MCID: MNL001
MIFTS: 48

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 hypotrichosis 8, 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, t cells and eye.

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, T cells, Eye, Lung, Neutrophil, Thyroid, 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 109)
idTitleAuthorsYear
1
Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients. (26457356)
2015
2
Nodular scleritis as the eye manifestation in Behcet's syndrome. (25709277)
2015
3
Comment on "Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: Report of a new case and review of the literature" by Azzolini S et al. Brain & Development 2014;36:716-720. (25863745)
2015
4
Diagnosis of pulmonary sequestration: Contribution of the CT scan. (26375753)
2015
5
Epigenetic mechanisms, T-cell activation, and CCR5 genetics interact to regulate T-cell expression of CCR5, the major HIV-1 coreceptor. (26307764)
2015
6
De novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy and Cerebellar Atrophy. (25265257)
2014
7
Increased serum visfatin as a risk factor for atherosclerosis in patients with ischaemic cerebrovascular disease. (25091888)
2014
8
Early cardiac gene transcript levels in peripheral blood mononuclear cells reflect severity in stable coronary artery disease. (24681789)
2014
9
Craniectomy in acute ischemic stroke. (24402484)
2014
10
Screening for Lung Cancer: U.S. Preventive Services Task Force Recommendation Statement. (24378917)
2013
11
Highly recurrent TERT promoter mutations in human melanoma. (23348506)
2013
12
Foetal presentation of long QT syndrome. (23882882)
2013
13
Increased expression of insulin-like growth factor-1 receptor is correlated with tumor metastasis and prognosis in patients with osteosarcoma. (21866554)
2012
14
New optical coherence tomography fundus findings in a case of beta-thalassemia. (23277736)
2012
15
A seeding reaction recapitulates intracellular formation of Sarkosyl-insoluble transactivation response element (TAR) DNA-binding protein-43 inclusions. (21454603)
2011
16
Induction of cell surface human leukocyte antigen-G expression in pandemic H1N1 2009 and seasonal H1N1 influenza virus-infected patients. (21087648)
2011
17
Associations of MDM2 SNP309, transcriptional activity, mRNA expression, and survival in stage I non-small-cell lung cancer patients with wild-type p53 tumors. (19941079)
2010
18
No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients. (18585117)
2008
19
Effects of N-acetylcysteine and glutathione ethyl ester drops on streptozotocin-induced diabetic cataract in rats. (18490958)
2008
20
Coexistence of squamous cell carcinoma with dermoid cyst of ovary. (18417868)
2008
21
Risk factors for post-treatment hypogonadism in testicular cancer patients. (18362304)
2008
22
Diagnosing Alport syndrome using electron microscopy of the skin. (18195703)
2008
23
Evaluation of platelet and leukocyte functions in effort angina patients using high shear conditions in small-sized collagen bead columns. (17911196)
2007
24
Circulation of CD34+ progenitor cell populations in patients with idiopathic dilated and ischaemic cardiomyopathy (DCM and ICM). (17395679)
2007
25
Activation state-dependent interaction between Galphai and p67phox. (16782902)
2006
26
Activation of the Fanconi anemia/BRCA pathway and recombination repair in the cellular response to solar ultraviolet light. (17145857)
2006
27
Brief review of the recently described short QT syndrome and other cardiac channelopathies. (16029390)
2005
28
Reverse transcriptase inhibitors down-regulate cell proliferation in vitro and in vivo and restore thyrotropin signaling and iodine uptake in human thyroid anaplastic carcinoma. (16030158)
2005
29
Altered P-glycoprotein expression in AIDS patients with HIV encephalitis. (15535131)
2004
30
Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia. (15015036)
2004
31
Combination of cytology, fluorescence in situ hybridization for aneuploidy, and reverse-transcriptase polymerase chain reaction for human mammaglobin/mammaglobin B expression improves diagnosis of malignant effusions. (14752070)
2004
32
Protein Z: a new regulator of coagulation in arterial vessels?]. (15314579)
2004
33
Endothelin-1 synthesis and secretion in human retinal pigment epithelial cells (ARPE-19): differential regulation by cholinergics and TNF-alpha. (14578413)
2003
34
Rab5a and rab11a mediate agonist-induced trafficking of protease-activated receptor 2. (12540381)
2003
35
Topical 5-fluorouracil to treat multiple or unresectable facial squamous cell carcinomas in xeroderma pigmentosum. (11369927)
2001
36
Pathways through which a regimen of melatonin and retinoic acid induces apoptosis in MCF-7 human breast cancer cells. (10965999)
2000
37
Expression of endothelin 3 by mesenchymal cells of embryonic mouse caecum. (9895385)
1999
38
Elevated CSF lactoferrin in superficial siderosis of the central nervous system. (10552243)
1999
39
Fatal cervical spondyloarthropathy in a hemodialysis patient with systemic deposition of beta2-microglobulin amyloid. (10070922)
1999
40
Activation and inhibition of skeletal RyR channels by a part of the skeletal DHPR II-III loop: effects of DHPR Ser687 and FKBP12. (10388749)
1999
41
Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples. (9520460)
1998
42
Bilateral iridocyclitis with retinal capillaritis in juveniles. (9186433)
1997
43
Polysialylation of NCAM by a single enzyme. (8805371)
1996
44
Effects of bio-normalizer (a food supplementation) on free radical production by human blood neutrophils, erythrocytes, and rat peritoneal macrophages. (8748224)
1995
45
Nerve growth factor-activated protein kinase N. Characterization and rapid near homogeneity purification by nucleotide affinity-exchange chromatography. (1400478)
1992
46
Benign cystic teratoma manifested as an umbilical hernia. (2000537)
1991
47
What is molluscum contagiosum? (2602309)
1989
48
Net lipid transfer between lipoproteins in fish-eye disease plasma supplemented with normal high density lipoproteins. (3600207)
1987
49
Utilization of epidermal phospholipase A2 inhibition to monitor topical steroid action. (6743552)
1984
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