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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Monilethrix:

Name: Monilethrix 52 11 48 24 25 54 70 12 50 39 13
Beaded Hair 25 27
Moniliform Hair Syndrome 54
 
Nodose Hair 48
Mnlix 70

Characteristics:

Orphanet epidemiological data:

54
monilethrix:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
monilethrix:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset, variable expressivity

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 158000
Disease Ontology11 DOID:0050472
ICD1030 Q84.1
MeSH39 D056734
NCIt45 C84894
Orphanet54 ORPHA573
UMLS via Orphanet69 C0546966
MESH via Orphanet40 D056734
ICD10 via Orphanet31 Q84.1
MedGen37 C0546966
UMLS68 C0546966

Summaries for Monilethrix

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OMIM:52 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:48 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:70 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:71 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 & Phenotypes for Monilethrix

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Symptoms by clinical synopsis from OMIM:

158000

Clinical features from OMIM:

158000

Human phenotypes related to Monilethrix:

 64 54 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the eyebrow64 54 hallmark (90%) Very frequent (99-80%) HP:0000534
2 hyperkeratosis64 hallmark (90%) HP:0000962
3 alopecia64 hallmark (90%) HP:0001596
4 fine hair64 54 hallmark (90%) Very frequent (99-80%) HP:0002213
5 slow-growing hair64 54 hallmark (90%) Very frequent (99-80%) HP:0002217
6 abnormality of the teeth64 54 typical (50%) Occasional (29-5%) HP:0000164
7 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
8 behavioral abnormality64 occasional (7.5%) HP:0000708
9 seizures64 occasional (7.5%) HP:0001250
10 cognitive impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0100543
11 hypotrichosis64 54 Very frequent (99-80%) HP:0001006
12 abnormality of metabolism/homeostasis64 HP:0001939
13 nail dysplasia64 HP:0002164
14 brittle hair64 54 Very frequent (99-80%) HP:0002299
15 perifollicular hyperkeratosis64 HP:0007468
16 nail dystrophy64 HP:0008404
17 abnormality of the eyelashes54 Very frequent (99-80%)
18 intellectual disability54 Occasional (29-5%)
19 abnormality of the nail54 Very frequent (99-80%)
20 patchy alopecia54 Very frequent (99-80%)
21 follicular hyperkeratosis54 Very frequent (99-80%)
22 schizophrenia54 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 Hair27
2 Monilethrix24

Anatomical Context for Monilethrix

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MalaCards organs/tissues related to Monilethrix:

36
Skin, Cortex

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
Dermoscopy: A rapid bedside tool to assess monilethrix. (26728817)
2016
4
Novel KRT83 and KRT86 mutations associated with monilethrix. (25557232)
2015
5
Monilethrix with holt-oram syndrome: case report of a rare association. (25878448)
2015
6
A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism. (25809918)
2015
7
An Autosomal Recessive Mutation of DSG4 Causes Monilethrix through the ER Stress Response. (25615553)
2015
8
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. (26173648)
2015
9
Monilethrix: a typical case report with microscopic and dermatoscopic findings. (25672313)
2015
10
Monilethrix, a rare inherited hair shaft disorder in siblings. (25165660)
2014
11
Monilethrix with variable expressivity. (23960403)
2013
12
Pitfalls and pearls in the diagnosis of monilethrix. (23834295)
2013
13
Monilethrix: a rare hereditary condition. (23723505)
2013
14
Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix. (23981620)
2013
15
Monilethrix. (24778539)
2013
16
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene. (22628999)
2012
17
Monilethrix. (22884362)
2012
18
A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. (22670615)
2012
19
Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. (22568869)
2012
20
A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. (23554671)
2011
21
Masquerading of trichotillomania in a family with monilethrix. (21224181)
2011
22
Monilethrix treated with minoxidil. (21496408)
2011
23
A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. (21495994)
2011
24
Monilethrix in pattern distribution in siblings: diagnosis by trichoscopy. (21188029)
2010
25
Monilethrix: one step more on the ladder of cytogenetics. (21188018)
2010
26
Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. (19400537)
2009
27
Mutation E402K of the hHb6 in a Chinese Han family with monilethrix. (19505862)
2009
28
Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. (18393232)
2008
29
Monilethrix in three generations. (19882001)
2008
30
Rapid diagnosis of monilethrix using dermoscopy. (18616771)
2008
31
Dermoscopy as a tool for rapid diagnosis of monilethrix. (17373184)
2007
32
More than one gene involved in monilethrix: intracellular but also extracellular players. (16702971)
2006
33
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. (16439973)
2006
34
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (16543896)
2006
35
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. (16575393)
2006
36
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. (15744029)
2005
37
Monilethrix: improvement with acitretin. (16343029)
2005
38
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
39
Severe monilethrix associated with intractable scalp pruritus, posterior subcapsular cataract, brachiocephaly, and distinct facial features: a new variant of monilethrix syndrome? (15283798)
2004
40
Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. (12771477)
2003
41
De novo mutations in monilethrix. (14714571)
2003
42
What is your diagnosis? Monilethrix. (14700211)
2003
43
Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. (12653715)
2003
44
Monilethrix. (17656942)
2002
45
Medical Pearl: an easy way to diagnose severe neonatal monilethrix. (11756955)
2002
46
Localized monilethrix with improvement after treatment of iron deficiency anaemia. (11730057)
2001
47
Keratosis pilaris and hereditary koilonychia without monilethrix. (11568761)
2001
48
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. (10878478)
2000
49
Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6. (10878479)
2000
50
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

Variations for Monilethrix

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UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:

70 (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:00056159.1KRT2, KRT81, KRT83, KRT86, KRT9
2intermediate filamentGO:00058828.3KRT16, KRT17, KRT2, KRT6A, KRT9
3keratin filamentGO:00450957.8KRT2, KRT6A, KRT74, KRT81, KRT83, KRT86
4extracellular exosomeGO:00700627.2KRT16, 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:004263310.4KRT16, KRT83
2keratinocyte migrationGO:00515469.6KRT16, KRT2
3intermediate filament organizationGO:00451099.5KRT17, KRT2, KRT9
4keratinocyte differentiationGO:00302169.5DSG4, KRT16, TGM1
5intermediate filament cytoskeleton organizationGO:00451049.3KRT16, KRT6A, KRT74
6keratinizationGO:00314249.2KRT16, KRT17, KRT2, TGM1
7epidermis developmentGO:00085448.9KRT16, KRT17, KRT2, KRT83, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052008.4KRT16, KRT17, KRT2, KRT6A, KRT9
2structural molecule activityGO:00051987.8KRT2, KRT6A, KRT74, KRT81, KRT83, KRT86

Sources for Monilethrix

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet