MNLIX
MCID: MNL001
MIFTS: 45

Monilethrix (MNLIX)

Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Monilethrix

MalaCards integrated aliases for Monilethrix:

Name: Monilethrix 58 12 77 54 26 60 76 38 13 56 45 15
Beaded Hair 26 30 6 41
Mnlix 58 76
Moniliform Hair Syndrome 60
Nodose Hair 54

Characteristics:

Orphanet epidemiological data:

60
monilethrix
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable severity
genetic heterogeneity
hair regrowth may occur later in life


HPO:

33
monilethrix:
Onset and clinical course variable expressivity infantile onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050472
OMIM 58 158000
KEGG 38 H00670
MeSH 45 D056734
NCIt 51 C84894
SNOMED-CT 69 69488000
ICD10 34 Q84.1
MESH via Orphanet 46 D056734
ICD10 via Orphanet 35 Q84.1
UMLS via Orphanet 75 C0546966
Orphanet 60 ORPHA573
MedGen 43 C0546966
UMLS 74 C0546966

Summaries for Monilethrix

OMIM : 58 Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by Zlotogorski et al., 2006). An autosomal recessive form of monilethrix-like congenital hypotrichosis (see 607903) is caused by mutation in the DSG4 gene (607892). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region (Zlotogorski et al., 2006). The term monilethrix derives from the Latin word for necklace and the Greek for hair (Schweizer, 2006). (158000)

MalaCards based summary : Monilethrix, also known as beaded hair, is related to hypotrichosis 6 and hypotrichosis 8. An important gene associated with Monilethrix is KRT86 (Keratin 86), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include cortex, skin and eye, and related phenotypes are abnormality of the nail and hypotrichosis

Disease Ontology : 12 An autosomal dominant disease that is characterized by short, easily broken hair that results in alopecia and has material basis in mutations in genes for type II hair cortex keratins.

Genetics Home Reference : 26 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 : 54 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in... more...

Related Diseases for Monilethrix

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 6 32.9 DSG4 LIPH LPAR6
2 hypotrichosis 8 31.3 DSG4 LIPH LPAR6
3 hypotrichosis 7 30.0 DSG4 LIPH LPAR6
4 hypotrichosis 29.8 DSG4 KRT86 LIPH LPAR6
5 hair disease 29.1 DSG4 KRT81 KRT86 LIPH LPAR6
6 cicatricial ectropion 10.1 DSG4 TGM1
7 cataract 10.1
8 keratosis 10.1
9 palmoplantar keratoderma, epidermolytic 10.0 KRT16 KRT86
10 glossitis 10.0 KRT17 KRT6A
11 pilomatrixoma 10.0 KRT81 TCHH
12 holt-oram syndrome 10.0
13 nail disorder, nonsyndromic congenital, 2 10.0
14 ringed hair 10.0
15 argininosuccinic aciduria 10.0
16 trichothiodystrophy 1, photosensitive 10.0
17 trichotillomania 10.0
18 erythrokeratodermia variabilis et progressiva 5 10.0
19 alopecia 10.0
20 diabetes mellitus 10.0
21 iron metabolism disease 10.0
22 pili torti 10.0
23 fissured tongue 9.9 KRT16 KRT6A
24 palmoplantar keratoderma, bothnian type 9.9 KRT16 KRT17
25 tinea corporis 9.9 KRT16 KRT17
26 woolly hair syndrome 9.9 LIPH LPAR6
27 steatocystoma multiplex 9.9 KRT16 KRT17
28 bowen's disease 9.9 KRT16 KRT17
29 white sponge nevus 1 9.8 KRT16 KRT6A KRT86
30 keratoacanthoma 9.8 KRT16 KRT17
31 hypotrichosis simplex 9.7 DSG4 LIPH LPAR6
32 epidermoid cysts 9.7 KRT17 KRT6A TCHH
33 median rhomboid glossitis 9.7 KRT16 KRT17 KRT6A
34 pachyonychia congenita 1 9.6 KRT16 KRT17 KRT6A
35 primary cutaneous amyloidosis 9.6 KRT16 KRT17
36 epidermolytic hyperkeratosis 9.5 KRT16 KRT17 KRT6A TCHH
37 skin disease 9.2 DSG4 KRT16 KRT17 KRT6A TGM1

Graphical network of the top 20 diseases related to Monilethrix:



