MNLIX
MCID: MNL001
MIFTS: 49

Monilethrix (MNLIX)

Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Monilethrix

MalaCards integrated aliases for Monilethrix:

Name: Monilethrix 57 11 19 42 58 75 73 12 53 43 14 38
Beaded Hair 42 28 5
Mnlix 57 73
Moniliform Hair Syndrome 58
Nodose Hair 19

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58 , Autosomal dominant 57

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
variable severity
genetic heterogeneity
hair regrowth may occur later in life


HPO:

30
monilethrix:
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0050472
OMIM® 57 158000
MeSH 43 D056734
NCIt 49 C84894
SNOMED-CT 68 69488000
ICD10 31 Q84.1
MESH via Orphanet 44 D056734
ICD10 via Orphanet 32 Q84.1
UMLS via Orphanet 72 C0546966
Orphanet 58 ORPHA573
MedGen 40 C0546966
UMLS 71 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) (Updated 08-Dec-2022)

MalaCards based summary: Monilethrix, also known as beaded hair, is related to hypotrichosis 6 and keratosis. An important gene associated with Monilethrix is KRT83 (Keratin 83), and among its related pathways/superpathways are Nervous system development and Keratinization. Affiliated tissues include skin and cortex, and related phenotypes are abnormality of the nail and abnormal eyelash morphology

MedlinePlus Genetics: 42 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.

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 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 severity and course may vary from person to person.

Disease Ontology: 11 A hair 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.

Orphanet: 58 A rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.

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 93)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 6 32.0 LPAR6 LIPH KRT86 KRT85 KRT83 KRT81
2 keratosis 31.1 KRT86 KRT17 KRT16
3 hypotrichosis 8 31.0 LPAR6 LIPH KRT85 KRT83 KRT74 KRT71
4 hypotrichosis 7 30.3 LPAR6 LIPH KRT74 KRT25 DSG4 CDSN
5 hair disease 30.3 LPAR6 LIPH KRT86 KRT83 KRT81 KRT74
6 hypotrichosis 30.0 LPAR6 LIPH KRT86 KRT83 KRT74 KRT71
7 palmoplantar keratosis 30.0 KRT6B KRT6A KRT17 KRT16
8 skin disease 29.8 KRT6A KRT17 KRT16 DSG4 CDSN
9 alopecia 10.5
10 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
11 hypotrichosis 1 10.4 LIPH KRT74
12 helix syndrome 10.3
13 diffuse alopecia areata 10.3 LIPH KRT86
14 mucinoses 10.3 KRT74 KRT71
15 hypotrichosis simplex 10.2 LPAR6 LIPH DSG4
16 epidermoid cysts 10.2 KRT6A KRT17
17 ectodermal dysplasia 6, hair/nail type 10.2 KRT85 KRT74 DSG4
18 ectodermal dysplasia 5, hair/nail type 10.2 KRT85 KRT74 DSG4
19 pachyonychia congenita 2 10.2 KRT6B KRT17 KRT16
20 dermatopathia pigmentosa reticularis 10.2 KRT86 KRT85 KRT83
21 ectodermal dysplasia 9, hair/nail type 10.2 KRT85 KRT74
22 hypotrichosis simplex of the scalp 10.2 KRT74 CDSN
23 median rhomboid glossitis 10.2 KRT6B KRT6A
24 ectodermal dysplasia 7, hair/nail type 10.2 KRT85 KRT74 DSG4
25 woolly hair, autosomal recessive 3 10.2 LPAR6 LIPH KRT25
26 loose anagen hair syndrome 10.2 KRT86 KRT75
27 nonsyndromic congenital nail disorder 10.2 KRT81 KRT74 KRT71
28 ectodermal dysplasia 10.2 KRT85 KRT74 KRT17 KRT16
29 palmoplantar keratoderma, nonepidermolytic 10.2 KRT6A KRT17 KRT16 DSG4
30 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 10.2 DSG4 CDSN
31 nail disorder, nonsyndromic congenital, 4 10.2 KRT81 KRT74 KRT71 KRT17
32 hypotrichosis 3 10.2 LPAR6 LIPH KRT74 KRT71
33 hypotrichosis 4 10.2 LPAR6 LIPH KRT74 KRT71
34 epidermolysis bullosa simplex localized type 10.2 KRT17 KRT16
35 focal palmoplantar keratoderma 10.1 KRT6B KRT6A KRT17 KRT16
36 alopecia areata 10.1
37 ichthyosis 10.1 KRT86 KRT2 KRT17 KRT16
38 hypotrichosis, congenital, with juvenile macular dystrophy 10.1 LPAR6 LIPH DSG4 CDSN
39 glossitis 10.1 KRT6B KRT6A KRT17 KRT16
40 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.1 KRT86 KRT85 KRT83 KRT74 KRT71
41 corneal dystrophy 10.1 KRT6A KRT17 KRT16
42 hypertelorism 10.1
43 cataract 10.1
44 erythrokeratoderma ''en cocardes'' 10.1
45 hypotrichosis 11 10.1 LPAR6 LIPH KRT74 DSG4 CDSN
46 combined oxidative phosphorylation deficiency 6 10.1 KRT84 KRT82
47 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 10.0 KRT75 KRT6B KRT6A KRT17 KRT16
48 palmoplantar keratoderma, nonepidermolytic, focal 1 10.0 KRT82 KRT6B KRT6A KRT2 KRT16
49 epidermolysis bullosa simplex 10.0 KRT6B KRT6A KRT2 KRT17 KRT16
50 pseudomonilethrix 10.0

Graphical network of the top 20 diseases related to Monilethrix:



Diseases related to Monilethrix

Symptoms & Phenotypes for Monilethrix

Human phenotypes related to Monilethrix:

58 30 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the nail 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001597
2 abnormal eyelash morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000499
3 fine hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002213
4 abnormal eyebrow morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000534
5 slow-growing hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002217
6 brittle hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002299
7 follicular hyperkeratosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007502
8 patchy alopecia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002232
9 sparse hair 30 Hallmark (90%) HP:0008070
10 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
11 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
12 abnormality of the dentition 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000164
13 cognitive impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100543
14 schizophrenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100753
15 alopecia 30 HP:0001596
16 hypotrichosis 58 Very frequent (99-80%)
17 nail dysplasia 30 HP:0002164
18 keratosis pilaris 30 HP:0032152
19 nail dystrophy 30 HP:0008404
20 perifollicular hyperkeratosis 30 HP:0007468

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Monilethrix according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 CDSN DSG4 KRT16 KRT17 KRT2 KRT25
2 no effect GR00402-S-2 10.14 CDSN KRT17 KRT2 KRT25 KRT6B KRT71

MGI Mouse Phenotypes related to Monilethrix:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.4 CDSN DSG4 KRT16 KRT17 KRT2 KRT25

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 28 KRT81 KRT83 KRT86

Anatomical Context for Monilethrix

Organs/tissues related to Monilethrix:

MalaCards : Skin, Cortex

Publications for Monilethrix

Articles related to Monilethrix:

(show top 50) (show all 219)
# Title Authors PMID Year
1
Novel KRT83 and KRT86 mutations associated with monilethrix. 62 57 5
25557232 2015
2
Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. 62 57 5
19400537 2009
3
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. 62 57 5
15744029 2005
4
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. 62 57 5
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. 62 57 5
9665406 1998
6
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. 62 57 5
9241275 1997
7
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. 53 62 57
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. 53 62 5
15050877 2004
9
Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. 53 62 5
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. 53 62 5
10469314 1999
11
A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. 53 62 5
9804356 1998
12
More than one gene involved in monilethrix: intracellular but also extracellular players. 62 57
16702971 2006
13
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. 62 5
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. 62 57
9349326 1997
15
Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13. 62 57
8618025 1996
16
A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13. 62 57
8634717 1995
17
Linkage data on monilethrix. 62 57
3356162 1988
18
Monilethrix: an ultrastructural study. 62 57
6520260 1984
19
The genetic analysis of monilethrix in a large inbred kindred. 62 57
7091190 1982
20
Monilethrix. 62 57
640105 1978
21
MONILETHRIX: ITS OCCURRENCE IN SEVEN GENERATIONS, WITH ONE CASE THAT RESPONDED TO ENDOCRINE THERAPY. 62 57
14065471 1963
22
[ON INFORMATION ON THE MONILETHRIX SYNDROME]. 62 57
14046099 1963
23
An investigation of monilethrix. 62 57
13864139 1962
24
[On monilethrix]. 62 57
13991022 1962
25
Monilethrix; report of three cases with family history. 62 57
13580285 1958
26
MONILETHRIX : A GROUP OF TWENTY-TWO CASES. 62 57
20777212 1932
27
Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle. 5
9457912 1998
28
Sequence data and chromosomal localization of human type I and type II hair keratin genes. 5
7556444 1995
29
Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. 53 62
19683850 2009
30
[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. 53 62
18393232 2008
31
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. 53 62
16439973 2006
32
De novo mutations in monilethrix. 53 62
14714571 2003
33
Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. 53 62
12653715 2003
34
Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. 53 62
12771477 2003
35
The molecular genetics of keratin disorders. 53 62
12688839 2003
36
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. 53 62
10504448 1999
37
Molecular analysis of an extended Palestinian family from Israel with monilethrix. 53 62
11336449 1999
38
Gene detection in a family with monilethrix and treatment with 5% topical minoxidil. 62
36382623 2022
39
Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families. 62
35146972 2022
40
A new KRT86 mutation in a Chinese family with monilethrix. 62
34610158 2022
41
Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness. 62
34272078 2021
42
Review of oral minoxidil as treatment of hair disorders: in search of the perfect dose. 62
33660357 2021
43
Oral minoxidil treatment for hair loss: A review of efficacy and safety. 62
32622136 2021
44
Nanomechanical properties of Monilethrix affected hair are independent of phenotype. 62
33309724 2021
45
A Case of Monilethrix with Trichoscopic Changes. 62
33531747 2020
46
Monilethrix. 62
32446725 2020
47
Low-dose oral minoxidil as treatment for non-scarring alopecia: a systematic review. 62
32516434 2020
48
Monilethrix: A Report of Three Cases in Children Confirmed with Dermoscopy. 62
32055512 2020
49
Off-Label Use of Topical Minoxidil in Alopecia: A Review. 62
30604379 2019
50
Monilethrix: A case report imaged by trichoscopy, reflectance confocal microscopy and histopathology. 62
29400908 2018

Variations for Monilethrix

ClinVar genetic disease variations for Monilethrix:

5 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT81, KRT86 NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys) SNV Pathogenic
7609 rs121909129 GRCh37: 12:52700054-52700054
GRCh38: 12:52306270-52306270
2 KRT81, KRT86 NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp) SNV Pathogenic
7610 rs121909130 GRCh37: 12:52700056-52700056
GRCh38: 12:52306272-52306272
3 KRT81, KRT86 NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys) SNV Pathogenic
7611 rs60687604 GRCh37: 12:52700021-52700021
GRCh38: 12:52306237-52306237
4 KRT81, KRT86 NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp) SNV Pathogenic
7612 rs61091894 GRCh37: 12:52696040-52696040
GRCh38: 12:52302256-52302256
5 KRT81, KRT86 NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln) SNV Pathogenic
7613 rs60687604 GRCh37: 12:52700021-52700021
GRCh38: 12:52306237-52306237
6 KRT81, KRT86 NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu) SNV Pathogenic
7614 rs60612575 GRCh37: 12:52696053-52696053
GRCh38: 12:52302269-52302269
7 KRT81, KRT86 NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys) SNV Pathogenic
7502 rs56821304 GRCh37: 12:52680929-52680929
GRCh38: 12:52287145-52287145
8 KRT81, KRT86 NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys) SNV Pathogenic
7501 rs57419521 GRCh37: 12:52680896-52680896
GRCh38: 12:52287112-52287112
9 KRT83 NM_002282.3(KRT83):c.1252G>A (p.Glu418Lys) SNV Pathogenic
446110 rs1438087533 GRCh37: 12:52709687-52709687
GRCh38: 12:52315903-52315903
10 KRT83 NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) SNV Likely Pathogenic
6837 rs57802288 GRCh37: 12:52709720-52709720
GRCh38: 12:52315936-52315936
11 KRT83 NM_002282.3(KRT83):c.828G>A (p.Met276Ile) SNV Conflicting Interpretations Of Pathogenicity
880709 rs200274404 GRCh37: 12:52710730-52710730
GRCh38: 12:52316946-52316946
12 KRT81, KRT86 NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter) SNV Conflicting Interpretations Of Pathogenicity
561048 rs138597671 GRCh37: 12:52681822-52681822
GRCh38: 12:52288038-52288038
13 KRT83 NM_002282.3(KRT83):c.260C>T (p.Ser87Leu) SNV Uncertain Significance
884067 rs538643123 GRCh37: 12:52714860-52714860
GRCh38: 12:52321076-52321076
14 KRT83 NM_002282.3(KRT83):c.*102T>G SNV Uncertain Significance
880639 rs955581900 GRCh37: 12:52708313-52708313
GRCh38: 12:52314529-52314529
15 KRT83 NM_002282.3(KRT83):c.*60C>A SNV Uncertain Significance
880640 rs1938655369 GRCh37: 12:52708355-52708355
GRCh38: 12:52314571-52314571
16 KRT83 NM_002282.3(KRT83):c.1425C>T (p.Pro475=) SNV Uncertain Significance
880641 rs757638030 GRCh37: 12:52708472-52708472
GRCh38: 12:52314688-52314688
17 KRT83 NM_002282.3(KRT83):c.-58C>A SNV Uncertain Significance
880774 rs573598308 GRCh37: 12:52715177-52715177
GRCh38: 12:52321393-52321393
18 KRT83 NM_002282.3(KRT83):c.1356G>A (p.Pro452=) SNV Uncertain Significance
882052 rs764238442 GRCh37: 12:52708541-52708541
GRCh38: 12:52314757-52314757
19 KRT83 NM_002282.3(KRT83):c.*268A>C SNV Uncertain Significance
883919 rs777492822 GRCh37: 12:52708147-52708147
GRCh38: 12:52314363-52314363
20 KRT83 NM_002282.3(KRT83):c.*135C>T SNV Uncertain Significance
883920 rs956056629 GRCh37: 12:52708280-52708280
GRCh38: 12:52314496-52314496
21 KRT83 NM_002282.3(KRT83):c.*225C>T SNV Uncertain Significance
309487 rs886049620 GRCh37: 12:52708190-52708190
GRCh38: 12:52314406-52314406
22 KRT83 NM_002282.3(KRT83):c.173G>C (p.Gly58Ala) SNV Uncertain Significance
309543 rs776629118 GRCh37: 12:52714947-52714947
GRCh38: 12:52321163-52321163
23 KRT83 NM_002282.3(KRT83):c.1014A>G (p.Thr338=) SNV Uncertain Significance
309510 rs202206430 GRCh37: 12:52710279-52710279
GRCh38: 12:52316495-52316495
24 KRT83 NM_002282.3(KRT83):c.502C>T (p.Arg168Trp) SNV Uncertain Significance
309532 rs778964859 GRCh37: 12:52713031-52713031
GRCh38: 12:52319247-52319247
25 KRT83 NM_002282.3(KRT83):c.184G>A (p.Gly62Ser) SNV Uncertain Significance
309541 rs749653752 GRCh37: 12:52714936-52714936
GRCh38: 12:52321152-52321152
26 KRT83 NM_002282.3(KRT83):c.83G>T (p.Ser28Ile) SNV Uncertain Significance
309545 rs886049622 GRCh37: 12:52715037-52715037
GRCh38: 12:52321253-52321253
27 KRT83 NM_002282.3(KRT83):c.183C>T (p.Ala61=) SNV Uncertain Significance
309542 rs755364196 GRCh37: 12:52714937-52714937
GRCh38: 12:52321153-52321153
28 KRT83 NM_002282.3(KRT83):c.485G>T (p.Gly162Val) SNV Uncertain Significance
309534 rs140783754 GRCh37: 12:52713048-52713048
GRCh38: 12:52319264-52319264
29 KRT83 NM_002282.3(KRT83):c.514G>A (p.Glu172Lys) SNV Uncertain Significance
309531 rs140443749 GRCh37: 12:52713019-52713019
GRCh38: 12:52319235-52319235
30 KRT83 NM_002282.3(KRT83):c.*44C>T SNV Uncertain Significance
309492 rs186532103 GRCh37: 12:52708371-52708371
GRCh38: 12:52314587-52314587
31 KRT83 NM_002282.3(KRT83):c.815G>A (p.Arg272Gln) SNV Uncertain Significance
309518 rs369510264 GRCh37: 12:52710743-52710743
GRCh38: 12:52316959-52316959
32 KRT83 NM_002282.3(KRT83):c.*107T>G SNV Uncertain Significance
309491 rs771547026 GRCh37: 12:52708308-52708308
GRCh38: 12:52314524-52314524
33 KRT83 NM_002282.3(KRT83):c.891G>C (p.Glu297Asp) SNV Uncertain Significance
309514 rs886049621 GRCh37: 12:52710667-52710667
GRCh38: 12:52316883-52316883
34 KRT83 NM_002282.3(KRT83):c.1398G>A (p.Leu466=) SNV Uncertain Significance
309497 rs748151673 GRCh37: 12:52708499-52708499
GRCh38: 12:52314715-52314715
35 KRT83 NM_002282.3(KRT83):c.1018G>A (p.Glu340Lys) SNV Likely Benign
309508 rs553152302 GRCh37: 12:52710275-52710275
GRCh38: 12:52316491-52316491
36 KRT83 NM_002282.3(KRT83):c.*206_*207del DEL Likely Benign
309488 rs377671303 GRCh37: 12:52708208-52708209
GRCh38: 12:52314424-52314425
37 KRT83 NM_002282.3(KRT83):c.310G>A (p.Ala104Thr) SNV Likely Benign
309540 rs779172264 GRCh37: 12:52714810-52714810
GRCh38: 12:52321026-52321026
38 KRT83 NM_002282.3(KRT83):c.957C>A (p.Thr319=) SNV Likely Benign
309512 rs755719932 GRCh37: 12:52710336-52710336
GRCh38: 12:52316552-52316552
39 KRT83 NM_002282.3(KRT83):c.599AAG[2] (p.Glu202del) MICROSAT Likely Benign
309528 rs149269323 GRCh37: 12:52711741-52711743
GRCh38: 12:52317957-52317959
40 KRT83 NM_002282.3(KRT83):c.666C>A (p.Cys222Ter) SNV Likely Benign
309526 rs2857667 GRCh37: 12:52711549-52711549
GRCh38: 12:52317765-52317765
41 KRT83 NM_002282.3(KRT83):c.667G>A (p.Ala223Thr) SNV Likely Benign
309524 rs149581248 GRCh37: 12:52711548-52711548
GRCh38: 12:52317764-52317764
42 KRT83 NM_002282.3(KRT83):c.1302C>A (p.Ser434Arg) SNV Likely Benign
882054 rs373203286 GRCh37: 12:52708595-52708595
GRCh38: 12:52314811-52314811
43 KRT83 NM_002282.3(KRT83):c.328GAG[1] (p.Glu111del) MICROSAT Likely Benign
309538 rs563212614 GRCh37: 12:52714787-52714789
GRCh38: 12:52321003-52321005
44 KRT83 NM_002282.3(KRT83):c.768A>G (p.Gln256=) SNV Benign
309519 rs143202217 GRCh37: 12:52710790-52710790
GRCh38: 12:52317006-52317006
45 KRT83 NM_002282.3(KRT83):c.790G>A (p.Val264Met) SNV Benign
880710 rs201459857 GRCh37: 12:52710768-52710768
GRCh38: 12:52316984-52316984
46 KRT83 NM_002282.3(KRT83):c.520G>C (p.Val174Leu) SNV Benign
883255 rs181439241 GRCh37: 12:52713013-52713013
GRCh38: 12:52319229-52319229
47 KRT83 NM_002282.3(KRT83):c.1327G>A (p.Gly443Arg) SNV Benign
882053 rs144061807 GRCh37: 12:52708570-52708570
GRCh38: 12:52314786-52314786
48 KRT83 NM_002282.3(KRT83):c.945G>A (p.Arg315=) SNV Benign
883999 rs138807826 GRCh37: 12:52710348-52710348
GRCh38: 12:52316564-52316564
49 KRT83 NM_002282.3(KRT83):c.389G>A (p.Arg130His) SNV Benign
884065 rs139360978 GRCh37: 12:52713144-52713144
GRCh38: 12:52319360-52319360
50 KRT83 NM_002282.3(KRT83):c.363A>G (p.Arg121=) SNV Benign
884066 rs571144595 GRCh37: 12:52714757-52714757
GRCh38: 12:52320973-52320973

UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:

73 (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 rs1438087533
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
13.27 KRT86 KRT85 KRT84 KRT83 KRT82 KRT81
2
Show member pathways
12.12 KRT86 KRT85 KRT84 KRT83 KRT82 KRT81
3
Show member pathways
11.95 KRT6A KRT2 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 10.46 KRT86 KRT85 KRT84 KRT83 KRT82 KRT81
2 intermediate filament GO:0005882 9.96 KRT16 KRT17 KRT2 KRT25 KRT39 KRT6A
3 cornified envelope GO:0001533 9.9 CDSN DSG4 KRT16 KRT17 KRT2 KRT75
4 keratin filament GO:0045095 9.77 KRT17 KRT2 KRT25 KRT6A KRT6B KRT71

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament organization GO:0045109 10.16 KRT16 KRT17 KRT2 KRT25 KRT39 KRT6A
2 epithelial cell differentiation GO:0030855 9.93 KRT39 KRT17 KRT16
3 epidermis development GO:0008544 9.87 KRT85 KRT83 KRT2 CDSN
4 hair follicle morphogenesis GO:0031069 9.85 KRT71 KRT25 KRT17
5 keratinocyte differentiation GO:0030216 9.83 KRT16 DSG4 CDSN
6 keratinization GO:0031424 9.77 KRT16 KRT17 KRT2 KRT6A KRT6B KRT71
7 keratinocyte migration GO:0051546 9.71 KRT2 KRT16
8 morphogenesis of an epithelium GO:0002009 9.65 KRT6A KRT17 KRT16
9 hair cycle GO:0042633 9.63 KRT16 KRT25 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 9.85 KRT84 KRT6B KRT6A KRT2 KRT16
2 structural molecule activity GO:0005198 9.7 KRT85 KRT75 KRT39 KRT25 KRT17 KRT16
3 structural constituent of skin epidermis GO:0030280 9.7 KRT2 KRT6A KRT6B KRT71 KRT74 KRT75

Sources for Monilethrix

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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