MCID: PLT008
MIFTS: 30

Pili Torti

Categories: Neuronal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pili Torti

MalaCards integrated aliases for Pili Torti:

Name: Pili Torti 20 54
Coarse, Dry, Lusterless Hair Which Breaks off Easily 20
Twisted Hair 20

Classifications:



Summaries for Pili Torti

GARD : 20 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. Acquired cases of pili torti may be associated with anorexia nervosa, malnutrition, oral retinoid treatment, or inflammatory scalp conditions (e.g., cutaneous lupus erythematousus ). 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. There is no specific treatment for this condition, but it may improve spontaneously after puberty. Click here to visit Medscape and view an image of a child with pili torti.

MalaCards based summary : Pili Torti, also known as coarse, dry, lusterless hair which breaks off easily, is related to bjornstad syndrome and abnormal hair, joint laxity, and developmental delay. An important gene associated with Pili Torti is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone). Affiliated tissues include eye and tongue, and related phenotypes are pili torti and abnormality of the nail

Wikipedia : 73 Pili torti (also known as "Twisted hairs") is characterized by short and brittle hairs that appear... more...

Related Diseases for Pili Torti

Diseases in the Pili Torti family:

Pili Torti, Early-Onset

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 bjornstad syndrome 12.0
2 abnormal hair, joint laxity, and developmental delay 11.8
3 pili torti developmental delay neurological abnormalities 11.7
4 pili torti, early-onset 11.7
5 cleft lip/palate-ectodermal dysplasia syndrome 11.7
6 pili torti onychodysplasia 11.5
7 crandall syndrome 11.3
8 cleft lip palate oligodontia syndactyly pili torti 11.2
9 acrofacial dysostosis, palagonia type 11.2
10 acrofacial dysostosis, patagonia type 11.2
11 trueb burg bottani syndrome 11.2
12 hypotrichosis 4 11.0
13 branchiootic syndrome 1 10.5
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
15 alopecia 10.5
16 sensorineural hearing loss 10.4
17 ectodermal dysplasia 10.4
18 chromosome 2q35 duplication syndrome 10.2
19 menkes disease 10.2
20 superficial mycosis 10.2
21 anhidrosis 10.2
22 black piedra 10.2
23 keratosis 10.2
24 hypotrichosis 10.2
25 cleft lip 10.2
26 alopecia areata 10.2
27 cleft lip/palate 10.2
28 alopecia, androgenetic, 1 10.1
29 epidermolytic hyperkeratosis 10.1
30 cleft palate, isolated 10.1
31 rapp-hodgkin syndrome 10.1
32 clouston syndrome 10.1
33 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.1
34 ichthyosis vulgaris 10.1
35 monilethrix 10.1
36 split-hand/foot malformation 1 10.1
37 citrullinemia, classic 10.1
38 netherton syndrome 10.1
39 taurodontism 10.1
40 ectodermal dysplasia 4, hair/nail type 10.1
41 anorexia nervosa 10.1
42 autosomal recessive disease 10.1
43 androgenic alopecia 10.1
44 diffuse alopecia areata 10.1
45 paronychia 10.1
46 ehlers-danlos syndrome 10.1
47 ichthyosis 10.1
48 hypogonadism 10.1
49 palmoplantar keratosis 10.1
50 hair disease 10.1

Graphical network of the top 20 diseases related to Pili Torti:



Diseases related to Pili Torti

Symptoms & Phenotypes for Pili Torti

Human phenotypes related to Pili Torti:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 pili torti 31 hallmark (90%) HP:0003777
2 abnormality of the nail 31 frequent (33%) HP:0001597
3 alopecia 31 frequent (33%) HP:0001596
4 abnormality of dental enamel 31 frequent (33%) HP:0000682
5 brittle hair 31 frequent (33%) HP:0002299
6 abnormal eyebrow morphology 31 frequent (33%) HP:0000534
7 hearing impairment 31 occasional (7.5%) HP:0000365

GenomeRNAi Phenotypes related to Pili Torti according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.75 CP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.75 BCS1L
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.75 BCS1L CP
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.75 CP
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.75 CP
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.75 KRT17
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 9.75 KRT17
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.75 BCS1L
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.75 CP
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.75 BCS1L
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.75 BCS1L CP
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.75 BCS1L
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.75 BCS1L
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.75 CP
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.75 CP
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.75 CP

MGI Mouse Phenotypes related to Pili Torti:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.26 BCS1L CP HEPHL1 KRT17
2 pigmentation MP:0001186 8.8 CP HEPHL1 KRT17

Drugs & Therapeutics for Pili Torti

Search Clinical Trials , NIH Clinical Center for Pili Torti

Genetic Tests for Pili Torti

Anatomical Context for Pili Torti

MalaCards organs/tissues related to Pili Torti:

40
Eye, Tongue

Publications for Pili Torti

Articles related to Pili Torti:

(show top 50) (show all 186)
# Title Authors PMID Year
1
[Neonatal onset of Menkes disease: diagnosis interest of cupremia and microscopic examination of the hairs]. 54 61
17651950 2007
2
In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide-directed gene targeting. 61 54
14714564 2003
3
Keratin 17 expression in the hard epithelial context of the hair and nail, and its relevance for the pachyonychia congenita phenotype. 54 61
10844551 2000
4
Menkes' disease: report of a case and determination of eumelanin and pheomelanin in hypopigmented hair. 61 54
1638075 1992
5
Single hair fiber assessment techniques to discriminate between mineral oil and coconut oil effect on hair physical properties. 61
32949101 2021
6
Cutaneous T-cell lymphoma in erythrodermic cases may be suspected on the basis of scalp examination with dermoscopy. 61
33431905 2021
7
Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature. 61
33085121 2020
8
A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report. 61
33126389 2020
9
Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma. 61
32220018 2020
10
Scanning Electron Microscopy of Subclinical Gefitinib-Induced Hair Changes. 61
33223740 2020
11
The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series. 61
32244022 2020
12
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. 61
31435670 2019
13
Scanning Electron Microscopy of Erlotinib-induced Hair Changes: Pili Torti et Canaliculi. 61
32030058 2019
14
Pili Torti as a Sign of Eyebrow Involvement in Frontal Fibrosing Alopecia. 61
31799271 2019
15
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. 61
31125343 2019
16
Acquired Pili Torti. 61
30810707 2019
17
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships. 61
30582773 2019
18
Trichoscopy in Hair Shaft Disorders. 61
30201151 2018
19
Pili torti, pale and elastic skin, and severe neurological impairment. 61
29288599 2018
20
Pili torti, bleiche und elastische Haut sowie eine schwere neurologische Beeinträchtigung. 61
29537163 2018
21
A Point to Note in Pili Torti. 61
29769787 2018
22
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. 61
29265343 2018
23
Long-standing pili torti in 2 patients with chronic graft-vs-host disease. 61
29296651 2018
24
Trichoscopic Features of Linear Morphea on the Scalp. 61
29457011 2018
25
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. 61
28322498 2017
26
Morphological analyses in fragility of pili torti with Björnstad syndrome. 61
27882597 2017
27
Loose Anchoring of Anagen Hairs and Pili Torti due to Erlotinib. 61
28442878 2016
28
Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I. 61
27292719 2016
29
Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II. 61
27293153 2016
30
Iliac Artery Aneurysms in Menkes Disease: A Case Report. 61
29906074 2016
31
The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition. 61
27190931 2016
32
Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis. 61
26269244 2016
33
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). 61
26858134 2016
34
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. 61
30226971 2016
35
Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia. 61
25935816 2015
36
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 61
25895478 2015
37
Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. 61
25913853 2015
38
Steatocystoma multiplex with hair shaft abnormalities. 61
25808203 2015
39
Skin features in myotonic dystrophy type 1: an observational study. 61
25813338 2015
40
Clinical presentation of pili torti--Case report. 61
26312667 2015
41
Menkes disease in affected females: the clinical disease spectrum. 61
25428120 2015
42
Marie-unna hereditary hypotrichosis. 61
25368478 2014
43
Hair curvature: a natural dialectic and review. 61
24617997 2014
44
Alopecia in genetic diseases. 61
24566562 2014
45
Light microscopic hair abnormalities in children: retrospective review of 119 cases in a 10-year period. 61
24251687 2014
46
Netherton syndrome with pili torti. 61
24778540 2013
47
Electro-clinical features and magnetic resonance imaging correlates in Menkes disease. 61
22921468 2013
48
A case of pili torti in a young adult domestic short-haired cat. 61
23384010 2013
49
Dermoscopy for the pediatric dermatologist part I: dermoscopy of pediatric infectious and inflammatory skin lesions and hair disorders. 61
23405886 2013
50
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. 61
23099647 2012

Variations for Pili Torti

Expression for Pili Torti

Search GEO for disease gene expression data for Pili Torti.

Pathways for Pili Torti

GO Terms for Pili Torti

Biological processes related to Pili Torti according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 9.26 HEPHL1 CP
2 iron ion homeostasis GO:0055072 9.16 HEPHL1 CP
3 iron ion transport GO:0006826 8.96 HEPHL1 CP
4 copper ion transport GO:0006825 8.62 HEPHL1 CP

Molecular functions related to Pili Torti according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 HEPHL1 CP
2 ferroxidase activity GO:0004322 8.62 HEPHL1 CP

Sources for Pili Torti

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....