MCID: MNL001
MIFTS: 47

Monilethrix

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Monilethrix

MalaCards integrated aliases for Monilethrix:

Name: Monilethrix 53 12 72 49 24 55 71 36 13 51 41 14
Beaded Hair 24 28
Mnlix 53 71
Moniliform Hair Syndrome 55
Nodose Hair 49

Characteristics:

Orphanet epidemiological data:

55
monilethrix
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
monilethrix:
Onset and clinical course variable expressivity infantile onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

OMIM 53 158000
Disease Ontology 12 DOID:0050472
ICD10 32 Q84.1
MeSH 41 D056734
NCIt 46 C84894
Orphanet 55 ORPHA573
MESH via Orphanet 42 D056734
UMLS via Orphanet 70 C0546966
ICD10 via Orphanet 33 Q84.1
MedGen 39 C0546966
KEGG 36 H00670
UMLS 69 C0546966

Summaries for Monilethrix

OMIM : 53 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)

MalaCards based summary : Monilethrix, also known as beaded hair, is related to hypotrichosis 6 and hypotrichosis 8, and has symptoms including intellectual disability, cataract and abnormality of the dentition. An important gene associated with Monilethrix is KRT86 (Keratin 86), and among its related pathways/superpathways are Developmental Biology and Keratinization. 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 : 49 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 : 71 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 : 72 Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in... more...

Related Diseases for Monilethrix

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 6 32.8 DSG4 KRT74 LPAR6
2 hypotrichosis 8 31.3 DSG4 KRT74 LPAR6
3 hypotrichosis 7 29.9 DSG4 KRT74 LPAR6
4 hypotrichosis 29.4 DSG4 KRT74 KRT83 KRT86 LPAR6
5 hair disease 29.0 DSG4 KRT74 KRT81 KRT86 LPAR6
6 cicatricial ectropion 10.3 DSG4 TGM1
7 hypotrichosis simplex 10.3 DSG4 LPAR6
8 pilomatrixoma 10.2 KRT81 TCHH
9 first-degree atrioventricular block 10.1 DSG4 KRT74
10 woolly hair syndrome 10.1 KRT74 LPAR6
11 hair follicle neoplasm 10.1 KRT17 TCHH
12 pachyonychia congenita 2 10.1 KRT16 KRT17
13 tinea corporis 10.1 KRT16 KRT17
14 fissured tongue 10.1 KRT16 KRT6A
15 steatocystoma multiplex 10.0 KRT16 KRT17
16 keratosis, seborrheic 10.0 KRT17 TCHH
17 bowen's disease 10.0 KRT16 KRT17
18 blood group, i system 10.0
19 cataract 9.9
20 keratosis 9.9
21 keratoacanthoma 9.9 KRT16 KRT17
22 epidermoid cysts 9.8 KRT17 KRT6A TCHH
23 holt-oram syndrome 9.8
24 nail disorder, nonsyndromic congenital, 2 9.8
25 ringed hair 9.8
26 argininosuccinic aciduria 9.8
27 trichothiodystrophy 1, photosensitive 9.8
28 trichotillomania 9.8
29 alopecia 9.8
30 iron metabolism disease 9.8
31 pili torti 9.8
32 palmoplantar keratoderma, nonepidermolytic 9.8 KRT16 KRT9
33 median rhomboid glossitis 9.7 KRT16 KRT17 KRT6A
34 glossitis 9.7 KRT16 KRT17 KRT6A
35 congenital ichthyosiform erythroderma 9.7 KRT81 KRT9 TGM1
36 primary cutaneous amyloidosis 9.6 KRT16 KRT17
37 basal cell carcinoma 9.6 KRT16 KRT17 TCHH
38 palmoplantar keratosis 9.6 KRT16 KRT9
39 palmoplantar keratoderma, epidermolytic 9.5 KRT16 KRT17 KRT9
40 skin disease 9.4 DSG4 KRT16 KRT9 TGM1
41 ichthyosis bullosa of siemens 9.3 KRT16 KRT6A KRT86 KRT9
42 epidermolytic hyperkeratosis 9.3 KRT16 KRT17 KRT9 TCHH
43 white sponge nevus 1 8.9 KRT16 KRT6A KRT74 KRT86 KRT9
44 pachyonychia congenita 1 8.7 KRT16 KRT17 KRT6A KRT74 KRT9

Graphical network of the top 20 diseases related to Monilethrix:



Diseases related to Monilethrix

Symptoms & Phenotypes for Monilethrix

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Hair:
hypotrichosis
brittle hair
short hair
beaded hair on microscopy

Skin Nails Hair Skin:
keratosis pilaris
follicular keratosis

Skin Nails Hair Nails:
onychodystrophy


Clinical features from OMIM:

