MCID: MNL001
MIFTS: 46

Monilethrix malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Monilethrix

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Monilethrix:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
monilethrix:
Onset and clinical course: variable expressivity, infantile onset
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 158000
Disease Ontology10 DOID:0050472
ICD1027 Q84.1
MeSH36 D056734
NCIt42 C84894
Orphanet51 573
UMLS via Orphanet66 C0546966
ICD10 via Orphanet28 Q84.1
MESH via Orphanet37 D056734
MedGen34 C0546966
UMLS65 C0546966

Summaries for Monilethrix

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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 hypotrichosis 6 and steatocystoma multiplex, and has symptoms including slow-growing hair, fine hair and alopecia. An important gene associated with Monilethrix is KRT83 (Keratin 83), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, prostate and endothelial.

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.

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.

Wikipedia:68 Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in... more...

Related Diseases for Monilethrix

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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:

 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 18)
id Description Frequency HPO Source Accession
1 slow-growing hair hallmark (90%) HP:0002217
2 fine hair hallmark (90%) HP:0002213
3 alopecia hallmark (90%) HP:0001596
4 hyperkeratosis hallmark (90%) HP:0000962
5 abnormality of the eyebrow hallmark (90%) HP:0000534
6 abnormality of the teeth typical (50%) HP:0000164
7 cognitive impairment occasional (7.5%) HP:0100543
8 seizures occasional (7.5%) HP:0001250
9 behavioral abnormality occasional (7.5%) HP:0000708
10 cataract occasional (7.5%) HP:0000518
11 abnormality of the teeth occasional (7.5%) HP:0000164
12 nail dystrophy HP:0008404
13 perifollicular hyperkeratosis HP:0007468
14 brittle hair HP:0002299
15 nail dysplasia HP:0002164
16 abnormality of metabolism/homeostasis HP:0001939
17 alopecia HP:0001596
18 hypotrichosis HP:0001006

Drugs & Therapeutics for Monilethrix

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Monilethrix


Cochrane evidence based reviews: monilethrix

Genetic Tests for Monilethrix

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Genetic tests related to Monilethrix:

id Genetic test Affiliating Genes
1 Monilethrix22

Anatomical Context for Monilethrix

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MalaCards organs/tissues related to Monilethrix:

33
Skin, Prostate, Endothelial, Neutrophil, T cells, Tonsil, Ovary

Animal Models for Monilethrix or affiliated genes

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Publications for Monilethrix

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Articles related to Monilethrix:

(show top 50)    (show all 111)
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
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
THE INCIDENCE OF MONILETHRIX. (20780271)
1936
47
MONILETHRIX: A SECOND GROUP OF FAMILIAL CASES. (20778933)
1935
48
MONILETHRIX : A GROUP OF TWENTY-TWO CASES. (20777212)
1932
49
Monilethrix. (19987037)
1929
50

Variations for Monilethrix

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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
1NM_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_001320198.1(KRT86): c.1237G> A (p.Glu413Lys)single nucleotide variantPathogenicrs121909129GRCh37Chr 12, 52700054: 52700054
5NM_001320198.1(KRT86): c.1239G> T (p.Glu413Asp)single nucleotide variantPathogenicrs121909130GRCh37Chr 12, 52700056: 52700056
6NM_001320198.1(KRT86): c.1204G> A (p.Glu402Lys)single nucleotide variantPathogenicrs60687604GRCh37Chr 12, 52700021: 52700021
7NM_001320198.1(KRT86): c.340A> G (p.Asn114Asp)single nucleotide variantPathogenicrs61091894GRCh37Chr 12, 52696040: 52696040
8NM_001320198.1(KRT86): c.1204G> C (p.Glu402Gln)single nucleotide variantPathogenicrs60687604GRCh37Chr 12, 52700021: 52700021
9NM_001320198.1(KRT86): c.353C> A (p.Ala118Glu)single nucleotide variantPathogenicrs60612575GRCh37Chr 12, 52696053: 52696053

Expression for genes affiliated with Monilethrix

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Search GEO for disease gene expression data for Monilethrix.

Pathways for genes affiliated with Monilethrix

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Pathways related to Monilethrix according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.6KRT16, KRT17, KRT2, KRT6A

GO Terms for genes affiliated with Monilethrix

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.4KRT2, KRT9
2keratin filamentGO:00450959.2KRT2, KRT6A

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeleton organizationGO:00451049.2KRT16, KRT6A
2epidermis developmentGO:00085448.9KRT16, KRT17, KRT83, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.5KRT16, KRT6A

Sources for Monilethrix

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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