MCID: MNL001
MIFTS: 55

Monilethrix malady

Skin diseases category

Summaries for Monilethrix

About this section
Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: 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 is 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 pigmentation and craniofacial.

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

Description from OMIM:46 158000

Aliases & Classifications for Monilethrix

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

monilethrix 8 9 42 20 21 46 10 44 48
dentatorubral-pallidoluysian atrophy 60
moniliform hair syndrome 48
beaded hair 21
nodose hair 42


External Ids:

Disease Ontology8 DOID:0050472
OMIM46 158000
MeSH34 D056734
MESH via Orphanet35 D056734
ICD10 via Orphanet26 Q84.1
UMLS via Orphanet61 C0546966

Related Diseases for Monilethrix

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis30.3DSG4, LIPH
2keratosis30.1IVL, KRT86, KRT16, KRT6A, KRT6B
3alopecia29.9HOXC13, KRT86
4dentatorubral-pallidoluysian atrophy11.4
5neuronitis10.8
6machado-joseph disease10.7
7cerebritis10.5
8spinocerebellar ataxia10.5
9huntington's disease10.5
10muscular atrophy10.5
11spinal muscular atrophy10.5
12status epilepticus10.3
13central pontine myelinolysis10.3
14brain disease10.3
15cerebellar ataxia10.3
16cerebellar disease10.3
17cervicitis10.3
18corneal degeneration10.3
19paraplegia10.3
20progressive myoclonus epilepsy10.3
21x-linked disease10.3
22spinocerebellar ataxia type 310.3
23spinocerebellar ataxia type 610.3
24nodal-related visceral heterotaxy10.3
25nodal-related holoprosencephaly10.3
26cataract10.1
27ectodermal dysplasia10.0KRT17
28congenital ichthyosiform erythroderma10.0IVL
29pilomatrixoma10.0TCHH
30basal cell carcinoma10.0KRT17
31molluscum contagiosum10.0IVL
32steatocystoma multiplex10.0KRT17, KRT16
33pemphigus foliaceus10.0IVL
34keratoacanthoma10.0IVL, KRT17
35pachyonychia congenita type 210.0KRT6B, KRT17
36bowen syndrome10.0IVL, KRT16, KRT17
37keratoderma10.0KRT17, KRT9, KRT16
38dermatitis10.0KRT16, IVL
39diffuse palmoplantar keratoderma, bothnian type10.0KRT16, KRT9, KRT17
40pachyonychia congenita10.0KRT16, KRT6A
41papilloma10.0IVL
42palmoplantar keratoderma, epidermolytic10.0KRT16, KRT9, KRT17
43nonepidermolytic palmoplantar keratoderma10.0KRT86, KRT16, KRT9
44palmoplantar keratosis10.0KRT16, KRT9, KRT17
45argininosuccinic aciduria10.0
46trichotillomania10.0
47hair disease10.0
48autosomal recessive hypotrichosis10.0
49median rhomboid glossitis10.0KRT6B, KRT6A
50epidermolytic hyperkeratosis10.0KRT86, KRT16, KRT81, KRT2, KRT9

Graphical network of the top 20 diseases related to Monilethrix:



Diseases related to monilethrix

Clinical Features for Monilethrix

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

158000

Clinical synopsis from OMIM:

158000

Symptoms:

48 (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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Monilethrix

Drug clinical trials:

Search ClinicalTrials for Monilethrix

Search NIH Clinical Center for Monilethrix

Search CenterWatch for Monilethrix

Genetic Tests for Monilethrix

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Monilethrix:

id Genetic test Affiliating Genes
1 Monilethrix20 KRT86

Anatomical Context for Monilethrix

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Monilethrix:

32
Skin, Cortex

Animal Models for Monilethrix or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Monilethrix:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3KRT17, KRT2, DSG4, LIPH
2MP:00053828.4HOXC13, KRT16, KRT2, KRT6A, KRT6B, KRT17
3MP:00107717.9KRT17, LIPH, DSG4, HOXC13, KRT16, KRT2

Publications for Monilethrix

About this section
Sources:
50PubMed
See all sources

Articles related to Monilethrix:

(show top 50)    (show all 101)
idTitleAuthorsYear
1
Monilethrix with variable expressivity. (23960403)
2013
2
Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix. (23981620)
2013
3
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene. (22628999)
2012
4
A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. (22670615)
2012
5
Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. (22568869)
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
A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. (21495994)
2011
9
Monilethrix: one step more on the ladder of cytogenetics. (21188018)
2010
10
Rapid diagnosis of monilethrix using dermoscopy. (18616771)
2008
11
Dermoscopy as a tool for rapid diagnosis of monilethrix. (17373184)
2007
12
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (16543896)
2006
13
Severe monilethrix associated with intractable scalp pruritus, posterior subcapsular cataract, brachiocephaly, and distinct facial features: a new variant of monilethrix syndrome? (15283798)
2004
14
Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. (12771477)
2003
15
Medical Pearl: an easy way to diagnose severe neonatal monilethrix. (11756955)
2002
16
Localized monilethrix with improvement after treatment of iron deficiency anaemia. (11730057)
2001
17
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. (10878478)
2000
18
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
19
Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. (10594761)
1999
20
Point mutation in the helix termination peptide (HTP) of human type II hair keratin hHb6 causes monilethrix in five families. (10439241)
1999
21
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. (10504448)
1999
22
Molecular analysis of an extended Palestinian family from Israel with monilethrix. (11336449)
1999
23
A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. (9804356)
1998
24
A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1. (9665406)
1998
25
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. (9241275)
1997
26
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. (9402962)
1997
27
Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity. (9349326)
1997
28
A case of monilethrix treated with etretinate. (7894110)
1995
29
A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13. (8634717)
1995
30
What syndrome is this? Monilethrix syndrome. (8346120)
1993
31
Review and new case reports on scanning electron microscopy of pili annulati, Monilethrix and Trichothiodystrophy. (1462138)
1992
32
Topical minoxidil in monilethrix. (1884864)
1991
33
Monilethrix treated with oral retinoids. (1934581)
1991
34
Linkage data on monilethrix. (3356162)
1988
35
Systemic griseofulvin therapy of monilethrix. (713912)
1978
36
Letter: Pseudo-monilethrix. (1156541)
1975
37
Pseudo-monilethrix: further family studies. (4464239)
1974
38
A previously undescribed hereditary hair anomaly (pseudo-monilethrix). (4726892)
1973
39
Monilethrix. (4103036)
1971
40
Monilethrix and keratosis pilaris. (6054238)
1967
41
Monilethrix. (6054239)
1967
42
Monilethrix. (6062688)
1967
43
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. (14187469)
1964
44
An investigation of monilethrix. (13864139)
1962
45
Monilethrix. A family study. (13979250)
1962
46
Monilethrix; report of three cases with family history. (13580285)
1958
47
Monilethrix: report of a family with special reference to some problems concerning inheritance. (13469795)
1957
48
Monilethrix. (13401564)
1956
49
MONILETHRIX : A GROUP OF TWENTY-TWO CASES. (20777212)
1932
50
Monilethrix. (19987037)
1929

Genetic Variations for Monilethrix

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Monilethrix:

62
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

Expression for genes affiliated with Monilethrix

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
12EMD Millipore
See all sources

Pathways related to Monilethrix according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3KRT17, KRT6A, KRT2, KRT16

Compounds for genes affiliated with Monilethrix

About this section
Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Monilethrix according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dithranol449.6KRT16, IVL
2calcipotriol44 59 28 1112.6KRT16, IVL
3acitretin44 1110.3KRT17, IVL
4sodium dodecylsulfate449.2IVL, KRT16, KRT17
5retinoid449.1KRT17, KRT2, KRT16, IVL

GO Terms for genes affiliated with Monilethrix

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Monilethrix according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeletonGO:0451119.7KRT2, TCHH
2intermediate filamentGO:0058828.4KRT86, KRT16, KRT2, KRT6A, KRT9, KRT17
3keratin filamentGO:0450958.3KRTAP11-1, KRT86, KRT81, KRT2, KRT6A, KRT83

Biological processes related to Monilethrix according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ectoderm developmentGO:0073989.8KRT6B, KRT6A
2intermediate filament organizationGO:0451099.6KRT17, KRT9
3epidermis developmentGO:0085449.1KRT17, KRT9, KRT83, KRT2, KRT16
4keratinizationGO:0314248.7IVL, TCHH, KRT2, KRT17

Molecular functions related to Monilethrix according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051988.7KRTAP11-1, KRT83, KRT81, KRT86, IVL
2structural constituent of cytoskeletonGO:0052008.3KRT17, KRT16, KRT2, KRT6A, KRT6B, KRT9

Products for genes affiliated with Monilethrix

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Monilethrix

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet