MCID: OST061
MIFTS: 15

Osteosclerosis with Ichthyosis and Premature Ovarian Failure

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

MalaCards integrated aliases for Osteosclerosis with Ichthyosis and Premature Ovarian Failure:

Name: Osteosclerosis with Ichthyosis and Premature Ovarian Failure 56 52
Sclerosing Dysplasia of Bone with Ichthyosis and Premature Ovarian Failure 56 52
Sclerosing Dysplasia of Bone-Ichthyosis-Premature Ovarian Failure Syndrome 58
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome 58
Osteosclerosis with Ichthyosis and Pof 52

Characteristics:

Orphanet epidemiological data:

58
osteosclerosis-ichthyosis-premature ovarian failure syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare bone diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 609993
MESH via Orphanet 44 C536064
UMLS via Orphanet 72 C1864942
Orphanet 58 ORPHA75325
MedGen 41 C1864942
SNOMED-CT via HPO 68 102572006 373717006 49347007

Summaries for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

MalaCards based summary : Osteosclerosis with Ichthyosis and Premature Ovarian Failure, is also known as sclerosing dysplasia of bone with ichthyosis and premature ovarian failure. Affiliated tissues include bone and skin, and related phenotypes are ichthyosis and premature ovarian insufficiency

More information from OMIM: 609993

Related Diseases for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

Symptoms & Phenotypes for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

Human phenotypes related to Osteosclerosis with Ichthyosis and Premature Ovarian Failure:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
2 premature ovarian insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008209
3 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
4 pedal edema 31 hallmark (90%) HP:0010741
5 precocious menopause 58 Very frequent (99-80%)
6 edema of the lower limbs 58 Very frequent (99-80%)

Clinical features from OMIM:

609993

Drugs & Therapeutics for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

Search Clinical Trials , NIH Clinical Center for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

Genetic Tests for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

Anatomical Context for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

MalaCards organs/tissues related to Osteosclerosis with Ichthyosis and Premature Ovarian Failure:

40
Bone, Skin

Publications for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

Articles related to Osteosclerosis with Ichthyosis and Premature Ovarian Failure:

# Title Authors PMID Year
1
Mixed sclerosing dysplasia of the bone associated with ovarian and skin problems. 56
15995452 2005

Variations for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

Expression for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

Search GEO for disease gene expression data for Osteosclerosis with Ichthyosis and Premature Ovarian Failure.

Pathways for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

GO Terms for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

Sources for Osteosclerosis with Ichthyosis and Premature Ovarian Failure

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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