic tests related to Hypotrichosis Simplex:

# Genetic test Affiliating Genes
1 Hypotrichosis Simplex 29 APCDD1

Anatomical Context for Hypotrichosis Simplex

MalaCards organs/tissues related to Hypotrichosis Simplex:

41
Skin

Publications for Hypotrichosis Simplex

Articles related to Hypotrichosis Simplex:

(show all 32)
# Title Authors Year
1
A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family. ( 29797736 )
2018
2
Hereditary hypotrichosis simplex of the scalp. ( 28873114 )
2017
3
Hereditary hypotrichosis simplex of the scalp. ( 25484430 )
2014
4
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. ( 23746069 )
2014
5
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. ( 24354445 )
2013
6
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. ( 23246290 )
2013
7
A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family. ( 22512811 )
2012
8
[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. ( 22875505 )
2012
9
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. ( 25386265 )
2011
10
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. ( 21412954 )
2011
11
Mutations in two genes on chromosome 13 resulting in a complex hair and skin phenotype due to two rare genodermatoses: KLICK and autosomal recessive woolly hair/hypotrichosis simplex. ( 21275938 )
2011
12
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. ( 20393562 )
2010
13
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. ( 19751230 )
2010
14
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. ( 19536142 )
2009
15
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. ( 19766349 )
2009
16
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. ( 18820939 )
2009
17
[Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome]. ( 19061667 )
2008
18
Hypotrichosis simplex of the scalp. ( 17958879 )
2007
19
A case of hereditary hypotrichosis simplex. ( 16987285 )
2006
20
Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion. ( 17001671 )
2006
21
A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. ( 16307662 )
2005
22
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. ( 12754508 )
2003
23
Hereditary hypotrichosis simplex of the scalp. ( 11994181 )
2002
24
Hereditary hypotrichosis simplex: report of a family. ( 12472539 )
2002
25
Guess what! Hypotrichosis simplex. ( 11458928 )
2001
26
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. ( 10793007 )
2000
27
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. ( 10878665 )
2000
28
A sporadic case of congenital hypotrichosis simplex of the scalp: difficulties in diagnosis and classification. ( 10469417 )
1999
29
Hereditary hypotrichosis simplex. ( 9621144 )
1998
30
Hereditary hypotrichosis simplex of the scalp. ( 8520061 )
1995
31
Hereditary hypotrichosis simplex of the scalp. ( 3652491 )
1987
32
Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance. ( 4141628 )
1974

Variations for Hypotrichosis Simplex

ClinVar genetic disease variations for Hypotrichosis Simplex:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APCDD1 NM_153000.4(APCDD1): c.26T> G (p.Leu9Arg) single nucleotide variant Pathogenic rs267606659 GRCh37 Chromosome 18, 10455004: 10455004
2 APCDD1 NM_153000.4(APCDD1): c.26T> G (p.Leu9Arg) single nucleotide variant Pathogenic rs267606659 GRCh38 Chromosome 18, 10455007: 10455007

Expression for Hypotrichosis Simplex

Search GEO for disease gene expression data for Hypotrichosis Simplex.

Pathways for Hypotrichosis Simplex

Pathways related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.65 LRP5 WNT3A
2 10.4 LRP5 WNT3A
3
Show member pathways
9.95 LRP5 WNT3A

GO Terms for Hypotrichosis Simplex

Cellular components related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.8 APCDD1 CDSN DSG4 LIPH LPAR6 LRP5
2 cornified envelope GO:0001533 9.16 CDSN DSG4
3 desmosome GO:0030057 8.96 CDSN DSG4
4 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.62 LRP5 WNT3A

Biological processes related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 canonical Wnt signaling pathway GO:0060070 9.32 LRP5 WNT3A
2 keratinocyte differentiation GO:0030216 9.26 CDSN DSG4
3 hair follicle development GO:0001942 9.16 APCDD1 DSG4
4 Wnt signaling pathway GO:0016055 9.13 APCDD1 LRP5 WNT3A
5 beta-catenin destruction complex disassembly GO:1904886 8.62 LRP5 WNT3A

Molecular functions related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Wnt-protein binding GO:0017147 8.62 APCDD1 LRP5

Sources for Hypotrichosis Simplex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....