OTD
MCID: OCL057
MIFTS: 19

Oculotrichodysplasia (OTD)

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Oculotrichodysplasia

MalaCards integrated aliases for Oculotrichodysplasia:

Name: Oculotrichodysplasia 56 58 71
Cecato De Lima-Pinheiro Syndrome 58
Otd 56

Characteristics:

Orphanet epidemiological data:

58
oculotrichodysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
oculotrichodysplasia:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

OMIM 56 257960
UMLS via Orphanet 72 C1850332
Orphanet 58 ORPHA2718
MedGen 41 C1850332
UMLS 71 C1850332

Summaries for Oculotrichodysplasia

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

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 10.2
2 neuroretinitis 10.2
3 ectodermal dysplasia 10.2
4 retinitis 10.2
5 hypotrichosis 10.2
6 leukemia, acute lymphoblastic 10.1
7 childhood acute lymphocytic leukemia 10.1
8 lymphocytic leukemia 10.1
9 testicular disease 10.1

Graphical network of the top 20 diseases related to Oculotrichodysplasia:



Diseases related to Oculotrichodysplasia

Symptoms & Phenotypes for Oculotrichodysplasia

Human phenotypes related to Oculotrichodysplasia:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 carious teeth 31 HP:0000670
2 rod-cone dystrophy 31 HP:0000510
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 scaling skin 31 HP:0040189
5 dry skin 31 HP:0000958
6 sparse scalp hair 31 HP:0002209
7 nail dysplasia 31 HP:0002164
8 sparse lateral eyebrow 31 HP:0005338
9 sparse eyelashes 31 HP:0000653
10 sparse axillary hair 31 HP:0002215
11 sparse pubic hair 31 HP:0002225
12 fragile nails 31 HP:0001808
13 trichodysplasia 31 HP:0002552
14 agenesis of permanent teeth 31 HP:0006349
15 microdontia of primary teeth 31 HP:0006347
16 generalized hypotrichosis 31 HP:0004528
17 widely spaced primary teeth 31 HP:0006313

Symptoms via clinical synopsis from OMIM:

56
Teeth:
carious teeth
missing teeth
small, pointed deciduous teeth
widely spaced deciduous teeth

Nails:
fragile nails
onychodysplasia
brittle nails

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

Skin:
scaling skin
dry skin

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

Lab:
structural hair changes on scanning em

Clinical features from OMIM:

257960

Drugs & Therapeutics for Oculotrichodysplasia

Search Clinical Trials , NIH Clinical Center for Oculotrichodysplasia

Genetic Tests for Oculotrichodysplasia

Anatomical Context for Oculotrichodysplasia

MalaCards organs/tissues related to Oculotrichodysplasia:

40
Skin, Eye

Publications for Oculotrichodysplasia

Articles related to Oculotrichodysplasia:

# Title Authors PMID Year
1
Oculotrichodysplasia (OTD): a new probably autosomal recessive condition. 61 56
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

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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