OPTA3
MCID: OST171
MIFTS: 22

Osteopetrosis, Autosomal Dominant 3 (OPTA3)

Categories: Blood diseases, Bone diseases, Cancer diseases, Ear 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 72 29 6
Opta3 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
phenotypic variability
based on report of 2 unrelated patients (last curated august 2018)

Inheritance:
autosomal dominant


HPO:

31
osteopetrosis, autosomal dominant 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618107
OMIM Phenotypic Series 57 PS607634
MeSH 44 D010022

Summaries for Osteopetrosis, Autosomal Dominant 3

UniProtKB/Swiss-Prot : 72 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) (Updated 05-Apr-2021)

Related Diseases for Osteopetrosis, Autosomal Dominant 3

Symptoms & Phenotypes for Osteopetrosis, Autosomal Dominant 3

Human phenotypes related to Osteopetrosis, Autosomal Dominant 3:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 HP:0000938
2 splenomegaly 31 HP:0001744
3 hepatomegaly 31 HP:0002240
4 thickened calvaria 31 HP:0002684
5 anemia 31 HP:0001903
6 recurrent fractures 31 HP:0002757
7 agenesis of permanent teeth 31 HP:0006349

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
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. 57 6
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. 57 6
17997709 2008

Variations for Osteopetrosis, Autosomal Dominant 3

ClinVar genetic disease variations for Osteopetrosis, Autosomal Dominant 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLEKHM1 NM_014798.3(PLEKHM1):c.2140C>T (p.Arg714Cys) SNV Pathogenic 560304 rs559224144 GRCh37: 17:43531078-43531078
GRCh38: 17:45453712-45453712
2 PLEKHM1 NM_014798.3(PLEKHM1):c.3051_3052CA[1] (p.Thr1018fs) Microsatellite Pathogenic 560305 rs1567759023 GRCh37: 17:43516848-43516849
GRCh38: 17:45439482-45439483

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
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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