MCID: MNL001
MIFTS: 46

Monilethrix

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Monilethrix

MalaCards integrated aliases for Monilethrix:

Name: Monilethrix 57 12 76 53 25 59 75 37 13 55 44 15
Beaded Hair 25 29 6 40
Mnlix 57 75
Moniliform Hair Syndrome 59
Nodose Hair 53

Characteristics:

Orphanet epidemiological data:

59
monilethrix
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
monilethrix:
Onset and clinical course variable expressivity infantile onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 158000
Disease Ontology 12 DOID:0050472
ICD10 33 Q84.1
MeSH 44 D056734
NCIt 50 C84894
Orphanet 59 ORPHA573
UMLS via Orphanet 74 C0546966
MESH via Orphanet 45 D056734
ICD10 via Orphanet 34 Q84.1
MedGen 42 C0546966
KEGG 37 H00670
UMLS 73 C0546966

Summaries for Monilethrix

OMIM : 57 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 skin and cortex, and related phenotypes are intellectual disability and cataract

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

Genetics Home Reference : 25 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 : 76 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 41)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 6 32.7 DSG4 KRT74 LPAR6
2 hypotrichosis 8 31.1 DSG4 KRT74 LPAR6
3 hypotrichosis 7 29.8 DSG4 KRT74 LPAR6
4 hypotrichosis 28.9 DSG4 KRT74 KRT83 KRT86 LPAR6
5 hair disease 28.6 DSG4 KRT74 KRT81 KRT86 LPAR6
6 cicatricial ectropion 10.5 DSG4 TGM1
7 hypotrichosis simplex 10.4 DSG4 LPAR6
8 first-degree atrioventricular block 10.2 DSG4 KRT74
9 pilomatrixoma 10.2 KRT81 TCHH
10 hair follicle neoplasm 10.2 KRT17 TCHH
11 woolly hair syndrome 10.1 KRT74 LPAR6
12 pachyonychia congenita 2 10.1 KRT16 KRT17
13 fissured tongue 10.1 KRT16 KRT6A
14 tinea corporis 10.1 KRT16 KRT17
15 steatocystoma multiplex 10.0 KRT16 KRT17
16 bowen's disease 10.0 KRT16 KRT17
17 cataract 9.9
18 keratosis 9.9
19 keratoacanthoma 9.9 KRT16 KRT17
20 holt-oram syndrome 9.8
21 nail disorder, nonsyndromic congenital, 2 9.8
22 ringed hair 9.8
23 argininosuccinic aciduria 9.8
24 trichotillomania 9.8
25 alopecia 9.8
26 iron metabolism disease 9.8
27 pili torti 9.8
28 primary cutaneous amyloidosis 9.7 KRT16 KRT17
29 epidermoid cysts 9.7 KRT17 KRT6A TCHH
30 median rhomboid glossitis 9.6 KRT16 KRT17 KRT6A
31 glossitis 9.6 KRT16 KRT17 KRT6A
32 basal cell carcinoma 9.5 KRT16 KRT17 TCHH
33 palmoplantar keratoderma, epidermolytic 9.2 KRT16 KRT17 KRT9
34 palmoplantar keratoderma, nonepidermolytic 9.2 KRT16 KRT17 KRT9
35 palmoplantar keratosis 9.1 KRT16 KRT9
36 type i 9.0 KRT16 KRT17 KRT9
37 ichthyosis bullosa of siemens 8.9 KRT16 KRT6A KRT86 KRT9
38 epidermolytic hyperkeratosis 8.8 KRT16 KRT17 KRT9 TCHH
39 white sponge nevus 1 8.2 KRT16 KRT6A KRT74 KRT86 KRT9
40 pachyonychia congenita 1 7.9 KRT16 KRT17 KRT6A KRT74 KRT9
41 skin disease 7.8 DSG4 KRT16 KRT17 KRT6A KRT9 TGM1

Graphical network of the top 20 diseases related to Monilethrix:



Diseases related to Monilethrix

Symptoms & Phenotypes for Monilethrix

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Monilethrix:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
3 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
4 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
5 abnormality of the nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001597
6 abnormality of the eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000499
7 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
8 schizophrenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100753
9 fine hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002213
10 slow-growing hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002217
11 brittle hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002299
12 follicular hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007502
13 patchy alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002232
14 abnormality of metabolism/homeostasis 32 HP:0001939
15 nail dystrophy 32 HP:0008404
16 alopecia 32 HP:0001596
17 abnormality of the eyebrow 59 Very frequent (99-80%)
18 nail dysplasia 32 HP:0002164
19 perifollicular hyperkeratosis 32 HP:0007468
20 abnormal eyebrow morphology 32 hallmark (90%) HP:0000534

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 29 KRT81 KRT83 KRT86

Anatomical Context for Monilethrix

MalaCards organs/tissues related to Monilethrix:

41
Skin, Cortex

Publications for Monilethrix

Articles related to Monilethrix:

(show top 50) (show all 118)
# Title Authors Year
1
Identification of a novel missense KRT86 mutation in a Chinese family with monilethrix. ( 29701253 )
2018
2
Monilethrix: A case report imaged by trichoscopy, reflectance confocal microscopy and histopathology. ( 29400908 )
2018
3
Value of dermoscopy for the diagnosis of monilethrix. ( 29469711 )
2017
4
Discreet Monilethrix: De novo Mutation on the Example of Polish Families. ( 28839397 )
2017
5
Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene. ( 28299823 )
2017
6
Image Gallery: Unusual images of monilethrix: the eyebrows and the biopsy. ( 29052899 )
2017
7
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. ( 27965375 )
2016
8
Dermoscopy: A rapid bedside tool to assess monilethrix. ( 26728817 )
2016
9
Treatment of monilethrix with oral minoxidil. ( 27284572 )
2016
10
Novel KRT83 and KRT86 mutations associated with monilethrix. ( 25557232 )
2015
11
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. ( 26173648 )
2015
12
Monilethrix: a typical case report with microscopic and dermatoscopic findings. ( 25672313 )
2015
13
A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism. ( 25809918 )
2015
14
An Autosomal Recessive Mutation of DSG4 Causes Monilethrix through the ER Stress Response. ( 25615553 )
2015
15
Monilethrix with holt-oram syndrome: case report of a rare association. ( 25878448 )
2015
16
Monilethrix, a rare inherited hair shaft disorder in siblings. ( 25165660 )
2014
17
Monilethrix. ( 24778539 )
2013
18
Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix. ( 23981620 )
2013
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
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene. ( 22628999 )
2012
23
Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. ( 22568869 )
2012
24
A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. ( 22670615 )
2012
25
Monilethrix. ( 22884362 )
2012
26
A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. ( 23554671 )
2011
27
A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. ( 21495994 )
2011
28
Monilethrix treated with minoxidil. ( 21496408 )
2011
29
Masquerading of trichotillomania in a family with monilethrix. ( 21224181 )
2011
30
Monilethrix: one step more on the ladder of cytogenetics. ( 21188018 )
2010
31
Monilethrix in pattern distribution in siblings: diagnosis by trichoscopy. ( 21188029 )
2010
32
Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. ( 19400537 )
2009
33
Mutation E402K of the hHb6 in a Chinese Han family with monilethrix. ( 19505862 )
2009
34
[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. ( 18393232 )
2008
35
Rapid diagnosis of monilethrix using dermoscopy. ( 18616771 )
2008
36
Monilethrix in three generations. ( 19882001 )
2008
37
Dermoscopy as a tool for rapid diagnosis of monilethrix. ( 17373184 )
2007
38
More than one gene involved in monilethrix: intracellular but also extracellular players. ( 16702971 )
2006
39
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. ( 16543896 )
2006
40
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. ( 16575393 )
2006
41
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. ( 16439973 )
2006
42
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. ( 15744029 )
2005
43
Monilethrix: improvement with acitretin. ( 16343029 )
2005
44
Severe monilethrix associated with intractable scalp pruritus, posterior subcapsular cataract, brachiocephaly, and distinct facial features: a new variant of monilethrix syndrome? ( 15283798 )
2004
45
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
46
Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. ( 12771477 )
2003
47
What is your diagnosis? Monilethrix. ( 14700211 )
2003
48
De novo mutations in monilethrix. ( 14714571 )
2003
49
Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. ( 12653715 )
2003
50
Medical Pearl: an easy way to diagnose severe neonatal monilethrix. ( 11756955 )
2002

Variations for Monilethrix

UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:

75 (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
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 142)
# 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.*225C> T single nucleotide variant Uncertain significance rs886049620 GRCh38 Chromosome 12, 52314406: 52314406
20 KRT83 NM_002282.3(KRT83): c.*225C> T single nucleotide variant Uncertain significance rs886049620 GRCh37 Chromosome 12, 52708190: 52708190
21 KRT83 NM_002282.3(KRT83): c.*107T> G single nucleotide variant Uncertain significance rs771547026 GRCh37 Chromosome 12, 52708308: 52708308
22 KRT83 NM_002282.3(KRT83): c.*107T> G single nucleotide variant Uncertain significance rs771547026 GRCh38 Chromosome 12, 52314524: 52314524
23 KRT83 NM_002282.3(KRT83): c.*23G> T single nucleotide variant Likely benign rs535186700 GRCh37 Chromosome 12, 52708392: 52708392
24 KRT83 NM_002282.3(KRT83): c.*23G> T single nucleotide variant Likely benign rs535186700 GRCh38 Chromosome 12, 52314608: 52314608
25 KRT83 NM_002282.3(KRT83): c.1059T> C (p.Ala353=) single nucleotide variant Benign rs2852468 GRCh37 Chromosome 12, 52709880: 52709880
26 KRT83 NM_002282.3(KRT83): c.1059T> C (p.Ala353=) single nucleotide variant Benign rs2852468 GRCh38 Chromosome 12, 52316096: 52316096
27 KRT83 NM_002282.3(KRT83): c.1042-4C> A single nucleotide variant Likely benign rs200402665 GRCh37 Chromosome 12, 52709901: 52709901
28 KRT83 NM_002282.3(KRT83): c.1042-4C> A single nucleotide variant Likely benign rs200402665 GRCh38 Chromosome 12, 52316117: 52316117
29 KRT83 NM_002282.3(KRT83): c.1017C> T (p.Ala339=) single nucleotide variant Likely benign rs143467763 GRCh37 Chromosome 12, 52710276: 52710276
30 KRT83 NM_002282.3(KRT83): c.1017C> T (p.Ala339=) single nucleotide variant Likely benign rs143467763 GRCh38 Chromosome 12, 52316492: 52316492
31 KRT83 NM_002282.3(KRT83): c.891G> C (p.Glu297Asp) single nucleotide variant Uncertain significance rs886049621 GRCh38 Chromosome 12, 52316883: 52316883
32 KRT83 NM_002282.3(KRT83): c.891G> C (p.Glu297Asp) single nucleotide variant Uncertain significance rs886049621 GRCh37 Chromosome 12, 52710667: 52710667
33 KRT83 NM_002282.3(KRT83): c.843C> T (p.Ala281=) single nucleotide variant Benign rs2857669 GRCh38 Chromosome 12, 52316931: 52316931
34 KRT83 NM_002282.3(KRT83): c.843C> T (p.Ala281=) single nucleotide variant Benign rs2857669 GRCh37 Chromosome 12, 52710715: 52710715
35 KRT83 NM_002282.3(KRT83): c.815G> A (p.Arg272Gln) single nucleotide variant Uncertain significance rs369510264 GRCh38 Chromosome 12, 52316959: 52316959
36 KRT83 NM_002282.3(KRT83): c.815G> A (p.Arg272Gln) single nucleotide variant Uncertain significance rs369510264 GRCh37 Chromosome 12, 52710743: 52710743
37 KRT83 NM_002282.3(KRT83): c.480T> C (p.Phe160=) single nucleotide variant Likely benign rs11834565 GRCh37 Chromosome 12, 52713053: 52713053
38 KRT83 NM_002282.3(KRT83): c.480T> C (p.Phe160=) single nucleotide variant Likely benign rs11834565 GRCh38 Chromosome 12, 52319269: 52319269
39 KRT83 NM_002282.3(KRT83): c.452G> A (p.Cys151Tyr) single nucleotide variant Uncertain significance rs201680950 GRCh37 Chromosome 12, 52713081: 52713081
40 KRT83 NM_002282.3(KRT83): c.452G> A (p.Cys151Tyr) single nucleotide variant Uncertain significance rs201680950 GRCh38 Chromosome 12, 52319297: 52319297
41 KRT83 NM_002282.3(KRT83): c.445C> T (p.Arg149Cys) single nucleotide variant Benign rs2857663 GRCh37 Chromosome 12, 52713088: 52713088
42 KRT83 NM_002282.3(KRT83): c.445C> T (p.Arg149Cys) single nucleotide variant Benign rs2857663 GRCh38 Chromosome 12, 52319304: 52319304
43 KRT83 NM_002282.3(KRT83): c.183C> T (p.Ala61=) single nucleotide variant Uncertain significance rs755364196 GRCh37 Chromosome 12, 52714937: 52714937
44 KRT83 NM_002282.3(KRT83): c.183C> T (p.Ala61=) single nucleotide variant Uncertain significance rs755364196 GRCh38 Chromosome 12, 52321153: 52321153
45 KRT83 NM_002282.3(KRT83): c.147C> A (p.Gly49=) single nucleotide variant Likely benign rs542978203 GRCh37 Chromosome 12, 52714973: 52714973
46 KRT83 NM_002282.3(KRT83): c.147C> A (p.Gly49=) single nucleotide variant Likely benign rs542978203 GRCh38 Chromosome 12, 52321189: 52321189
47 KRT83 NM_002282.3(KRT83): c.1332T> C (p.Asp444=) single nucleotide variant Benign rs2857670 GRCh38 Chromosome 12, 52314781: 52314781
48 KRT83 NM_002282.3(KRT83): c.*44C> T single nucleotide variant Likely benign rs186532103 GRCh37 Chromosome 12, 52708371: 52708371
49 KRT83 NM_002282.3(KRT83): c.*44C> T single nucleotide variant Likely benign rs186532103 GRCh38 Chromosome 12, 52314587: 52314587
50 KRT83 NM_002282.3(KRT83): c.1412G> A (p.Gly471Asp) single nucleotide variant Benign rs147359482 GRCh37 Chromosome 12, 52708485: 52708485

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
12.91 DSG4 KRT16 KRT17 KRT6A KRT74 KRT81
2
Show member pathways
11.82 DSG4 KRT16 KRT17 KRT6A KRT74 KRT81
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 9.96 KRT16 KRT17 KRT6A KRT74 KRT81 KRT83
2 extracellular exosome GO:0070062 9.87 KRT16 KRT17 KRT6A KRT74 KRT86 KRT9
3 keratin filament GO:0045095 9.35 KRT6A KRT74 KRT81 KRT83 KRT86
4 cornified envelope GO:0001533 9.33 DSG4 TCHH TGM1
5 intermediate filament GO:0005882 9.23 KRT16 KRT17 KRT6A KRT74 KRT81 KRT83

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.7 DSG4 KRT16 KRT17 KRT6A KRT74 KRT81
2 epidermis development GO:0008544 9.56 KRT16 KRT17 KRT83 KRT9
3 keratinocyte differentiation GO:0030216 9.5 DSG4 KRT16 TGM1
4 morphogenesis of an epithelium GO:0002009 9.43 KRT16 KRT6A
5 intermediate filament organization GO:0045109 9.4 KRT17 KRT9
6 hair cycle GO:0042633 9.37 KRT16 KRT83
7 cornification GO:0070268 9.36 DSG4 KRT16 KRT17 KRT6A KRT74 KRT81
8 intermediate filament cytoskeleton organization GO:0045104 9.33 KRT16 KRT6A KRT74

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 9.26 KRT16 KRT17 KRT6A KRT9
2 structural molecule activity GO:0005198 9.17 KRT16 KRT17 KRT6A KRT74 KRT81 KRT83

Sources for Monilethrix

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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