MNLIX
MCID: MNL001
MIFTS: 47

Monilethrix (MNLIX)

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

Aliases & Classifications for Monilethrix

MalaCards integrated aliases for Monilethrix:

Name: Monilethrix 57 12 75 53 25 59 74 37 13 55 44 15
Beaded Hair 25 29 6 40
Mnlix 57 74
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:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050472
OMIM 57 158000
KEGG 37 H00670
MeSH 44 D056734
NCIt 50 C84894
SNOMED-CT 68 69488000
ICD10 33 Q84.1
MESH via Orphanet 45 D056734
ICD10 via Orphanet 34 Q84.1
UMLS via Orphanet 73 C0546966
Orphanet 59 ORPHA573
MedGen 42 C0546966
UMLS 72 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 cortex and skin, 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 : 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. Affected individuals usually have normal hair at birth, but the hair abnormalities develop within the first few months of life. In mild cases of monilethrix, only hair on the back of the head (occiput) or nape of the neck is affected. In more severe cases, hair over the whole scalp can be affected, as well as pubic hair, underarm hair, eyebrows, eyelashes, or hair on the arms and legs. Occasionally, the skin and nails are involved in monilethrix. Some affected individuals have a skin condition called keratosis pilaris, which causes small bumps on the skin, especially on the scalp, neck, and arms. Affected individuals may also have abnormal fingernails or toenails.

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.

KEGG : 37
Monilethrix is a disease of the hair cortex characterized by an unusually deformed hair shaft and alopecia. It has been named for the beaded appearance of affected hairs. Mutations in type II hair follicle-specific keratins lead to monilethrix.

UniProtKB/Swiss-Prot : 74 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 : 75 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 top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 6 32.8 LPAR6 LIPH DSG4
2 hypotrichosis 8 31.7 LPAR6 LIPH DSG4
3 palmoplantar keratoderma, epidermolytic 30.1 KRT86 KRT16
4 hypotrichosis simplex 29.8 LPAR6 LIPH DSG4
5 hypotrichosis 29.7 LPAR6 LIPH KRT86 DSG4
6 hair disease 28.9 LPAR6 LIPH KRT86 KRT81 DSG4
7 keratosis 10.7
8 alopecia 10.6
9 helix syndrome 10.5
10 diffuse alopecia areata 10.3
11 cataract 10.3
12 hypertelorism 10.2
13 cicatricial ectropion 10.2 TGM1 DSG4
14 erythrokeratoderma ''en cocardes'' 10.2
15 rare genetic skin disease 10.2
16 alopecia, androgenetic, 1 10.0
17 holt-oram syndrome 10.0
18 pseudomonilethrix 10.0
19 ringed hair 10.0
20 schizophrenia 10.0
21 argininosuccinic aciduria 10.0
22 menkes disease 10.0
23 ataxia and polyneuropathy, adult-onset 10.0
24 trichothiodystrophy 1, photosensitive 10.0
25 trichotillomania 10.0
26 erythrokeratodermia variabilis et progressiva 5 10.0
27 androgenic alopecia 10.0
28 corneal disease 10.0
29 autosomal dominant cerebellar ataxia 10.0
30 heart septal defect 10.0
31 atrial heart septal defect 10.0
32 iron metabolism disease 10.0
33 nail disease 10.0
34 pustulosis of palm and sole 10.0
35 psoriasis 10.0
36 diabetes mellitus 10.0
37 blepharitis 10.0
38 48,xyyy 10.0
39 pili torti 10.0
40 erythrokeratoderma 10.0
41 glossitis 10.0 KRT6A KRT17
42 pilomatrixoma 10.0 TCHH KRT81
43 fissured tongue 9.9 KRT6A KRT16
44 palmoplantar keratoderma, bothnian type 9.9 KRT17 KRT16
45 tinea corporis 9.8 KRT17 KRT16
46 woolly hair syndrome 9.8 LPAR6 LIPH
47 bowen's disease 9.8 KRT17 KRT16
48 steatocystoma multiplex 9.8 KRT17 KRT16
49 white sponge nevus 1 9.7 KRT86 KRT6A KRT16
50 keratoacanthoma 9.7 KRT17 KRT16

Graphical network of the top 20 diseases related to Monilethrix:



Diseases related to Monilethrix

Symptoms & Phenotypes for Monilethrix

Human phenotypes related to Monilethrix:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001597
2 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
3 fine hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002213
4 slow-growing hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002217
5 follicular hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007502
6 brittle hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002299
7 patchy alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002232
8 abnormal eyelash morphology 32 hallmark (90%) HP:0000499
9 abnormal eyebrow morphology 32 hallmark (90%) HP:0000534
10 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
11 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
12 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
13 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
14 schizophrenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100753
15 nail dystrophy 32 HP:0008404
16 alopecia 32 HP:0001596
17 abnormality of the eyelashes 59 Very frequent (99-80%)
18 abnormality of the eyebrow 59 Very frequent (99-80%)
19 nail dysplasia 32 HP:0002164
20 perifollicular hyperkeratosis 32 HP:0007468
21 keratosis pilaris 32 HP:0032152

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Hair:
hypotrichosis
brittle hair
short hair
beaded hair on microscopy

Skin Nails Hair Nails:
onychodystrophy

Skin Nails Hair Skin:
keratosis pilaris
follicular keratosis

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 29 KRT81 KRT83 KRT86

Anatomical Context for Monilethrix

MalaCards organs/tissues related to Monilethrix:

41
Cortex, Skin

Publications for Monilethrix

Articles related to Monilethrix:

(show top 50) (show all 206)
# Title Authors PMID Year
1
Novel KRT83 and KRT86 mutations associated with monilethrix. 38 8 71
25557232 2015
2
Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. 38 8 71
19400537 2009
3
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. 38 8 71
15744029 2005
4
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. 38 8 71
10878478 2000
5
A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1. 38 8 71
9665406 1998
6
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. 38 8 71
9241275 1997
7
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. 9 38 8
16575393 2006
8
A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin. 9 38 71
15050877 2004
9
Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. 9 38 71
10594761 1999
10
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. 9 38 71
10469314 1999
11
A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. 9 38 71
9804356 1998
12
More than one gene involved in monilethrix: intracellular but also extracellular players. 38 8
16702971 2006
13
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. 38 71
9402962 1997
14
Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity. 38 8
9349326 1997
15
Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13. 38 8
8618025 1996
16
A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13. 38 8
8634717 1995
17
Linkage data on monilethrix. 38 8
3356162 1988
18
Monilethrix: an ultrastructural study. 38 8
6520260 1984
19
The genetic analysis of monilethrix in a large inbred kindred. 38 8
7091190 1982
20
Monilethrix. 38 8
640105 1978
21
MONILETHRIX: ITS OCCURRENCE IN SEVEN GENERATIONS, WITH ONE CASE THAT RESPONDED TO ENDOCRINE THERAPY. 38 8
14065471 1963
22
[ON INFORMATION ON THE MONILETHRIX SYNDROME]. 38 8
14046099 1963
23
[On monilethrix]. 38 8
13991022 1962
24
An investigation of monilethrix. 38 8
13864139 1962
25
Monilethrix; report of three cases with family history. 38 8
13580285 1958
26
MONILETHRIX : A GROUP OF TWENTY-TWO CASES. 38 8
20777212 1932
27
Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle. 71
9457912 1998
28
Sequence data and chromosomal localization of human type I and type II hair keratin genes. 71
7556444 1995
29
Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. 9 38
19683850 2009
30
[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. 9 38
18393232 2008
31
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. 9 38
16439973 2006
32
De novo mutations in monilethrix. 9 38
14714571 2003
33
Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. 9 38
12653715 2003
34
Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. 9 38
12771477 2003
35
The molecular genetics of keratin disorders. 9 38
12688839 2003
36
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. 9 38
10504448 1999
37
Molecular analysis of an extended Palestinian family from Israel with monilethrix. 9 38
11336449 1999
38
Off-Label Use of Topical Minoxidil in Alopecia: A Review. 38
30604379 2019
39
Identification of a novel missense KRT86 mutation in a Chinese family with monilethrix. 38
29701253 2018
40
Monilethrix: A case report imaged by trichoscopy, reflectance confocal microscopy and histopathology. 38
29400908 2018
41
Trichoscopy in Hair Shaft Disorders. 38
30201151 2018
42
Clinical Significance of Trichoscopy in Common Causes of Hair Loss in Children: Analysis of 134 Cases. 38
30386074 2018
43
Monilethrix. 38
30061326 2018
44
Co-occurrence of Monilethrix and Type 1 Diabetes Mellitus. 38
30050820 2018
45
Image Gallery: Unusual images of monilethrix: the eyebrows and the biopsy. 38
29052899 2017
46
Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene. 38
28299823 2017
47
[Monilethrix is a hereditary hair shaft disorder]. 38
28918778 2017
48
Value of dermoscopy for the diagnosis of monilethrix. 38
29469711 2017
49
Discreet Monilethrix: De novo Mutation on the Example of Polish Families. 38
28839397 2017
50
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. 38
27965375 2017

Variations for Monilethrix

ClinVar genetic disease variations for Monilethrix:

6 (show top 50) (show all 73)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KRT81 NM_002281.4(KRT81): c.1237G> A (p.Glu413Lys) single nucleotide variant Pathogenic rs57419521 12:52680896-52680896 12:52287112-52287112
2 KRT81 NM_002281.4(KRT81): c.1204G> A (p.Glu402Lys) single nucleotide variant Pathogenic rs56821304 12:52680929-52680929 12:52287145-52287145
3 KRT86 NM_001320198.2(KRT86): c.1237G> A (p.Glu413Lys) single nucleotide variant Pathogenic rs121909129 12:52700054-52700054 12:52306270-52306270
4 KRT86 NM_001320198.2(KRT86): c.1239G> T (p.Glu413Asp) single nucleotide variant Pathogenic rs121909130 12:52700056-52700056 12:52306272-52306272
5 KRT86 NM_001320198.2(KRT86): c.1204G> A (p.Glu402Lys) single nucleotide variant Pathogenic rs60687604 12:52700021-52700021 12:52306237-52306237
6 KRT86 NM_001320198.2(KRT86): c.340A> G (p.Asn114Asp) single nucleotide variant Pathogenic rs61091894 12:52696040-52696040 12:52302256-52302256
7 KRT86 NM_001320198.2(KRT86): c.1204G> C (p.Glu402Gln) single nucleotide variant Pathogenic rs60687604 12:52700021-52700021 12:52306237-52306237
8 KRT86 NM_001320198.2(KRT86): c.353C> A (p.Ala118Glu) single nucleotide variant Pathogenic rs60612575 12:52696053-52696053 12:52302269-52302269
9 KRT83 NM_002282.3(KRT83): c.1252G> A (p.Glu418Lys) single nucleotide variant Pathogenic rs1438087533 12:52709687-52709687 12:52315903-52315903
10 KRT81 NM_002281.4(KRT81): c.846T> A (p.Tyr282Ter) single nucleotide variant Pathogenic 12:52681822-52681822 12:52288038-52288038
11 KRT83 NM_002282.3(KRT83): c.1219G> A (p.Glu407Lys) single nucleotide variant Likely pathogenic rs57802288 12:52709720-52709720 12:52315936-52315936
12 KRT83 NM_002282.3(KRT83): c.*225C> T single nucleotide variant Uncertain significance rs886049620 12:52708190-52708190 12:52314406-52314406
13 KRT83 NM_002282.3(KRT83): c.*107T> G single nucleotide variant Uncertain significance rs771547026 12:52708308-52708308 12:52314524-52314524
14 KRT83 NM_002282.3(KRT83): c.891G> C (p.Glu297Asp) single nucleotide variant Uncertain significance rs886049621 12:52710667-52710667 12:52316883-52316883
15 KRT83 NM_002282.3(KRT83): c.815G> A (p.Arg272Gln) single nucleotide variant Uncertain significance rs369510264 12:52710743-52710743 12:52316959-52316959
16 KRT83 NM_002282.3(KRT83): c.183C> T (p.Ala61=) single nucleotide variant Uncertain significance rs755364196 12:52714937-52714937 12:52321153-52321153
17 KRT83 NM_002282.3(KRT83): c.452G> A (p.Cys151Tyr) single nucleotide variant Uncertain significance rs201680950 12:52713081-52713081 12:52319297-52319297
18 KRT83 NM_002282.3(KRT83): c.593+15G> A single nucleotide variant Uncertain significance rs756856491 12:52712925-52712925 12:52319141-52319141
19 KRT83 NM_002282.3(KRT83): c.310G> A (p.Ala104Thr) single nucleotide variant Uncertain significance rs779172264 12:52714810-52714810 12:52321026-52321026
20 KRT83 NM_002282.3(KRT83): c.184G> A (p.Gly62Ser) single nucleotide variant Uncertain significance rs749653752 12:52714936-52714936 12:52321152-52321152
21 KRT83 NM_002282.3(KRT83): c.173G> C (p.Gly58Ala) single nucleotide variant Uncertain significance rs776629118 12:52714947-52714947 12:52321163-52321163
22 KRT83 NM_002282.3(KRT83): c.1041+5C> T single nucleotide variant Uncertain significance rs377435485 12:52710247-52710247 12:52316463-52316463
23 KRT83 NM_002282.3(KRT83): c.957C> A (p.Thr319=) single nucleotide variant Uncertain significance rs755719932 12:52710336-52710336 12:52316552-52316552
24 KRT83 NM_002282.3(KRT83): c.502C> T (p.Arg168Trp) single nucleotide variant Uncertain significance rs778964859 12:52713031-52713031 12:52319247-52319247
25 KRT83 NM_002282.3(KRT83): c.485G> T (p.Gly162Val) single nucleotide variant Uncertain significance rs140783754 12:52713048-52713048 12:52319264-52319264
26 KRT83 NM_002282.3(KRT83): c.83G> T (p.Ser28Ile) single nucleotide variant Uncertain significance rs886049622 12:52715037-52715037 12:52321253-52321253
27 KRT83 NM_002282.3(KRT83): c.1398G> A (p.Leu466=) single nucleotide variant Uncertain significance rs748151673 12:52708499-52708499 12:52314715-52314715
28 KRT83 NM_002282.3(KRT83): c.1014A> G (p.Thr338=) single nucleotide variant Uncertain significance rs202206430 12:52710279-52710279 12:52316495-52316495
29 KRT83 NM_002282.3(KRT83): c.910A> T (p.Ser304Cys) single nucleotide variant Uncertain significance rs770757336 12:52710648-52710648 12:52316864-52316864
30 KRT83 NM_002282.3(KRT83): c.877C> T (p.Arg293Cys) single nucleotide variant Uncertain significance rs143037477 12:52710681-52710681 12:52316897-52316897
31 KRT83 NM_002282.3(KRT83): c.768A> G (p.Gln256=) single nucleotide variant Likely benign rs143202217 12:52710790-52710790 12:52317006-52317006
32 KRT83 NM_002282.3(KRT83): c.599_601AAG[2] (p.Glu202del) short repeat Likely benign rs149269323 12:52711741-52711743 12:52317957-52317959
33 KRT83 NM_002282.3(KRT83): c.497C> G (p.Thr166Ser) single nucleotide variant Likely benign rs200690744 12:52713036-52713036 12:52319252-52319252
34 KRT83 NM_002282.3(KRT83): c.67T> G (p.Cys23Gly) single nucleotide variant Likely benign rs61485872 12:52715053-52715053 12:52321269-52321269
35 KRT83 NM_002282.3(KRT83): c.1100G> A (p.Ser367Asn) single nucleotide variant Likely benign rs528339841 12:52709839-52709839 12:52316055-52316055
36 KRT83 NM_002282.3(KRT83): c.1084G> A (p.Gly362Ser) single nucleotide variant Likely benign rs140635030 12:52709855-52709855 12:52316071-52316071
37 KRT83 NM_002282.3(KRT83): c.1423C> T (p.Pro475Ser) single nucleotide variant Likely benign rs200232339 12:52708474-52708474 12:52314690-52314690
38 KRT83 NM_002282.3(KRT83): c.328_330GAG[1] (p.Glu111del) short repeat Likely benign rs563212614 12:52714787-52714789 12:52321003-52321005
39 KRT83 NM_002282.3(KRT83): c.699C> T (p.Asn233=) single nucleotide variant Likely benign rs186866078 12:52711516-52711516 12:52317732-52317732
40 KRT83 NM_002282.3(KRT83): c.676C> T (p.Arg226Cys) single nucleotide variant Likely benign rs192947508 12:52711539-52711539 12:52317755-52317755
41 KRT83 NM_002282.3(KRT83): c.*206_*207del deletion Likely benign rs377671303 12:52708208-52708209 12:52314424-52314425
42 KRT83 NM_002282.3(KRT83): c.514G> A (p.Glu172Lys) single nucleotide variant Likely benign rs140443749 12:52713019-52713019 12:52319235-52319235
43 KRT83 NM_002282.3(KRT83): c.312G> A (p.Ala104=) single nucleotide variant Likely benign rs111267865 12:52714808-52714808 12:52321024-52321024
44 KRT83 NM_002282.3(KRT83): c.1268G> C (p.Cys423Ser) single nucleotide variant Likely benign rs148757217 12:52709122-52709122 12:52315338-52315338
45 KRT83 NM_002282.3(KRT83): c.1338C> T (p.Cys446=) single nucleotide variant Likely benign rs11836080 12:52708559-52708559 12:52314775-52314775
46 KRT83 NM_002282.3(KRT83): c.1018G> A (p.Glu340Lys) single nucleotide variant Likely benign rs553152302 12:52710275-52710275 12:52316491-52316491
47 KRT83 NM_002282.3(KRT83): c.760A> G (p.Ile254Val) single nucleotide variant Likely benign rs150867374 12:52710798-52710798 12:52317014-52317014
48 KRT83 NM_002282.3(KRT83): c.667G> A (p.Ala223Thr) single nucleotide variant Likely benign rs149581248 12:52711548-52711548 12:52317764-52317764
49 KRT83 NM_002282.3(KRT83): c.666C> A (p.Cys222Ter) single nucleotide variant Likely benign rs2857667 12:52711549-52711549 12:52317765-52317765
50 KRT83 NM_002282.3(KRT83): c.633C> T (p.Asn211=) single nucleotide variant Likely benign rs140012906 12:52711715-52711715 12:52317931-52317931

UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:

74 (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

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 TGM1 TCHH KRT86 KRT83 KRT81 KRT6A
2
Show member pathways
11.73 TGM1 TCHH KRT86 KRT83 KRT81 KRT6A
3
Show member pathways
11.37 KRT6A KRT17 KRT16

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 TGM1 TCHH KRT86 KRT83 KRT81 KRT6A
2 cornified envelope GO:0001533 9.33 TGM1 TCHH DSG4
3 keratin filament GO:0045095 9.26 KRT86 KRT83 KRT81 KRT6A
4 intermediate filament GO:0005882 9.1 KRT86 KRT83 KRT81 KRT6A KRT17 KRT16

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.61 TGM1 TCHH KRT86 KRT83 KRT81 KRT6A
2 cytoskeleton organization GO:0007010 9.43 KRT6A KRT16
3 morphogenesis of an epithelium GO:0002009 9.4 KRT6A KRT16
4 hair cycle GO:0042633 9.37 KRT83 KRT16
5 keratinocyte differentiation GO:0030216 9.33 TGM1 KRT16 DSG4
6 intermediate filament organization GO:0045109 9.32 TCHH KRT17
7 cornification GO:0070268 9.28 TGM1 TCHH KRT86 KRT83 KRT81 KRT6A
8 epidermis development GO:0008544 9.26 KRT83 KRT17

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 KRT6A KRT17 KRT16
2 structural molecule activity GO:0005198 8.8 KRT6A KRT17 KRT16

Sources for Monilethrix

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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62 PubMed
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69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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