158000

Human phenotypes related to Monilethrix:

55 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
2 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
3 abnormality of the dentition 55 31 occasional (7.5%) Occasional (29-5%) HP:0000164
4 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
5 abnormality of the nail 55 31 hallmark (90%) Very frequent (99-80%) HP:0001597
6 abnormality of the eyelashes 55 31 hallmark (90%) Very frequent (99-80%) HP:0000499
7 hypotrichosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001006
8 schizophrenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100753
9 fine hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002213
10 slow-growing hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002217
11 brittle hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002299
12 follicular hyperkeratosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0007502
13 patchy alopecia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002232
14 abnormality of metabolism/homeostasis 31 HP:0001939
15 nail dystrophy 31 HP:0008404
16 alopecia 31 HP:0001596
17 abnormality of the eyebrow 55 Very frequent (99-80%)
18 nail dysplasia 31 HP:0002164
19 perifollicular hyperkeratosis 31 HP:0007468
20 abnormal eyebrow morphology 31 hallmark (90%) HP:0000534

Drugs & Therapeutics for Monilethrix

Search Clinical Trials , NIH Clinical Center for Monilethrix

Cochrane evidence based reviews: monilethrix

Genetic Tests for Monilethrix

Genetic tests related to Monilethrix:

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

Anatomical Context for Monilethrix

MalaCards organs/tissues related to Monilethrix:

38
Skin, Cortex

Publications for Monilethrix

Articles related to Monilethrix:

(show top 50) (show all 116)
# Title Authors Year
1
Monilethrix: A case report imaged by trichoscopy, reflectance confocal microscopy and histopathology. ( 29400908 )
2018
2
Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene. ( 28299823 )
2017
3
Discreet Monilethrix: De novo Mutation on the Example of Polish Families. ( 28839397 )
2017
4
Image Gallery: Unusual images of monilethrix: the eyebrows and the biopsy. ( 29052899 )
2017
5
Treatment of monilethrix with oral minoxidil. ( 27284572 )
2016
6
Dermoscopy: A rapid bedside tool to assess monilethrix. ( 26728817 )
2016
7
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. ( 27965375 )
2016
8
Monilethrix: a typical case report with microscopic and dermatoscopic findings. ( 25672313 )
2015
9
Novel KRT83 and KRT86 mutations associated with monilethrix. ( 25557232 )
2015
10
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. ( 26173648 )
2015
11
An Autosomal Recessive Mutation of DSG4 Causes Monilethrix through the ER Stress Response. ( 25615553 )
2015
12
Monilethrix with holt-oram syndrome: case report of a rare association. ( 25878448 )
2015
13
A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism. ( 25809918 )
2015
14
Monilethrix, a rare inherited hair shaft disorder in siblings. ( 25165660 )
2014
15
Pitfalls and pearls in the diagnosis of monilethrix. ( 23834295 )
2013
16
Monilethrix with variable expressivity. ( 23960403 )
2013
17
Monilethrix: a rare hereditary condition. ( 23723505 )
2013
18
Monilethrix. ( 24778539 )
2013
19
Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix. ( 23981620 )
2013
20
Monilethrix. ( 22884362 )
2012
21
A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. ( 22670615 )
2012
22
Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. ( 22568869 )
2012
23
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene. ( 22628999 )
2012
24
Monilethrix treated with minoxidil. ( 21496408 )
2011
25
Masquerading of trichotillomania in a family with monilethrix. ( 21224181 )
2011
26
A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. ( 23554671 )
2011
27
A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. ( 21495994 )
2011
28
Monilethrix in pattern distribution in siblings: diagnosis by trichoscopy. ( 21188029 )
2010
29
Monilethrix: one step more on the ladder of cytogenetics. ( 21188018 )
2010
30
Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. ( 19400537 )
2009
31
Mutation E402K of the hHb6 in a Chinese Han family with monilethrix. ( 19505862 )
2009
32
[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. ( 18393232 )
2008
33
Monilethrix in three generations. ( 19882001 )
2008
34
Rapid diagnosis of monilethrix using dermoscopy. ( 18616771 )
2008
35
Dermoscopy as a tool for rapid diagnosis of monilethrix. ( 17373184 )
2007
36
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. ( 16575393 )
2006
37
More than one gene involved in monilethrix: intracellular but also extracellular players. ( 16702971 )
2006
38
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. ( 16543896 )
2006
39
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. ( 16439973 )
2006
40
Monilethrix: improvement with acitretin. ( 16343029 )
2005
41
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. ( 15744029 )
2005
42
Severe monilethrix associated with intractable scalp pruritus, posterior subcapsular cataract, brachiocephaly, and distinct facial features: a new variant of monilethrix syndrome? ( 15283798 )
2004
43
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
44
Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. ( 12653715 )
2003
45
What is your diagnosis? Monilethrix. ( 14700211 )
2003
46
De novo mutations in monilethrix. ( 14714571 )
2003
47
Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. ( 12771477 )
2003
48
Medical Pearl: an easy way to diagnose severe neonatal monilethrix. ( 11756955 )
2002
49
Monilethrix. ( 17656942 )
2002
50
Keratosis pilaris and hereditary koilonychia without monilethrix. ( 11568761 )
2001

Variations for Monilethrix

UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:

71 (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
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

ClinVar genetic disease variations for Monilethrix:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT83 NM_002282.3(KRT83): c.1219G> A (p.Glu407Lys) single nucleotide variant Pathogenic/Likely pathogenic rs57802288 GRCh37 Chromosome 12, 52709720: 52709720
2 KRT81 NM_002281.3(KRT81): c.1237G> A (p.Glu413Lys) single nucleotide variant Pathogenic rs57419521 GRCh37 Chromosome 12, 52680896: 52680896
3 KRT81 NM_002281.3(KRT81): c.1204G> A (p.Glu402Lys) single nucleotide variant Pathogenic rs56821304 GRCh37 Chromosome 12, 52680929: 52680929
4 KRT86 NM_001320198.1(KRT86): c.1237G> A (p.Glu413Lys) single nucleotide variant Pathogenic rs121909129 GRCh37 Chromosome 12, 52700054: 52700054
5 KRT86 NM_001320198.1(KRT86): c.1239G> T (p.Glu413Asp) single nucleotide variant Pathogenic rs121909130 GRCh37 Chromosome 12, 52700056: 52700056
6 KRT86 NM_001320198.1(KRT86): c.1204G> A (p.Glu402Lys) single nucleotide variant Pathogenic rs60687604 GRCh37 Chromosome 12, 52700021: 52700021
7 KRT86 NM_001320198.1(KRT86): c.340A> G (p.Asn114Asp) single nucleotide variant Pathogenic rs61091894 GRCh37 Chromosome 12, 52696040: 52696040
8 KRT86 NM_001320198.1(KRT86): c.1204G> C (p.Glu402Gln) single nucleotide variant Pathogenic rs60687604 GRCh37 Chromosome 12, 52700021: 52700021
9 KRT86 NM_001320198.1(KRT86): c.353C> A (p.Ala118Glu) single nucleotide variant Pathogenic rs60612575 GRCh37 Chromosome 12, 52696053: 52696053
10 KRT83 NM_002282.3(KRT83): c.1252G> A (p.Glu418Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 52315903: 52315903

Expression for Monilethrix

Search GEO for disease gene expression data for Monilethrix.

Pathways for Monilethrix

Pathways related to Monilethrix according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 DSG4 KRT16 KRT17 KRT6A KRT74 KRT81
2
Show member pathways
11.82 DSG4 KRT16 KRT17 KRT6A KRT74 KRT81
3
Show member pathways
11.37 KRT16 KRT17 KRT6A

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 9.96 KRT16 KRT17 KRT6A KRT74 KRT81 KRT83
2 extracellular exosome GO:0070062 9.87 KRT16 KRT17 KRT6A KRT74 KRT86 KRT9
3 keratin filament GO:0045095 9.35 KRT6A KRT74 KRT81 KRT83 KRT86
4 cornified envelope GO:0001533 9.33 DSG4 TCHH TGM1
5 intermediate filament GO:0005882 9.23 KRT16 KRT17 KRT6A KRT74 KRT81 KRT83

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

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.7 DSG4 KRT16 KRT17 KRT6A KRT74 KRT81
2 epidermis development GO:0008544 9.56 KRT16 KRT17 KRT83 KRT9
3 keratinocyte differentiation GO:0030216 9.5 DSG4 KRT16 TGM1
4 morphogenesis of an epithelium GO:0002009 9.43 KRT16 KRT6A
5 intermediate filament organization GO:0045109 9.4 KRT17 KRT9
6 hair cycle GO:0042633 9.37 KRT16 KRT83
7 keratinization GO:0031424 9.36 DSG4 KRT16 KRT17 KRT6A KRT74 KRT81
8 intermediate filament cytoskeleton organization GO:0045104 9.33 KRT16 KRT6A KRT74

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 9.26 KRT16 KRT17 KRT6A KRT9
2 structural molecule activity GO:0005198 9.17 KRT16 KRT17 KRT6A KRT74 KRT81 KRT83

Sources for Monilethrix

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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