MCID: HYP087
MIFTS: 43

Hypotrichosis malady

Summaries for Hypotrichosis

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Disease Ontology:8 A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has material basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles.

MalaCards: Hypotrichosis is related to monilethrix and ichthyosis with hypotrichosis. An important gene associated with Hypotrichosis is DSG4 (desmoglein 4). The compounds 10panx and gap 27 have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and thyroid, and related mouse phenotype integument.

Wikipedia:63 Hypotrichosis is a condition of abnormal hair patterns - predominantly loss or reduction. It occurs,... more...

Description from OMIM:46 607903, 613981, 146550, 146520, 601553 604379, 278150, 605389 more

Aliases & Classifications for Hypotrichosis

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8Disease Ontology, 10DISEASES, 60UMLS, 46OMIM, 39NCIt, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

hypotrichosis 8 10 60


External Ids:

Disease Ontology8 DOID:4535
SNOMED-CT56 53602002
NCIt39 C34720
MeSH34 D007039

Related Diseases for Hypotrichosis

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Hypotrichosis 11 family:

hypotrichosis Hypotrichosis 2
Hypotrichosis 10 Hypotrichosis 9
Hypotrichosis 8

Diseases related to Hypotrichosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 264)
idRelated DiseaseScoreTop Affiliating Genes
1monilethrix30.2KRT83, DSG4, LIPH
2ichthyosis with hypotrichosis30.1ST14
3alopecia30.1HR
4alopecia universalis29.6HR
5clouston syndrome29.6GJB3, GJB4
6skin disease29.6GJB4, GJB3, CDH3, CDSN
7autosomal recessive hypotrichosis10.5
8hypotrichosis simplex10.3
9juvenile macular degeneration and hypotrichosis10.3
10metaphyseal dysplasia without hypotrichosis10.3
11hypotrichosis simplex of scalp 110.3
12hypotrichosis 810.3
13marie unna congenital hypotrichosis10.2
14hypotrichosis-lymphedema-telangiectasia syndrome10.2
15woolly hair hypotrichosis everted lower lip and outstanding ears10.2
16spondyloepimetaphyseal dysplasia with hypotrichosis10.2
17ichthyosis with hypotrichosis, autosomal recessive10.2
18hypotrichosis, hereditary, marie unna type, 110.2
19hypotrichosis simplex of the scalp 210.2
20hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
21total hypotrichosis, mari type10.2
22hypotrichosis 1110.2
23anodontia10.1
24basal cell carcinoma10.1
25cartilage-hair hypoplasia10.1
26hypotrichosis of eyelid10.1
27hallermann-streiff syndrome10.1
28lymphedema10.1
29brachymetapody anodontia hypotrichosis albinoidism10.1
30localized autosomal recessive hypotrichosis10.1
31schopf-schulz-passarge syndrome10.1
32hypohidrosis10.0
33follicular basal cell carcinoma10.0
34roberts syndrome10.0
35cataract10.0
36keratosis10.0
37congenital hypotrichosis milia10.0
38leukomelanoderma mental redardation hypotrichosis10.0
39ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.0
40short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10.0
41hypotrichosis and recurrent skin vesicles10.0
42erythrokeratodermia variabilis10.0GJB4, GJB3
43trichorhinophalangeal syndrome type i9.9
44netherton syndrome9.9
45syndactyly9.9
46sc phocomelia syndrome9.9
47cleft palate9.9
48ackerman syndrome9.9
49bazex-dupre-christol syndrome9.9
50thumb deformity, alopecia, pigmentation anomaly9.9

Graphical network of the top 20 diseases related to Hypotrichosis:



Diseases related to hypotrichosis

Clinical Features for Hypotrichosis

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46OMIM
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Clinical features from OMIM:

607903,613981,146550,146520,601553,604379,278150,605389

Drugs & Therapeutics for Hypotrichosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hypotrichosis

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Anatomical Context for Hypotrichosis

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32MalaCards
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MalaCards organs/tissues related to Hypotrichosis:

32
Skin, Bone, Thyroid

Animal Models for Hypotrichosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hypotrichosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.8HR, GJB3, CDH3, CDSN, DSG4, LIPH

Publications for Hypotrichosis

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50PubMed
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Articles related to Hypotrichosis:

(show top 50)    (show all 238)
idTitleAuthorsYear
1
Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review. (24261346)
2013
2
Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy. (23143461)
2012
3
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. (22592156)
2012
4
Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. (20814945)
2010
5
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. (19751230)
2010
6
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. (20393562)
2010
7
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. (19262606)
2009
8
Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis. (20055871)
2009
9
A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2). (18795930)
2009
10
A novel U2HR non-synonymous mutation in a Chinese patient with Marie Unna Hereditary Hypotrichosis. (19540091)
2009
11
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. (19766349)
2009
12
Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). (19167195)
2009
13
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). (18445047)
2008
14
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. (18692127)
2008
15
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. (17392831)
2007
16
Recessive autosomal ichthyosis with hypotrichosis with mutation in the ST14 gene]. (17978729)
2007
17
Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion. (17001671)
2006
18
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. (16575393)
2006
19
Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings. (16120155)
2005
20
A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. (15191570)
2004
21
Congenital hypotrichosis in a white-tailed deer fawn from South Dakota. (15137504)
2004
22
Hypotrichosis, long eyelashes and atopic dermatitis: a new syndrome? (15096163)
2004
23
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. (12740761)
2003
24
New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. (12207605)
2002
25
Guess what! Hypotrichosis simplex. (11458928)
2001
26
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. (11544476)
2001
27
Guess what! Hypotrichosis congenita of Marie Unna: comment. (11458926)
2001
28
Marie Unna hypotrichosis in an Asian family. (11349466)
2001
29
Total hypotrichosis: genetic form of alopecia not linked to hairless gene. (10509509)
1999
30
A sporadic case of congenital hypotrichosis simplex of the scalp: difficulties in diagnosis and classification. (10469417)
1999
31
Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? (9450882)
1998
32
Multiple follicular hamartomas with sweat gland and sebaceous differentiation, vermiculate atrophoderma, milia, hypotrichosis, and late development of multiple basal cell carcinomas. (9810915)
1998
33
Hypotrichosis, hair structure defects, hypercysteine hair and glucosuria: a new genetic syndrome? (8746349)
1996
34
Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome? (7577599)
1995
35
Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome. (2363424)
1990
36
Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. (2277385)
1990
37
Pathological studies of cross-related congenital hypotrichosis in cattle. (2508373)
1989
38
Hereditary hypotrichosis and localized morphea: a new clinical entity. (3774654)
1986
39
The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. (6177160)
1981
40
An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations. (7304669)
1981
41
Hereditary hypotrichosis. A previously undescribed syndrome. (508598)
1979
42
Pathological changes in congenital hypotrichosis in Hereford cattle. (119384)
1979
43
Congenital hypotrichosis--for diagnosis. (698084)
1978
44
Hereditary hypotrichosis (Marie-Unna type) (two cases). (1202498)
1975
45
Hypotrichosis congenita hereditaria (Marie Unna). (4831965)
1974
46
Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. (4281327)
1971
47
Hereditary hypotrichosis congenita: Marie Unna type. (5479303)
1970
48
Congenital generalized melanoleucoderma associated with hypodontia, hypotrichosis, stunted growth and mental retardation occurring in two brothers and two sisters. (13867923)
1961
49
A new syndrome; dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract. (13582329)
1958
50
A case of dyscephalia with congenital cataract and hypotrichosis. (13388251)
1956

Genetic Variations for Hypotrichosis

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Expression for genes affiliated with Hypotrichosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypotrichosis

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Pathways for genes affiliated with Hypotrichosis

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Compounds for genes affiliated with Hypotrichosis

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59Tocris Bioscience, 28IUPHAR, 24HMDB, 44Novoseek, 11DrugBank
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Compounds related to Hypotrichosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx5910.4GJB4, GJB3
2gap 275910.4GJB3, GJB4
3carbenoxolone disodium5910.3GJB3, GJB4
4scrambled 10panx5910.3GJB3, GJB4
5ca2+2810.3GJB4, GJB3
6octanol28 2411.2GJB4, GJB3
7carbenoxolone28 44 1112.0GJB4, GJB3

GO Terms for genes affiliated with Hypotrichosis

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16Gene Ontology
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Cellular components related to Hypotrichosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1desmosomeGO:03005710.3CDSN, DSG4
2gap junctionGO:00592110.2GJB4, GJB3
3connexon complexGO:00592210.0GJB4, GJB3

Biological processes related to Hypotrichosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hair follicle developmentGO:00194210.3APCDD1, SOX18

Molecular functions related to Hypotrichosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00524310.3GJB4, GJB3

Products for genes affiliated with Hypotrichosis

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  • Antibodies
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Sources for Hypotrichosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet