OTD
MCID: OCL057
MIFTS: 20

Oculotrichodysplasia (OTD)

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Oculotrichodysplasia

MalaCards integrated aliases for Oculotrichodysplasia:

Name: Oculotrichodysplasia 57 58 71
Cecato De Lima-Pinheiro Syndrome 58
Otd 57

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood 58

Classifications:

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


External Ids:

OMIM® 57 257960
UMLS via Orphanet 72 C1850332
Orphanet 58 ORPHA2718
MedGen 40 C1850332
UMLS 71 C1850332

Summaries for Oculotrichodysplasia

Orphanet: 58 A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.

MalaCards based summary: Oculotrichodysplasia, also known as cecato de lima-pinheiro syndrome, is related to retinitis pigmentosa and hypotrichosis 7. Affiliated tissues include skin and eye, and related phenotypes are carious teeth and dry skin

More information from OMIM: 257960

Related Diseases for Oculotrichodysplasia

Diseases related to Oculotrichodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 9.9
2 hypotrichosis 7 9.9
3 ectodermal dysplasia 9.9
4 retinitis 9.9
5 hypotrichosis 9.9
6 leukemia, acute lymphoblastic 9.9
7 childhood acute lymphocytic leukemia 9.9
8 testicular disease 9.9
9 larynx cancer 9.9
10 laryngeal benign neoplasm 9.9

Graphical network of the top 20 diseases related to Oculotrichodysplasia:



Diseases related to Oculotrichodysplasia

Symptoms & Phenotypes for Oculotrichodysplasia

Human phenotypes related to Oculotrichodysplasia:

30 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 30 HP:0000670
2 dry skin 30 HP:0000958
3 sparse scalp hair 30 HP:0002209
4 abnormality of metabolism/homeostasis 30 HP:0001939
5 sparse lateral eyebrow 30 HP:0005338
6 rod-cone dystrophy 30 HP:0000510
7 nail dysplasia 30 HP:0002164
8 sparse eyelashes 30 HP:0000653
9 sparse axillary hair 30 HP:0002215
10 sparse pubic hair 30 HP:0002225
11 trichodysplasia 30 HP:0002552
12 fragile nails 30 HP:0001808
13 agenesis of permanent teeth 30 HP:0006349
14 scaling skin 30 HP:0040189
15 microdontia of primary teeth 30 HP:0006347
16 widely spaced primary teeth 30 HP:0006313
17 generalized hypotrichosis 30 HP:0004528

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Teeth:
carious teeth
missing teeth
small, pointed deciduous teeth
widely spaced deciduous teeth

Hair:
trichodysplasia
generalized hypotrichosis
sparse scalp, axillary, and pubic hair

H E E N T:
retinitis pigmentosa
scanty eyelashes
sparse distal two-thirds of eyebrows

Skin:
dry skin
scaling skin

Nails:
fragile nails
onychodysplasia
brittle nails

Lab:
structural hair changes on scanning em

Clinical features from OMIM®:

257960 (Updated 24-Oct-2022)

Drugs & Therapeutics for Oculotrichodysplasia

Search Clinical Trials, NIH Clinical Center for Oculotrichodysplasia

Genetic Tests for Oculotrichodysplasia

Anatomical Context for Oculotrichodysplasia

Organs/tissues related to Oculotrichodysplasia:

MalaCards : Skin, Eye

Publications for Oculotrichodysplasia

Articles related to Oculotrichodysplasia:

# Title Authors PMID Year
1
Oculotrichodysplasia (OTD): a new probably autosomal recessive condition. 62 57
3398012 1988

Variations for Oculotrichodysplasia

Expression for Oculotrichodysplasia

Search GEO for disease gene expression data for Oculotrichodysplasia.

Pathways for Oculotrichodysplasia

GO Terms for Oculotrichodysplasia

Sources for Oculotrichodysplasia

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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