Localized Autosomal Recessive Hypotrichosis malady

MalaCards: Localized Autosomal Recessive Hypotrichosis, also known as hypotrichosis, localized, autosomal recessive, is related to hypotrichosis and monilethrix. An important gene associated with Localized Autosomal Recessive Hypotrichosis is DSG4 (desmoglein 4).

OMIM: 607903

localized autosomal recessive hypotrichosis 16 hypotrichosis, localized, autosomal recessive 33 32 hypotrichosis, localized, autosomal recessive, 2 43

hypotrichosis, localized, autosomal recessive 1 43 hypotrichosis 43 lah 16

Disease types for localized autosomal recessive hypotrichosis family:

hypotrichosis, localized, autosomal recessive, 3	hypotrichosis, localized, autosomal recessive 2

Diseases related to localized autosomal recessive hypotrichosis by text searches and GeneDecks gene sharing:

(show all 46)

id	Related Disease	Score	Top Affiliating Genes
1	hypotrichosis	32.9	KRT83, DSG4
2	monilethrix	30.3	KRT83, DSG4
3	hypotrichosis simplex	8.7
4	hypotrichosis, localized, autosomal recessive, 3	8.4
5	macular dystrophy	7.6
6	hypotrichosis simplex of scalp	7.6
7	ichthyosis with hypotrichosis	7.6
8	hypotrichosis, localized, autosomal recessive 2	7.5
9	hypotrichosis-lymphedema-telangiectasia syndrome	7.4
10	ichthyosis	7.4
11	metaphyseal dysplasia without hypotrichosis	7.4
12	hypotrichosis of eyelid	7.1
13	juvenile macular degeneration and hypotrichosis	7.1
14	marie unna congenital hypotrichosis	7.1
15	hypotrichosis and recurrent skin vesicles	6.8
16	brachymetapody anodontia hypotrichosis albinoidism	6.5
17	hypotrichosis, hereditary, marie unna type, 1	6.5
18	hypotrichosis, hereditary, marie unna type, 2	6.5
19	ichthyosis with hypotrichosis, autosomal recessive	6.5
20	total hypotrichosis, mari type	6.5
21	roberts syndrome	5.9
22	spondyloepimetaphyseal dysplasia with hypotrichosis	5.9
23	woolly hair hypotrichosis everted lower lip and outstanding ears	5.9
24	woolly hair, autosomal recessive 2 with or without hypotrichosis	5.9
25	congenital hypotrichosis milia	5.9
26	cartilage-hair hypoplasia	5.9
27	leukomelanoderma mental redardation hypotrichosis	5.9
28	pemphigus	5.0
29	pemphigus vulgaris	5.0
30	periodontitis	5.0
31	rombo syndrome	5.0
32	ackerman syndrome	5.0
33	sc phocomelia syndrome	5.0
34	arthrogryposis and ectodermal dysplasia	5.0
35	strabismus	5.0
36	basaran yilmaz syndrome	5.0
37	thumb deformity, alopecia, pigmentation anomaly	5.0
38	bazex-dupre-christol syndrome	5.0
39	cleft palate	5.0
40	ectodermal dysplasia, pure hair-nail type	5.0
41	hypodontia	5.0
42	ichthyosis, follicular	5.0
43	keratoderma	5.0
44	lelis syndrome	5.0
45	lymphedema	5.0
46	osteolysis	5.0

Clinical features from OMIM: 607903

Approved drugs:

Drug clinical trials:

Genetic tests related to localized autosomal recessive hypotrichosis:

id	Genetic test	Affiliating Genes
1	Localized Autosomal Recessive Hypotrichosis clinical/research	DSG4

Articles related to localized autosomal recessive hypotrichosis:

id	Title	Authors	Year	Affiliating Genes
1	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	DSG4
2	Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (16543896)	Schaffer J.V.... Christiano A.M.	2006	DSG4
3	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	DSG4, KRT83
4	A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. (16297213)	Messenger A.G.... Christiano A.M.	2005	DSG4
5	Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. (16382669)	Bazzi H.... Christiano A.M.	2005	DSG4
6	A recurrent intragenic deletion in the desmoglein 4 g ene underlies localized autosomal recessive hypotrichosis. (15304105)	Moss C.... Christiano A.M.	2004	DSG4

Genes related to localized autosomal recessive hypotrichosis according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	DSG4	desmoglein 4	11.1	Publications, Summaries
2	KRT83	keratin 83	11.0	Publications