OPTA1
MCID: OST125
MIFTS: 29

Osteopetrosis, Autosomal Dominant 1 (OPTA1) malady

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

Aliases & Classifications for Osteopetrosis, Autosomal Dominant 1

Aliases & Descriptions for Osteopetrosis, Autosomal Dominant 1:

Name: Osteopetrosis, Autosomal Dominant 1 54 66 13 69
Autosomal Dominant Osteopetrosis Type 1 12 50 56
Osteopetrosis Autosomal Dominant Type 1 50 29 42
Opta1 12 50 66
Autosomal Dominant Osteopetrosis 1 12

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant osteopetrosis type 1
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

HPO:

32
osteopetrosis, autosomal dominant 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 607634
Disease Ontology 12 DOID:0110937
ICD10 33 Q78.2
Orphanet 56 ORPHA2783
MESH via Orphanet 43 C536056
UMLS via Orphanet 70 C2931097
ICD10 via Orphanet 34 Q78.2
MedGen 40 C1843330
UMLS 69 C2931097

Summaries for Osteopetrosis, Autosomal Dominant 1

NIH Rare Diseases : 50 osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on x-ray. depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia. in rare cases, there may be neurological impairment or involvement of other body systems. osteopetrosis may be caused by mutations in at least 10 genes. inheritance can be autosomal recessive, autosomal dominant, or x-linked recessive with the most severe forms being autosomal recessive. management depends on the specific symptoms and severity and may include vitamin d supplements, various medications, and/or surgery. adult osteopetrosis requires no treatment by itself, but complications may require intervention. last updated: 7/20/2016

MalaCards based summary : Osteopetrosis, Autosomal Dominant 1, also known as autosomal dominant osteopetrosis type 1, is related to osteopetrosis, autosomal recessive 1 and osteopetrosis, autosomal dominant 2, and has symptoms including headache, thickened calvaria and generalized osteosclerosis. An important gene associated with Osteopetrosis, Autosomal Dominant 1 is LRP5 (LDL Receptor Related Protein 5). The drugs Anti-Infective Agents and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow.

Disease Ontology : 12 An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has material basis in heterozygous mutation in the LRP5 gene on chromosome 11q13.

OMIM : 54 The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to... (607634) more...

UniProtKB/Swiss-Prot : 66 Osteopetrosis, autosomal dominant 1: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA1 is an autosomal dominant form characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate.

Symptoms & Phenotypes for Osteopetrosis, Autosomal Dominant 1

Symptoms by clinical synopsis from OMIM:

607634

Clinical features from OMIM:

607634

Human phenotypes related to Osteopetrosis, Autosomal Dominant 1:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 headache 32 HP:0002315
2 thickened calvaria 32 HP:0002684
3 generalized osteosclerosis 32 HP:0005789
4 conductive hearing impairment 32 HP:0000405
5 abnormality of pelvic girdle bone morphology 32 HP:0002644
6 abnormality of the vertebral column 32 HP:0000925
7 osteopetrosis 32 HP:0011002

UMLS symptoms related to Osteopetrosis, Autosomal Dominant 1:


headache

Drugs & Therapeutics for Osteopetrosis, Autosomal Dominant 1

Drugs for Osteopetrosis, Autosomal Dominant 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents Phase 2
2 Antiviral Agents Phase 2
3 Interferon-gamma Phase 2
4 interferons Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Use of ACTIMMUNE in Patients With ADO2 Recruiting NCT02584608 Phase 2

Search NIH Clinical Center for Osteopetrosis, Autosomal Dominant 1

Cochrane evidence based reviews: osteopetrosis autosomal dominant type 1

Genetic Tests for Osteopetrosis, Autosomal Dominant 1

Genetic tests related to Osteopetrosis, Autosomal Dominant 1:

id Genetic test Affiliating Genes
1 Osteopetrosis Autosomal Dominant Type 1 29

Anatomical Context for Osteopetrosis, Autosomal Dominant 1

MalaCards organs/tissues related to Osteopetrosis, Autosomal Dominant 1:

39
Bone, Bone Marrow

Publications for Osteopetrosis, Autosomal Dominant 1

Variations for Osteopetrosis, Autosomal Dominant 1

UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis, Autosomal Dominant 1:

66
id Symbol AA change Variation ID SNP ID
1 LRP5 p.Asp111Tyr VAR_021807
2 LRP5 p.Gly171Arg VAR_021808 rs121908669
3 LRP5 p.Ala242Thr VAR_021812 rs121908670
4 LRP5 p.Thr253Ile VAR_021813 rs121908673

ClinVar genetic disease variations for Osteopetrosis, Autosomal Dominant 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LRP5 NM_002335.3(LRP5): c.511G> C (p.Gly171Arg) single nucleotide variant Pathogenic rs121908669 GRCh37 Chromosome 11, 68125140: 68125140
2 LRP5 NM_002335.3(LRP5): c.724G> A (p.Ala242Thr) single nucleotide variant Pathogenic rs121908670 GRCh37 Chromosome 11, 68131252: 68131252
3 LRP5 NM_002335.3(LRP5): c.758C> T (p.Thr253Ile) single nucleotide variant Pathogenic rs121908673 GRCh37 Chromosome 11, 68131286: 68131286

Expression for Osteopetrosis, Autosomal Dominant 1

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Dominant 1.

Pathways for Osteopetrosis, Autosomal Dominant 1

GO Terms for Osteopetrosis, Autosomal Dominant 1

Sources for Osteopetrosis, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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