MCID: HYP137
MIFTS: 33

Hypotrichosis Simplex malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypotrichosis Simplex

About this section
Sources:
45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hypotrichosis Simplex:

Name: Hypotrichosis Simplex 45 22 51 24 65
Hereditary Hypotrichosis Simplex 51
 
Hhs 45

Characteristics:

Orphanet epidemiological data:

51
hypotrichosis simplex:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

Orphanet51 55654
UMLS via Orphanet66 C1854310
ICD10 via Orphanet28 L65.8
MESH via Orphanet37 C537160
UMLS65 C1854310

Summaries for Hypotrichosis Simplex

About this section
NIH Rare Diseases:45 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 simplex of the scalp and hypotrichosis 2, and has symptoms including abnormality of the eyelashes, alopecia and aplasia/hypoplasia of the eyebrow. An important gene associated with Hypotrichosis Simplex is APCDD1 (Adenomatosis Polyposis Coli Down-Regulated 1). Affiliated tissues include skin, monocytes and liver.

Related Diseases for Hypotrichosis Simplex

About this section

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



Diseases related to hypotrichosis simplex

Symptoms for Hypotrichosis Simplex

About this section

Symptoms:

 51 (show all 12)
  • absent/decreased/thin eyebrows
  • absent/decreased lashes
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • decreased body hair/axillar/pubic hairlessness
  • alopecia
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • lanugo
  • woolly/frizzy hair
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • follicular/erythematous/edematous papules/milium
  • pruritus/itching

HPO human phenotypes related to Hypotrichosis Simplex:

(show all 7)
id Description Frequency HPO Source Accession
1 abnormality of the eyelashes hallmark (90%) HP:0000499
2 alopecia hallmark (90%) HP:0001596
3 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
4 woolly hair typical (50%) HP:0002224
5 congenital, generalized hypertrichosis typical (50%) HP:0004540
6 hyperkeratosis occasional (7.5%) HP:0000962
7 pruritus occasional (7.5%) HP:0000989

Drugs & Therapeutics for Hypotrichosis Simplex

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hypotrichosis Simplex

Genetic Tests for Hypotrichosis Simplex

About this section

Genetic tests related to Hypotrichosis Simplex:

id Genetic test Affiliating Genes
1 Hypotrichosis Simplex22

Anatomical Context for Hypotrichosis Simplex

About this section

MalaCards organs/tissues related to Hypotrichosis Simplex:

33
Skin, Monocytes, Liver, Heart, Breast, T cells, Testes

Animal Models for Hypotrichosis Simplex or affiliated genes

About this section

MGI Mouse Phenotypes related to Hypotrichosis Simplex:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Hypotrichosis Simplex

About this section

Articles related to Hypotrichosis Simplex:

(show all 30)
idTitleAuthorsYear
1
Probenecid blocks human P2X7 receptor-induced dye uptake via a pannexin-1 independent mechanism. (24671093)
2014
2
No implication of thromboxane prostanoid receptors in reactive hyperemia of skin and skeletal muscle in human forearm. (23107873)
2013
3
Illuminating regeneration: noninvasive imaging of disease progression in muscular dystrophy. (23619358)
2013
4
Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies. (22910529)
2012
5
Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency. (21541720)
2011
6
Relationship of TLR2 and TLR4 gene polymorphism with a penchant for individual urogenital infections]. (21950140)
2011
7
Peripapillary neovascular membrane: a rare cause of acute vision loss in pediatric idiopathic intracranial hypertension. (21397812)
2011
8
CD133(+) human pulmonary adenocarcinoma cells induce apoptosis of CD8(+) T cells by highly expressed galectin-3. (20144269)
2010
9
The effects of shockwave on bone healing and systemic concentrations of nitric oxide (NO), TGF-beta1, VEGF and BMP-2 in long bone non-unions. (19281856)
2009
10
Growth hormone decreases visceral fat and improves cardiovascular risk markers in women with hypopituitarism: a randomized, placebo-controlled study. (18381581)
2008
11
GenoType MTBDR assays for the diagnosis of multidrug-resistant tuberculosis: a meta-analysis. (18614561)
2008
12
Temporal and spatial regulation of the phosphatidate phosphatases lipin 1 and 2. (18694939)
2008
13
Serotonin acts as an up-regulator of acyl-coenzyme A:cholesterol acyltransferase-1 in human monocyte-macrophages. (16157345)
2006
14
Isolation and cultivation of neuronal precursor cells from the developing human enteric nervous system as a tool for cell therapy in dysganglionosis. (16267668)
2006
15
A role for the eIF4E-binding protein 4E-T in P-body formation and mRNA decay. (16157702)
2005
16
Activation of tubular epithelial cells by mesangial-derived TNF-alpha: glomerulotubular communication in IgA nephropathy. (15673307)
2005
17
Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients]. (16086286)
2005
18
Secretory products of breast cancer cells upregulate hyaluronan production in a human osteoblast cell line. (16642399)
2005
19
The transcription factor profile of human mast cells in comparison with monocytes and granulocytes. (15666093)
2005
20
CYP3A5 variant allele frequencies in Dutch Caucasians. (12324482)
2002
21
Estrogen therapy for hepatectomy patients with poor liver function? (12323121)
2002
22
Loss of prohibitins, though it shortens the replicative life span of yeast cells undergoing division, does not shorten the chronological life span of G0-arrested cells. (11744041)
2002
23
Isolation and molecular characterization of the 5'-upstream region of the human TRAIL gene. (11027498)
2000
24
Extramammary Paget disease is characterized by the consistent lack of estrogen and progesterone receptors but frequently expresses androgen receptor. (10761460)
2000
25
A switch from oral (2 mg/day) to transdermal (50 microg/day) 17beta-estradiol therapy increases serum insulin-like growth factor-I levels in recombinant human growth hormone (GH)-substituted women with GH deficiency. (10634425)
2000
26
Molecular evolution of the domain structures of protein disulfide isomerases. (9694669)
1998
27
Hepatic fibrosis associated with hereditary cystinosis: a novel form of noncirrhotic portal hypertension. (7838843)
1994
28
Absence of modulation of monokine production via endogenous cyclooxygenase or 5-lipoxygenase metabolites: MK-886 (3-[1-(4-chlorobenzyl)-3-t-butyl-thio-5-isopropylindol-2-yl]-2,2- dimethylpropanoic acid), indomethacin, or arachidonate fail to alter immunoreactive interleukin-1 beta, or TNF-alpha production by human monocytes in vitro. (1900463)
1991
29
Disseminated cholesterol embolism presenting as neuromyelitis optica. (3117307)
1987
30
The evolution of alpha heavy chain disease. (818898)
1976

Variations for Hypotrichosis Simplex

About this section

Expression for genes affiliated with Hypotrichosis Simplex

About this section
Search GEO for disease gene expression data for Hypotrichosis Simplex.

Pathways for genes affiliated with Hypotrichosis Simplex

About this section

GO Terms for genes affiliated with Hypotrichosis Simplex

About this section

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

idNameGO IDScoreTop Affiliating Genes
1single organismal cell-cell adhesionGO:00163379.1CDSN, DSG4

Sources for Hypotrichosis Simplex

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet