MCID: PLT022
MIFTS: 33

Pili Torti, Early-Onset

Categories: Rare diseases, Skin diseases
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Aliases & Classifications for Pili Torti, Early-Onset

MalaCards integrated aliases for Pili Torti, Early-Onset:

Name: Pili Torti, Early-Onset 57
Pili Torti 19 58 75 53
Twisted Hair 57 19 58
Coarse, Dry, Lusterless Hair Which Breaks off Easily 19
Pili Torti, Ronchese Type 57

Characteristics:


Inheritance:

Pili Torti, Early-Onset: Autosomal dominant 57
Pili Torti: Autosomal recessive 58

Age Of Onset:

Pili Torti: Infancy,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in early childhood
hair may normalize at puberty


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 261900
ICD10 via Orphanet 32 Q84.1
UMLS via Orphanet 72 C0263491
Orphanet 58 ORPHA2889
MedGen 40 C0263491

Summaries for Pili Torti, Early-Onset

GARD: 19 Pili torti is a rare hair condition characterized by fragile hair. In Pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired. In the inherited form, symptoms tend to be present from early childhood. It can occur alone or as part of other diseases like ectodermal dysplasias, Menke disease, Bjornstand syndrome, or Bazex syndrome. If Pili torti is detected, it is necessary to investigate possible neurological disorders, hearing loss, and defects in the hair, nails, sweat glands and teeth.

MalaCards based summary: Pili Torti, Early-Onset, also known as pili torti, is related to abnormal hair, joint laxity, and developmental delay and crandall syndrome. An important gene associated with Pili Torti, Early-Onset is KRT17 (Keratin 17). Affiliated tissues include skin, tongue and eye, and related phenotypes are pili torti and abnormality of the nail

OMIM®: 57 Pili torti, or twisted hair, is a condition in which the hair shafts are flattened and rotated along their long axis. Hairs are fragile and break at short length. Some patients may have associated dental or nail findings, and many have resolution of the fragile hair at puberty (review by Dawber, 1996). Pili torti is also a feature in several disorders, including Bjornstad syndrome (BJS; 262000), Bazex syndrome (BZX; 301845), and Menkes disease (309400). (261900) (Updated 24-Oct-2022)

Orphanet: 58 Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).

Wikipedia: 75 Pili torti (singular pilus tortus; also known as "twisted hairs") is characterized by short and brittle... more...

Related Diseases for Pili Torti, Early-Onset

Diseases related to Pili Torti, Early-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 abnormal hair, joint laxity, and developmental delay 11.9
2 crandall syndrome 11.4
3 cleft lip/palate-ectodermal dysplasia syndrome 11.4
4 bustos simosa pinto cisternas syndrome 11.4
5 trichodysplasia-xeroderma 11.4
6 acrofacial dysostosis, palagonia type 11.4
7 cleft lip palate oligodontia syndactyly pili torti 11.2
8 ectodermal dysplasia-syndactyly syndrome 1 11.2
9 acrofacial dysostosis, patagonia type 11.2
10 trueb burg bottani syndrome 11.2
11 pili torti onychodysplasia 11.2
12 hypotrichosis 4 11.1
13 bjornstad syndrome 11.1
14 alopecia 10.5
15 sensorineural hearing loss 10.4
16 ectodermal dysplasia 10.4
17 alopecia areata 10.4
18 menkes disease 10.4
19 rapp-hodgkin syndrome 10.3
20 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
21 cleft lip 10.3
22 cleft lip/palate 10.3
23 clouston syndrome 10.2
24 chromosome 2q35 duplication syndrome 10.2
25 uncombable hair syndrome 1 10.2
26 netherton syndrome 10.2
27 hypotrichosis 7 10.2
28 superficial mycosis 10.2
29 tooth agenesis 10.2
30 anhidrosis 10.2
31 black piedra 10.2
32 hypotrichosis 10.2
33 frontal fibrosing alopecia 10.2
34 ankyloblepharon-ectodermal defects-cleft lip/palate 10.1
35 alopecia, androgenetic, 1 10.1
36 epidermolytic hyperkeratosis 10.1
37 cleft palate, isolated 10.1
38 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.1
39 ichthyosis vulgaris 10.1
40 monilethrix 10.1
41 nail disorder, nonsyndromic congenital, 1 10.1
42 split-hand/foot malformation 1 10.1
43 citrullinemia, classic 10.1
44 taurodontism 10.1
45 bazex syndrome 10.1
46 ectodermal dysplasia 4, hair/nail type 10.1
47 dermatitis, atopic 10.1
48 dermatitis, atopic, 2 10.1
49 androgenic alopecia 10.1
50 primary cutaneous t-cell non-hodgkin lymphoma 10.1

Graphical network of the top 20 diseases related to Pili Torti, Early-Onset:



Diseases related to Pili Torti, Early-Onset

Symptoms & Phenotypes for Pili Torti, Early-Onset

Human phenotypes related to Pili Torti, Early-Onset:

58 30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pili torti 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003777
2 abnormality of the nail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001597
3 alopecia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001596
4 abnormal eyebrow morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000534
5 brittle hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002299
6 abnormal dental enamel morphology 30 Frequent (33%) HP:0000682
7 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
8 abnormality of the dentition 58 Frequent (79-30%)
9 coarse hair 30 HP:0002208
10 abnormality of dental enamel 58 Frequent (79-30%)
11 abnormality of hair texture 58 Very frequent (99-80%)
12 dry hair 30 HP:0011359
13 hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes 30 HP:0003329
14 enamel hypoplasia 30 HP:0006297

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Teeth:
enamel hypoplasia may occur

Skin Nails Hair Nails:
nail dystrophy may occur

Skin Nails Hair Skin:
hyperkeratosis pilaris may occur

Skin Nails Hair Hair:
brittle, dry hair
flattened hair
hair appears spangled in reflective light
hair twists on long axis, 90 to 360 degrees
hair fragility

Clinical features from OMIM®:

261900 (Updated 24-Oct-2022)

GenomeRNAi Phenotypes related to Pili Torti, Early-Onset according to GeneCards Suite gene sharing:

25 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.5 KRT17
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.5 KRT17
3 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.5 CP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.5 CP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.5 KRT17
6 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.5 KRT17
7 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.5 KRT17
8 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.5 KRT17
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.5 KRT17
10 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.5 CP
11 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.5 KRT17
12 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.5 KRT17
13 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.5 KRT17
14 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.5 KRT17
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.5 KRT17

MGI Mouse Phenotypes related to Pili Torti, Early-Onset:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 CP KRT17

Drugs & Therapeutics for Pili Torti, Early-Onset

Search Clinical Trials, NIH Clinical Center for Pili Torti, Early-Onset

Genetic Tests for Pili Torti, Early-Onset

Anatomical Context for Pili Torti, Early-Onset

Organs/tissues related to Pili Torti, Early-Onset:

MalaCards : Skin, Tongue, Eye

Publications for Pili Torti, Early-Onset

Articles related to Pili Torti, Early-Onset:

(show top 50) (show all 191)
# Title Authors PMID Year
1
Picture of the month. Pili torti. 62 57
10357309 1999
2
An update of hair shaft disorders. 57
9238334 1996
3
[Neonatal onset of Menkes disease: diagnosis interest of cupremia and microscopic examination of the hairs]. 53 62
17651950 2007
4
In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide-directed gene targeting. 53 62
14714564 2003
5
Keratin 17 expression in the hard epithelial context of the hair and nail, and its relevance for the pachyonychia congenita phenotype. 53 62
10844551 2000
6
Menkes' disease: report of a case and determination of eumelanin and pheomelanin in hypopigmented hair. 53 62
1638075 1992
7
Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome. 62
35960161 2022
8
Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease. 62
35118132 2022
9
The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series. 62
32244022 2021
10
Pili Torti: A Feature of Numerous Congenital and Acquired Conditions. 62
34501349 2021
11
Tuning the reversibility of hair artificial muscles by disulfide cross-linking for sensors, switches, and soft robotics. 62
34846462 2021
12
Single hair fiber assessment techniques to discriminate between mineral oil and coconut oil effect on hair physical properties. 62
32949101 2021
13
Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature. 62
33085121 2021
14
Cutaneous T-cell lymphoma in erythrodermic cases may be suspected on the basis of scalp examination with dermoscopy. 62
33431905 2021
15
A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report. 62
33126389 2020
16
Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma. 62
32220018 2020
17
Scanning Electron Microscopy of Subclinical Gefitinib-Induced Hair Changes. 62
33223740 2020
18
Scanning Electron Microscopy of Erlotinib-induced Hair Changes: Pili Torti et Canaliculi. 62
32030058 2019
19
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. 62
31435670 2019
20
Pili Torti as a Sign of Eyebrow Involvement in Frontal Fibrosing Alopecia. 62
31799271 2019
21
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. 62
31125343 2019
22
Acquired Pili Torti. 62
30810707 2019
23
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships. 62
30582773 2019
24
Trichoscopy in Hair Shaft Disorders. 62
30201151 2018
25
Pili torti, bleiche und elastische Haut sowie eine schwere neurologische Beeinträchtigung. 62
29537163 2018
26
Pili torti, pale and elastic skin, and severe neurological impairment. 62
29288599 2018
27
A Point to Note in Pili Torti. 62
29769787 2018
28
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. 62
29265343 2018
29
Long-standing pili torti in 2 patients with chronic graft-vs-host disease. 62
29296651 2018
30
Trichoscopic Features of Linear Morphea on the Scalp. 62
29457011 2018
31
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. 62
28322498 2017
32
Morphological analyses in fragility of pili torti with Björnstad syndrome. 62
27882597 2017
33
Loose Anchoring of Anagen Hairs and Pili Torti due to Erlotinib. 62
28442878 2016
34
Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II. 62
27293153 2016
35
Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I. 62
27292719 2016
36
Iliac Artery Aneurysms in Menkes Disease: A Case Report. 62
29906074 2016
37
The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition. 62
27190931 2016
38
Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis. 62
26269244 2016
39
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). 62
26858134 2016
40
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. 62
30226971 2016
41
Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia. 62
25935816 2015
42
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 62
25895478 2015
43
Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. 62
25913853 2015
44
Skin features in myotonic dystrophy type 1: an observational study. 62
25813338 2015
45
Steatocystoma multiplex with hair shaft abnormalities. 62
25808203 2015
46
Clinical presentation of pili torti--Case report. 62
26312667 2015
47
Menkes disease in affected females: the clinical disease spectrum. 62
25428120 2015
48
Marie-unna hereditary hypotrichosis. 62
25368478 2014
49
Hair curvature: a natural dialectic and review. 62
24617997 2014
50
Alopecia in genetic diseases. 62
24566562 2014

Variations for Pili Torti, Early-Onset

Expression for Pili Torti, Early-Onset

Search GEO for disease gene expression data for Pili Torti, Early-Onset.

Pathways for Pili Torti, Early-Onset

GO Terms for Pili Torti, Early-Onset

Sources for Pili Torti, Early-Onset

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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