MCID: HYP137
MIFTS: 33

Hypotrichosis Simplex

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hypotrichosis Simplex

MalaCards integrated aliases for Hypotrichosis Simplex:

Name: Hypotrichosis Simplex 49 55 28 13 69
Hereditary Hypotrichosis Simplex 55
Hhs 49

Characteristics:

Orphanet epidemiological data:

55
hypotrichosis simplex
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

Orphanet 55 ORPHA55654
MESH via Orphanet 42 C537160
UMLS via Orphanet 70 C1854310
ICD10 via Orphanet 33 L65.8
SNOMED-CT via HPO 65 278040002 56317004
UMLS 69 C1854310

Summaries for Hypotrichosis Simplex

NIH Rare Diseases : 49 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. Last updated: 7/12/2011

MalaCards based summary : Hypotrichosis Simplex, also known as hereditary hypotrichosis simplex, is related to hypotrichosis 1 and hypotrichosis 8, and has symptoms including sparse eyelashes, alopecia and sparse body hair. 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.

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 32.8 APCDD1 CDSN
2 hypotrichosis 8 31.2 DSG4 LIPH LPAR6
3 hypotrichosis 7 29.8 DSG4 LIPH LPAR6
4 hypotrichosis 28.7 APCDD1 CDSN DSG4 LIPH LPAR6 RPL21
5 hypotrichosis simplex of the scalp 12.3
6 hypotrichosis 2 11.9
7 hypotrichosis 3 11.9
8 tumoral calcinosis, hyperphosphatemic, familial 11.9
9 marie unna congenital hypotrichosis 11.0
10 woolly hair syndrome 10.1 LIPH LPAR6
11 holoprosencephaly 9.8
12 hypotrichosis 6 9.8 DSG4 LIPH LPAR6
13 hair disease 9.7 DSG4 LIPH LPAR6
14 monilethrix 9.7 DSG4 LPAR6
15 osteoporosis, juvenile 9.6 LRP5 WNT3A
16 craniodiaphyseal dysplasia 9.5 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:

55 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sparse eyelashes 55 31 hallmark (90%) Very frequent (99-80%) HP:0000653
2 alopecia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001596
3 sparse body hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002231
4 hypotrichosis of the scalp 55 31 hallmark (90%) Very frequent (99-80%) HP:0004782
5 sparse eyebrow 55 Very frequent (99-80%)
6 sparse hair 55 Frequent (79-30%)
7 sparse and thin eyebrow 31 hallmark (90%) HP:0000535

Drugs & Therapeutics for Hypotrichosis Simplex

Search Clinical Trials , NIH Clinical Center for Hypotrichosis Simplex

Genetic Tests for Hypotrichosis Simplex

Genetic tests related to Hypotrichosis Simplex:

# Genetic test Affiliating Genes
1 Hypotrichosis Simplex 28 APCDD1

Anatomical Context for Hypotrichosis Simplex

MalaCards organs/tissues related to Hypotrichosis Simplex:

38
Skin

Publications for Hypotrichosis Simplex

Articles related to Hypotrichosis Simplex:

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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....