MCID: OST058
MIFTS: 16

Osteopoikilosis and Dacryocystitis

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Osteopoikilosis and Dacryocystitis

MalaCards integrated aliases for Osteopoikilosis and Dacryocystitis:

Name: Osteopoikilosis and Dacryocystitis 57 20 70
Dacryocystitis-Osteopoikilosis Syndrome 58
Dacryocystitis Osteopoikilosis 20
Gunal Seber Basaran Syndrome 20
Gunal-Seber-Basaran Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
dacryocystitis-osteopoikilosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
osteopoikilosis and dacryocystitis:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

OMIM® 57 166705
MESH via Orphanet 45 C536061
UMLS via Orphanet 71 C1833698
Orphanet 58 ORPHA1562
MedGen 41 C1833698
SNOMED-CT via HPO 68 263681008 85777005 9147009
UMLS 70 C1833698

Summaries for Osteopoikilosis and Dacryocystitis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1562 Definition Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).

MalaCards based summary : Osteopoikilosis and Dacryocystitis, is also known as dacryocystitis-osteopoikilosis syndrome. Affiliated tissues include eye and bone, and related phenotypes are lacrimation abnormality and dacryocystitis

More information from OMIM: 166705

Related Diseases for Osteopoikilosis and Dacryocystitis

Symptoms & Phenotypes for Osteopoikilosis and Dacryocystitis

Human phenotypes related to Osteopoikilosis and Dacryocystitis:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lacrimation abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000632
2 dacryocystitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000620
3 osteopoikilosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010739
4 increased bone mineral density 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
H E E N T:
dacryocystitis

Skel:
osteopoikilosis

Clinical features from OMIM®:

166705 (Updated 05-Apr-2021)

Drugs & Therapeutics for Osteopoikilosis and Dacryocystitis

Search Clinical Trials , NIH Clinical Center for Osteopoikilosis and Dacryocystitis

Genetic Tests for Osteopoikilosis and Dacryocystitis

Anatomical Context for Osteopoikilosis and Dacryocystitis

MalaCards organs/tissues related to Osteopoikilosis and Dacryocystitis:

40
Eye, Bone

Publications for Osteopoikilosis and Dacryocystitis

Articles related to Osteopoikilosis and Dacryocystitis:

# Title Authors PMID Year
1
Dacryocystitis associated with osteopoikilosis. 57
8261652 1993

Variations for Osteopoikilosis and Dacryocystitis

Expression for Osteopoikilosis and Dacryocystitis

Search GEO for disease gene expression data for Osteopoikilosis and Dacryocystitis.

Pathways for Osteopoikilosis and Dacryocystitis

GO Terms for Osteopoikilosis and Dacryocystitis

Sources for Osteopoikilosis and Dacryocystitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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