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MCID: PLT022
MIFTS: 33
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Pili Torti, Early-Onset
Categories:
Rare diseases, Skin diseases
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MalaCards integrated aliases for Pili Torti, Early-Onset:
Name: Pili Torti, Early-Onset
57
Characteristics:Inheritance:
Pili Torti, Early-Onset:
Autosomal dominant 57
Pili Torti:
Autosomal recessive 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in early childhood hair may normalize at puberty Classifications:
ICD10:
32
Orphanet: 58
Rare skin diseases |
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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 08-Dec-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... |
Human phenotypes related to Pili Torti, Early-Onset:58 30 (show all 14)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:261900 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Pili Torti, Early-Onset according to GeneCards Suite gene sharing:25 (show all 15)
MGI Mouse Phenotypes related to Pili Torti, Early-Onset:45
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Organs/tissues related to Pili Torti, Early-Onset:
MalaCards :
Skin,
Tongue,
Eye
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Articles related to Pili Torti, Early-Onset:(show top 50) (show all 191)
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Genes related to Pili Torti, Early-Onset (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Pili Torti, Early-Onset.
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