MCID: MNL001
MIFTS: 51

Monilethrix malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Monilethrix

About this section
Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Monilethrix, Aliases & Descriptions:

Name: Monilethrix 45 9 10 41 20 21 11 43 47
Moniliform Hair Syndrome 41 47
 
Beaded Hair 21 22
Nodose Hair 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
monilethrix:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 158000
Disease Ontology9 DOID:0050472
MeSH33 D056734
Orphanet47 573
MESH via Orphanet34 D056734
ICD10 via Orphanet26 Q84.1
UMLS via Orphanet61 C0546966

Summaries for Monilethrix

About this section


OMIM:45 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 moniliform hair syndrome, is related to hypotrichosis and keratosis, and has symptoms including abnormality of the eyebrow, hyperkeratosis and alopecia. 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:41 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

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.

Wikipedia:63 Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in... more...

Related Diseases for Monilethrix

About this section

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis30.7LIPH, DSG4
2keratosis29.8KRT6A, KRT6B, IVL, KRT86, KRT16
3palmoplantar keratoderma, nonepidermolytic10.4KRTAP11-1
4colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.4TCHH
5steatocystoma multiplex10.3KRT16, KRT17
6pachyonychia congenita 210.3KRT17, KRT6B
7pachyonychia congenita 110.3KRT16, KRT6A
8fibroma10.2IVL
9median rhomboid glossitis10.2KRT6B, KRT6A
10congenital ichthyosiform erythroderma10.2IVL
11cataract10.2
12unna-thost palmoplantar keratoderma10.1KRT16, KRT9, KRT17
13palmoplantar keratoderma, epidermolytic10.1KRT16, KRT9, KRT17
14keratoderma10.1KRT17, KRT9, KRT16
15palmoplantar keratosis10.1KRT16, KRT17, KRT9
16keratoacanthoma10.1IVL, KRT17
17pemphigus vulgaris10.0IVL, DSG4
18lichen planus10.0IVL, KRT16
19argininosuccinic aciduria10.0
20holt-oram syndrome10.0
21trichotillomania10.0
22hypotrichosis 610.0
23trichothiodystrophy10.0
24alopecia10.0
25hair disease10.0
26hereditary koilonychia10.0
27pili annulati10.0
28pili torti10.0
29pachyonychia congenita10.0KRT6B, KRT16, KRT6A, KRT17
30cholesteatoma10.0IVL, KRT16
31bowen syndrome10.0IVL, KRT17, KRT16
32dermatitis10.0IVL, KRT16
33cervical intraepithelial neoplasia10.0IVL, KRT17
34epidermolytic hyperkeratosis9.9KRT81, KRT16, KRT9, KRT86, KRT2
35basal cell carcinoma9.8IVL, TCHH, KRT17, KRT16
36white sponge nevus 19.7KRT6B, KRT6A, KRTAP11-1, KRT2, KRT9
37psoriasis9.7KRT17, IVL, KRT16
38tongue squamous cell carcinoma9.6IVL, TCHH, KRT16, KRT17
39epidermolysis bullosa simplex9.4KRT86, KRT81, KRT17, IVL, KRT9, KRT2
40skin disease9.4TCHH, IVL, KRT6A, KRT9, KRT16, KRT17

Graphical network of the top 20 diseases related to Monilethrix:



Diseases related to monilethrix

Symptoms for Monilethrix

About this section

Symptoms by clinical synopsis from OMIM:

158000

Clinical features from OMIM:

158000

Symptoms:

 47 (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

About this section

Drug clinical trials:

Search ClinicalTrials for Monilethrix

Search NIH Clinical Center for Monilethrix

Genetic Tests for Monilethrix

About this section

Genetic tests related to Monilethrix:

id Genetic test Affiliating Genes
1 Monilethrix20 KRT86
2 Beaded Hair22

Anatomical Context for Monilethrix

About this section

MalaCards organs/tissues related to Monilethrix:

31
Skin, Cortex

Animal Models for Monilethrix or affiliated genes

About this section

MGI Mouse Phenotypes related to Monilethrix:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9KRT17, KRT6B, KRT2, KRT6A, KRT16
2MP:00011868.4KRT9, KRT2, KRT17, LIPH, DSG4
3MP:00107717.6KRT6B, KRT17, DSG4, KRT2, KRT9, KRT6A

Publications for Monilethrix

About this section

Articles related to Monilethrix:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Novel KRT83 and KRT86 mutations associated with monilethrix. (25557232)
2015
2
Monilethrix with holt-oram syndrome: case report of a rare association. (25878448)
2015
3
Monilethrix, a rare inherited hair shaft disorder in siblings. (25165660)
2014
4
Monilethrix with variable expressivity. (23960403)
2013
5
Pitfalls and pearls in the diagnosis of monilethrix. (23834295)
2013
6
Monilethrix: a rare hereditary condition. (23723505)
2013
7
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene. (22628999)
2012
8
A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. (22670615)
2012
9
A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. (23554671)
2011
10
Masquerading of trichotillomania in a family with monilethrix. (21224181)
2011
11
Monilethrix in three generations. (19882001)
2008
12
Rapid diagnosis of monilethrix using dermoscopy. (18616771)
2008
13
Dermoscopy as a tool for rapid diagnosis of monilethrix. (17373184)
2007
14
More than one gene involved in monilethrix: intracellular but also extracellular players. (16702971)
2006
15
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (16543896)
2006
16
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. (15744029)
2005
17
Monilethrix: improvement with acitretin. (16343029)
2005
18
De novo mutations in monilethrix. (14714571)
2003
19
What is your diagnosis? Monilethrix. (14700211)
2003
20
Medical Pearl: an easy way to diagnose severe neonatal monilethrix. (11756955)
2002
21
Keratosis pilaris and hereditary koilonychia without monilethrix. (11568761)
2001
22
Localized monilethrix with improvement after treatment of iron deficiency anaemia. (11730057)
2001
23
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. (10878478)
2000
24
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
25
Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. (10594761)
1999
26
Point mutation in the helix termination peptide (HTP) of human type II hair keratin hHb6 causes monilethrix in five families. (10439241)
1999
27
A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. (9804356)
1998
28
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. (9241275)
1997
29
Monilethrix: a review and case report. (8857664)
1996
30
Monilethrix in pedigree. (20948138)
1996
31
Alopecia in a 19-month-old boy. Monilethrix. (8053707)
1994
32
Topical minoxidil in monilethrix. (1884864)
1991
33
Linkage data on monilethrix. (3356162)
1988
34
Monilethrix treated with the oral retinoid Ro 10-9359 (Tigason). (6627730)
1983
35
Monilethrix: an electron microscopic and electron histochemical study. (7295569)
1981
36
Weathering of hair in monilethrix and pili torti. (923155)
1977
37
Letter: Griseofulvin and monilethrix. (4746405)
1973
38
Monilethrix. (4103036)
1971
39
Autoradiographic studies of hair growth and rhythm in monilethrix. (5783770)
1969
40
Monilethrix and keratosis pilaris. (6054238)
1967
41
Monilethrix. (6054239)
1967
42
Argininosuccinic acid in monilethrix. (4158907)
1966
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

About this section

UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Monilethrix:

6
id Gene Variation 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

About this section
Search GEO for disease gene expression data for Monilethrix.

Pathways for genes affiliated with Monilethrix

About this section

Pathways related to Monilethrix according to GeneCards Suite gene sharing:

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

Compounds for genes affiliated with Monilethrix

About this section
Sources:
43Novoseek, 12DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB
See all sources

Compounds related to Monilethrix according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1dithranol439.8KRT16, IVL
2acitretin43 1210.7KRT17, IVL
3calcipotriol43 59 28 1212.7IVL, KRT16
4sodium dodecylsulfate439.5IVL, KRT17, KRT16
5proline439.3KRT16, KRT6A, IVL
6paraffin439.3KRT16, KRT17, IVL
7retinoid439.2KRT16, KRT2, KRT17, IVL
8retinoic acid43 249.7IVL, KRT17, KRT2, KRT16

GO Terms for genes affiliated with Monilethrix

About this section

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058828.7KRT6A, KRT2, KRT17, KRT16, KRT9
2extracellular spaceGO:00056158.6LIPH, KRT81, KRT2, KRT86, KRT9, KRT83
3keratin filamentGO:00450958.2KRT83, KRT6B, KRT2, KRT86, KRTAP11-1, KRT6A
4extracellular vesicular exosomeGO:00700627.6KRT6A, KRT9, KRT2, KRT6B, KRT17, KRT16

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

idNameGO IDScoreTop Affiliating Genes
1keratinocyte differentiationGO:00302169.7DSG4, IVL
2intermediate filament organizationGO:00451099.7KRT9, KRT17
3ectoderm developmentGO:00073989.5KRT6A, KRT6B
4epidermis developmentGO:00085449.0KRT16, KRT83, KRT9, KRT2, KRT17
5keratinizationGO:00314248.7IVL, TCHH, KRT17, KRT2

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051988.7IVL, KRT81, KRT86, KRTAP11-1, KRT83
2structural constituent of cytoskeletonGO:00052008.1KRT17, KRT6B, KRT2, KRT9, KRT6A, KRT16

Products for genes affiliated with Monilethrix

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Monilethrix

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet