MCID: MNL001
MIFTS: 55

Monilethrix malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Monilethrix

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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.

MalaCards: Monilethrix, also known as dentatorubral-pallidoluysian atrophy, is related to hypotrichosis and keratosis, and has symptoms including anomalies of teeth and dentition, cataract/lens opacification and abnormal dentition/dental position/implantation/unerupted/dental ankylosis. An important gene associated with Monilethrix is KRT86 (keratin 86), and among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Keratin filaments. The compounds dithranol and acitretin have been mentioned in the context of this disorder. Affiliated tissues include skin and cortex, and related mouse phenotypes are craniofacial and pigmentation.

NIH Rare Diseases:44 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: 1/30/2012

Wikipedia:66 Monilethrix (also referred to as \"Beaded hair\") is a rare autosomal dominant hair disease that results... more...

Description from OMIM:48 158000

Aliases & Classifications for Monilethrix

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Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 50 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

50
monilethrix:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

monilethrix 9 10 44 21 22 48 11 46 50
dentatorubral-pallidoluysian atrophy 63
moniliform hair syndrome 50
nodose hair 44
beaded hair 22


External Ids:

Disease Ontology9 DOID:0050472
OMIM48 158000
MeSH36 D056734
MESH via Orphanet37 D056734
ICD10 via Orphanet27 Q84.1
UMLS via Orphanet64 C0546966

Related Diseases for Monilethrix

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Monilethrix via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis30.4DSG4, LIPH
2keratosis30.1IVL, KRT6B, KRT86, KRT6A, KRT16
3cataract10.1
4localized autosomal recessive hypotrichosis10.1
5autosomal recessive hypotrichosis10.1
6nonepidermolytic palmoplantar keratoderma10.1KRTAP11-1
7pilomatrixoma10.1TCHH
8steatocystoma multiplex10.1KRT17, KRT16
9pachyonychia congenita 210.1KRT17, KRT6B
10pachyonychia congenita10.1KRT6A, KRT16
11fibroma10.1IVL
12median rhomboid glossitis10.1KRT6A, KRT6B
13congenital ichthyosiform erythroderma10.0IVL
14diffuse palmoplantar keratoderma, bothnian type10.0KRT17, KRT9, KRT16
15palmoplantar keratoderma, epidermolytic10.0KRT16, KRT9, KRT17
16keratoderma10.0KRT17, KRT9, KRT16
17palmoplantar keratosis10.0KRT17, KRT9, KRT16
18keratoacanthoma10.0IVL, KRT17
19pemphigus vulgaris10.0DSG4, IVL
20lichen planus10.0IVL, KRT16
21cholesteatoma10.0KRT16, IVL
22bowen syndrome10.0KRT16, KRT17, IVL
23argininosuccinic aciduria10.0
24trichotillomania10.0
25alopecia10.0
26hair disease10.0
27hereditary koilonychia10.0
28pili annulati10.0
29pili torti10.0
30hypotrichosis 610.0
31dermatitis10.0KRT16, IVL
32cervical intraepithelial neoplasia10.0KRT17, IVL
33epidermolytic hyperkeratosis10.0KRT16, KRT9, KRT86, KRT2, KRT81
34basal cell carcinoma10.0IVL, TCHH, KRT17, KRT16
35hereditary mucosal leukokeratosis9.9KRT6B, KRT2, KRTAP11-1, KRT9, KRT6A
36psoriasis9.9IVL, KRT17, KRT16
37tongue squamous cell carcinoma9.9IVL, TCHH, KRT17, KRT16
38epidermolysis bullosa simplex9.9KRT16, KRT9, KRT86, KRT2, KRT81, KRT17
39skin disease9.9IVL, TCHH, KRT17, KRT9, KRT6A, KRT16

Graphical network of the top 20 diseases related to Monilethrix:



Diseases related to monilethrix

Symptoms for Monilethrix

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

158000

Clinical features from OMIM:

158000

Symptoms:

50 (show all 18)
  • anomalies of teeth and dentition
  • cataract/lens opacification
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychosis/schizophrenia/maniac disorder
  • autosomal recessive inheritance
  • autosomal dominant inheritance
  • nails anomalies
  • anomalies of eyelids, eyelashes and lacrimal system
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • follicular/erythematous/edematous papules/milium
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • alopecia
  • slow growth of the hair
  • fine hair
  • brittle hair/distrix/trichorrhexis
  • eyebrows anomalies

Drugs & Therapeutics for Monilethrix

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Sources:
43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Monilethrix

Search NIH Clinical Center for Monilethrix

Genetic Tests for Monilethrix

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Sources:
21GeneTests
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Genetic tests related to Monilethrix:

id Genetic test Affiliating Genes
1 Monilethrix21 KRT86

Anatomical Context for Monilethrix

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Sources:
34MalaCards
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MalaCards organs/tissues related to Monilethrix:

34
Skin, Cortex

Animal Models for Monilethrix or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Monilethrix:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9KRT16, KRT6A, KRT2, KRT6B, KRT17
2MP:00011868.4DSG4, LIPH, KRT17, KRT2, KRT9
3MP:00107717.6KRT16, DSG4, LIPH, KRT17, KRT6B, KRT2

Publications for Monilethrix

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Sources:
53PubMed
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Articles related to Monilethrix:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
Monilethrix with variable expressivity. (23960403)
2013
2
Pitfalls and pearls in the diagnosis of monilethrix. (23834295)
2013
3
Monilethrix: a rare hereditary condition. (23723505)
2013
4
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene. (22628999)
2012
5
A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. (22670615)
2012
6
A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. (23554671)
2011
7
Masquerading of trichotillomania in a family with monilethrix. (21224181)
2011
8
Monilethrix in three generations. (19882001)
2008
9
Rapid diagnosis of monilethrix using dermoscopy. (18616771)
2008
10
Dermoscopy as a tool for rapid diagnosis of monilethrix. (17373184)
2007
11
More than one gene involved in monilethrix: intracellular but also extracellular players. (16702971)
2006
12
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (16543896)
2006
13
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. (16439973)
2006
14
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. (15744029)
2005
15
Monilethrix: improvement with acitretin. (16343029)
2005
16
De novo mutations in monilethrix. (14714571)
2003
17
What is your diagnosis? Monilethrix. (14700211)
2003
18
Medical Pearl: an easy way to diagnose severe neonatal monilethrix. (11756955)
2002
19
Keratosis pilaris and hereditary koilonychia without monilethrix. (11568761)
2001
20
Localized monilethrix with improvement after treatment of iron deficiency anaemia. (11730057)
2001
21
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. (10878478)
2000
22
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
23
Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. (10594761)
1999
24
Point mutation in the helix termination peptide (HTP) of human type II hair keratin hHb6 causes monilethrix in five families. (10439241)
1999
25
A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. (9804356)
1998
26
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. (9241275)
1997
27
Monilethrix: a review and case report. (8857664)
1996
28
Monilethrix in pedigree. (20948138)
1996
29
Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13. (8618025)
1996
30
Alopecia in a 19-month-old boy. Monilethrix. (8053707)
1994
31
Topical minoxidil in monilethrix. (1884864)
1991
32
Linkage data on monilethrix. (3356162)
1988
33
Monilethrix treated with the oral retinoid Ro 10-9359 (Tigason). (6627730)
1983
34
Weathering of hair in monilethrix and pili torti. (923155)
1977
35
Letter: Griseofulvin and monilethrix. (4746405)
1973
36
The effect of griseofulvin on hair growth in monilethrix. (4724857)
1973
37
Monilethrix. (4103036)
1971
38
Autoradiographic studies of hair growth and rhythm in monilethrix. (5783770)
1969
39
Monilethrix and keratosis pilaris. (6054238)
1967
40
Monilethrix. (6054239)
1967
41
Argininosuccinic acid in monilethrix. (4158907)
1966
42
KERATIN IN MONILETHRIX. (14290311)
1965
43
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. (14187469)
1964
44
An investigation of monilethrix. (13864139)
1962
45
Monilethrix. (13401564)
1956
46
A case for diagnosis; monilethrix? (18098710)
1948
47
THE INCIDENCE OF MONILETHRIX. (20780271)
1936
48
MONILETHRIX: A SECOND GROUP OF FAMILIAL CASES. (20778933)
1935
49
MONILETHRIX : A GROUP OF TWENTY-TWO CASES. (20777212)
1932
50
Monilethrix. (19987037)
1929

Variations for Monilethrix

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:

65
id Symbol AA change Variation ID SNP ID
1KRT81p.Glu402LysVAR_018116rs56821304
2KRT81p.Glu413LysVAR_018117rs57419521
3KRT83p.Glu407LysVAR_023052
4KRT86p.Asn114AspVAR_018125
5KRT86p.Glu402GlnVAR_018126rs28939669
6KRT86p.Glu402LysVAR_018127
7KRT86p.Glu413LysVAR_018128
8KRT86p.Glu413AspVAR_018129
9KRT86p.Asn114HisVAR_023053

Clinvar genetic disease variations for Monilethrix:

1
id Gene Name Type Significance SNP ID Assembly Location
1KRT83NM_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_002284.3(KRT86): c.1237G> A (p.Glu413Lys)single nucleotide variantPathogenicrs121909129GRCh37Chr 12, 52700054: 52700054
5KRT86NM_002284.3(KRT86): c.1239G> T (p.Glu413Asp)single nucleotide variantPathogenicrs121909130GRCh37Chr 12, 52700056: 52700056
6KRT86NM_002284.3(KRT86): c.1204G> A (p.Glu402Lys)single nucleotide variantPathogenicrs60687604GRCh37Chr 12, 52700021: 52700021
7KRT86NM_002284.3(KRT86): c.340A> G (p.Asn114Asp)single nucleotide variantPathogenicrs61091894GRCh37Chr 12, 52696040: 52696040
8KRT86NM_002284.3(KRT86): c.1204G> C (p.Glu402Gln)single nucleotide variantPathogenicrs60687604GRCh37Chr 12, 52700021: 52700021
9KRT86NM_002284.3(KRT86): c.353C> A (p.Ala118Glu)single nucleotide variantPathogenicrs60612575GRCh37Chr 12, 52696053: 52696053

Expression for genes affiliated with Monilethrix

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Monilethrix

Search GEO for disease gene expression data for Monilethrix.

Pathways for genes affiliated with Monilethrix

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Sources:
51PathCards, 5Cell Signaling Technology, 61Thomson Reuters
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Pathways related to Monilethrix according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5KRT6A, KRT6B, KRT17
29.2KRT16, KRT6A, KRT2, KRT17

Compounds for genes affiliated with Monilethrix

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Sources:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 25HMDB
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Compounds related to Monilethrix according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dithranol469.8KRT16, IVL
2acitretin46 1210.7KRT17, IVL
3calcipotriol46 62 30 1212.7IVL, KRT16
4sodium dodecylsulfate469.5IVL, KRT17, KRT16
5proline469.3KRT16, KRT6A, IVL
6paraffin469.3KRT16, KRT17, IVL
7retinoid469.2KRT16, KRT2, KRT17, IVL
8retinoic acid46 259.7IVL, KRT17, KRT2, KRT16

GO Terms for genes affiliated with Monilethrix

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17Gene Ontology
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Cellular components related to Monilethrix according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058828.7KRT17, KRT2, KRT9, KRT6A, KRT16
2extracellular spaceGO:0056158.6KRT83, KRT9, KRT86, KRT2, KRT81, LIPH
3keratin filamentGO:0450958.2KRT6A, KRT83, KRTAP11-1, KRT86, KRT2, KRT6B
4extracellular vesicular exosomeGO:0700627.6IVL, KRT17, KRT6B, KRT2, KRT9, KRT6A

Biological processes related to Monilethrix according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratinocyte differentiationGO:0302169.7DSG4, IVL
2intermediate filament organizationGO:0451099.7KRT9, KRT17
3ectoderm developmentGO:0073989.5KRT6A, KRT6B
4epidermis developmentGO:0085449.0KRT16, KRT83, KRT9, KRT2, KRT17
5keratinizationGO:0314248.7IVL, TCHH, KRT17, KRT2

Molecular functions related to Monilethrix according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051988.7KRT83, KRTAP11-1, KRT86, KRT81, IVL
2structural constituent of cytoskeletonGO:0052008.1KRT16, KRT17, KRT6B, KRT2, KRT9, KRT6A

Products for genes affiliated with Monilethrix

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Monilethrix

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet