MCID: PLT022
MIFTS: 24

Pili Torti, Early-Onset

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

Aliases & Classifications for Pili Torti, Early-Onset

MalaCards integrated aliases for Pili Torti, Early-Onset:

Name: Pili Torti, Early-Onset 56
Twisted Hair 56 58
Pili Torti, Ronchese Type 56
Pili Torti 58

Characteristics:

Orphanet epidemiological data:

58
pili torti
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant
isolated cases

Miscellaneous:
onset in early childhood
hair may normalize at puberty


HPO:

31

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 261900
ICD10 via Orphanet 33 Q84.1
UMLS via Orphanet 72 C0263491
Orphanet 58 ORPHA2889
MedGen 41 C0263491

Summaries for Pili Torti, Early-Onset

OMIM : 56 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)

MalaCards based summary : Pili Torti, Early-Onset, also known as twisted hair, is related to pili torti developmental delay neurological abnormalities and cleft lip palate oligodontia syndactyly pili torti. Affiliated tissues include skin, and related phenotypes are pili torti and brittle hair

Related Diseases for Pili Torti, Early-Onset

Diseases in the Pili Torti family:

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 56)
# Related Disease Score Top Affiliating Genes
1 pili torti developmental delay neurological abnormalities 12.8
2 cleft lip palate oligodontia syndactyly pili torti 12.5
3 abnormal hair, joint laxity, and developmental delay 12.5
4 pili torti 12.1
5 crandall syndrome 11.6
6 acrofacial dysostosis, palagonia type 11.5
7 acrofacial dysostosis, patagonia type 11.5
8 pili torti onychodysplasia 11.4
9 bjornstad syndrome 11.4
10 hypotrichosis 4 11.2
11 cleft lip/palate-ectodermal dysplasia syndrome 11.2
12 branchiootic syndrome 1 10.7
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
14 alopecia 10.6
15 sensorineural hearing loss 10.6
16 ectodermal dysplasia 10.6
17 chromosome 2q35 duplication syndrome 10.4
18 menkes disease 10.4
19 superficial mycosis 10.4
20 anhidrosis 10.4
21 black piedra 10.4
22 keratosis 10.4
23 hypotrichosis 10.4
24 cleft lip 10.4
25 alopecia areata 10.4
26 cleft lip/palate 10.4
27 alopecia, androgenetic, 1 10.2
28 epidermolytic hyperkeratosis 10.2
29 cleft palate, isolated 10.2
30 rapp-hodgkin syndrome 10.2
31 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.2
32 ichthyosis vulgaris 10.2
33 monilethrix 10.2
34 split-hand/foot malformation 1 10.2
35 citrullinemia, classic 10.2
36 netherton syndrome 10.2
37 ectodermal dysplasia 4, hair/nail type 10.2
38 autosomal recessive disease 10.2
39 androgenic alopecia 10.2
40 diffuse alopecia areata 10.2
41 paronychia 10.2
42 ehlers-danlos syndrome 10.2
43 ichthyosis 10.2
44 hypogonadism 10.2
45 dermatitis 10.2
46 hair disease 10.2
47 hypogonadotropism 10.2
48 hidrotic ectodermal dysplasia 2 10.2
49 frontal fibrosing alopecia 10.2
50 homologous wasting disease 10.2

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 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pili torti 58 31 Very frequent (99-80%) HP:0003777
2 brittle hair 58 31 Frequent (79-30%) HP:0002299
3 hearing impairment 58 Occasional (29-5%)
4 abnormality of the dentition 58 Frequent (79-30%)
5 alopecia 58 Frequent (79-30%)
6 coarse hair 31 HP:0002208
7 abnormality of the nail 58 Frequent (79-30%)
8 abnormality of the eyebrow 58 Frequent (79-30%)
9 abnormality of dental enamel 58 Frequent (79-30%)
10 hypoplasia of dental enamel 31 HP:0006297
11 abnormality of hair texture 58 Very frequent (99-80%)
12 dry hair 31 HP:0011359
13 hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes 31 HP:0003329

Symptoms via clinical synopsis from OMIM:

56
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

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

MalaCards organs/tissues related to Pili Torti, Early-Onset:

40
Skin

Publications for Pili Torti, Early-Onset

Articles related to Pili Torti, Early-Onset:

(show all 23)
# Title Authors PMID Year
1
Picture of the month. Pili torti. 56
10357309 1999
2
An update of hair shaft disorders. 56
9238334 1996
3
Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis. 61
26269244 2016
4
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. 61
30226971 2016
5
Clinical presentation of pili torti--Case report. 61
26312667 2015
6
Skin features in myotonic dystrophy type 1: an observational study. 61
25813338 2015
7
Marie-unna hereditary hypotrichosis. 61
25368478 2014
8
Hair curvature: a natural dialectic and review. 61
24617997 2014
9
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. 61
23099647 2012
10
A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities. 61
22584530 2012
11
Effects of IGF-binding protein 5 in dysregulating the shape of human hair. 61
20944648 2011
12
Syndromic (phenotypic) diarrhea in early infancy. 61
18304370 2008
13
Identification of a novel locus for Marie Unna hereditary hypotrichosis to a 17.5 cM interval at 1p21.1-1q21.3. 61
16185270 2005
14
Clinical and pathological features of pachyonychia congenita. 61
16250204 2005
15
Low prevalence of twisted hair in anorexia nervosa. 61
15953065 2005
16
Circumscribed scalp hair loss following multiple hair-cutter ant invasion. 61
15530304 2004
17
Tensile properties of twisted hair fibers. 61
15645104 2004
18
In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide-directed gene targeting. 61
14714564 2003
19
Hair bundle motility induced by chemoreceptors in anemones. 61
11788205 2002
20
Keratin 17 expression in the hard epithelial context of the hair and nail, and its relevance for the pachyonychia congenita phenotype. 61
10844551 2000
21
Björnstad syndrome in a patient with mental retardation. 61
9777342 1998
22
[X-linked dominant chondrodysplasia punctata (author's transl)]. 61
7366591 1980
23
[True twisted hair (Galewsky-Ronchese) with involvement of eyebrows and lanugo]. 61
5309394 1969

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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