MCID: MNL001
MIFTS: 46

Monilethrix malady

Skin category

Summaries for Monilethrix

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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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: Monilethrix, also known as dentatorubral-pallidoluysian atrophy, is related to alopecia and dentatorubral-pallidoluysian atrophy, and has symptoms including autosomal recessive inheritance, seizures/epilepsy/absences/spasms/status epilepticus and intellectual deficit/mental/psychomotor retardation/learning disability. 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 cortex, and related mouse phenotypes are pigmentation and craniofacial.

NIH Rare Diseases:43 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:64 Monilethrix (also referred to as \"Beaded hair\") is a rare autosomal dominant hair disease that results... more...

Description from OMIM:47 158000

Aliases & Classifications for Monilethrix

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
monilethrix:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

monilethrix 8 9 43 20 21 47 10 45 49
dentatorubral-pallidoluysian atrophy 61
moniliform hair syndrome 49
beaded hair 21
nodose hair 43


External Ids:

Disease Ontology8 DOID:0050472
OMIM47 158000
MeSH35 D056734
MESH via Orphanet36 D056734
ICD10 via Orphanet26 Q84.1
UMLS via Orphanet62 C0546966

Related Diseases for Monilethrix

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 60)
idRelated DiseaseScoreTop Affiliating Genes
1alopecia29.9HOXC13, KRT86
2dentatorubral-pallidoluysian atrophy11.4
3dentatorubral atrophy11.4
4machado-joseph disease10.7
5dent's disease10.7
6ataxia10.6
7spinocerebellar ataxia10.6
8myoclonus epilepsy10.6
9cerebral atrophy10.6
10myoclonus10.6
11spinocerebellar atrophy10.6
12muscular atrophy10.5
13spinal muscular atrophy10.5
14spinal-bulbar muscular atrophy10.5
15status epilepticus10.3
16huntington's disease10.3
17friedreich ataxia10.3
18central pontine myelinolysis10.3
19brain disease10.3
20cerebellar degeneration10.3
21cervical dystonia10.3
22myoclonus epilepsy partial seizure10.3
23nodal-related visceral heterotaxy10.3
24nodal-related holoprosencephaly10.3
25chorea10.3
26tremor10.3
27ramsay-hunt syndrome10.3
28autosomal recessive hypotrichosis10.2
29localized autosomal recessive hypotrichosis10.1
30scalp syndrome10.1
31argininosuccinic aciduria10.0
32trichotillomania10.0
33pili torti10.0
34hereditary koilonychia10.0
35pili annulati10.0
36ectodermal dysplasia10.0KRT17
37congenital ichthyosiform erythroderma10.0IVL
38pilomatrixoma10.0TCHH
39basal cell carcinoma10.0KRT17
40molluscum contagiosum10.0IVL
41steatocystoma multiplex10.0KRT17, KRT16
42pemphigus foliaceus10.0IVL
43keratoacanthoma10.0IVL, KRT17
44pachyonychia congenita type 210.0KRT6B, KRT17
45bowen syndrome10.0IVL, KRT16, KRT17
46keratoderma10.0KRT17, KRT9, KRT16
47dermatitis10.0KRT16, IVL
48diffuse palmoplantar keratoderma, bothnian type10.0KRT16, KRT9, KRT17
49pachyonychia congenita10.0KRT16, KRT6A
50papilloma10.0IVL

Graphical network of the top 20 diseases related to Monilethrix:



Diseases related to monilethrix

Clinical Features for Monilethrix

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

158000

Clinical synopsis from OMIM:

158000

Symptoms:

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

Drugs & Therapeutics for Monilethrix

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests
See all sources

Genetic tests related to Monilethrix:

id Genetic test Affiliating Genes
1 Monilethrix20 KRT86

Anatomical Context for Monilethrix

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Monilethrix:

33
Cortex

Animal Models for Monilethrix or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Monilethrix:

37
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

Sources:
51PubMed
See all sources

Articles related to Monilethrix:

(show top 50)    (show all 101)
idTitleAuthorsYear
1
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene. (22628999)
2012
2
Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. (22568869)
2012
3
Monilethrix. (22884362)
2012
4
A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. (23554671)
2011
5
A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. (21495994)
2011
6
Monilethrix: one step more on the ladder of cytogenetics. (21188018)
2010
7
Mutation E402K of the hHb6 in a Chinese Han family with monilethrix. (19505862)
2009
8
Monilethrix in three generations. (19882001)
2008
9
Rapid diagnosis of monilethrix using dermoscopy. (18616771)
2008
10
Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. (18393232)
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
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
Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. (12653715)
2003
19
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. (10878478)
2000
20
Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6. (10878479)
2000
21
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
22
Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. (10594761)
1999
23
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. (10504448)
1999
24
A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. (9804356)
1998
25
Monilethrix. (20921784)
1998
26
Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression. (9832314)
1998
27
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. (9241275)
1997
28
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. (9402962)
1997
29
Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity. (9349326)
1997
30
Monilethrix in pedigree. (20948138)
1996
31
Hair loss in a 6-month-old child. Monilethrix. (8624158)
1996
32
Picture of the month. Monilethrix. (7735410)
1995
33
A case of monilethrix treated with etretinate. (7894110)
1995
34
Alopecia in a 19-month-old boy. Monilethrix. (8053707)
1994
35
Review and new case reports on scanning electron microscopy of pili annulati, Monilethrix and Trichothiodystrophy. (1462138)
1992
36
Monilethrix treated with oral retinoids. (1934581)
1991
37
Pathogenesis of monilethrix: computer stereography and electron microscopy. (2380577)
1990
38
Linkage data on monilethrix. (3356162)
1988
39
Monilethrix. Comparative scanning electron microscopic study of the hair in one family. (7067874)
1982
40
Monilethrix: an electron microscopic and electron histochemical study. (7295569)
1981
41
Pseudo-monilethrix: further family studies. (4464239)
1974
42
A previously undescribed hereditary hair anomaly (pseudo-monilethrix). (4726892)
1973
43
Monilethrix and keratosis pilaris. (6054238)
1967
44
Monilethrix. (6054239)
1967
45
Monilethrix. (6062688)
1967
46
Argininosuccinic acid in monilethrix. (4158907)
1966
47
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. (14187469)
1964
48
Monilethrix; report of three cases with family history. (13580285)
1958
49
Monilethrix: report of a family with special reference to some problems concerning inheritance. (13469795)
1957
50
Monilethrix. (13401564)
1956

Genetic Variations for Monilethrix

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Monilethrix:

63
id Symbol AA change Variation 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

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

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

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank
See all sources

Compounds related to Monilethrix according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dithranol459.6KRT16, IVL
2calcipotriol45 60 29 1112.6KRT16, IVL
3acitretin45 1110.3KRT17, IVL
4sodium dodecylsulfate459.2IVL, KRT16, KRT17
5retinoid459.1KRT17, KRT2, KRT16, IVL

GO Terms for genes affiliated with Monilethrix

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Monilethrix

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet