MCID: MNL001
MIFTS: 44

Monilethrix malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Monilethrix

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Monilethrix:

Name: Monilethrix 51 11 47 24 25 53 69 12 49 38 13
Beaded Hair 25 26
Moniliform Hair Syndrome 53
 
Nodose Hair 47
Mnlix 69

Characteristics:

Orphanet epidemiological data:

53
monilethrix:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

63
monilethrix:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset, variable expressivity

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

OMIM51 158000
Disease Ontology11 DOID:0050472
ICD1029 Q84.1
MeSH38 D056734
NCIt44 C84894
Orphanet53 ORPHA573
UMLS via Orphanet68 C0546966
MESH via Orphanet39 D056734
ICD10 via Orphanet30 Q84.1
MedGen36 C0546966
UMLS67 C0546966

Summaries for Monilethrix

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OMIM:51 Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile,... (158000) more...

MalaCards based summary: Monilethrix, also known as beaded hair, is related to hypotrichosis 6 and hypotrichosis 8, and has symptoms including abnormality of the eyebrow, hyperkeratosis and alopecia. An important gene associated with Monilethrix is KRT83 (Keratin 83), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin and cortex.

Genetics Home Reference:25 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.

NIH Rare Diseases:47 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. Last updated: 10/5/2015

UniProtKB/Swiss-Prot:69 Monilethrix: 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.

Wikipedia:70 Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in... more...

Related Diseases for Monilethrix

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Graphical network of the top 20 diseases related to Monilethrix:



Diseases related to monilethrix

Symptoms for Monilethrix

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Symptoms by clinical synopsis from OMIM:

158000

Clinical features from OMIM:

158000

Human phenotypes related to Monilethrix:

 63 53 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the eyebrow63 53 hallmark (90%) Very frequent (99-80%) HP:0000534
2 hyperkeratosis63 hallmark (90%) HP:0000962
3 alopecia63 hallmark (90%) HP:0001596
4 fine hair63 53 hallmark (90%) Very frequent (99-80%) HP:0002213
5 slow-growing hair63 53 hallmark (90%) Very frequent (99-80%) HP:0002217
6 abnormality of the teeth63 53 typical (50%) Occasional (29-5%) HP:0000164
7 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
8 behavioral abnormality63 occasional (7.5%) HP:0000708
9 seizures63 occasional (7.5%) HP:0001250
10 cognitive impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0100543
11 hypotrichosis63 53 Very frequent (99-80%) HP:0001006
12 abnormality of metabolism/homeostasis63 HP:0001939
13 nail dysplasia63 HP:0002164
14 brittle hair63 53 Very frequent (99-80%) HP:0002299
15 perifollicular hyperkeratosis63 HP:0007468
16 nail dystrophy63 HP:0008404
17 abnormality of the eyelashes53 Very frequent (99-80%)
18 intellectual disability53 Occasional (29-5%)
19 abnormality of the nail53 Very frequent (99-80%)
20 patchy alopecia53 Very frequent (99-80%)
21 follicular hyperkeratosis53 Very frequent (99-80%)
22 schizophrenia53 Occasional (29-5%)

Drugs & Therapeutics for Monilethrix

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Monilethrix


Cochrane evidence based reviews: monilethrix

Genetic Tests for Monilethrix

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Genetic tests related to Monilethrix:

id Genetic test Affiliating Genes
1 Beaded Hair26
2 Monilethrix24

Anatomical Context for Monilethrix

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MalaCards organs/tissues related to Monilethrix:

35
Skin, Cortex

Animal Models for Monilethrix or affiliated genes

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Publications for Monilethrix

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Articles related to Monilethrix:

(show top 50)    (show all 112)
idTitleAuthorsYear
1
Treatment of monilethrix with oral minoxidil. (27284572)
2016
2
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. (27965375)
2016
3
Novel KRT83 and KRT86 mutations associated with monilethrix. (25557232)
2015
4
Monilethrix with holt-oram syndrome: case report of a rare association. (25878448)
2015
5
A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism. (25809918)
2015
6
An Autosomal Recessive Mutation of DSG4 Causes Monilethrix through the ER Stress Response. (25615553)
2015
7
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene. (22628999)
2012
8
A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. (23554671)
2011
9
Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. (18393232)
2008
10
More than one gene involved in monilethrix: intracellular but also extracellular players. (16702971)
2006
11
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. (16439973)
2006
12
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. (15744029)
2005
13
A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin. (15050877)
2004
14
Severe monilethrix associated with intractable scalp pruritus, posterior subcapsular cataract, brachiocephaly, and distinct facial features: a new variant of monilethrix syndrome? (15283798)
2004
15
Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. (12771477)
2003
16
Localized monilethrix with improvement after treatment of iron deficiency anaemia. (11730057)
2001
17
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. (10878478)
2000
18
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)
1999
19
Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. (10594761)
1999
20
Monilethrix--improvement by hormonal influences? (10469416)
1999
21
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. (10504448)
1999
22
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. (9241275)
1997
23
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. (9402962)
1997
24
Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity. (9349326)
1997
25
Monilethrix in pedigree. (20948138)
1996
26
Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13. (8618025)
1996
27
Hair loss in a 6-month-old child. Monilethrix. (8624158)
1996
28
Picture of the month. Monilethrix. (7735410)
1995
29
Alopecia in a 19-month-old boy. Monilethrix. (8053707)
1994
30
What syndrome is this? Monilethrix syndrome. (8346120)
1993
31
Variations in the beading configuration in monilethrix. (1574471)
1992
32
Review and new case reports on scanning electron microscopy of pili annulati, Monilethrix and Trichothiodystrophy. (1462138)
1992
33
Monilethrix treated with oral retinoids. (1934581)
1991
34
Monilethrix treated with the oral retinoid Ro 10-9359 (Tigason). (6627730)
1983
35
Monilethrix. Comparative scanning electron microscopic study of the hair in one family. (7067874)
1982
36
Monilethrix: an electron microscopic and electron histochemical study. (7295569)
1981
37
Weathering of hair in monilethrix and pili torti. (923155)
1977
38
The effect of griseofulvin on hair growth in monilethrix. (4724857)
1973
39
A previously undescribed hereditary hair anomaly (pseudo-monilethrix). (4726892)
1973
40
Autoradiographic studies of hair growth and rhythm in monilethrix. (5783770)
1969
41
Argininosuccinic acid in monilethrix. (4158907)
1966
42
KERATIN IN MONILETHRIX. (14290311)
1965
43
Sex-linked neurodegenerative disease associated with monilethrix. (5829335)
1965
44
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. (14187469)
1964
45
MONILETHRIX: ITS OCCURRENCE IN SEVEN GENERATIONS, WITH ONE CASE THAT RESPONDED TO ENDOCRINE THERAPY. (14065471)
1963
46
An investigation of monilethrix. (13864139)
1962
47
Monilethrix: report of a family with special reference to some problems concerning inheritance. (13469795)
1957
48
A case for diagnosis; monilethrix? (18098710)
1948
49
THE INCIDENCE OF MONILETHRIX. (20780271)
1936
50
MONILETHRIX : A GROUP OF TWENTY-TWO CASES. (20777212)
1932

Variations for Monilethrix

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UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:

69 (show all 13)
id Symbol AA change Variation ID SNP ID
1KRT81p.Glu402LysVAR_018116rs56821304
2KRT81p.Glu413LysVAR_018117rs57419521
3KRT81p.Arg408CysVAR_073048rs771393943
4KRT83p.Glu407LysVAR_023052rs57802288
5KRT83p.Glu418LysVAR_073049
6KRT86p.Asn114AspVAR_018125rs61091894
7KRT86p.Glu402GlnVAR_018126rs28939669
8KRT86p.Glu402LysVAR_018127rs60687604
9KRT86p.Glu413LysVAR_018128rs121909129
10KRT86p.Glu413AspVAR_018129rs121909130
11KRT86p.Asn114HisVAR_023053rs61091894
12KRT86p.Leu409ProVAR_073050
13KRT86p.Leu410ProVAR_073051

Clinvar genetic disease variations for Monilethrix:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT82;KRT83NM_002282.3(KRT83): c.1219G> A (p.Glu407Lys)SNVPathogenicrs57802288GRCh37Chr 12, 52709720: 52709720
2KRT81NM_002281.3(KRT81): c.1237G> A (p.Glu413Lys)SNVPathogenicrs57419521GRCh37Chr 12, 52680896: 52680896
3KRT81NM_002281.3(KRT81): c.1204G> A (p.Glu402Lys)SNVPathogenicrs56821304GRCh37Chr 12, 52680929: 52680929
4KRT86NM_001320198.1(KRT86): c.1237G> A (p.Glu413Lys)SNVPathogenicrs121909129GRCh37Chr 12, 52700054: 52700054
5KRT86NM_001320198.1(KRT86): c.1239G> T (p.Glu413Asp)SNVPathogenicrs121909130GRCh37Chr 12, 52700056: 52700056
6KRT86NM_001320198.1(KRT86): c.1204G> A (p.Glu402Lys)SNVPathogenicrs60687604GRCh37Chr 12, 52700021: 52700021
7KRT86NM_001320198.1(KRT86): c.340A> G (p.Asn114Asp)SNVPathogenicrs61091894GRCh37Chr 12, 52696040: 52696040
8KRT86NM_001320198.1(KRT86): c.1204G> C (p.Glu402Gln)SNVPathogenicrs60687604GRCh37Chr 12, 52700021: 52700021
9KRT86NM_001320198.1(KRT86): c.353C> A (p.Ala118Glu)SNVPathogenicrs60612575GRCh37Chr 12, 52696053: 52696053

Expression for genes affiliated with Monilethrix

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Search GEO for disease gene expression data for Monilethrix.

Pathways for genes affiliated with Monilethrix

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Pathways related to Monilethrix according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.4KRT16, KRT17, KRT2, KRT6A

GO Terms for genes affiliated with Monilethrix

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.5KRT2, KRT81, KRT83, KRT86, KRT9
2keratin filamentGO:00450958.3KRT2, KRT6A, KRT74, KRT81, KRT83, KRT86
3intermediate filamentGO:00058828.2KRT16, KRT17, KRT2, KRT6A, KRT9
4extracellular exosomeGO:00700626.5KRT16, KRT17, KRT2, KRT6A, KRT74, KRT86

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1hair cycleGO:004263310.3KRT16, KRT83
2keratinocyte migrationGO:005154610.2KRT16, KRT2
3keratinocyte differentiationGO:00302169.4DSG4, KRT16, TGM1
4keratinizationGO:00314249.0KRT16, KRT17, KRT2, TGM1
5intermediate filament organizationGO:00451098.9KRT17, KRT2, KRT9
6intermediate filament cytoskeleton organizationGO:00451048.8KRT16, KRT6A, KRT74
7epidermis developmentGO:00085448.2KRT16, KRT17, KRT2, KRT83, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052007.8KRT16, KRT17, KRT2, KRT6A, KRT9
2structural molecule activityGO:00051987.7KRT2, KRT6A, KRT74, KRT81, KRT83, KRT86

Sources for Monilethrix

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet