Monilethrix malady

Genetics Home Reference: Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Noticeable when viewed under a microscope, the beaded appearance is due to periodic narrowing of the hair shaft. People with monilethrix also have sparse hair growth (hypotrichosis) and short, brittle hair that breaks easily.¹⁷

MalaCards: Monilethrix, also known as nodose hair, is related to localized autosomal recessive hypotrichosis and hypotrichosis. An important gene associated with Monilethrix is KRT86 (keratin 86), and among its related pathways are Cytoskeleton remodeling_Keratin filaments and Cytoskeleton remodeling Keratin filaments. The compounds dithranol and calcipotriol have been mentioned in the context of this disorder. Affiliated tissues include cortex, and related mouse phenotypes are pigmentation and craniofacial.

NIH Rare Diseases: Monilethrix is a rare condition caused by a defect in the hair shaft resulting in hair which appears dry, dull, and brittle, and which breaks spontaneously or with mild trauma.  The age of onset, severity, and course may vary from person to person.³⁰

Wikipedia: Monilethrix (also referred to as \"Beaded hair\") is a rare autosomal dominant hair disease that results...⁴⁴ more...

OMIM: 158000

Aliases & Descriptions:

monilethrix 6 7 30 16 17 8 33 32 nodose hair 30

Diseases related to monilethrix by text searches and GeneDecks gene sharing:

(show all 36)

id	Related Disease	Score	Top Affiliating Genes
1	localized autosomal recessive hypotrichosis	30.0	DSG4, KRT83
2	hypotrichosis	29.8	DSG4, KRT86, KRT83, LIPH
3	hair disease	28.6	KRT86, KRT81
4	steatocystoma multiplex	13.3	KRT17, KRT16
5	pachyonychia congenita type 2	13.2	KRT6B, KRT17
6	epidermolytic palmoplantar keratoderma	13.1	KRT9, KRT16
7	pachyonychia congenita	13.1	KRT6A, KRT16
8	pilomatrixoma	13.0	HOXC13, KRT81, TCHH
9	nonepidermolytic palmoplantar keratoderma	13.0	KRT16, KRTAP11-1
10	epidermolytic hyperkeratosis	13.0	KRT16, KRT86, KRT9
11	triple-a syndrome	13.0	KRT86, KRT81
12	palmoplantar keratosis	12.9	KRT9, KRT17, KRT16
13	median rhomboid glossitis	12.9	KRT6B, KRT6A
14	glossitis	12.8	KRT6B, KRT6A
15	nail disease	12.8	KRT6B, KRT6A, KRT81
16	keratitis	12.7	KRT6B, KRT17, KRT16
17	acanthoma	12.6	KRT16, IVL
18	hereditary mucosal leukokeratosis	12.5	KRTAP11-1, KRT2, KRT6A, KRT86
19	bowen syndrome	12.5	IVL, KRT16, KRT17
20	skin disease	12.5	KRT6A, KRT6B, KRT9
21	ectodermal dysplasia	12.4	KRT6B, KRT17, KRT6A, KRT16
22	keratoacanthoma	12.4	IVL, KRT16, KRT17
23	molluscum contagiosum	12.4	IVL, KRT16
24	trichoepithelioma	12.4	IVL, KRT17
25	contact dermatitis	12.3	KRT17, KRT16, IVL
26	mayer-rokitansky-kuster-hauser syndrome	12.2	KRT16, KRT6A, KRT17, KRT6B
27	congenital ichthyosiform erythroderma	12.0	IVL, KRT2
28	basal cell carcinoma	12.0	TCHH, KRT17, KRT86, KRT16, IVL
29	pharyngitis	11.9	KRT2, KRT6B, KRT6A, KRT81, KRT83, ENSG00000170442
30	ichthyosis	11.6	KRT2, KRT9, KRT17, KRT86, KRT16, IVL
31	alopecia	11.6	TCHH, KRT81, KRT86, KRT16, KRT83, HOXC13
32	epidermolysis bullosa	11.5	KRT2, KRT9, KRT17, KRT6A, IVL
33	keratoderma	11.5	TCHH, KRTAP11-1, KRT9, KRT6B, KRT17, KRT6A
34	keratosis	10.6	TCHH, KRT9, KRT6B, KRT17, KRT6A, KRT81
35	epidermolysis bullosa simplex	10.2	KRTAP11-1, KRT2, KRT9, KRT6B, KRT17, KRT6A
36	carcinoma	9.1	GART, TCHH, KRT2, KRT9, KRT6B, KRT17

Clinical features from OMIM: 158000

Approved drugs:

Drug clinical trials:

Genetic tests related to monilethrix:

id	Genetic test	Affiliating Genes
1	Monilethrix clinical/research	KRT83, KRT86, KRT81

MalaCards organs/tissues related to monilethrix:

²²

MGI Mouse Phenotypes related to monilethrix:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	9.1	LIPH, KRT17, KRT2, DSG4
2	craniofacial phenotype	MP:0005382	8.1	KRT2, KRT6B, KRT17, KRT6A, KRT16, HOXC13
3	integument phenotype	MP:0010771	7.6	LIPH, DSG4, KRT2, KRT6B, KRT17, KRT6A

Articles related to monilethrix:

(show all 21)

id	Title	Authors	Year	Affiliating Genes
1	Mutation E402K of the hHb6 in a Chinese Han family wi th monilethrix. (19505862)	Zhang S.D.... Tian W.	2009	KRT86
2	Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix (18393232)	Feng A.P.... Yang T.	2008	KRT86
3	More than one gene involved in monilethrix: intracellular but also extracellular players. (16702971)	Schweizer J.	2006	DSG4
4	Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. (16439973)	Shimomura Y.... Ito M.	2006	DSG4, KRT83, KRT86
5	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
6	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
7	A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. (15744029)	van Steensel M.A.... van Geel M.	2005	KRT83
8	A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin. (15050877)	Khandpur S.... Bamezai R.	2004	KRT86
9	Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. (12771477)	Muramatsu S.... Ogawa H.	2003	KRT86
10	De novo mutations in monilethrix. (14714571)	Horev L.... Zlotogorski A.	2003	KRT86
11	Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. (12653715)	Djabali K.... Christiano A.M.	2003	KRT86
12	Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6. (10878479)	Horev L.... Zlotogorski A.	2000	KRT86
13	Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6. (10469314)	Winter H.... Schweizer J.	1999	KRT86, ENSG00000170442
14	Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. (10594761)	Pearce E.G.... Bowden P.E.	1999	KRT86, ENSG00000170442
15	Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. (10504448)	Korge B.P.... Munro C.S.	1999	KRT83, KRT86, ENSG00000170442
16	Molecular analysis of an extended Palestinian family from Israel with monilethrix. (11336449)	Oetting W.S.... Reish O.	1999	KRT86
17	A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. (9804356)	Korge B.P.... Traupe H.	1998	KRT86
18	A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1. (9665406)	Winter H.... Schweizer J.	1998	KRT81
19	Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. (9241275)	Winter H.... Schweizer J.	1997	KRT86
20	A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. (9402962)	Winter H.... Schweizer J.	1997	KRT81, KRT86, ENSG00000170442
21	Evidence for genetic heterogeneity in monilethrix. (8941666)	Richard G.... Bale S.J.	1996	IVL, TCHH

Genes related to monilethrix according to GeneCards:

(show all 18)

id	Symbol	Description	Score	GeneCards Section Context
1	KRT86	keratin 86	11.1	Aliases & Descriptions, Summaries, Publications
2	KRT81	keratin 81	11.1	Publications, Summaries
3	KRT83	keratin 83	11.0	Publications
4	DSG4	desmoglein 4	11.0	Publications
5	KRT16	keratin 16	11.0
6	KRT17	keratin 17	11.0
7	ENSG00000170442		11.0	Publications
8	KRTAP11-1	keratin associated protein 11-1	11.0
9	TCHH	trichohyalin	11.0	Publications
10	HOXC13	homeobox C13	11.0
11	KRT9	keratin 9	11.0
12	KRT6B	keratin 6B	11.0
13	KRT2	keratin 2	11.0
14	KRT6A	keratin 6A	11.0
15	BAG4	BCL2-associated athanogene 4	11.0	Disorders
16	IVL	involucrin	11.0	Publications
17	GART	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	11.0
18	LIPH	lipase, member H	11.0

Pathways related to monilethrix according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Cytoskeleton remodeling_Keratin filaments41	9.1	KRT16, KRT6A, KRT17, KRT2
2	Cytoskeleton remodeling Keratin filaments10	8.8	KRT16, KRT6A, KRT17, KRT2

Compounds related to monilethrix according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	dithranol32	9.6	IVL, KRT16
2	calcipotriol32 42 9 9	12.6	IVL, KRT16
3	acitretin32 9 9	11.3	IVL, KRT17
4	sodium dodecylsulfate32	9.3	KRT17, KRT16, IVL
5	retinoid32	9.0	IVL, KRT16, KRT17, KRT2

Cellular components related to monilethrix according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	intermediate filament cytoskeleton	GO:045111	9.5	KRT17, KRT2, TCHH
2	intermediate filament	GO:005882	8.6	KRT2, KRT17, KRT6A, KRT86, KRT16
3	keratin filament	GO:045095	7.9	KRT83, KRTAP11-1, KRT2, KRT9, KRT6B, KRT6A

Biological processes related to monilethrix according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	ectoderm development	GO:007398	9.6	KRT6A, KRT6B
2	epidermis development	GO:008544	8.9	KRT83, KRT16, KRT17, KRT9, KRT2
3	keratinization	GO:031424	8.8	TCHH, KRT2, IVL

Molecular functions related to monilethrix according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	structural molecule activity	GO:005198	8.9	IVL, KRT83, KRT86, KRT81, KRTAP11-1
2	structural constituent of cytoskeleton	GO:005200	8.1	KRT16, KRT2, KRT9, KRT6B, KRT17, KRT6A