Diseases related to Monilethrix

Symptoms & Phenotypes for Monilethrix

Human phenotypes related to Monilethrix:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001597
2 hypotrichosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001006
3 fine hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002213
4 slow-growing hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002217
5 follicular hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0007502
6 brittle hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002299
7 patchy alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002232
8 abnormal eyelash morphology 33 hallmark (90%) HP:0000499
9 abnormal eyebrow morphology 33 hallmark (90%) HP:0000534
10 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
11 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
12 abnormality of the dentition 60 33 occasional (7.5%) Occasional (29-5%) HP:0000164
13 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
14 schizophrenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100753
15 nail dystrophy 33 HP:0008404
16 alopecia 33 HP:0001596
17 abnormality of the eyelashes 60 Very frequent (99-80%)
18 abnormality of the eyebrow 60 Very frequent (99-80%)
19 nail dysplasia 33 HP:0002164
20 perifollicular hyperkeratosis 33 HP:0007468
21 keratosis pilaris 33 HP:0032152

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Hair:
hypotrichosis
brittle hair
short hair
beaded hair on microscopy

Skin Nails Hair Skin:
keratosis pilaris
follicular keratosis

Skin Nails Hair Nails:
onychodystrophy

Clinical features from OMIM:

158000

Drugs & Therapeutics for Monilethrix

Search Clinical Trials , NIH Clinical Center for Monilethrix

Cochrane evidence based reviews: monilethrix

Genetic Tests for Monilethrix

Genetic tests related to Monilethrix:

# Genetic test Affiliating Genes
1 Beaded Hair 30 KRT81 KRT83 KRT86

Anatomical Context for Monilethrix

MalaCards organs/tissues related to Monilethrix:

42
Cortex, Skin, Eye, Tongue

Publications for Monilethrix

Articles related to Monilethrix:

(show top 50) (show all 125)
# Title Authors Year
1
Co-occurrence of Monilethrix and Type 1 Diabetes Mellitus. ( 30050820 )
2018
2
Monilethrix: A case report imaged by trichoscopy, reflectance confocal microscopy and histopathology. ( 29400908 )
2018
3
Identification of a novel missense KRT86 mutation in a Chinese family with monilethrix. ( 29701253 )
2018
4
Monilethrix. ( 30061326 )
2018
5
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. ( 27965375 )
2017
6
Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene. ( 28299823 )
2017
7
Discreet Monilethrix: De novo Mutation on the Example of Polish Families. ( 28839397 )
2017
8
Image Gallery: Unusual images of monilethrix: the eyebrows and the biopsy. ( 29052899 )
2017
9
Value of dermoscopy for the diagnosis of monilethrix. ( 29469711 )
2017
10
Dermoscopy: A rapid bedside tool to assess monilethrix. ( 26728817 )
2016
11
Treatment of monilethrix with oral minoxidil. ( 27284572 )
2016
12
Monilethrix with holt-oram syndrome: case report of a rare association. ( 25878448 )
2015
13
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. ( 26173648 )
2015
14
Novel KRT83 and KRT86 mutations associated with monilethrix. ( 25557232 )
2015
15
An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response. ( 25615553 )
2015
16
Monilethrix: a typical case report with microscopic and dermatoscopic findings. ( 25672313 )
2015
17
A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism. ( 25809918 )
2015
18
Monilethrix, a rare inherited hair shaft disorder in siblings. ( 25165660 )
2014
19
Monilethrix: a rare hereditary condition. ( 23723505 )
2013
20
Pitfalls and pearls in the diagnosis of monilethrix. ( 23834295 )
2013
21
Monilethrix with variable expressivity. ( 23960403 )
2013
22
Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix. ( 23981620 )
2013
23
Monilethrix. ( 24778539 )
2013
24
Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. ( 22568869 )
2012
25
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene. ( 22628999 )
2012
26
A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. ( 22670615 )
2012
27
Monilethrix. ( 22884362 )
2012
28
Masquerading of trichotillomania in a family with monilethrix. ( 21224181 )
2011
29
A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. ( 21495994 )
2011
30
Monilethrix treated with minoxidil. ( 21496408 )
2011
31
A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. ( 23554671 )
2011
32
Monilethrix: one step more on the ladder of cytogenetics. ( 21188018 )
2010
33
Monilethrix in pattern distribution in siblings: diagnosis by trichoscopy. ( 21188029 )
2010
34
Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. ( 19400537 )
2009
35
Mutation E402K of the hHb6 in a Chinese Han family with monilethrix. ( 19505862 )
2009
36
Rapid diagnosis of monilethrix using dermoscopy. ( 18616771 )
2008
37
Monilethrix in three generations. ( 19882001 )
2008
38
[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. ( 18393232 )
2008
39
Dermoscopy as a tool for rapid diagnosis of monilethrix. ( 17373184 )
2007
40
More than one gene involved in monilethrix: intracellular but also extracellular players. ( 16702971 )
2006
41
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. ( 16575393 )
2006
42
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. ( 16543896 )
2006
43
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. ( 16439973 )
2006
44
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. ( 15744029 )
2005
45
Monilethrix: improvement with acitretin. ( 16343029 )
2005
46
A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin. ( 15050877 )
2004
47
Severe monilethrix associated with intractable scalp pruritus, posterior subcapsular cataract, brachiocephaly, and distinct facial features: a new variant of monilethrix syndrome? ( 15283798 )
2004
48
Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. ( 12653715 )
2003
49
Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. ( 12771477 )
2003
50
What is your diagnosis? Monilethrix. ( 14700211 )
2003

Variations for Monilethrix

UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:

76 (show all 13)
# Symbol AA change Variation ID SNP ID
1 KRT81 p.Glu402Lys VAR_018116 rs56821304
2 KRT81 p.Glu413Lys VAR_018117 rs57419521
3 KRT81 p.Arg408Cys VAR_073048 rs771393943
4 KRT83 p.Glu407Lys VAR_023052 rs57802288
5 KRT83 p.Glu418Lys VAR_073049 rs143808753
6 KRT86 p.Asn114Asp VAR_018125 rs61091894
7 KRT86 p.Glu402Gln VAR_018126 rs60687604
8 KRT86 p.Glu402Lys VAR_018127 rs60687604
9 KRT86 p.Glu413Lys VAR_018128 rs121909129
10 KRT86 p.Glu413Asp VAR_018129 rs121909130
11 KRT86 p.Asn114His VAR_023053 rs61091894
12 KRT86 p.Leu409Pro VAR_073050
13 KRT86 p.Leu410Pro VAR_073051

ClinVar genetic disease variations for Monilethrix:

6 (show top 50) (show all 146)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT83 NM_002282.3(KRT83): c.1219G> A (p.Glu407Lys) single nucleotide variant Likely pathogenic rs57802288 GRCh37 Chromosome 12, 52709720: 52709720
2 KRT83 NM_002282.3(KRT83): c.1219G> A (p.Glu407Lys) single nucleotide variant Likely pathogenic rs57802288 GRCh38 Chromosome 12, 52315936: 52315936
3 KRT81 NM_002281.3(KRT81): c.1237G> A (p.Glu413Lys) single nucleotide variant Pathogenic rs57419521 GRCh37 Chromosome 12, 52680896: 52680896
4 KRT81 NM_002281.3(KRT81): c.1237G> A (p.Glu413Lys) single nucleotide variant Pathogenic rs57419521 GRCh38 Chromosome 12, 52287112: 52287112
5 KRT81 NM_002281.3(KRT81): c.1204G> A (p.Glu402Lys) single nucleotide variant Pathogenic rs56821304 GRCh37 Chromosome 12, 52680929: 52680929
6 KRT81 NM_002281.3(KRT81): c.1204G> A (p.Glu402Lys) single nucleotide variant Pathogenic rs56821304 GRCh38 Chromosome 12, 52287145: 52287145
7 KRT86 NM_001320198.1(KRT86): c.1237G> A (p.Glu413Lys) single nucleotide variant Pathogenic rs121909129 GRCh37 Chromosome 12, 52700054: 52700054
8 KRT86 NM_001320198.1(KRT86): c.1237G> A (p.Glu413Lys) single nucleotide variant Pathogenic rs121909129 GRCh38 Chromosome 12, 52306270: 52306270
9 KRT86 NM_001320198.1(KRT86): c.1239G> T (p.Glu413Asp) single nucleotide variant Pathogenic rs121909130 GRCh37 Chromosome 12, 52700056: 52700056
10 KRT86 NM_001320198.1(KRT86): c.1239G> T (p.Glu413Asp) single nucleotide variant Pathogenic rs121909130 GRCh38 Chromosome 12, 52306272: 52306272
11 KRT86 NM_001320198.1(KRT86): c.1204G> A (p.Glu402Lys) single nucleotide variant Pathogenic rs60687604 GRCh37 Chromosome 12, 52700021: 52700021
12 KRT86 NM_001320198.1(KRT86): c.1204G> A (p.Glu402Lys) single nucleotide variant Pathogenic rs60687604 GRCh38 Chromosome 12, 52306237: 52306237
13 KRT86 NM_001320198.1(KRT86): c.340A> G (p.Asn114Asp) single nucleotide variant Pathogenic rs61091894 GRCh37 Chromosome 12, 52696040: 52696040
14 KRT86 NM_001320198.1(KRT86): c.340A> G (p.Asn114Asp) single nucleotide variant Pathogenic rs61091894 GRCh38 Chromosome 12, 52302256: 52302256
15 KRT86 NM_001320198.1(KRT86): c.1204G> C (p.Glu402Gln) single nucleotide variant Pathogenic rs60687604 GRCh37 Chromosome 12, 52700021: 52700021
16 KRT86 NM_001320198.1(KRT86): c.1204G> C (p.Glu402Gln) single nucleotide variant Pathogenic rs60687604 GRCh38 Chromosome 12, 52306237: 52306237
17 KRT86 NM_001320198.1(KRT86): c.353C> A (p.Ala118Glu) single nucleotide variant Pathogenic rs60612575 GRCh37 Chromosome 12, 52696053: 52696053
18 KRT86 NM_001320198.1(KRT86): c.353C> A (p.Ala118Glu) single nucleotide variant Pathogenic rs60612575 GRCh38 Chromosome 12, 52302269: 52302269
19 KRT83 NM_002282.3(KRT83): c.558C> T (p.Asn186=) single nucleotide variant Benign rs3741715 GRCh37 Chromosome 12, 52712975: 52712975
20 KRT83 NM_002282.3(KRT83): c.558C> T (p.Asn186=) single nucleotide variant Benign rs3741715 GRCh38 Chromosome 12, 52319191: 52319191
21 KRT83 NM_002282.3(KRT83): c.*225C> T single nucleotide variant Uncertain significance rs886049620 GRCh38 Chromosome 12, 52314406: 52314406
22 KRT83 NM_002282.3(KRT83): c.*225C> T single nucleotide variant Uncertain significance rs886049620 GRCh37 Chromosome 12, 52708190: 52708190
23 KRT83 NM_002282.3(KRT83): c.*107T> G single nucleotide variant Uncertain significance rs771547026 GRCh37 Chromosome 12, 52708308: 52708308
24 KRT83 NM_002282.3(KRT83): c.*107T> G single nucleotide variant Uncertain significance rs771547026 GRCh38 Chromosome 12, 52314524: 52314524
25 KRT83 NM_002282.3(KRT83): c.*23G> T single nucleotide variant Likely benign rs535186700 GRCh37 Chromosome 12, 52708392: 52708392
26 KRT83 NM_002282.3(KRT83): c.*23G> T single nucleotide variant Likely benign rs535186700 GRCh38 Chromosome 12, 52314608: 52314608
27 KRT83 NM_002282.3(KRT83): c.1059T> C (p.Ala353=) single nucleotide variant Benign rs2852468 GRCh37 Chromosome 12, 52709880: 52709880
28 KRT83 NM_002282.3(KRT83): c.1059T> C (p.Ala353=) single nucleotide variant Benign rs2852468 GRCh38 Chromosome 12, 52316096: 52316096
29 KRT83 NM_002282.3(KRT83): c.1042-4C> A single nucleotide variant Likely benign rs200402665 GRCh37 Chromosome 12, 52709901: 52709901
30 KRT83 NM_002282.3(KRT83): c.1042-4C> A single nucleotide variant Likely benign rs200402665 GRCh38 Chromosome 12, 52316117: 52316117
31 KRT83 NM_002282.3(KRT83): c.1017C> T (p.Ala339=) single nucleotide variant Likely benign rs143467763 GRCh37 Chromosome 12, 52710276: 52710276
32 KRT83 NM_002282.3(KRT83): c.1017C> T (p.Ala339=) single nucleotide variant Likely benign rs143467763 GRCh38 Chromosome 12, 52316492: 52316492
33 KRT83 NM_002282.3(KRT83): c.891G> C (p.Glu297Asp) single nucleotide variant Uncertain significance rs886049621 GRCh38 Chromosome 12, 52316883: 52316883
34 KRT83 NM_002282.3(KRT83): c.891G> C (p.Glu297Asp) single nucleotide variant Uncertain significance rs886049621 GRCh37 Chromosome 12, 52710667: 52710667
35 KRT83 NM_002282.3(KRT83): c.843C> T (p.Ala281=) single nucleotide variant Benign rs2857669 GRCh38 Chromosome 12, 52316931: 52316931
36 KRT83 NM_002282.3(KRT83): c.843C> T (p.Ala281=) single nucleotide variant Benign rs2857669 GRCh37 Chromosome 12, 52710715: 52710715
37 KRT83 NM_002282.3(KRT83): c.815G> A (p.Arg272Gln) single nucleotide variant Uncertain significance rs369510264 GRCh38 Chromosome 12, 52316959: 52316959
38 KRT83 NM_002282.3(KRT83): c.815G> A (p.Arg272Gln) single nucleotide variant Uncertain significance rs369510264 GRCh37 Chromosome 12, 52710743: 52710743
39 KRT83 NM_002282.3(KRT83): c.480T> C (p.Phe160=) single nucleotide variant Likely benign rs11834565 GRCh37 Chromosome 12, 52713053: 52713053
40 KRT83 NM_002282.3(KRT83): c.480T> C (p.Phe160=) single nucleotide variant Likely benign rs11834565 GRCh38 Chromosome 12, 52319269: 52319269
41 KRT83 NM_002282.3(KRT83): c.452G> A (p.Cys151Tyr) single nucleotide variant Uncertain significance rs201680950 GRCh37 Chromosome 12, 52713081: 52713081
42 KRT83 NM_002282.3(KRT83): c.452G> A (p.Cys151Tyr) single nucleotide variant Uncertain significance rs201680950 GRCh38 Chromosome 12, 52319297: 52319297
43 KRT83 NM_002282.3(KRT83): c.445C> T (p.Arg149Cys) single nucleotide variant Benign rs2857663 GRCh37 Chromosome 12, 52713088: 52713088
44 KRT83 NM_002282.3(KRT83): c.445C> T (p.Arg149Cys) single nucleotide variant Benign rs2857663 GRCh38 Chromosome 12, 52319304: 52319304
45 KRT83 NM_002282.3(KRT83): c.183C> T (p.Ala61=) single nucleotide variant Uncertain significance rs755364196 GRCh37 Chromosome 12, 52714937: 52714937
46 KRT83 NM_002282.3(KRT83): c.183C> T (p.Ala61=) single nucleotide variant Uncertain significance rs755364196 GRCh38 Chromosome 12, 52321153: 52321153
47 KRT83 NM_002282.3(KRT83): c.147C> A (p.Gly49=) single nucleotide variant Likely benign rs542978203 GRCh37 Chromosome 12, 52714973: 52714973
48 KRT83 NM_002282.3(KRT83): c.147C> A (p.Gly49=) single nucleotide variant Likely benign rs542978203 GRCh38 Chromosome 12, 52321189: 52321189
49 KRT83 NM_002282.3(KRT83): c.*44C> T single nucleotide variant Likely benign rs186532103 GRCh37 Chromosome 12, 52708371: 52708371
50 KRT83 NM_002282.3(KRT83): c.*44C> T single nucleotide variant Likely benign rs186532103 GRCh38 Chromosome 12, 52314587: 52314587

