OPTA3
MCID: OST171
MIFTS: 21

Osteopetrosis, Autosomal Dominant 3 (OPTA3)

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 3

MalaCards integrated aliases for Osteopetrosis, Autosomal Dominant 3:

Name: Osteopetrosis, Autosomal Dominant 3 57 74 29 6
Opta3 57 74

Characteristics:

OMIM:

57
Miscellaneous:
phenotypic variability
based on report of 2 unrelated patients (last curated august 2018)

Inheritance:
autosomal dominant


HPO:

32
osteopetrosis, autosomal dominant 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D010022

Summaries for Osteopetrosis, Autosomal Dominant 3

UniProtKB/Swiss-Prot : 74 Osteopetrosis, autosomal dominant 3: A form of osteopetrosis, 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 an autosomal dominant form occurring in adolescence or adulthood. OPTA3 is characterized by typical features of osteopetrosis such as fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density. Some patients exhibit localized osteosclerosis and generalized osteopenia.

MalaCards based summary : Osteopetrosis, Autosomal Dominant 3, is also known as opta3. An important gene associated with Osteopetrosis, Autosomal Dominant 3 is PLEKHM1 (Pleckstrin Homology And RUN Domain Containing M1). Affiliated tissues include bone and bone marrow, and related phenotypes are osteopenia and splenomegaly

OMIM : 57 Autosomal dominant osteopetrosis-3 is characterized by phenotypic variability. Some patients have typical features of osteopetrosis, including fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density, whereas other patients exhibit localized osteosclerosis and generalized osteopenia. OPTA3 represents a relatively malignant form of osteopetrosis in some patients who develop significant pancytopenia and hepatosplenomegaly (Bo et al., 2016). For a discussion of genetic heterogeneity of autosomal dominant osteopetrosis, see OPTA1 (607634). (618107)

Related Diseases for Osteopetrosis, Autosomal Dominant 3

Symptoms & Phenotypes for Osteopetrosis, Autosomal Dominant 3

Human phenotypes related to Osteopetrosis, Autosomal Dominant 3:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 splenomegaly 32 HP:0001744
3 hepatomegaly 32 HP:0002240
4 thickened calvaria 32 HP:0002684
5 anemia 32 HP:0001903
6 recurrent fractures 32 HP:0002757
7 agenesis of permanent teeth 32 HP:0006349

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Hematology:
anemia
reduced white blood cell count
reduced platelet count

Head And Neck Teeth:
missing teeth

Skeletal Spine:
radiodense spine
osteophytes of vertebral bodies
'sandwich' vertebrae
'bone-within-bone' appearance of vertebrae
narrowing of bone marrow cavity

Skeletal Limbs:
generalized increase in density of long bones
radiolucent areas in femoral head
discrete areas of increased bone density in femoral head

Laboratory Abnormalities:
elevated acid phosphatase

Abdomen Liver:
hepatomegaly

Skeletal Skull:
sclerotic calvarium
thickened calvarium
localized osteosclerosis of the skull

Skeletal:
recurrent fractures with minor trauma
generalized osteopenia (in 1 patient)

Skeletal Pelvis:
increased density of central pelvic bones

Endocrine Features:
elevated parathyroid hormone (pth)

Clinical features from OMIM:

618107

Drugs & Therapeutics for Osteopetrosis, Autosomal Dominant 3

Search Clinical Trials , NIH Clinical Center for Osteopetrosis, Autosomal Dominant 3

Genetic Tests for Osteopetrosis, Autosomal Dominant 3

Genetic tests related to Osteopetrosis, Autosomal Dominant 3:

# Genetic test Affiliating Genes
1 Osteopetrosis, Autosomal Dominant 3 29 PLEKHM1

Anatomical Context for Osteopetrosis, Autosomal Dominant 3

MalaCards organs/tissues related to Osteopetrosis, Autosomal Dominant 3:

41
Bone, Bone Marrow

Publications for Osteopetrosis, Autosomal Dominant 3

Articles related to Osteopetrosis, Autosomal Dominant 3:

# Title Authors PMID Year
1
Characterization of a Relatively Malignant Form of Osteopetrosis Caused by a Novel Mutation in the PLEKHM1 Gene. 8 71
27291868 2016
2
A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts. 8 71
17997709 2008

Variations for Osteopetrosis, Autosomal Dominant 3

ClinVar genetic disease variations for Osteopetrosis, Autosomal Dominant 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PLEKHM1 NM_014798.3(PLEKHM1): c.2140C> T (p.Arg714Cys) single nucleotide variant Pathogenic 17:43531078-43531078 17:45453712-45453712
2 PLEKHM1 NM_014798.3(PLEKHM1): c.3051_3052CA[1] (p.Thr1018fs) short repeat Pathogenic 17:43516850-43516851 17:45439484-45439485

Expression for Osteopetrosis, Autosomal Dominant 3

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Dominant 3.

Pathways for Osteopetrosis, Autosomal Dominant 3

GO Terms for Osteopetrosis, Autosomal Dominant 3

Sources for Osteopetrosis, Autosomal Dominant 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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