MCID: PLT010
MIFTS: 15

Pili Torti Onychodysplasia

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Pili Torti Onychodysplasia

MalaCards integrated aliases for Pili Torti Onychodysplasia:

Name: Pili Torti Onychodysplasia 19 71
Pili Torti-Onychodysplasia Syndrome 58
Twisted Hair with Nail Dysplasias 19

Characteristics:


Inheritance:

Pili Torti-Onychodysplasia Syndrome: Autosomal recessive 58

Prevelance:

Pili Torti-Onychodysplasia Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Pili Torti-Onychodysplasia Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C537399
UMLS via Orphanet 72 C2931483
Orphanet 58 ORPHA2890
UMLS 71 C2931483

Summaries for Pili Torti Onychodysplasia

GARD: 19 A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.

MalaCards based summary: Pili Torti Onychodysplasia, is also known as pili torti-onychodysplasia syndrome. Affiliated tissues include skin, and related phenotypes are ectodermal dysplasia and palmoplantar keratoderma

Orphanet: 58 A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.

Related Diseases for Pili Torti Onychodysplasia

Symptoms & Phenotypes for Pili Torti Onychodysplasia

Human phenotypes related to Pili Torti Onychodysplasia:

58 30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ectodermal dysplasia 58 30 Obligate (100%) Obligate (100%)
HP:0000968
2 palmoplantar keratoderma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000982
3 cleft palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000175
4 dry skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000958
5 eczema 58 30 Frequent (33%) Frequent (79-30%)
HP:0000964
6 keloids 58 30 Frequent (33%) Frequent (79-30%)
HP:0010562
7 absent eyelashes 58 30 Frequent (33%) Frequent (79-30%)
HP:0000561
8 nail dystrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008404
9 absent eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0002223
10 alopecia universalis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002289
11 brittle hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002299
12 trichodysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002552
13 cleft lip 58 30 Frequent (33%) Frequent (79-30%)
HP:0410030
14 cutaneous syndactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0012725
15 congenital onychodystrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008394
16 generalized keratosis follicularis 58 30 Frequent (33%) Frequent (79-30%)
HP:0007439
17 conjunctival hyperemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0030953
18 abnormal pinna morphology 30 Frequent (33%) HP:0000377
19 sparse body hair 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002231
20 alopecia 58 Frequent (79-30%)
21 abnormality of the pinna 58 Frequent (79-30%)

Drugs & Therapeutics for Pili Torti Onychodysplasia

Search Clinical Trials, NIH Clinical Center for Pili Torti Onychodysplasia

Genetic Tests for Pili Torti Onychodysplasia

Anatomical Context for Pili Torti Onychodysplasia

Organs/tissues related to Pili Torti Onychodysplasia:

MalaCards : Skin

Publications for Pili Torti Onychodysplasia

Variations for Pili Torti Onychodysplasia

Expression for Pili Torti Onychodysplasia

Search GEO for disease gene expression data for Pili Torti Onychodysplasia.

Pathways for Pili Torti Onychodysplasia

GO Terms for Pili Torti Onychodysplasia

Sources for Pili Torti Onychodysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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