MCID: MNL001
MIFTS: 56

Monilethrix malady

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

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Genetics Home Reference:21 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 based summary: Monilethrix, also known as dentatorubral-pallidoluysian atrophy, is related to hypotrichosis and keratosis, and has symptoms including eyebrows anomalies, anomalies of eyelids, eyelashes and lacrimal system and hyperkeratosis/ainhum/hyperkeratotic skin fissures. 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 calcipotriol 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:42 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:65 Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in... more...

Description from OMIM:46 158000

Aliases & Classifications for Monilethrix

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Monilethrix, Aliases & Descriptions:

Name: Monilethrix 8 9 42 20 21 46 10 44 48
Dentatorubral-Pallidoluysian Atrophy 62
Moniliform Hair Syndrome 48
 
Beaded Hair 21
Nodose Hair 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
monilethrix:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology8 DOID:0050472
OMIM46 158000
MeSH34 D056734
MESH via Orphanet35 D056734
ICD10 via Orphanet26 Q84.1
UMLS via Orphanet63 C0546966

Related Diseases for Monilethrix

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

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis30.7LIPH, DSG4
2keratosis30.1IVL, KRT6B, KRT86, KRT6A, KRT16
3pilomatrixoma10.4TCHH
4nonepidermolytic palmoplantar keratoderma10.4KRTAP11-1
5fibroma10.4IVL
6steatocystoma multiplex10.3KRT17, KRT16
7pachyonychia congenita 210.3KRT17, KRT6B
8congenital ichthyosiform erythroderma10.3IVL
9pachyonychia congenita10.3KRT6A, KRT16
10median rhomboid glossitis10.3KRT6A, KRT6B
11diffuse palmoplantar keratoderma, bothnian type10.2KRT17, KRT9, KRT16
12palmoplantar keratoderma, epidermolytic10.2KRT17, KRT9, KRT16
13keratoacanthoma10.2KRT17, IVL
14keratoderma10.2KRT16, KRT9, KRT17
15palmoplantar keratosis10.2KRT17, KRT9, KRT16
16pemphigus vulgaris10.2DSG4, IVL
17cataract10.2
18localized autosomal recessive hypotrichosis10.2
19autosomal recessive hypotrichosis10.2
20bowen syndrome10.2IVL, KRT17, KRT16
21lichen planus10.2KRT16, IVL
22cholesteatoma10.1KRT16, IVL
23cervical intraepithelial neoplasia10.1IVL, KRT17
24epidermolytic hyperkeratosis10.0KRT16, KRT9, KRT86, KRT2, KRT81
25psoriasis10.0KRT16, KRT17, IVL
26alopecia10.0
27argininosuccinic aciduria10.0
28trichotillomania10.0
29hair disease10.0
30hereditary koilonychia10.0
31pili annulati10.0
32pili torti10.0
33hypotrichosis 610.0
34basal cell carcinoma10.0KRT16, KRT17, TCHH, IVL
35hereditary mucosal leukokeratosis9.9KRT6B, KRT2, KRTAP11-1, KRT9, KRT6A
36tongue squamous cell carcinoma9.7KRT16, KRT17, TCHH, IVL
37epidermolysis bullosa simplex9.7KRT16, KRT9, KRT86, KRT2, KRT81, KRT17
38skin disease9.7IVL, 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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Symptoms by clinical synopsis from OMIM:

158000

Clinical features from OMIM:

158000

Symptoms:

48 (show all 18)
  • eyebrows 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
  • nails anomalies
  • autosomal dominant inheritance
  • 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

HPO human phenotypes related to Monilethrix:

(show all 23)
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 abnormality of the nail hallmark (90%) HP:0001597
5 fine hair hallmark (90%) HP:0002213
6 slow-growing hair hallmark (90%) HP:0002217
7 abnormality of the teeth typical (50%) HP:0000164
8 abnormality of the teeth occasional (7.5%) HP:0000164
9 cataract occasional (7.5%) HP:0000518
10 behavioral abnormality occasional (7.5%) HP:0000708
11 seizures occasional (7.5%) HP:0001250
12 cognitive impairment occasional (7.5%) HP:0100543
13 autosomal dominant inheritance HP:0000006
14 hypotrichosis HP:0001006
15 heterogeneous HP:0001425
16 alopecia HP:0001596
17 abnormality of metabolism/homeostasis HP:0001939
18 nail dysplasia HP:0002164
19 brittle hair HP:0002299
20 infantile onset HP:0003593
21 variable expressivity HP:0003828
22 perifollicular hyperkeratosis HP:0007468
23 nail dystrophy HP:0008404

Drugs & Therapeutics for Monilethrix

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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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Genetic tests related to Monilethrix:

id Genetic test Affiliating Genes
1 Monilethrix20 KRT86

Anatomical Context for Monilethrix

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MalaCards organs/tissues related to Monilethrix:

32
Skin, Cortex

Animal Models for Monilethrix or affiliated genes

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MGI Mouse Phenotypes related to Monilethrix:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8KRT17, KRT6B, KRT2, KRT6A, KRT16
2MP:00011868.7DSG4, LIPH, KRT17, KRT2, KRT9
3MP:00053868.6KRT16, KRT6A, KRT9, KRT6B, ESRRB, ATN1
4MP:00053788.0ATN1, DSG4, ESRRB, KRT6B, KRT9, KRT6A
5MP:00107717.8KRT16, DSG4, LIPH, KRT17, KRT6B, KRT2

Publications for Monilethrix

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Articles related to Monilethrix:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Monilethrix, a rare inherited hair shaft disorder in siblings. (25165660)
2014
2
Monilethrix with variable expressivity. (23960403)
2013
3
Pitfalls and pearls in the diagnosis of monilethrix. (23834295)
2013
4
Monilethrix: a rare hereditary condition. (23723505)
2013
5
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene. (22628999)
2012
6
A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. (22670615)
2012
7
A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. (23554671)
2011
8
Masquerading of trichotillomania in a family with monilethrix. (21224181)
2011
9
Monilethrix in three generations. (19882001)
2008
10
Rapid diagnosis of monilethrix using dermoscopy. (18616771)
2008
11
Dermoscopy as a tool for rapid diagnosis of monilethrix. (17373184)
2007
12
More than one gene involved in monilethrix: intracellular but also extracellular players. (16702971)
2006
13
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (16543896)
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
Alopecia in a 19-month-old boy. Monilethrix. (8053707)
1994
30
Topical minoxidil in monilethrix. (1884864)
1991
31
Linkage data on monilethrix. (3356162)
1988
32
Monilethrix treated with the oral retinoid Ro 10-9359 (Tigason). (6627730)
1983
33
Monilethrix: an electron microscopic and electron histochemical study. (7295569)
1981
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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UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:

64
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:

6
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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Expression patterns in normal tissues for genes affiliated with Monilethrix

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Pathways for genes affiliated with Monilethrix

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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:
44Novoseek, 61Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB
See all sources

Compounds related to Monilethrix according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dithranol449.8IVL, KRT16
2calcipotriol44 61 28 1112.7KRT16, IVL
3sodium dodecylsulfate449.4KRT16, KRT17, IVL
4acitretin44 1110.4KRT17, IVL
5lysine449.2IVL, ESRRB, KRT2, KRT86
6retinoid449.0KRT16, KRT2, KRT17, ESRRB, IVL
7retinoic acid44 249.7IVL, ESRRB, KRT17, KRT2, KRT16

GO Terms for genes affiliated with Monilethrix

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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:0450958.3KRT6A, 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:0051988.8KRT83, 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

Sources for Monilethrix

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet