Hypotrichosis disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

MCID: HYP087 MIFTS: 43	Hypotrichosis malady
53 genes, 3 tissues, 264 related diseases, clinical trials.

Summaries for Hypotrichosis

Sources:
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

Sources:
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

OMIM⁴⁶ 607903, 613981, 146550 146520, 601553, 604379, 278150, 605389, more

SNOMED-CT⁵⁶ 53602002

NCIt³⁹ C34720

MeSH³⁴ D007039

UMLS⁶⁰ C0020678

Related Diseases for Hypotrichosis

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

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)

id	Related Disease	Score	Top Affiliating Genes
1	monilethrix	30.2	KRT83, DSG4, LIPH
2	ichthyosis with hypotrichosis	30.1	ST14
3	alopecia	30.1	HR
4	alopecia universalis	29.6	HR
5	clouston syndrome	29.6	GJB3, GJB4
6	skin disease	29.6	GJB4, GJB3, CDH3, CDSN
7	autosomal recessive hypotrichosis	10.5
8	hypotrichosis simplex	10.3
9	juvenile macular degeneration and hypotrichosis	10.3
10	metaphyseal dysplasia without hypotrichosis	10.3
11	hypotrichosis simplex of scalp 1	10.3
12	hypotrichosis 8	10.3
13	marie unna congenital hypotrichosis	10.2
14	hypotrichosis-lymphedema-telangiectasia syndrome	10.2
15	woolly hair hypotrichosis everted lower lip and outstanding ears	10.2
16	spondyloepimetaphyseal dysplasia with hypotrichosis	10.2
17	ichthyosis with hypotrichosis, autosomal recessive	10.2
18	hypotrichosis, hereditary, marie unna type, 1	10.2
19	hypotrichosis simplex of the scalp 2	10.2
20	hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	10.2
21	total hypotrichosis, mari type	10.2
22	hypotrichosis 11	10.2
23	anodontia	10.1
24	basal cell carcinoma	10.1
25	cartilage-hair hypoplasia	10.1
26	hypotrichosis of eyelid	10.1
27	hallermann-streiff syndrome	10.1
28	lymphedema	10.1
29	brachymetapody anodontia hypotrichosis albinoidism	10.1
30	localized autosomal recessive hypotrichosis	10.1
31	schopf-schulz-passarge syndrome	10.1
32	hypohidrosis	10.0
33	follicular basal cell carcinoma	10.0
34	roberts syndrome	10.0
35	cataract	10.0
36	keratosis	10.0
37	congenital hypotrichosis milia	10.0
38	leukomelanoderma mental redardation hypotrichosis	10.0
39	ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant	10.0
40	short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	10.0
41	hypotrichosis and recurrent skin vesicles	10.0
42	erythrokeratodermia variabilis	10.0	GJB4, GJB3
43	trichorhinophalangeal syndrome type i	9.9
44	netherton syndrome	9.9
45	syndactyly	9.9
46	sc phocomelia syndrome	9.9
47	cleft palate	9.9
48	ackerman syndrome	9.9
49	bazex-dupre-christol syndrome	9.9
50	thumb deformity, alopecia, pigmentation anomaly	9.9

Graphical network of the top 20 diseases related to Hypotrichosis:

Clinical Features for Hypotrichosis

Sources:
⁴⁶OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Hypotrichosis

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

Search CenterWatch for Hypotrichosis

Drug clinical trials:

Search ClinicalTrials for Hypotrichosis

Search NIH Clinical Center for Hypotrichosis

Search CenterWatch for Hypotrichosis

Genetic Tests for Hypotrichosis

Anatomical Context for Hypotrichosis

Sources:
³²MalaCards
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MalaCards organs/tissues related to Hypotrichosis:

³²

Skin, Bone, Thyroid

Animal Models for Hypotrichosis or affiliated genes

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Hypotrichosis:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument phenotype	MP:0010771	9.8	HR, GJB3, CDH3, CDSN, DSG4, LIPH

Publications for Hypotrichosis

Sources:
⁵⁰PubMed
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Articles related to Hypotrichosis:

(show top 50) (show all 238)

id	Title	Authors	Year
1	Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review. (24261346)	Yang J.... Zheng M.	2013
2	Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy. (23143461)	Halford S.... Downes S.M.	2012
3	A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. (22592156)	Fujimoto A.... Shimomura Y.	2012
4	Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. (20814945)	Mansur A.T.... Akarsu N.A.	2010
5	A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. (19751230)	Xu C.... Song H.D.	2010
6	APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. (20393562)	Shimomura Y.... Christiano A.M.	2010
7	Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. (19262606)	Shimomura Y.... Christiano A.M.	2009
8	Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis. (20055871)	DA1zenli S.... Betz R.C.	2009
9	A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2). (18795930)	Kamran-ul-Hassan Naqvi S.... Ahmad W.	2009
10	A novel U2HR non-synonymous mutation in a Chinese patient with Marie Unna Hereditary Hypotrichosis. (19540091)	Cai L.Q.... Zhang X.J.	2009
11	Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. (19766349)	Horev L.... Zlotogorski A.	2009
12	Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). (19167195)	Naz G.... Ahmad W.	2009
13	A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). (18445047)	Jelani M.... Ahmad W.	2008
14	Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. (18692127)	Petukhova L.... Christiano A.M.	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)	Wajid M.... Christiano A.M.	2007
16	Recessive autosomal ichthyosis with hypotrichosis with mutation in the ST14 gene]. (17978729)	Dereure O.	2007
17	Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion. (17001671)	Kantaputra P.N.... Praphanphoj V.	2006
18	An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. (16575393)	Zlotogorski A.... Pras E.	2006
19	Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings. (16120155)	Indelman M.... Sprecher E.	2005
20	A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. (15191570)	Rafiq M.A.... Ahmad W.	2004
21	Congenital hypotrichosis in a white-tailed deer fawn from South Dakota. (15137504)	Zimmerman T.J.... Morlock W.W.	2004
22	Hypotrichosis, long eyelashes and atopic dermatitis: a new syndrome? (15096163)	Alpsoy E.	2004
23	Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. (12740761)	Irrthum A.... Vikkula M.	2003
24	New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. (12207605)	Van Steensel M.A.... Steijlen P.M.	2002
25	Guess what! Hypotrichosis simplex. (11458928)	Poyanmehr S.... Hoffmann R.	2001
26	Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. (11544476)	Sprecher E.... Szargel R.	2001
27	Guess what! Hypotrichosis congenita of Marie Unna: comment. (11458926)	Niiyama S.... Hoffmann R.	2001
28	Marie Unna hypotrichosis in an Asian family. (11349466)	Kim H.S.... Lee W.S.	2001
29	Total hypotrichosis: genetic form of alopecia not linked to hairless gene. (10509509)	Rogaev E.I.... Ginter E.K.	1999
30	A sporadic case of congenital hypotrichosis simplex of the scalp: difficulties in diagnosis and classification. (10469417)	Cambiaghi S.... Barbareschi M.	1999
31	Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? (9450882)	Lestringant G.G.... Happle R.	1998
32	Multiple follicular hamartomas with sweat gland and sebaceous differentiation, vermiculate atrophoderma, milia, hypotrichosis, and late development of multiple basal cell carcinomas. (9810915)	Pujol R.M.... de Moragas J.M.	1998
33	Hypotrichosis, hair structure defects, hypercysteine hair and glucosuria: a new genetic syndrome? (8746349)	Blume-Peytavi U.... Orfanos C.E.	1996
34	Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome? (7577599)	BaA9aran E.... Yilmaz G.G.	1995
35	Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome. (2363424)	Whyte M.P.... McAlister W.H.	1990
36	Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. (2277385)	Verloes A.... Maroteaux P.	1990
37	Pathological studies of cross-related congenital hypotrichosis in cattle. (2508373)	Ayers J.R.... Cole D.	1989
38	Hereditary hypotrichosis and localized morphea: a new clinical entity. (3774654)	Kulin P.... Sybert V.P.	1986
39	The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. (6177160)	MichaAlsson G.... Westermark P.	1981
40	An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations. (7304669)	Alves A.F.... Freire-Maia N.	1981
41	Hereditary hypotrichosis. A previously undescribed syndrome. (508598)	Bentley-Phillips B.... Grace H.J.	1979
42	Pathological changes in congenital hypotrichosis in Hereford cattle. (119384)	Jayasekara M.U.... Cook J.E.	1979
43	Congenital hypotrichosis--for diagnosis. (698084)	Cheesbrough M.J.	1978
44	Hereditary hypotrichosis (Marie-Unna type) (two cases). (1202498)	Hutchinson P.E.... Wells R.S.	1975
45	Hypotrichosis congenita hereditaria (Marie Unna). (4831965)	Wakkers-Garritsen B.G.	1974
46	Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. (4281327)	SchAPpf E.... Passarge E.	1971
47	Hereditary hypotrichosis congenita: Marie Unna type. (5479303)	StevanoviA8 D.V.	1970
48	Congenital generalized melanoleucoderma associated with hypodontia, hypotrichosis, stunted growth and mental retardation occurring in two brothers and two sisters. (13867923)	Berlin C.	1961
49	A new syndrome; dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract. (13582329)	Francois J.	1958
50	A case of dyscephalia with congenital cataract and hypotrichosis. (13388251)	LEFFERTSTRA L.J.	1956

Genes related to Hypotrichosis

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc.
See all sources

Genes related to Hypotrichosis:

(show top 50) (show all 53)

id	Symbol	Description	Score	Implication
1	DSG4	desmoglein 4	20.22	GeneCards inferred : Publications, Disorders, Summaries (show sections)
2	SOX18	SRY (sex determining region Y)-box 18	19.84	GeneCards inferred : Publications, Disorders, Summaries (show sections)
3	HR	hair growth associated	19.46	GeneCards inferred : Publications, Disorders, Summaries (show sections)
4	APCDD1	adenomatosis polyposis coli down-regulated 1	19.08	GeneCards inferred : Publications, Disorders, Summaries (show sections)
5	CDH3	cadherin 3, type 1, P-cadherin (placental)	18.71	GeneCards inferred : Publications, Disorders, Summaries (show sections)
6	POC1A	POC1 centriolar protein A	18.33	GeneCards inferred : Publications, Disorders, Summaries (show sections)
7	LIPH	lipase, member H	17.94	GeneCards inferred : Publications, Disorders (show sections)
8	LPAR6	lysophosphatidic acid receptor 6	17.56	GeneCards inferred : Publications, Disorders (show sections)
9	KRT83	keratin 83	17.17	GeneCards inferred : Publications, Disorders (show sections)
10	CDSN	corneodesmosin	16.79	GeneCards inferred : Publications, Disorders (show sections)
11	ST14	suppression of tumorigenicity 14 (colon carcinoma)	16.42	GeneCards inferred : Publications, Disorders (show sections)
12	RMRP	RNA component of mitochondrial RNA processing endoribonuclease	16.03	GeneCards inferred : Disorders (show sections)
13	KRT74	keratin 74	15.66	GeneCards inferred : Publications, Disorders (show sections)
14	PRSS8	protease, serine, 8	15.28	GeneCards inferred : Publications, Disorders (show sections)
15	GJB3	gap junction protein, beta 3, 31kDa	14.90	GeneCards inferred : Publications, Disorders (show sections)
16	GJB4	gap junction protein, beta 4, 30.3kDa	14.52	GeneCards inferred : Publications, Disorders (show sections)
17	HMU	Hypotrichosis, Marie Unna type	14.17	GeneCards inferred : Publications, Disorders, Gene name (show sections)
18	HYPT9	Hypotrichosis 9	13.79	GeneCards inferred : Disorders, Gene name (show sections)
19	HYP10	Hypotrichosis 10	13.41	GeneCards inferred : Disorders, Gene name (show sections)
20	MUHH2	Hypotrichosis, hereditary, Marie Unna type, 2	13.04	GeneCards inferred : Gene name, Disorders (show sections)
21	TMPRSS11A	transmembrane protease, serine 11A	12.64	GeneCards inferred : Publications, Disorders (show sections)
22	RPL21	ribosomal protein L21	12.26	GeneCards inferred : Publications, Disorders (show sections)
23	GJB2	gap junction protein, beta 2, 26kDa	11.88	GeneCards inferred : Publications, Disorders (show sections)
24	WNT3A	wingless-type MMTV integration site family, member 3A	11.50	GeneCards inferred : Publications, Disorders (show sections)
25	DSC3	desmocollin 3	11.13	GeneCards inferred : Publications, Disorders (show sections)
26	LRP5	low density lipoprotein receptor-related protein 5	10.75	GeneCards inferred : Publications, Disorders (show sections)
27	FGF17	fibroblast growth factor 17	10.36	GeneCards inferred : Publications, Disorders (show sections)
