MCID: PLD002
MIFTS: 19

Pilodental Dysplasia with Refractive Errors

Categories: Fetal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pilodental Dysplasia with Refractive Errors

MalaCards integrated aliases for Pilodental Dysplasia with Refractive Errors:

Name: Pilodental Dysplasia with Refractive Errors 56 52
Trichodental Dysplasia with Hyperopia 56 52
Euhidrotic Ectodermal Dysplasia 58 71
Pilodental Dysplasia-Refractive Errors Syndrome 58
Kopysc-Barczyk-Krol Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
pilodental dysplasia-refractive errors syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
pilodental dysplasia with refractive errors:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM 56 262020
UMLS via Orphanet 72 C1849805
Orphanet 58 ORPHA2892
MedGen 41 C1849805
UMLS 71 C1849805

Summaries for Pilodental Dysplasia with Refractive Errors

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2892 Definition Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. Visit the Orphanet disease page for more resources.

MalaCards based summary : Pilodental Dysplasia with Refractive Errors, also known as trichodental dysplasia with hyperopia, is related to dowling-degos disease 1 and ringed hair. Affiliated tissues include skin, and related phenotypes are wide nasal bridge and abnormality of the nail

More information from OMIM: 262020

Related Diseases for Pilodental Dysplasia with Refractive Errors

Diseases related to Pilodental Dysplasia with Refractive Errors via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dowling-degos disease 1 10.3
2 ringed hair 10.3
3 astigmatism 10.3
4 keratosis 10.3
5 ectodermal dysplasia 10.3
6 hypotrichosis 10.3
7 refractive error 10.3

Graphical network of the top 20 diseases related to Pilodental Dysplasia with Refractive Errors:



Diseases related to Pilodental Dysplasia with Refractive Errors

Symptoms & Phenotypes for Pilodental Dysplasia with Refractive Errors

Human phenotypes related to Pilodental Dysplasia with Refractive Errors:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 wide nasal bridge 31 HP:0000431
2 abnormality of the nail 31 HP:0001597
3 sparse scalp hair 31 HP:0002209
4 hypodontia 31 HP:0000668
5 conical incisor 31 HP:0011065
6 follicular hyperkeratosis 31 HP:0007502
7 brittle hair 31 HP:0002299
8 ectodermal dysplasia 31 HP:0000968
9 hypermetropia 31 HP:0000540
10 reticular hyperpigmentation 31 HP:0007588
11 brittle scalp hair 31 HP:0004779

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Teeth:
hypodontia
abnormally shaped teeth
conical crown form

Head And Neck Eyes:
hyperopia

Skin Nails Hair Skin:
normal sweating
follicular hyperkeratosis (trunk and limbs)
reticular hyperpigmentation (neck)

Head And Neck Nose:
broad nasal bridge

Skin Nails Hair Nails:
normal nails

Skin Nails Hair Hair:
sparse, thin, brittle scalp hair
pili annulati

Clinical features from OMIM:

262020

Drugs & Therapeutics for Pilodental Dysplasia with Refractive Errors

Search Clinical Trials , NIH Clinical Center for Pilodental Dysplasia with Refractive Errors

Genetic Tests for Pilodental Dysplasia with Refractive Errors

Anatomical Context for Pilodental Dysplasia with Refractive Errors

MalaCards organs/tissues related to Pilodental Dysplasia with Refractive Errors:

40
Skin

Publications for Pilodental Dysplasia with Refractive Errors

Articles related to Pilodental Dysplasia with Refractive Errors:

# Title Authors PMID Year
1
A new syndrome in the group of euhidrotic ectodermal dysplasia. Pilodental dysplasia with refractive errors. 61 56
4018802 1985

Variations for Pilodental Dysplasia with Refractive Errors

Expression for Pilodental Dysplasia with Refractive Errors

Search GEO for disease gene expression data for Pilodental Dysplasia with Refractive Errors.

Pathways for Pilodental Dysplasia with Refractive Errors

GO Terms for Pilodental Dysplasia with Refractive Errors

Sources for Pilodental Dysplasia with Refractive Errors

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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