MNLIX
MCID: MNL001
MIFTS: 46

Monilethrix (MNLIX) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Monilethrix

Aliases & Descriptions for Monilethrix:

Name: Monilethrix 54 12 50 24 25 56 66 13 52 42 14
Beaded Hair 25 29
Moniliform Hair Syndrome 56
Nodose Hair 50
Mnlix 66

Characteristics:

Orphanet epidemiological data:

56
monilethrix
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
monilethrix:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 158000
Disease Ontology 12 DOID:0050472
ICD10 33 Q84.1
MeSH 42 D056734
NCIt 47 C84894
Orphanet 56 ORPHA573
UMLS via Orphanet 70 C0546966
MESH via Orphanet 43 D056734
ICD10 via Orphanet 34 Q84.1
MedGen 40 C0546966
UMLS 69 C0546966

Summaries for Monilethrix

OMIM : 54 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 intellectual disability, cataract and abnormality of the teeth. 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 : 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 : 50 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 : 66 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

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

(show all 45)
id Related Disease Score Top Affiliating Genes
1 hypotrichosis 6 11.6
2 hypotrichosis 8 10.8
3 hallucinogen abuse 10.2 DSG4 TGM1
4 sinoatrial node disease 10.1 DSG4 KRT74
5 sclerosteosis 1 10.1 KRT16 KRT17
6 communicating hydrocephalus 10.1 DSG4 TGM1
7 dicrocoeliasis 10.1 KRT16 KRT17
8 hypotrichosis 3 10.1 KRT74 LPAR6
9 craniodiaphyseal dysplasia, autosomal dominant 10.1 KRT16 KRT17
10 x-linked intellectual disability with or without nystagmus 10.1 KRT74 LPAR6
11 velocardiofacial syndrome 10.1 KRT2 TGM1
12 brachydactyly small stature face anomalies 10.1 KRT16 KRT17
13 mitochondrial complex deficiency, nuclear type 4 10.0 DSG4 KRT74 LPAR6
14 spastic paraplegia 14, autosomal recessive 10.0 DSG4 KRT74 LPAR6
15 richter's syndrome 10.0 KRT2 KRT81 TGM1
16 congenital disorder of glycosylation, type ip 10.0 DSG4 KRT74 LPAR6
17 ichthyosis, acquired 10.0 DSG4 KRT74 LPAR6
18 hypotrichosis 10.0
19 distal arthrogryposis 10.0 KRT16 KRT17
20 benign hypertensive renal disease 10.0 KRT16 KRT6A
21 keratosis palmoplantaris striata iii 10.0 KRT16 KRT9
22 carotid artery thrombosis 10.0 KRT16 KRT9
23 mesenchymal chondrosarcoma 9.9 DSG4 KRT74 KRT86 LPAR6
24 chronic mountain sickness 9.9 KRT16 KRT17 KRT9
25 white sponge nevus 1 9.9 KRT16 KRT17 KRT9
26 malignant spindle cell melanoma 9.9 KRT16 KRT17
27 keratosis pilaris 9.8
28 cataract 9.8
29 keratosis 9.8
30 bacteriuria 9.8 KRT16 KRT17 KRT6A
31 papilledema 9.8 KRT16 KRT17 KRT6A
32 pyoderma 9.8 DSG4 KRT74 KRT81 KRT86 LPAR6
33 solitary bone cyst 9.8 DSG4 KRT16 KRT9 TGM1
34 ichthyosis histrix, curth-macklin type 9.7 KRT16 KRT17 KRT2 KRT9
35 hereditary koilonychia 9.7
36 pili torti 9.7
37 argininosuccinic aciduria 9.7
38 holt-oram syndrome 9.7
39 trichotillomania 9.7
40 alopecia 9.7
41 hair disease 9.7
42 scott syndrome 9.5 KRT16 KRT2 KRT6A KRT86 KRT9
43 epidermolysis bullosa simplex-mp 9.3 KRT16 KRT2 KRT6A KRT74 KRT86 KRT9
44 pachyonychia congenita 2 9.2 KRT16 KRT17 KRT2 KRT6A KRT74 KRT9
45 cataract 15, multiple types 8.5 DSG4 KRT16 KRT17 KRT2 KRT6A KRT74