Expression for Monilethrix

Search GEO for disease gene expression data for Monilethrix.

Pathways for Monilethrix

Pathways related to Monilethrix according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 DSG4 KRT16 KRT17 KRT6A KRT81 KRT83
2
Show member pathways
11.73 DSG4 KRT16 KRT17 KRT6A KRT81 KRT83
3
Show member pathways
11.37 KRT16 KRT17 KRT6A

GO Terms for Monilethrix

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.86 KRT16 KRT17 KRT6A KRT81 KRT83 KRT86
2 cornified envelope GO:0001533 9.33 DSG4 TCHH TGM1
3 keratin filament GO:0045095 9.26 KRT6A KRT81 KRT83 KRT86
4 intermediate filament GO:0005882 9.1 KRT16 KRT17 KRT6A KRT81 KRT83 KRT86

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.61 KRT16 KRT17 KRT6A
2 cornification GO:0070268 9.61 DSG4 KRT16 KRT17 KRT6A KRT81 KRT83
3 epidermis development GO:0008544 9.43 KRT16 KRT17 KRT83
4 morphogenesis of an epithelium GO:0002009 9.4 KRT16 KRT6A
5 hair cycle GO:0042633 9.37 KRT16 KRT83
6 keratinocyte differentiation GO:0030216 9.33 DSG4 KRT16 TGM1
7 intermediate filament organization GO:0045109 9.32 KRT17 TCHH
8 keratinization GO:0031424 9.28 DSG4 KRT16 KRT17 KRT6A KRT81 KRT83

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.13 KRT16 KRT17 KRT6A
2 structural molecule activity GO:0005198 8.8 KRT16 KRT17 KRT6A

Sources for Monilethrix

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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