MCID: MNL001
MIFTS: 46

Monilethrix malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Monilethrix

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 25GTR, 28ICD10, 43NCIt, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Monilethrix:

Name: Monilethrix 50 11 46 23 24 13 52 68 12 48 37
Beaded Hair 24 25
Moniliform Hair Syndrome 52
 
Nodose Hair 46
Mnlix 68

Characteristics:

Orphanet epidemiological data:

52
monilethrix:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
monilethrix:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset, variable expressivity


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 158000
Disease Ontology11 DOID:0050472
ICD1028 Q84.1
MeSH37 D056734
NCIt43 C84894
Orphanet52 ORPHA573
UMLS via Orphanet67 C0546966
ICD10 via Orphanet29 Q84.1
MESH via Orphanet38 D056734
MedGen35 C0546966
UMLS66 C0546966

Summaries for Monilethrix

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OMIM:50 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 ocular motility disease, 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:24 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:46 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:68 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:69 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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Diseases related to Monilethrix via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis 611.3
2ocular motility disease10.5DSG4, TGM1
3fanconi ichthyosis dysmorphism10.3KRT74, LPAR6
4third-degree atrioventricular block10.3DSG4, KRT74
5hyper ige syndrome10.3DSG4, LPAR6
6otosclerosis10.3KRT16, KRT17
7craniodiaphyseal dysplasia, autosomal dominant10.1KRT16, KRT17
8hypotrichosis10.1
9familial retinoblastoma10.1KRT16, KRT17
10abnormal pupillary function10.0KRT16, KRT6A
11keratosis pilaris10.0
12cataract10.0
13keratosis10.0
14lipomatosis10.0KRT16, KRT17
15hypotrichosis 89.9
16nominal aphasia9.9DSG4, KRT74, KRT86, LPAR6
17sclerosteosis 19.9KRT16, KRT17, KRT6B
18keratosis palmoplantaris striata iii9.9KRT16, KRT17, KRT9
19argininosuccinic aciduria9.8
20holt-oram syndrome9.8
21trichotillomania9.8
22alopecia9.8
23hair disease9.8
24pili torti9.8
25hereditary koilonychia9.8
26cholesteatoma of attic9.8KRT6A, KRT6B
27palmoplantar keratoderma, epidermolytic9.8KRT16, KRT74, KRT9
28distal arthrogryposis9.8KRT16, KRT17
29steroid inherited metabolic disorder9.7KRT2, KRT81, TGM1
30malignant ovarian brenner tumor9.7DSG4, KRT74, KRT81, KRT86, LPAR6
31hypothyroidism9.6KRT16, KRT6A, KRT6B
32pachyonychia congenita 29.3KRT16, KRT17, KRT6A, KRT6B
33familial lipoprotein lipase deficiency9.3KRT16, KRT17, KRT6A, KRT6B
34histiocytosis9.2KRT16, KRT6A, KRT74, KRT9
35ichthyosis, cyclic, with epidermolytic hyperkeratosis8.8KRT16, KRT17, KRT2, KRT9, TGM1
36lissencephaly8.8KRT16, KRT17, KRT6A, KRT6B, KRT9
37epidermolysis bullosa simplex, dowling-meara type7.7KRT16, KRT2, KRT6A, KRT6B, KRT74, KRT86
38ectodermal dysplasia 4, hair/nail type5.4DSG4, ENTPD3, HBN1, KRT16, KRT17, KRT2

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

Symptoms:

 52 (show all 14)
  • abnormality of the teeth
  • abnormality of the eyelashes
  • cataract
  • abnormality of the eyebrow
  • hypotrichosis
  • intellectual disability
  • abnormality of the nail
  • fine hair
  • slow-growing hair
  • patchy alopecia
  • brittle hair
  • follicular hyperkeratosis
  • cognitive impairment
  • schizophrenia

HPO human phenotypes related to Monilethrix:

(show all 18)
id Description Frequency HPO Source Accession
1 abnormality of the eyebrow hallmark (90%) HP:0000534
2 hyperkeratosis hallmark (90%) HP:0000962
3 alopecia hallmark (90%) HP:0001596
4 fine hair hallmark (90%) HP:0002213
5 slow-growing hair hallmark (90%) HP:0002217
6 abnormality of the teeth typical (50%) HP:0000164
7 abnormality of the teeth occasional (7.5%) HP:0000164
8 cataract occasional (7.5%) HP:0000518
9 behavioral abnormality occasional (7.5%) HP:0000708
10 seizures occasional (7.5%) HP:0001250
11 cognitive impairment occasional (7.5%) HP:0100543
12 hypotrichosis HP:0001006
13 alopecia HP:0001596
14 abnormality of metabolism/homeostasis HP:0001939
15 nail dysplasia HP:0002164
16 brittle hair HP:0002299
17 perifollicular hyperkeratosis HP:0007468
18 nail dystrophy HP:0008404

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 Hair25
2 Monilethrix23

Anatomical Context for Monilethrix

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MalaCards organs/tissues related to Monilethrix:

34
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 111)
idTitleAuthorsYear
1
Treatment of monilethrix with oral minoxidil. (27284572)
2016
2
Novel KRT83 and KRT86 mutations associated with monilethrix. (25557232)
2015
3
Monilethrix with holt-oram syndrome: case report of a rare association. (25878448)
2015
4
A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism. (25809918)
2015
5
An Autosomal Recessive Mutation of DSG4 Causes Monilethrix through the ER Stress Response. (25615553)
2015
6
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene. (22628999)
2012
7
A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. (23554671)
2011
8
Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. (18393232)
2008
9
More than one gene involved in monilethrix: intracellular but also extracellular players. (16702971)
2006
10
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. (16439973)
2006
11
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. (15744029)
2005
12
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
13
Severe monilethrix associated with intractable scalp pruritus, posterior subcapsular cataract, brachiocephaly, and distinct facial features: a new variant of monilethrix syndrome? (15283798)
2004
14
Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. (12771477)
2003
15
Localized monilethrix with improvement after treatment of iron deficiency anaemia. (11730057)
2001
16
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. (10878478)
2000
17
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
18
Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. (10594761)
1999
19
Monilethrix--improvement by hormonal influences? (10469416)
1999
20
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. (10504448)
1999
21
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. (9241275)
1997
22
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. (9402962)
1997
23
Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity. (9349326)
1997
24
Monilethrix in pedigree. (20948138)
1996
25
Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13. (8618025)
1996
26
Hair loss in a 6-month-old child. Monilethrix. (8624158)
1996
27
Picture of the month. Monilethrix. (7735410)
1995
28
Alopecia in a 19-month-old boy. Monilethrix. (8053707)
1994
29
What syndrome is this? Monilethrix syndrome. (8346120)
1993
30
Variations in the beading configuration in monilethrix. (1574471)
1992
31
Review and new case reports on scanning electron microscopy of pili annulati, Monilethrix and Trichothiodystrophy. (1462138)
1992
32
Monilethrix treated with oral retinoids. (1934581)
1991
33
Monilethrix treated with the oral retinoid Ro 10-9359 (Tigason). (6627730)
1983
34
Monilethrix. Comparative scanning electron microscopic study of the hair in one family. (7067874)
1982
35
Monilethrix: an electron microscopic and electron histochemical study. (7295569)
1981
36
Weathering of hair in monilethrix and pili torti. (923155)
1977
37
The effect of griseofulvin on hair growth in monilethrix. (4724857)
1973
38
A previously undescribed hereditary hair anomaly (pseudo-monilethrix). (4726892)
1973
39
Autoradiographic studies of hair growth and rhythm in monilethrix. (5783770)
1969
40
Argininosuccinic acid in monilethrix. (4158907)
1966
41
KERATIN IN MONILETHRIX. (14290311)
1965
42
Sex-linked neurodegenerative disease associated with monilethrix. (5829335)
1965
43
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. (14187469)
1964
44
MONILETHRIX: ITS OCCURRENCE IN SEVEN GENERATIONS, WITH ONE CASE THAT RESPONDED TO ENDOCRINE THERAPY. (14065471)
1963
45
An investigation of monilethrix. (13864139)
1962
46
Monilethrix. A family study. (13979250)
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:

68 (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
1NM_002282.3(KRT83): c.1219G> A (p.Glu407Lys)single nucleotide variantPathogenicrs57802288GRCh37Chr 12, 52709720: 52709720
2NM_002281.3(KRT81): c.1237G> A (p.Glu413Lys)single nucleotide variantPathogenicrs57419521GRCh37Chr 12, 52680896: 52680896
3NM_002281.3(KRT81): c.1204G> A (p.Glu402Lys)single nucleotide variantPathogenicrs56821304GRCh37Chr 12, 52680929: 52680929
4KRT86NM_001320198.1(KRT86): c.1237G> A (p.Glu413Lys)single nucleotide variantPathogenicrs121909129GRCh37Chr 12, 52700054: 52700054
5KRT86NM_001320198.1(KRT86): c.1239G> T (p.Glu413Asp)single nucleotide variantPathogenicrs121909130GRCh37Chr 12, 52700056: 52700056
6KRT86NM_001320198.1(KRT86): c.1204G> A (p.Glu402Lys)single nucleotide variantPathogenicrs60687604GRCh37Chr 12, 52700021: 52700021
7KRT86NM_001320198.1(KRT86): c.340A> G (p.Asn114Asp)single nucleotide variantPathogenicrs61091894GRCh37Chr 12, 52696040: 52696040
8KRT86NM_001320198.1(KRT86): c.1204G> C (p.Glu402Gln)single nucleotide variantPathogenicrs60687604GRCh37Chr 12, 52700021: 52700021
9KRT86NM_001320198.1(KRT86): c.353C> A (p.Ala118Glu)single nucleotide variantPathogenicrs60612575GRCh37Chr 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
8.3KRT16, 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
1intermediate filamentGO:00058828.3KRT16, KRT17, KRT2, KRT6A, KRT9
2keratin filamentGO:00450957.9KRT2, KRT6A, KRT6B, KRT74, KRT81, KRT83
3extracellular exosomeGO:00700626.2KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT74

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1hair cycleGO:004263310.5KRT16, KRT83
2keratinocyte migrationGO:00515469.9KRT16, KRT2
3keratinocyte differentiationGO:00302169.7DSG4, KRT16, TGM1
4intermediate filament cytoskeleton organizationGO:00451049.4KRT16, KRT6A, KRT74
5keratinizationGO:00314248.9KRT16, KRT17, KRT2, TGM1
6cytoskeleton organizationGO:00070108.8KRT16, KRT2, KRT6B
7intermediate filament organizationGO:00451098.8KRT17, KRT2, KRT9
8epidermis developmentGO:00085448.4KRT16, KRT17, KRT2, KRT83, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051987.8KRT2, KRT6A, KRT74, KRT81, KRT83, KRT86
2structural constituent of cytoskeletonGO:00052007.3KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT9

Sources for Monilethrix

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet