Pili Torti, Early-Onset disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

pili torti, early-onset:
Inheritance autosomal dominant inheritance autosomal recessive inheritance sporadic

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases Neuronal diseases Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of integument

Congenital morphological disturbances of hair, not elsewhere classified

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

SNOMED-CT via HPO ⁶⁸ 17170005 25159003 258211005 more

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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

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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
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:

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Symptoms & Phenotypes for Pili Torti, Early-Onset

Human phenotypes related to Pili Torti, Early-Onset:

⁵⁸ ³¹ (show all 13)

#	Description	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

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Drugs & Therapeutics for Pili Torti, Early-Onset

Search Clinical Trials , NIH Clinical Center for Pili Torti, Early-Onset

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Genetic Tests for Pili Torti, Early-Onset

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Anatomical Context for Pili Torti, Early-Onset

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

⁴⁰

Skin

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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	Gelles LN	10357309	1999
2	An update of hair shaft disorders. ⁵⁶	Dawber RP	9238334	1996
3	Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis. ⁶¹	Zhong Z...Chen J	26269244	2016
4	A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. ⁶¹	Akduman H...Arsan S	30226971	2016
5	Clinical presentation of pili torti--Case report. ⁶¹	Yang JJ...Pegas JR	26312667	2015
6	Skin features in myotonic dystrophy type 1: an observational study. ⁶¹	Campanati A...Offidani A	25813338	2015
7	Marie-unna hereditary hypotrichosis. ⁶¹	Srinivas SM...Hiremagalore R	25368478	2014
8	Hair curvature: a natural dialectic and review. ⁶¹	Nissimov JN...Das Chaudhuri AB	24617997	2014
9	Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. ⁶¹	Zhang X...Zhang XJ	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	Farkas K...Szell M	22584530	2012
11	Effects of IGF-binding protein 5 in dysregulating the shape of human hair. ⁶¹	Sriwiriyanont P...Kobinger GP	20944648	2011
12	Syndromic (phenotypic) diarrhea in early infancy. ⁶¹	Goulet O...Cezard JP	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	Yang S...Zhang XJ	16185270	2005
14	Clinical and pathological features of pachyonychia congenita. ⁶¹	Leachman SA...Lane EB	16250204	2005
15	Low prevalence of twisted hair in anorexia nervosa. ⁶¹	Strumia R...Gualandi M	15953065	2005
16	Circumscribed scalp hair loss following multiple hair-cutter ant invasion. ⁶¹	Aghaei S...Sodaifi M	15530304	2004
17	Tensile properties of twisted hair fibers. ⁶¹	Dankovich TA...Ruetsch S	15645104	2004
18	In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide-directed gene targeting. ⁶¹	Fan W...Yoon K	14714564	2003
19	Hair bundle motility induced by chemoreceptors in anemones. ⁶¹	Mire P...Nasse J	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	McGowan KM...Coulombe PA	10844551	2000
21	Björnstad syndrome in a patient with mental retardation. ⁶¹	Van Buggenhout G...Fryns JP	9777342	1998
22	[X-linked dominant chondrodysplasia punctata (author's transl)]. ⁶¹	Happle R	7366591	1980
23	[True twisted hair (Galewsky-Ronchese) with involvement of eyebrows and lanugo]. ⁶¹	Zaun H...Burg G	5309394	1969

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Genes for Pili Torti, Early-Onset

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Variations for Pili Torti, Early-Onset

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Expression for Pili Torti, Early-Onset

Search GEO for disease gene expression data for Pili Torti, Early-Onset.

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Pathways for Pili Torti, Early-Onset

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GO Terms for Pili Torti, Early-Onset

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