Monilethrix disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Monilethrix

MalaCards integrated aliases for Monilethrix:

Name: Monilethrix ⁵⁷ ¹¹ ¹⁹ ⁴² ⁵⁸ ⁷⁵ ⁷³ ¹² ⁵³ ⁴³ ¹⁴ ³⁸

Beaded Hair ⁴² ²⁸ ⁵

Mnlix ⁵⁷ ⁷³

Moniliform Hair Syndrome ⁵⁸

Nodose Hair ¹⁹

Characteristics:

Inheritance:

Autosomal dominant,Autosomal recessive ⁵⁸ , Autosomal dominant ⁵⁷

Age Of Onset:

Infancy,Neonatal ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in infancy
variable severity
genetic heterogeneity
hair regrowth may occur later in life

HPO:

³⁰

monilethrix:
Onset and clinical course variable expressivity

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of integument

Congenital morphological disturbances of hair, not elsewhere classified

Orphanet: ⁵⁸

Rare skin diseases

External Ids:

Disease Ontology ¹¹ DOID:0050472

OMIM® ⁵⁷ 158000

MeSH ⁴³ D056734

NCIt ⁴⁹ C84894

SNOMED-CT ⁶⁸ 69488000

ICD10 ³¹ Q84.1

MESH via Orphanet ⁴⁴ D056734

ICD10 via Orphanet ³² Q84.1

UMLS via Orphanet ⁷² C0546966

Orphanet ⁵⁸ ORPHA573

MedGen ⁴⁰ C0546966

UMLS ⁷¹ C0546966

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Summaries for Monilethrix

OMIM®: ⁵⁷ Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by Zlotogorski et al., 2006). An autosomal recessive form of monilethrix-like congenital hypotrichosis (see 607903) is caused by mutation in the DSG4 gene (607892). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region (Zlotogorski et al., 2006). The term monilethrix derives from the Latin word for necklace and the Greek for hair (Schweizer, 2006). (158000) (Updated 08-Dec-2022)

MalaCards based summary: Monilethrix, also known as beaded hair, is related to hypotrichosis 6 and keratosis. An important gene associated with Monilethrix is KRT83 (Keratin 83), and among its related pathways/superpathways are Nervous system development and Keratinization. Affiliated tissues include skin and cortex, and related phenotypes are abnormality of the nail and abnormal eyelash morphology

MedlinePlus Genetics: ⁴² 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.Affected individuals usually have normal hair at birth, but the hair abnormalities develop within the first few months of life. In mild cases of monilethrix, only hair on the back of the head (occiput) or nape of the neck is affected. In more severe cases, hair over the whole scalp can be affected, as well as pubic hair, underarm hair, eyebrows, eyelashes, or hair on the arms and legs.Occasionally, the skin and nails are involved in monilethrix. Some affected individuals have a skin condition called keratosis pilaris, which causes small bumps on the skin, especially on the scalp, neck, and arms. Affected individuals may also have abnormal fingernails or toenails.

UniProtKB/Swiss-Prot: ⁷³ A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.

GARD: ¹⁹ 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 severity and course may vary from person to person.

Disease Ontology: ¹¹ A hair disease that is characterized by short, easily broken hair that results in alopecia and has material basis in mutations in genes for type II hair cortex keratins.

Orphanet: ⁵⁸ A rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.

Wikipedia: ⁷⁵ Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in... more...

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Related Diseases for Monilethrix

Diseases related to Monilethrix via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)

#	Related Disease	Score	Top Affiliating Genes
1	hypotrichosis 6	32.0	LPAR6 LIPH KRT86 KRT85 KRT83 KRT81
2	keratosis	31.1	KRT86 KRT17 KRT16
3	hypotrichosis 8	31.0	LPAR6 LIPH KRT85 KRT83 KRT74 KRT71
4	hypotrichosis 7	30.3	LPAR6 LIPH KRT74 KRT25 DSG4 CDSN
5	hair disease	30.3	LPAR6 LIPH KRT86 KRT83 KRT81 KRT74
6	hypotrichosis	30.0	LPAR6 LIPH KRT86 KRT83 KRT74 KRT71
7	palmoplantar keratosis	30.0	KRT6B KRT6A KRT17 KRT16
8	skin disease	29.8	KRT6A KRT17 KRT16 DSG4 CDSN
9	alopecia	10.5
10	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.4
11	hypotrichosis 1	10.4	LIPH KRT74
12	helix syndrome	10.3
13	diffuse alopecia areata	10.3	LIPH KRT86
14	mucinoses	10.3	KRT74 KRT71
15	hypotrichosis simplex	10.2	LPAR6 LIPH DSG4
16	epidermoid cysts	10.2	KRT6A KRT17
17	ectodermal dysplasia 6, hair/nail type	10.2	KRT85 KRT74 DSG4
18	ectodermal dysplasia 5, hair/nail type	10.2	KRT85 KRT74 DSG4
19	pachyonychia congenita 2	10.2	KRT6B KRT17 KRT16
20	dermatopathia pigmentosa reticularis	10.2	KRT86 KRT85 KRT83
21	ectodermal dysplasia 9, hair/nail type	10.2	KRT85 KRT74
22	hypotrichosis simplex of the scalp	10.2	KRT74 CDSN
23	median rhomboid glossitis	10.2	KRT6B KRT6A
24	ectodermal dysplasia 7, hair/nail type	10.2	KRT85 KRT74 DSG4
25	woolly hair, autosomal recessive 3	10.2	LPAR6 LIPH KRT25
26	loose anagen hair syndrome	10.2	KRT86 KRT75
27	nonsyndromic congenital nail disorder	10.2	KRT81 KRT74 KRT71
28	ectodermal dysplasia	10.2	KRT85 KRT74 KRT17 KRT16
29	palmoplantar keratoderma, nonepidermolytic	10.2	KRT6A KRT17 KRT16 DSG4
30	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	10.2	DSG4 CDSN
31	nail disorder, nonsyndromic congenital, 4	10.2	KRT81 KRT74 KRT71 KRT17
32	hypotrichosis 3	10.2	LPAR6 LIPH KRT74 KRT71
33	hypotrichosis 4	10.2	LPAR6 LIPH KRT74 KRT71
34	epidermolysis bullosa simplex localized type	10.2	KRT17 KRT16
35	focal palmoplantar keratoderma	10.1	KRT6B KRT6A KRT17 KRT16
36	alopecia areata	10.1
37	ichthyosis	10.1	KRT86 KRT2 KRT17 KRT16
38	hypotrichosis, congenital, with juvenile macular dystrophy	10.1	LPAR6 LIPH DSG4 CDSN
39	glossitis	10.1	KRT6B KRT6A KRT17 KRT16
40	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	10.1	KRT86 KRT85 KRT83 KRT74 KRT71
41	corneal dystrophy	10.1	KRT6A KRT17 KRT16
42	hypertelorism	10.1
43	cataract	10.1
44	erythrokeratoderma ''en cocardes''	10.1
45	hypotrichosis 11	10.1	LPAR6 LIPH KRT74 DSG4 CDSN
46	combined oxidative phosphorylation deficiency 6	10.1	KRT84 KRT82
47	palmoplantar keratoderma, nonepidermolytic, focal or diffuse	10.0	KRT75 KRT6B KRT6A KRT17 KRT16
48	palmoplantar keratoderma, nonepidermolytic, focal 1	10.0	KRT82 KRT6B KRT6A KRT2 KRT16
49	epidermolysis bullosa simplex	10.0	KRT6B KRT6A KRT2 KRT17 KRT16
50	pseudomonilethrix	10.0

Graphical network of the top 20 diseases related to Monilethrix:

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Symptoms & Phenotypes for Monilethrix

Human phenotypes related to Monilethrix:

⁵⁸ ³⁰ (show all 20)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormality of the nail ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001597
2	abnormal eyelash morphology ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000499
3	fine hair ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002213
4	abnormal eyebrow morphology ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000534
5	slow-growing hair ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002217
6	brittle hair ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002299
7	follicular hyperkeratosis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0007502
8	patchy alopecia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002232
9	sparse hair ³⁰	Hallmark (90%)		HP:0008070
10	intellectual disability ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001249
11	cataract ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000518
12	abnormality of the dentition ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000164
13	cognitive impairment ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100543
14	schizophrenia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100753
15	alopecia ³⁰			HP:0001596
16	hypotrichosis ⁵⁸		Very frequent (99-80%)
17	nail dysplasia ³⁰			HP:0002164
18	keratosis pilaris ³⁰			HP:0032152
19	nail dystrophy ³⁰			HP:0008404
20	perifollicular hyperkeratosis ³⁰			HP:0007468

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skin Nails Hair Hair:
hypotrichosis
brittle hair
short hair
beaded hair on microscopy

Skin Nails Hair Nails:
onychodystrophy

Skin Nails Hair Skin:
keratosis pilaris
follicular keratosis

Clinical features from OMIM®:

158000 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Monilethrix according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.14	CDSN DSG4 KRT16 KRT17 KRT2 KRT25
2	no effect	GR00402-S-2	10.14	CDSN KRT17 KRT2 KRT25 KRT6B KRT71

MGI Mouse Phenotypes related to Monilethrix:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument	MP:0010771	9.4	CDSN DSG4 KRT16 KRT17 KRT2 KRT25

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Drugs & Therapeutics for Monilethrix

Search Clinical Trials, NIH Clinical Center for Monilethrix

Cochrane evidence based reviews: monilethrix

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Genetic Tests for Monilethrix

Genetic tests related to Monilethrix:

#	Genetic test	Affiliating Genes
1	Beaded Hair ²⁸	KRT81 KRT83 KRT86

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Anatomical Context for Monilethrix

Organs/tissues related to Monilethrix:

MalaCards : Skin, Cortex

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Publications for Monilethrix

Articles related to Monilethrix:

(show top 50) (show all 219)

#	Title	Authors	PMID	Year
1	Novel KRT83 and KRT86 mutations associated with monilethrix. ⁶² ⁵⁷ ⁵	van Steensel M...van Geel M	25557232	2015
2	Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. ⁶² ⁵⁷ ⁵	Celep F...Karaguzel A	19400537	2009
3	A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. ⁶² ⁵⁷ ⁵	van Steensel MA...van Geel M	15744029	2005
4	A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. ⁶² ⁵⁷ ⁵	Winter H...Schweizer J	10878478	2000
5	A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1. ⁶² ⁵⁷ ⁵	Winter H...Schweizer J	9665406	1998
6	Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. ⁶² ⁵⁷ ⁵	Winter H...Schweizer J	9241275	1997
7	An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. ⁵³ ⁶² ⁵⁷	Zlotogorski A...Pras E	16575393	2006
8	A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin. ⁵³ ⁶² ⁵	Khandpur S...Bamezai R	15050877	2004
9	Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. ⁵³ ⁶² ⁵	Pearce EG...Bowden PE	10594761	1999
10	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. ⁵³ ⁶² ⁵	Winter H...Schweizer J	10469314	1999
11	A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. ⁵³ ⁶² ⁵	Korge BP...Traupe H	9804356	1998
12	More than one gene involved in monilethrix: intracellular but also extracellular players. ⁶² ⁵⁷	Schweizer J	16702971	2006
13	A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. ⁶² ⁵	Winter H...Schweizer J	9402962	1997
14	Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity. ⁶² ⁵⁷	Birch-Machin MA...Rees JL	9349326	1997
15	Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13. ⁶² ⁵⁷	Stevens HP...Leigh IM	8618025	1996
16	A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13. ⁶² ⁵⁷	Healy E...Munro CS	8634717	1995
17	Linkage data on monilethrix. ⁶² ⁵⁷	Renwick JH...Izatt MM	3356162	1988
18	Monilethrix: an ultrastructural study. ⁶² ⁵⁷	Ito M...Yorder FW	6520260	1984
19	The genetic analysis of monilethrix in a large inbred kindred. ⁶² ⁵⁷	Schaap T...Hachman-Zadeh S	7091190	1982
20	Monilethrix. ⁶² ⁵⁷	Bajaj AK...Gupta OP	640105	1978
21	MONILETHRIX: ITS OCCURRENCE IN SEVEN GENERATIONS, WITH ONE CASE THAT RESPONDED TO ENDOCRINE THERAPY. ⁶² ⁵⁷	SOLOMON IL...GREEN OC	14065471	1963
22	[ON INFORMATION ON THE MONILETHRIX SYNDROME]. ⁶² ⁵⁷	HEYDT GE	14046099	1963
23	An investigation of monilethrix. ⁶² ⁵⁷	BAKER H	13864139	1962
24	[On monilethrix]. ⁶² ⁵⁷	SALAMON T...SCHNYDER UW	13991022	1962
25	Monilethrix; report of three cases with family history. ⁶² ⁵⁷	ALEXANDER JO...GRANT PW	13580285	1958
26	MONILETHRIX : A GROUP OF TWENTY-TWO CASES. ⁶² ⁵⁷	Tomkinson JG	20777212	1932
27	Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle. ⁵	Bowden PE...Hodgins MB	9457912	1998
28	Sequence data and chromosomal localization of human type I and type II hair keratin genes. ⁵	Rogers MA...Schweizer J	7556444	1995
29	Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. ⁵³ ⁶²	Bazzi H...Christiano AM	19683850	2009
30	[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. ⁵³ ⁶²	Feng AP...Yang T	18393232	2008
31	Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. ⁵³ ⁶²	Shimomura Y...Ito M	16439973	2006
32	De novo mutations in monilethrix. ⁵³ ⁶²	Horev L...Zlotogorski A	14714571	2003
33	Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. ⁵³ ⁶²	Djabali K...Christiano AM	12653715	2003
34	Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. ⁵³ ⁶²	Muramatsu S...Ogawa H	12771477	2003
35	The molecular genetics of keratin disorders. ⁵³ ⁶²	Smith F	12688839	2003
36	Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. ⁵³ ⁶²	Korge BP...Munro CS	10504448	1999
37	Molecular analysis of an extended Palestinian family from Israel with monilethrix. ⁵³ ⁶²	Oetting WS...Reish O	11336449	1999
38	Gene detection in a family with monilethrix and treatment with 5% topical minoxidil. ⁶²	Shen Q...Wang J	36382623	2022
39	Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families. ⁶²	Zhou C...Zhang J	35146972	2022
40	A new KRT86 mutation in a Chinese family with monilethrix. ⁶²	Li XY...Chen XM	34610158	2022
41	Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness. ⁶²	Antoniali D...Simao JCL	34272078	2021
42	Review of oral minoxidil as treatment of hair disorders: in search of the perfect dose. ⁶²	Villani A...Ocampo-Garza SS	33660357	2021
43	Oral minoxidil treatment for hair loss: A review of efficacy and safety. ⁶²	Randolph M...Tosti A	32622136	2021
44	Nanomechanical properties of Monilethrix affected hair are independent of phenotype. ⁶²	Breakspear S...Popescu C	33309724	2021
45	A Case of Monilethrix with Trichoscopic Changes. ⁶²	Patel DR...Nair PA	33531747	2020
46	Monilethrix. ⁶²	Gomez-Moyano E...Fernandez Ballesteros MD	32446725	2020
47	Low-dose oral minoxidil as treatment for non-scarring alopecia: a systematic review. ⁶²	Sharma AN...Atanaskova Mesinkovska N	32516434	2020
48	Monilethrix: A Report of Three Cases in Children Confirmed with Dermoscopy. ⁶²	Rajamohanan RR...Malathi M	32055512	2020
49	Off-Label Use of Topical Minoxidil in Alopecia: A Review. ⁶²	Stoehr JR...Vanderweil S	30604379	2019
50	Monilethrix: A case report imaged by trichoscopy, reflectance confocal microscopy and histopathology. ⁶²	Castaneda-Yepiz R...Roldan-Marin R	29400908	2018

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Genes for Monilethrix

Genes related to Monilethrix (4 elite genes):

(show all 30)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KRT83	Keratin 83	Protein Coding	1712.92	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	15744029 25557232 16575393 (more) 10504448 16439973
2	KRT86	Keratin 86	Protein Coding	1709.25	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	7556444 9241275 9402962 (more) 9457912 9665406 9804356 10469314 10594761 10878478 15050877 15744029 19400537 22670615 18393232 10504448 12653715 11336449 14714571 12771477 16439973
3	KRT81	Keratin 81	Protein Coding	1684.72	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	7556444 9241275 9402962 (more) 9457912 9665406 9804356 10469314 10594761 10878478 15050877 15744029 19400537
4	DSG4	Desmoglein 4	Protein Coding	396.69	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	16575393 21495994 19683850
5	LPAR6	Lysophosphatidic Acid Receptor 6	Protein Coding	13.48	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
6	KRT16	Keratin 16	Protein Coding	12.34	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12688839
7	KRT17	Keratin 17	Protein Coding	11.73	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12688839
8	KRT74	Keratin 74	Protein Coding	7.13	DISEASES inferred ¹⁴
9	LIPH	Lipase H	Protein Coding	6.93	DISEASES inferred ¹⁴
10	KRT85	Keratin 85	Protein Coding	6.74	DISEASES inferred ¹⁴
11	KRT82	Keratin 82	Protein Coding	6.71	DISEASES inferred ¹⁴
12	KRT71	Keratin 71	Protein Coding	6.68	DISEASES inferred ¹⁴
13	KRT6A	Keratin 6A	Protein Coding	6.36	DISEASES inferred ¹⁴
14	KRT6B	Keratin 6B	Protein Coding	6.2	DISEASES inferred ¹⁴
15	KRT25	Keratin 25	Protein Coding	6.18	DISEASES inferred ¹⁴
16	KRT84	Keratin 84	Protein Coding	6.08	DISEASES inferred ¹⁴
17	KRT2	Keratin 2	Protein Coding	6.02	DISEASES inferred ¹⁴
18	KRT75	Keratin 75	Protein Coding	5.86	DISEASES inferred ¹⁴
19	KRT39	Keratin 39	Protein Coding	5.85	DISEASES inferred ¹⁴
20	CDSN	Corneodesmosin	Protein Coding	5.69	DISEASES inferred ¹⁴
21	KRT33A	Keratin 33A	Protein Coding	5.69	DISEASES inferred ¹⁴
22	VSIG8	V-Set And Immunoglobulin Domain Containing 8	Protein Coding	5.65	DISEASES inferred ¹⁴
23	SNHG28	Small Nucleolar RNA Host Gene 28	RNA Gene	5.59	DISEASES inferred ¹⁴
24	KRT33B	Keratin 33B	Protein Coding	5.56	DISEASES inferred ¹⁴
25	HOXC13	Homeobox C13	Protein Coding	5.4	DISEASES inferred ¹⁴
26	KRT32	Keratin 32	Protein Coding	5.38	DISEASES inferred ¹⁴
27	FOXN1	Forkhead Box N1	Protein Coding	5.33	DISEASES inferred ¹⁴
28	KRTAP3-1	Keratin Associated Protein 3-1	Protein Coding	5.29	DISEASES inferred ¹⁴
29	KRTAP8-1	Keratin Associated Protein 8-1	Protein Coding	5.24	DISEASES inferred ¹⁴
30	LINC00708	Long Intergenic Non-Protein Coding RNA 708	RNA Gene	5.22	DISEASES inferred ¹⁴

Sources

Variations for Monilethrix

ClinVar genetic disease variations for Monilethrix:

⁵ (show top 50) (show all 90)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KRT81, KRT86	NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys)	SNV	Pathogenic	7609	rs121909129	GRCh37: 12:52700054-52700054 GRCh38: 12:52306270-52306270
2	KRT81, KRT86	NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp)	SNV	Pathogenic	7610	rs121909130	GRCh37: 12:52700056-52700056 GRCh38: 12:52306272-52306272
3	KRT81, KRT86	NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys)	SNV	Pathogenic	7611	rs60687604	GRCh37: 12:52700021-52700021 GRCh38: 12:52306237-52306237
4	KRT81, KRT86	NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp)	SNV	Pathogenic	7612	rs61091894	GRCh37: 12:52696040-52696040 GRCh38: 12:52302256-52302256
5	KRT81, KRT86	NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln)	SNV	Pathogenic	7613	rs60687604	GRCh37: 12:52700021-52700021 GRCh38: 12:52306237-52306237
6	KRT81, KRT86	NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu)	SNV	Pathogenic	7614	rs60612575	GRCh37: 12:52696053-52696053 GRCh38: 12:52302269-52302269
7	KRT81, KRT86	NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys)	SNV	Pathogenic	7502	rs56821304	GRCh37: 12:52680929-52680929 GRCh38: 12:52287145-52287145
8	KRT81, KRT86	NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys)	SNV	Pathogenic	7501	rs57419521	GRCh37: 12:52680896-52680896 GRCh38: 12:52287112-52287112
9	KRT83	NM_002282.3(KRT83):c.1252G>A (p.Glu418Lys)	SNV	Pathogenic	446110	rs1438087533	GRCh37: 12:52709687-52709687 GRCh38: 12:52315903-52315903
10	KRT83	NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys)	SNV	Likely Pathogenic	6837	rs57802288	GRCh37: 12:52709720-52709720 GRCh38: 12:52315936-52315936
11	KRT83	NM_002282.3(KRT83):c.828G>A (p.Met276Ile)	SNV	Conflicting Interpretations Of Pathogenicity	880709	rs200274404	GRCh37: 12:52710730-52710730 GRCh38: 12:52316946-52316946
12	KRT81, KRT86	NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter)	SNV	Conflicting Interpretations Of Pathogenicity	561048	rs138597671	GRCh37: 12:52681822-52681822 GRCh38: 12:52288038-52288038
13	KRT83	NM_002282.3(KRT83):c.260C>T (p.Ser87Leu)	SNV	Uncertain Significance	884067	rs538643123	GRCh37: 12:52714860-52714860 GRCh38: 12:52321076-52321076
14	KRT83	NM_002282.3(KRT83):c.*102T>G	SNV	Uncertain Significance	880639	rs955581900	GRCh37: 12:52708313-52708313 GRCh38: 12:52314529-52314529
15	KRT83	NM_002282.3(KRT83):c.*60C>A	SNV	Uncertain Significance	880640	rs1938655369	GRCh37: 12:52708355-52708355 GRCh38: 12:52314571-52314571
16	KRT83	NM_002282.3(KRT83):c.1425C>T (p.Pro475=)	SNV	Uncertain Significance	880641	rs757638030	GRCh37: 12:52708472-52708472 GRCh38: 12:52314688-52314688
17	KRT83	NM_002282.3(KRT83):c.-58C>A	SNV	Uncertain Significance	880774	rs573598308	GRCh37: 12:52715177-52715177 GRCh38: 12:52321393-52321393
18	KRT83	NM_002282.3(KRT83):c.1356G>A (p.Pro452=)	SNV	Uncertain Significance	882052	rs764238442	GRCh37: 12:52708541-52708541 GRCh38: 12:52314757-52314757
19	KRT83	NM_002282.3(KRT83):c.*268A>C	SNV	Uncertain Significance	883919	rs777492822	GRCh37: 12:52708147-52708147 GRCh38: 12:52314363-52314363
20	KRT83	NM_002282.3(KRT83):c.*135C>T	SNV	Uncertain Significance	883920	rs956056629	GRCh37: 12:52708280-52708280 GRCh38: 12:52314496-52314496
21	KRT83	NM_002282.3(KRT83):c.*225C>T	SNV	Uncertain Significance	309487	rs886049620	GRCh37: 12:52708190-52708190 GRCh38: 12:52314406-52314406
22	KRT83	NM_002282.3(KRT83):c.173G>C (p.Gly58Ala)	SNV	Uncertain Significance	309543	rs776629118	GRCh37: 12:52714947-52714947 GRCh38: 12:52321163-52321163
23	KRT83	NM_002282.3(KRT83):c.1014A>G (p.Thr338=)	SNV	Uncertain Significance	309510	rs202206430	GRCh37: 12:52710279-52710279 GRCh38: 12:52316495-52316495
24	KRT83	NM_002282.3(KRT83):c.502C>T (p.Arg168Trp)	SNV	Uncertain Significance	309532	rs778964859	GRCh37: 12:52713031-52713031 GRCh38: 12:52319247-52319247
25	KRT83	NM_002282.3(KRT83):c.184G>A (p.Gly62Ser)	SNV	Uncertain Significance	309541	rs749653752	GRCh37: 12:52714936-52714936 GRCh38: 12:52321152-52321152
26	KRT83	NM_002282.3(KRT83):c.83G>T (p.Ser28Ile)	SNV	Uncertain Significance	309545	rs886049622	GRCh37: 12:52715037-52715037 GRCh38: 12:52321253-52321253
27	KRT83	NM_002282.3(KRT83):c.183C>T (p.Ala61=)	SNV	Uncertain Significance	309542	rs755364196	GRCh37: 12:52714937-52714937 GRCh38: 12:52321153-52321153
28	KRT83	NM_002282.3(KRT83):c.485G>T (p.Gly162Val)	SNV	Uncertain Significance	309534	rs140783754	GRCh37: 12:52713048-52713048 GRCh38: 12:52319264-52319264
29	KRT83	NM_002282.3(KRT83):c.514G>A (p.Glu172Lys)	SNV	Uncertain Significance	309531	rs140443749	GRCh37: 12:52713019-52713019 GRCh38: 12:52319235-52319235
30	KRT83	NM_002282.3(KRT83):c.*44C>T	SNV	Uncertain Significance	309492	rs186532103	GRCh37: 12:52708371-52708371 GRCh38: 12:52314587-52314587
31	KRT83	NM_002282.3(KRT83):c.815G>A (p.Arg272Gln)	SNV	Uncertain Significance	309518	rs369510264	GRCh37: 12:52710743-52710743 GRCh38: 12:52316959-52316959
32	KRT83	NM_002282.3(KRT83):c.*107T>G	SNV	Uncertain Significance	309491	rs771547026	GRCh37: 12:52708308-52708308 GRCh38: 12:52314524-52314524
33	KRT83	NM_002282.3(KRT83):c.891G>C (p.Glu297Asp)	SNV	Uncertain Significance	309514	rs886049621	GRCh37: 12:52710667-52710667 GRCh38: 12:52316883-52316883
34	KRT83	NM_002282.3(KRT83):c.1398G>A (p.Leu466=)	SNV	Uncertain Significance	309497	rs748151673	GRCh37: 12:52708499-52708499 GRCh38: 12:52314715-52314715
35	KRT83	NM_002282.3(KRT83):c.1018G>A (p.Glu340Lys)	SNV	Likely Benign	309508	rs553152302	GRCh37: 12:52710275-52710275 GRCh38: 12:52316491-52316491
36	KRT83	NM_002282.3(KRT83):c.206_207del	DEL	Likely Benign	309488	rs377671303	GRCh37: 12:52708208-52708209 GRCh38: 12:52314424-52314425
37	KRT83	NM_002282.3(KRT83):c.310G>A (p.Ala104Thr)	SNV	Likely Benign	309540	rs779172264	GRCh37: 12:52714810-52714810 GRCh38: 12:52321026-52321026
38	KRT83	NM_002282.3(KRT83):c.957C>A (p.Thr319=)	SNV	Likely Benign	309512	rs755719932	GRCh37: 12:52710336-52710336 GRCh38: 12:52316552-52316552
39	KRT83	NM_002282.3(KRT83):c.599AAG[2] (p.Glu202del)	MICROSAT	Likely Benign	309528	rs149269323	GRCh37: 12:52711741-52711743 GRCh38: 12:52317957-52317959
40	KRT83	NM_002282.3(KRT83):c.666C>A (p.Cys222Ter)	SNV	Likely Benign	309526	rs2857667	GRCh37: 12:52711549-52711549 GRCh38: 12:52317765-52317765
41	KRT83	NM_002282.3(KRT83):c.667G>A (p.Ala223Thr)	SNV	Likely Benign	309524	rs149581248	GRCh37: 12:52711548-52711548 GRCh38: 12:52317764-52317764
42	KRT83	NM_002282.3(KRT83):c.1302C>A (p.Ser434Arg)	SNV	Likely Benign	882054	rs373203286	GRCh37: 12:52708595-52708595 GRCh38: 12:52314811-52314811
43	KRT83	NM_002282.3(KRT83):c.328GAG[1] (p.Glu111del)	MICROSAT	Likely Benign	309538	rs563212614	GRCh37: 12:52714787-52714789 GRCh38: 12:52321003-52321005
44	KRT83	NM_002282.3(KRT83):c.768A>G (p.Gln256=)	SNV	Benign	309519	rs143202217	GRCh37: 12:52710790-52710790 GRCh38: 12:52317006-52317006
45	KRT83	NM_002282.3(KRT83):c.790G>A (p.Val264Met)	SNV	Benign	880710	rs201459857	GRCh37: 12:52710768-52710768 GRCh38: 12:52316984-52316984
46	KRT83	NM_002282.3(KRT83):c.520G>C (p.Val174Leu)	SNV	Benign	883255	rs181439241	GRCh37: 12:52713013-52713013 GRCh38: 12:52319229-52319229
47	KRT83	NM_002282.3(KRT83):c.1327G>A (p.Gly443Arg)	SNV	Benign	882053	rs144061807	GRCh37: 12:52708570-52708570 GRCh38: 12:52314786-52314786
48	KRT83	NM_002282.3(KRT83):c.945G>A (p.Arg315=)	SNV	Benign	883999	rs138807826	GRCh37: 12:52710348-52710348 GRCh38: 12:52316564-52316564
49	KRT83	NM_002282.3(KRT83):c.389G>A (p.Arg130His)	SNV	Benign	884065	rs139360978	GRCh37: 12:52713144-52713144 GRCh38: 12:52319360-52319360
50	KRT83	NM_002282.3(KRT83):c.363A>G (p.Arg121=)	SNV	Benign	884066	rs571144595	GRCh37: 12:52714757-52714757 GRCh38: 12:52320973-52320973

UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:

⁷³ (show all 13)

#	Symbol	AA change	Variation ID	SNP ID
1	KRT81	p.Glu402Lys	VAR_018116	rs56821304
2	KRT81	p.Glu413Lys	VAR_018117	rs57419521
3	KRT81	p.Arg408Cys	VAR_073048	rs771393943
4	KRT83	p.Glu407Lys	VAR_023052	rs57802288
5	KRT83	p.Glu418Lys	VAR_073049	rs1438087533
6	KRT86	p.Asn114Asp	VAR_018125	rs61091894
7	KRT86	p.Glu402Gln	VAR_018126	rs60687604
8	KRT86	p.Glu402Lys	VAR_018127	rs60687604
9	KRT86	p.Glu413Lys	VAR_018128	rs121909129
10	KRT86	p.Glu413Asp	VAR_018129	rs121909130
11	KRT86	p.Asn114His	VAR_023053	rs61091894
12	KRT86	p.Leu409Pro	VAR_073050
13	KRT86	p.Leu410Pro	VAR_073051

Sources

Expression for Monilethrix

Search GEO for disease gene expression data for Monilethrix.

Sources

Pathways for Monilethrix

Pathways related to Monilethrix according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.27	KRT86 KRT85 KRT84 KRT83 KRT82 KRT81
2	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	12.12	KRT86 KRT85 KRT84 KRT83 KRT82 KRT81
3	COPI-independent Golgi-to-ER retrograde traffic ⁶⁶ Show member pathways Cell cycle Spindle assembly and chromosome separation ²² Cytoskeleton remodeling Keratin filaments ²² Cytoskeleton remodeling Neurofilaments ²² HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand ⁶⁶	11.95	KRT6A KRT2 KRT17 KRT16

Sources

GO Terms for Monilethrix

Cellular components related to Monilethrix according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:0005829	10.46	KRT86 KRT85 KRT84 KRT83 KRT82 KRT81
2	intermediate filament	GO:0005882	9.96	KRT16 KRT17 KRT2 KRT25 KRT39 KRT6A
3	cornified envelope	GO:0001533	9.9	CDSN DSG4 KRT16 KRT17 KRT2 KRT75
4	keratin filament	GO:0045095	9.77	KRT17 KRT2 KRT25 KRT6A KRT6B KRT71

Biological processes related to Monilethrix according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	intermediate filament organization	GO:0045109	10.16	KRT16 KRT17 KRT2 KRT25 KRT39 KRT6A
2	epithelial cell differentiation	GO:0030855	9.93	KRT39 KRT17 KRT16
3	epidermis development	GO:0008544	9.87	KRT85 KRT83 KRT2 CDSN
4	hair follicle morphogenesis	GO:0031069	9.85	KRT71 KRT25 KRT17
5	keratinocyte differentiation	GO:0030216	9.83	KRT16 DSG4 CDSN
6	keratinization	GO:0031424	9.77	KRT16 KRT17 KRT2 KRT6A KRT6B KRT71
7	keratinocyte migration	GO:0051546	9.71	KRT2 KRT16
8	morphogenesis of an epithelium	GO:0002009	9.65	KRT6A KRT17 KRT16
9	hair cycle	GO:0042633	9.63	KRT16 KRT25 KRT83

Molecular functions related to Monilethrix according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of cytoskeleton	GO:0005200	9.85	KRT84 KRT6B KRT6A KRT2 KRT16
2	structural molecule activity	GO:0005198	9.7	KRT85 KRT75 KRT39 KRT25 KRT17 KRT16
3	structural constituent of skin epidermis	GO:0030280	9.7	KRT2 KRT6A KRT6B KRT71 KRT74 KRT75

Sources

Sources for Monilethrix

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MNLIX MCID: MNL001 MIFTS: 49	Monilethrix (MNLIX) Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Monilethrix (MNLIX)

Aliases & Classifications for Monilethrix

MalaCards integrated aliases for Monilethrix:

Characteristics:

Inheritance:

Age Of Onset:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Monilethrix

Related Diseases for Monilethrix

Diseases related to Monilethrix via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Monilethrix:

Symptoms & Phenotypes for Monilethrix

Human phenotypes related to Monilethrix:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Monilethrix according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Monilethrix:

Drugs & Therapeutics for Monilethrix

Cochrane evidence based reviews: monilethrix

Genetic Tests for Monilethrix

Genetic tests related to Monilethrix:

Anatomical Context for Monilethrix

Organs/tissues related to Monilethrix:

Publications for Monilethrix

Articles related to Monilethrix:

Genes for Monilethrix

Genes related to Monilethrix (4 elite genes):

Variations for Monilethrix

ClinVar genetic disease variations for Monilethrix:

UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:

Expression for Monilethrix

Pathways for Monilethrix

Pathways related to Monilethrix according to GeneCards Suite gene sharing:

GO Terms for Monilethrix

Cellular components related to Monilethrix according to GeneCards Suite gene sharing:

Biological processes related to Monilethrix according to GeneCards Suite gene sharing:

Molecular functions related to Monilethrix according to GeneCards Suite gene sharing:

Sources for Monilethrix