Graphical network of the top 20 diseases related to Monilethrix:



Diseases related to Monilethrix

Symptoms & Phenotypes for Monilethrix

Symptoms by clinical synopsis from OMIM:

158000

Clinical features from OMIM:

158000

Human phenotypes related to Monilethrix:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 56 32 Occasional (29-5%) HP:0001249
2 cataract 56 32 Occasional (29-5%) HP:0000518
3 abnormality of the teeth 56 32 Occasional (29-5%) HP:0000164
4 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
5 abnormality of the nail 56 32 Very frequent (99-80%) HP:0001597
6 abnormality of the eyelashes 56 32 Very frequent (99-80%) HP:0000499
7 abnormality of the eyebrow 56 32 Very frequent (99-80%) HP:0000534
8 hypotrichosis 56 32 Very frequent (99-80%) HP:0001006
9 schizophrenia 56 32 Occasional (29-5%) HP:0100753
10 fine hair 56 32 Very frequent (99-80%) HP:0002213
11 slow-growing hair 56 32 Very frequent (99-80%) HP:0002217
12 brittle hair 56 32 Very frequent (99-80%) HP:0002299
13 follicular hyperkeratosis 56 32 Very frequent (99-80%) HP:0007502
14 patchy alopecia 56 32 Very frequent (99-80%) HP:0002232
15 abnormality of metabolism/homeostasis 32 HP:0001939
16 nail dystrophy 32 HP:0008404
17 alopecia 32 HP:0001596
18 nail dysplasia 32 HP:0002164
19 perifollicular hyperkeratosis 32 HP:0007468

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:

id Genetic test Affiliating Genes
1 Beaded Hair 29
2 Monilethrix 24 KRT86 KRT81 KRT83

Anatomical Context for Monilethrix

MalaCards organs/tissues related to Monilethrix:

39
Skin, Cortex

Publications for Monilethrix

Articles related to Monilethrix:

(show top 50) (show all 113)
id Title Authors Year
1
Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene. ( 28299823 )
2017
2
Treatment of monilethrix with oral minoxidil. ( 27284572 )
2016
3
Dermoscopy: A rapid bedside tool to assess monilethrix. ( 26728817 )
2016
4
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. ( 27965375 )
2016
5
Novel KRT83 and KRT86 mutations associated with monilethrix. ( 25557232 )
2015
6
Monilethrix: a typical case report with microscopic and dermatoscopic findings. ( 25672313 )
2015
7
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. ( 26173648 )
2015
8
An Autosomal Recessive Mutation of DSG4 Causes Monilethrix through the ER Stress Response. ( 25615553 )
2015
9
Monilethrix with holt-oram syndrome: case report of a rare association. ( 25878448 )
2015
10
A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism. ( 25809918 )
2015
11
Monilethrix, a rare inherited hair shaft disorder in siblings. ( 25165660 )
2014
12
Monilethrix with variable expressivity. ( 23960403 )
2013
13
Pitfalls and pearls in the diagnosis of monilethrix. ( 23834295 )
2013
14
Monilethrix: a rare hereditary condition. ( 23723505 )
2013
15
Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix. ( 23981620 )
2013
16
Monilethrix. ( 24778539 )
2013
17
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene. ( 22628999 )
2012
18
Monilethrix. ( 22884362 )
2012
19
A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. ( 22670615 )
2012
20
Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. ( 22568869 )
2012
21
Monilethrix treated with minoxidil. ( 21496408 )
2011
22
Masquerading of trichotillomania in a family with monilethrix. ( 21224181 )
2011
23
A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. ( 23554671 )
2011
24
A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. ( 21495994 )
2011
25
Monilethrix in pattern distribution in siblings: diagnosis by trichoscopy. ( 21188029 )
2010
26
Monilethrix: one step more on the ladder of cytogenetics. ( 21188018 )
2010
27
Mutation E402K of the hHb6 in a Chinese Han family with monilethrix. ( 19505862 )
2009
28
Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. ( 19400537 )
2009
29
[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. ( 18393232 )
2008
30
Monilethrix in three generations. ( 19882001 )
2008
31
Rapid diagnosis of monilethrix using dermoscopy. ( 18616771 )
2008
32
Dermoscopy as a tool for rapid diagnosis of monilethrix. ( 17373184 )
2007
33
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. ( 16543896 )
2006
34
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. ( 16439973 )
2006
35
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. ( 16575393 )
2006
36
More than one gene involved in monilethrix: intracellular but also extracellular players. ( 16702971 )
2006
37
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. ( 15744029 )
2005
38
Monilethrix: improvement with acitretin. ( 16343029 )
2005
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
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
41
Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. ( 12771477 )
2003
42
What is your diagnosis? Monilethrix. ( 14700211 )
2003
43
De novo mutations in monilethrix. ( 14714571 )
2003
44
Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. ( 12653715 )
2003
45
Medical Pearl: an easy way to diagnose severe neonatal monilethrix. ( 11756955 )
2002
46
Monilethrix. ( 17656942 )
2002
47
Localized monilethrix with improvement after treatment of iron deficiency anaemia. ( 11730057 )
2001
48
Keratosis pilaris and hereditary koilonychia without monilethrix. ( 11568761 )
2001
49
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. ( 10878478 )
2000
50
Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6. ( 10878479 )
2000

Variations for Monilethrix

UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:

66 (show all 13)
id 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 rs28939669
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
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT82; KRT83 NM_002282.3(KRT83): c.1219G> A (p.Glu407Lys) single nucleotide variant 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

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 DSG4 KRT16 KRT17 KRT2 KRT6A KRT74
2
Show member pathways
11.82 DSG4 KRT16 KRT17 KRT2 KRT6A KRT74
3
Show member pathways
11.49 KRT16 KRT17 KRT2 KRT6A

GO Terms for Monilethrix

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.96 KRT16 KRT17 KRT2 KRT6A KRT74 KRT81
2 extracellular exosome GO:0070062 9.92 KRT16 KRT17 KRT2 KRT6A KRT74 KRT86
3 extracellular space GO:0005615 9.77 KRT2 KRT81 KRT83 KRT86 KRT9
4 keratin filament GO:0045095 9.43 KRT2 KRT6A KRT74 KRT81 KRT83 KRT86
5 cornified envelope GO:0001533 9.33 DSG4 KRT2 TGM1
6 intermediate filament GO:0005882 9.28 KRT16 KRT17 KRT2 KRT6A KRT74 KRT81

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

id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.7 DSG4 KRT16 KRT17 KRT2 KRT6A KRT74
2 keratinocyte differentiation GO:0030216 9.58 DSG4 KRT16 TGM1
3 epidermis development GO:0008544 9.55 KRT16 KRT17 KRT2 KRT83 KRT9
4 intermediate filament cytoskeleton organization GO:0045104 9.5 KRT16 KRT6A KRT74
5 peptide cross-linking GO:0018149 9.46 KRT2 TGM1
6 hair cycle GO:0042633 9.43 KRT16 KRT83
7 intermediate filament organization GO:0045109 9.43 KRT17 KRT2 KRT9
8 keratinocyte migration GO:0051546 9.37 KRT16 KRT2
9 cornification GO:0070268 9.36 DSG4 KRT16 KRT17 KRT2 KRT6A KRT74

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.35 KRT16 KRT17 KRT2 KRT6A KRT9
2 structural molecule activity GO:0005198 9.23 KRT16 KRT17 KRT2 KRT6A KRT74 KRT81

Sources for Monilethrix

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