OPTA1
MCID: OST125
MIFTS: 26

Osteopetrosis, Autosomal Dominant 1 (OPTA1)

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Osteopetrosis, Autosomal Dominant 1

MalaCards integrated aliases for Osteopetrosis, Autosomal Dominant 1:

Name: Osteopetrosis, Autosomal Dominant 1 58 76 13 74
Osteopetrosis Autosomal Dominant Type 1 54 30 6 45
Opta1 58 12 54 76
Autosomal Dominant Osteopetrosis Type 1 12 54 60
Autosomal Dominant Osteopetrosis 1 12 15
Osteopetrosis, Autosomal Dominant, Type I 58
Osteopetrosis, Autosomal Dominant, Type 1 41

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant osteopetrosis type 1
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
progressive sclerosis with age
allelic to osteoporosis-pseudoglioma syndrome , van buchem type 2 , high bone mass , autosomal dominant endosteal hyperostosis


HPO:

33
osteopetrosis, autosomal dominant 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110937
OMIM 58 607634
MESH via Orphanet 46 C536056
ICD10 via Orphanet 35 Q78.2
UMLS via Orphanet 75 C1843330 C2931097
Orphanet 60 ORPHA2783
MedGen 43 C1843330
UMLS 74 C1843330

Summaries for Osteopetrosis, Autosomal Dominant 1

NIH Rare Diseases : 54 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.

MalaCards based summary : Osteopetrosis, Autosomal Dominant 1, also known as osteopetrosis autosomal dominant type 1, is related to osteopetrosis, autosomal dominant 2 and osteopetrosis, autosomal dominant 3, and has symptoms including headache An important gene associated with Osteopetrosis, Autosomal Dominant 1 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include bone and bone marrow, and related phenotypes are thickened calvaria and generalized osteosclerosis

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 : 58 The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 is 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 (summary by Van Hul et al., 2002). (607634)

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Osteopetrosis, Autosomal Dominant 1

Symptoms & Phenotypes for Osteopetrosis, Autosomal Dominant 1

Human phenotypes related to Osteopetrosis, Autosomal Dominant 1:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 thickened calvaria 33 HP:0002684
2 generalized osteosclerosis 33 HP:0005789
3 conductive hearing impairment 33 HP:0000405
4 abnormality of pelvic girdle bone morphology 33 HP:0002644
5 headache 33 HP:0002315
6 abnormality of the vertebral column 33 HP:0000925
7 osteopetrosis 33 HP:0011002

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
headache

Skeletal Skull:
thickened cranial vault
pronounced calvarial sclerosis

Skeletal Spine:
no 'rugger-jersey spine'
variable sclerosis

Laboratory Abnormalities:
normal serum acid phosphatase

Head And Neck Ears:
conductive hearing loss

Skeletal:
diffuse, symmetrical osteosclerosis
no increased fracture rate

Skeletal Pelvis:
no endobones

Clinical features from OMIM:

607634

UMLS symptoms related to Osteopetrosis, Autosomal Dominant 1:


headache

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Dominant 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 HTRA1 LRP5

Drugs & Therapeutics for Osteopetrosis, Autosomal Dominant 1

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Osteopetrosis Autosomal Dominant Type 1 30 LRP5

Anatomical Context for Osteopetrosis, Autosomal Dominant 1

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

42
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:

76
# 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
# 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.511G> C (p.Gly171Arg) single nucleotide variant Pathogenic rs121908669 GRCh38 Chromosome 11, 68357672: 68357672
3 LRP5 NM_002335.3(LRP5): c.724G> A (p.Ala242Thr) single nucleotide variant Pathogenic rs121908670 GRCh37 Chromosome 11, 68131252: 68131252
4 LRP5 NM_002335.3(LRP5): c.724G> A (p.Ala242Thr) single nucleotide variant Pathogenic rs121908670 GRCh38 Chromosome 11, 68363784: 68363784
5 LRP5 NM_002335.3(LRP5): c.758C> T (p.Thr253Ile) single nucleotide variant Pathogenic rs121908673 GRCh37 Chromosome 11, 68131286: 68131286
6 LRP5 NM_002335.3(LRP5): c.758C> T (p.Thr253Ile) single nucleotide variant Pathogenic rs121908673 GRCh38 Chromosome 11, 68363818: 68363818

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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