28	KRT71	keratin 71	9.99	GeneCards inferred : Publications, Disorders (show sections)
29	FOXC2	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	9.61	GeneCards inferred : Publications, Disorders (show sections)
30	KRT86	keratin 86	9.23	GeneCards inferred : Publications, Disorders (show sections)
31	KRT85	keratin 85	8.85	GeneCards inferred : Disorders (show sections)
32	FAM160B2	family with sequence similarity 160, member B2	8.48	GeneCards inferred : Publications, Disorders (show sections)
33	WNT10A	wingless-type MMTV integration site family, member 10A	8.10	GeneCards inferred : Disorders (show sections)
34	PLEKHG7	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	7.72	GeneCards inferred : Disorders (show sections)
35	CLDN1	claudin 1	7.34	GeneCards inferred : Disorders (show sections)
36	SNRPE	small nuclear ribonucleoprotein polypeptide E	6.97	GeneCards inferred : Publications, Disorders (show sections)
37	CTSC	cathepsin C	6.59	GeneCards inferred : Publications, Disorders (show sections)
38	FLG	filaggrin	6.21	GeneCards inferred : Publications, Disorders (show sections)
39	VEZT	vezatin, adherens junctions transmembrane protein	5.83	GeneCards inferred : Disorders (show sections)
40	FLT4	fms-related tyrosine kinase 4	5.46	GeneCards inferred : Publications, Disorders (show sections)
41	DSPP	dentin sialophosphoprotein	5.08	GeneCards inferred : Publications, Disorders (show sections)
42	GJA1	gap junction protein, alpha 1, 43kDa	4.70	GeneCards inferred : Disorders (show sections)
43	EDAR	ectodysplasin A receptor	4.33	GeneCards inferred : Disorders (show sections)
44	EDARADD	EDAR-associated death domain	3.95	GeneCards inferred : Disorders (show sections)
45	NME1	NME/NM23 nucleoside diphosphate kinase 1	3.57	GeneCards inferred : Disorders (show sections)
46	EDA	ectodysplasin A	3.19	GeneCards inferred : Disorders (show sections)
47	ENSG00000137197		2.66	GeneCards inferred : Publications (show sections)
48	ENSG00000237165		2.28	GeneCards inferred : Publications (show sections)
49	ENSG00000237123		1.90	GeneCards inferred : Publications (show sections)
50	ENSG00000237114		1.52	GeneCards inferred : Publications (show sections)

Products for genes related to Hypotrichosis disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	33	33	37
2	LSBio	-	-	50

Genetic Variations for Hypotrichosis

Expression for genes affiliated with Hypotrichosis

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

Search GEO for disease gene expression data for Hypotrichosis.

Pathways for genes affiliated with Hypotrichosis

Compounds for genes affiliated with Hypotrichosis

Sources:
⁵⁹Tocris Bioscience, ²⁸IUPHAR, ²⁴HMDB, ⁴⁴Novoseek, ¹¹DrugBank
See all sources

Compounds related to Hypotrichosis according to GeneCards/GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	10panx⁵⁹	10.4	GJB4, GJB3
2	gap 27⁵⁹	10.4	GJB3, GJB4
3	carbenoxolone disodium⁵⁹	10.3	GJB3, GJB4
4	scrambled 10panx⁵⁹	10.3	GJB3, GJB4
5	ca²⁺²⁸	10.3	GJB4, GJB3
6	octanol²⁸ ²⁴	11.2	GJB4, GJB3
7	carbenoxolone²⁸ ⁴⁴ ¹¹	12.0	GJB4, GJB3