HHS
MCID: HYP137
MIFTS: 33

Hypotrichosis Simplex (HHS) malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hypotrichosis Simplex

Aliases & Descriptions for Hypotrichosis Simplex:

Name: Hypotrichosis Simplex 50 56 29 13 69
Hereditary Hypotrichosis Simplex 56
Hhs 50

Characteristics:

Orphanet epidemiological data:

56
hypotrichosis simplex
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

Orphanet 56 ORPHA55654
MESH via Orphanet 43 C537160
ICD10 via Orphanet 34 L65.8
UMLS via Orphanet 70 C1854310

Summaries for Hypotrichosis Simplex

NIH Rare Diseases : 50 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 recessive trait. 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 3 and hypotrichosis simplex of the scalp, and has symptoms including alopecia, sparse body hair and sparse eyelashes. An important gene associated with Hypotrichosis Simplex is APCDD1 (APC Down-Regulated 1), and among its related pathways/superpathways are Keratinization and Regulation of FZD by ubiquitination. Affiliated tissues include skin.

Related Diseases for Hypotrichosis Simplex

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:

56 32 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 56 32 Very frequent (99-80%) HP:0001596
2 sparse body hair 56 32 Very frequent (99-80%) HP:0002231
3 sparse eyelashes 56 32 Very frequent (99-80%) HP:0000653
4 hypotrichosis of the scalp 56 32 Very frequent (99-80%) HP:0004782
5 sparse hair 56 Frequent (79-30%)
6 sparse eyebrow 56 Very frequent (99-80%)
7 sparse and thin eyebrow 32 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:

id Genetic test Affiliating Genes
1 Hypotrichosis Simplex 29

Anatomical Context for Hypotrichosis Simplex

MalaCards organs/tissues related to Hypotrichosis Simplex:

39
Skin

Publications for Hypotrichosis Simplex

Articles related to Hypotrichosis Simplex:

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 CDSN DSG4 KRT74
2
Show member pathways
10.65 LRP5 WNT3A
3 10.4 LRP5 WNT3A
4
Show member pathways
9.95 LRP5 WNT3A

GO Terms for Hypotrichosis Simplex

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

id Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 9.16 CDSN DSG4
2 desmosome GO:0030057 8.96 CDSN DSG4
3 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.62 LRP5 WNT3A

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

id Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.33 APCDD1 LRP5 WNT3A
2 keratinocyte differentiation GO:0030216 9.32 CDSN DSG4
3 hair follicle development GO:0001942 9.26 APCDD1 DSG4
4 beta-catenin destruction complex disassembly GO:1904886 8.96 LRP5 WNT3A
5 cornification GO:0070268 8.8 CDSN DSG4 KRT74

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....