MCID: MNL001
MIFTS: 50

Monilethrix malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Monilethrix

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Monilethrix:

Name: Monilethrix 49 10 11 45 22 23 47 12 51 36 67
Beaded Hair 23 24
Moniliform Hair Syndrome 51
 
Nodose Hair 45
Mnlix 67


Classifications:

Orphanet: 51 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

51
monilethrix:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 158000
Disease Ontology10 DOID:0050472
MeSH36 D056734
Orphanet51 573
ICD10 via Orphanet28 Q84.1
MESH via Orphanet37 D056734
UMLS via Orphanet66 C0546966
MedGen34 C0546966

Summaries for Monilethrix

About this section
OMIM:49 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 beaded hair, is related to pili torti and hypotrichosis, and has symptoms including abnormality of the eyebrow, hyperkeratosis and alopecia. An important gene associated with Monilethrix is KRT83 (Keratin 83, Type II), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin and cortex, and related mouse phenotypes are pigmentation and integument.

Genetics Home Reference:23 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.

NIH Rare Diseases:45 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: 10/5/2015

UniProtKB/Swiss-Prot:67 Monilethrix: A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.

Wikipedia:68 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 44)
idRelated DiseaseScoreTop Affiliating Genes
1pili torti30.2KRT16, KRT17
2hypotrichosis10.3
3hypotrichosis 610.3
4cataract10.2
5keratosis10.2
6tongue cancer10.1KRT16, KRT17
7perinatal jaundice due to hepatocellular damage10.1DSG4, TGM1
8steatocystoma multiplex10.1KRT16, KRT17
9ichthyosis histrix, curth-macklin type10.1KRT16, KRT9
10keratosis palmoplantaris striata iii10.1KRT16, KRT9
11sclerosteosis 110.1KRT16, KRT17
12ichthyosis, cyclic, with epidermolytic hyperkeratosis10.1KRT16, KRT9
13wt1-related disorders10.1LIPH, LPAR6
14bowenoid papulosis10.1KRT16, KRT17
15argininosuccinic aciduria10.0
16holt-oram syndrome10.0
17hypotrichosis 810.0
18trichotillomania10.0
19alopecia10.0
20hair disease10.0
21hereditary koilonychia10.0
22pili annulati10.0
23keratoconjunctivitis10.0KRT16, KRT17
24ichthyosis alopecia eclabion ectropion mental retardation10.0KRT2, TGM1
25arterial calcification of infancy10.0KRT16, KRT17
26obesity with impaired prohormone processing10.0KRT16, KRT6A
27obesity bmiq1210.0KRT16, KRT6A
28ichthyosiform erythroderma, corneal involvement, deafness10.0DSG4, LIPH, LPAR6
29palmoplantar keratoderma, epidermolytic10.0KRT16, KRT17, KRT9
30hypertensive heart disease9.9KRT16, KRT6A
31worster drought syndrome9.9KRT74, LIPH, LPAR6
32pancoast tumor9.9KRT16, KRT9
33familiar ovarian carcinoma9.8KRT16, KRT17, KRT6A
34foxg1 syndrome9.8KRT16, KRT17, KRT6A
35glossopharyngeal nerve disease9.8KRT16, KRT17, KRT6A
36palmoplantar keratoderma, nonepidermolytic9.8KRT16, KRT17, KRT9, TGM1
37asthenopia9.8KRT2, KRT81, KRT9, TGM1
38idiopathic generalized epilepsy9.7DSG4, KRT74, KRT86, LIPH, LPAR6
39brugada syndrome9.6KRT16, KRT17, KRT6A, KRT9
40hair follicle neoplasm9.6DSG4, KRT74, KRT81, KRT86, LIPH, LPAR6
41small intestine lymphoma9.4DSG4, KRT16, KRT17, KRT6A, KRT9, TGM1
42white sponge nevus 19.3KRT16, KRT2, KRT6A, KRT74, KRT86, KRT9
43epidermolytic hyperkeratosis9.3KRT16, KRT17, KRT2, KRT6A, KRT9, TGM1
44monilethrix8.3DSG4, KRT16, KRT17, KRT2, KRT6A, KRT74

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:

 51 (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 21)
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 fine hair hallmark (90%) HP:0002213
5 slow-growing hair hallmark (90%) HP:0002217
6 abnormality of the teeth typical (50%) HP:0000164
7 abnormality of the teeth occasional (7.5%) HP:0000164
8 cataract occasional (7.5%) HP:0000518
9 behavioral abnormality occasional (7.5%) HP:0000708
10 seizures occasional (7.5%) HP:0001250
11 cognitive impairment occasional (7.5%) HP:0100543
12 autosomal dominant inheritance HP:0000006
13 hypotrichosis HP:0001006
14 alopecia HP:0001596
15 abnormality of metabolism/homeostasis HP:0001939
16 nail dysplasia HP:0002164
17 brittle hair HP:0002299
18 infantile onset HP:0003593
19 variable expressivity HP:0003828
20 perifollicular hyperkeratosis HP:0007468
21 nail dystrophy HP:0008404

Drugs & Therapeutics for Monilethrix

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Monilethrix


Cochrane evidence based reviews: Monilethrix

Genetic Tests for Monilethrix

About this section

Genetic tests related to Monilethrix:

id Genetic test Affiliating Genes
1 Monilethrix22 KRT81, KRT83, KRT86
2 Beaded Hair24

Anatomical Context for Monilethrix

About this section

MalaCards organs/tissues related to Monilethrix:

33
Skin, Cortex

Animal Models for Monilethrix or affiliated genes

About this section

MGI Mouse Phenotypes related to Monilethrix:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.2DSG4, KRT17, KRT2, KRT9, LIPH
2MP:00107716.6DSG4, KRT16, KRT17, KRT2, KRT6A, KRT9

Publications for Monilethrix

About this section

Articles related to Monilethrix:

(show top 50)    (show all 109)
idTitleAuthorsYear
1
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. (26173648)
2015
2
Novel KRT83 and KRT86 mutations associated with monilethrix. (25557232)
2015
3
Monilethrix with holt-oram syndrome: case report of a rare association. (25878448)
2015
4
Monilethrix, a rare inherited hair shaft disorder in siblings. (25165660)
2014
5
Monilethrix with variable expressivity. (23960403)
2013
6
Pitfalls and pearls in the diagnosis of monilethrix. (23834295)
2013
7
Monilethrix: a rare hereditary condition. (23723505)
2013
8
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene. (22628999)
2012
9
A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. (22670615)
2012
10
A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. (23554671)
2011
11
Masquerading of trichotillomania in a family with monilethrix. (21224181)
2011
12
Monilethrix in three generations. (19882001)
2008
13
Rapid diagnosis of monilethrix using dermoscopy. (18616771)
2008
14
Dermoscopy as a tool for rapid diagnosis of monilethrix. (17373184)
2007
15
More than one gene involved in monilethrix: intracellular but also extracellular players. (16702971)
2006
16
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (16543896)
2006
17
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. (15744029)
2005
18
Monilethrix: improvement with acitretin. (16343029)
2005
19
De novo mutations in monilethrix. (14714571)
2003
20
What is your diagnosis? Monilethrix. (14700211)
2003
21
Medical Pearl: an easy way to diagnose severe neonatal monilethrix. (11756955)
2002
22
Keratosis pilaris and hereditary koilonychia without monilethrix. (11568761)
2001
23
Localized monilethrix with improvement after treatment of iron deficiency anaemia. (11730057)
2001
24
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. (10878478)
2000
25
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
26
Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. (10594761)
1999
27
Point mutation in the helix termination peptide (HTP) of human type II hair keratin hHb6 causes monilethrix in five families. (10439241)
1999
28
A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. (9804356)
1998
29
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. (9241275)
1997
30
Monilethrix: a review and case report. (8857664)
1996
31
Monilethrix in pedigree. (20948138)
1996
32
Alopecia in a 19-month-old boy. Monilethrix. (8053707)
1994
33
Topical minoxidil in monilethrix. (1884864)
1991
34
Linkage data on monilethrix. (3356162)
1988
35
Monilethrix treated with the oral retinoid Ro 10-9359 (Tigason). (6627730)
1983
36
Monilethrix: an electron microscopic and electron histochemical study. (7295569)
1981
37
Weathering of hair in monilethrix and pili torti. (923155)
1977
38
Letter: Griseofulvin and monilethrix. (4746405)
1973
39
Monilethrix. (4103036)
1971
40
Autoradiographic studies of hair growth and rhythm in monilethrix. (5783770)
1969
41
Monilethrix and keratosis pilaris. (6054238)
1967
42
Monilethrix. (6054239)
1967
43
Argininosuccinic acid in monilethrix. (4158907)
1966
44
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. (14187469)
1964
45
An investigation of monilethrix. (13864139)
1962
46
Monilethrix. (13401564)
1956
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:

67 (show all 13)
id Symbol AA change Variation ID SNP ID
1KRT81p.Glu402LysVAR_018116rs56821304
2KRT81p.Glu413LysVAR_018117rs57419521
3KRT81p.Arg408CysVAR_073048
4KRT83p.Glu407LysVAR_023052
5KRT83p.Glu418LysVAR_073049
6KRT86p.Asn114AspVAR_018125
7KRT86p.Glu402GlnVAR_018126rs28939669
8KRT86p.Glu402LysVAR_018127
9KRT86p.Glu413LysVAR_018128
10KRT86p.Glu413AspVAR_018129
11KRT86p.Asn114HisVAR_023053
12KRT86p.Leu409ProVAR_073050
13KRT86p.Leu410ProVAR_073051

Clinvar genetic disease variations for Monilethrix:

5
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
4NM_002284.3(KRT86): c.1237G> A (p.Glu413Lys)single nucleotide variantPathogenicrs121909129GRCh37Chr 12, 52700054: 52700054
5NM_002284.3(KRT86): c.1239G> T (p.Glu413Asp)single nucleotide variantPathogenicrs121909130GRCh37Chr 12, 52700056: 52700056
6NM_002284.3(KRT86): c.1204G> A (p.Glu402Lys)single nucleotide variantPathogenicrs60687604GRCh37Chr 12, 52700021: 52700021
7NM_002284.3(KRT86): c.340A> G (p.Asn114Asp)single nucleotide variantPathogenicrs61091894GRCh37Chr 12, 52696040: 52696040
8NM_002284.3(KRT86): c.1204G> C (p.Glu402Gln)single nucleotide variantPathogenicrs60687604GRCh37Chr 12, 52700021: 52700021
9NM_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
1
Show member pathways
8.4KRT16, KRT17, KRT2, KRT6A

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
1keratin filamentGO:00450958.5KRT2, KRT6A, KRT74, KRT81, KRT83, KRT86
2extracellular spaceGO:00056157.7KRT2, KRT81, KRT83, KRT86, KRT9, LIPH
3intermediate filamentGO:00058827.3KRT16, KRT17, KRT2, KRT6A, KRT74, KRT81
4extracellular exosomeGO:00700626.8KRT16, KRT17, KRT2, KRT6A, KRT74, KRT86

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1hair cycleGO:004263310.3KRT16, KRT83
2keratinocyte migrationGO:005154610.1KRT16, KRT2
3intermediate filament organizationGO:00451099.9KRT17, KRT9
4keratinocyte differentiationGO:00302169.4DSG4, KRT16, TGM1
5intermediate filament cytoskeleton organizationGO:00451049.1KRT16, KRT6A, KRT74
6keratinizationGO:00314249.0KRT16, KRT17, KRT2, TGM1
7morphogenesis of an epitheliumGO:00020098.9KRT16, KRT17, KRT6A
8epidermis developmentGO:00085448.2KRT16, KRT17, KRT2, KRT83, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052007.9KRT16, KRT17, KRT2, KRT6A, KRT9
2structural molecule activityGO:00051986.4KRT16, KRT17, KRT2, KRT6A, KRT74, KRT81

Sources for Monilethrix

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet