MCID: PLT022
MIFTS: 23

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 58
Twisted Hair 58 60
Pili Torti, Ronchese Type 58
Pili Torti 60

Characteristics:

Orphanet epidemiological data:

60
pili torti
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant
isolated cases

Miscellaneous:
onset in early childhood
hair may normalize at puberty


HPO:

33

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 261900
ICD10 via Orphanet 35 Q84.1
UMLS via Orphanet 75 C0263491
Orphanet 60 ORPHA2889
MedGen 43 C0263491

Summaries for Pili Torti, Early-Onset

OMIM : 58 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 pili torti and developmental delay. Affiliated tissues include skin, and related phenotypes are pili torti and brittle hair

Related Diseases for Pili Torti, Early-Onset

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:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pili torti 60 33 Very frequent (99-80%) HP:0003777
2 brittle hair 60 33 Frequent (79-30%) HP:0002299
3 hearing impairment 60 Occasional (29-5%)
4 abnormality of the dentition 60 Frequent (79-30%)
5 coarse hair 33 HP:0002208
6 abnormality of the nail 60 Frequent (79-30%)
7 alopecia 60 Frequent (79-30%)
8 abnormality of the eyebrow 60 Frequent (79-30%)
9 abnormality of dental enamel 60 Frequent (79-30%)
10 hypoplasia of dental enamel 33 HP:0006297
11 abnormality of hair texture 60 Very frequent (99-80%)
12 dry hair 33 HP:0011359
13 hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes 33 HP:0003329

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin

Publications for Pili Torti, Early-Onset

Articles related to Pili Torti, Early-Onset:

# Title Authors Year
1
Low prevalence of twisted hair in anorexia nervosa. ( 15953065 )
2005
2
Tensile properties of twisted hair fibers. ( 15645104 )
2004

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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