MCID: PLT008
MIFTS: 29

Pili Torti

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Pili Torti

MalaCards integrated aliases for Pili Torti:

Name: Pili Torti 53 29 55
Coarse, Dry, Lusterless Hair Which Breaks off Easily 53
Twisted Hair 53

Classifications:



Summaries for Pili Torti

NIH Rare Diseases : 53 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 pili torti, early-onset and pili torti developmental delay neurological abnormalities. An important gene associated with Pili Torti is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone). Affiliated tissues include skin, and related phenotypes are hearing impairment and abnormal eyebrow morphology

Wikipedia : 76 Pili torti (also known as \"Twisted hairs\") is characterized by short and brittle hairs that appear... more...

Related Diseases for Pili Torti

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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 occasional (7.5%) HP:0000365
2 abnormal eyebrow morphology 32 frequent (33%) HP:0000534
3 abnormality of dental enamel 32 frequent (33%) HP:0000682
4 alopecia 32 frequent (33%) HP:0001596
5 abnormality of the nail 32 frequent (33%) HP:0001597
6 brittle hair 32 frequent (33%) HP:0002299
7 pili torti 32 hallmark (90%) HP:0003777

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

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10 CP BCS1L
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 10 CP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10 BCS1L
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10 CP
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10 BCS1L
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10 BCS1L
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10 BCS1L CP
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10 BCS1L
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10 CP
10 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.8 CP
11 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.8 KRT17
12 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.8 BCS1L
13 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.8 CP BCS1L
14 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.8 CP
15 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.8 BCS1L
16 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.8 KRT17
17 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.8 CP
18 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.8 KRT17
19 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.8 KRT17
20 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.8 KRT17
21 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.8 CP KRT17
22 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.8 KRT17
23 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.8 KRT17
24 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.8 KRT17
25 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.8 KRT17
26 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.8 KRT17
27 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.8 BCS1L
28 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.8 BCS1L
29 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.8 CP
30 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.8 CP

MGI Mouse Phenotypes related to Pili Torti:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 CP KRT17

Drugs & Therapeutics for Pili Torti

Search Clinical Trials , NIH Clinical Center for Pili Torti

Genetic Tests for Pili Torti

Genetic tests related to Pili Torti:

# Genetic test Affiliating Genes
1 Pili Torti 29

Anatomical Context for Pili Torti

MalaCards organs/tissues related to Pili Torti:

41
Skin

Publications for Pili Torti

Articles related to Pili Torti:

(show all 49)
# Title Authors Year
1
Long-standing pili torti in 2 patients with chronic graft-vs-host disease. ( 29296651 )
2018
2
A Point to Note in Pili Torti. ( 29769787 )
2018
3
Pili torti, bleiche und elastische Haut sowie eine schwere neurologische BeeintrAochtigung. ( 29537163 )
2018
4
Pili torti, pale and elastic skin, and severe neurological impairment. ( 29288599 )
2017
5
Morphological analyses in fragility of pili torti with BjAPrnstad syndrome. ( 27882597 )
2016
6
Loose Anchoring of Anagen Hairs and Pili Torti due to Erlotinib. ( 28442878 )
2016
7
Clinical presentation of pili torti - Case report. ( 26312667 )
2015
8
Netherton syndrome with pili torti. ( 24778540 )
2013
9
A case of pili torti in a young adult domestic short-haired cat. ( 23384010 )
2013
10
SchAPpf-Schulz-Passarge syndrome with pili torti: A new association? ( 19527991 )
2009
11
Pili torti: clinical findings, associated disorders, and new insights into mechanisms of hair twisting. ( 19842574 )
2009
12
Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. ( 11807445 )
2002
13
Ultrastructural study of acquired pili torti-like hair defects accompanying pseudopelade. ( 12027083 )
2002
14
Pili torti and sensorineural hearing loss. A follow-up of BjA,rnstad's original patients and a review of the literature. ( 10694305 )
2000
15
Pili torti et canaliculi and agenesis of the teeth: report of a new &amp;quot;pure&amp;quot; hair-tooth ectodermal dysplasia in a Norwegian family. ( 11182937 )
2000
16
Pili torti with congenital deafness (Bjornstad syndrome): a case report. ( 10383781 )
1999
17
Picture of the month. Pili torti. ( 10357309 )
1999
18
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. ( 9545407 )
1998
19
Acquired pili torti--a structural hair shaft defect in anorexia nervosa. ( 8882012 )
1996
20
Pathogenesis in pili torti: morphological study. ( 7528051 )
1994
21
Pili torti with congenital deafness (Bjornstad's syndrome)--report of three cases in one family, suggesting autosomal dominant transmission. ( 8440069 )
1993
22
Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities. ( 1379303 )
1992
23
Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia. ( 1879585 )
1991
24
The natural history of 'dystrophic' pili torti. ( 2923803 )
1989
25
A child with hair loss. Pili torti, apparently unassociated with other abnormalities. ( 3631987 )
1987
26
Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? ( 3035184 )
1987
27
Pili torti and hirsuties: are twisted hairs a normal variant? ( 2449003 )
1987
28
Association of pili torti and leukonychia. ( 4017647 )
1985
29
Pili torti in association with citrullinemia. ( 3973120 )
1985
30
Acquired pili torti in two patients treated with synthetic retinoids. ( 3859397 )
1985
31
BjAPrnstad syndrome and pili torti. ( 6679889 )
1983
32
Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome. ( 7116674 )
1982
33
A case of hyperkeratosis palmoplantaris striata combined with pili torti, hypohidrosis, hypodontia and hypacusis. ( 6217715 )
1982
34
Arginosuccinic aciduria with pili torti. ( 7205861 )
1981
35
Sensorineural hearing loss and pili torti. ( 426441 )
1979
36
Pili torti with deafness (BjA,rnstad syndrome). Report of a family. ( 478043 )
1979
37
Pili torti as marker for carriers of Menkes disease. ( 76144 )
1978
38
A sporadic case of dystrophic pili torti. ( 843455 )
1977
39
Weathering of hair in monilethrix and pili torti. ( 923155 )
1977
40
Pili torti-congenital and acquired. ( 4127474 )
1973
41
A case of pili torti. ( 5800938 )
1969
42
Pili torti and sensory neural hearing loss. ( 6019757 )
1967
43
Black piedra in a child with pili torti, bamboo hair and congenital ichthyosiform erythroderma. ( 13767211 )
1961
44
Twisted hairs (pili torti); a pediatric entity. ( 13532154 )
1958
45
Reconstruction of eyebrows in case of pili torti. ( 13335520 )
1956
46
Congenital pilar defect showing features of pili torti. ( 13019001 )
1953
47
Localized Pili Torti. ( 19993732 )
1950
48
Pili Torti. ( 19993587 )
1947
49
Case of Pili Torti. ( 19992778 )
1944

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

Sources for Pili Torti

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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