OPTA3
MCID: OST171
MIFTS: 22

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 58 76 6
Opta3 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
osteopetrosis, autosomal dominant 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 618107
MeSH 45 D010022
MedGen 43 CN253817

Summaries for Osteopetrosis, Autosomal Dominant 3

UniProtKB/Swiss-Prot : 76 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, bone marrow and eye, and related phenotypes are osteopenia and thickened calvaria

OMIM : 58 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:

33
# Description HPO Frequency HPO Source Accession
1 osteopenia 33 HP:0000938
2 thickened calvaria 33 HP:0002684
3 anemia 33 HP:0001903
4 recurrent fractures 33 HP:0002757

Symptoms via clinical synopsis from OMIM:

58
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

Anatomical Context for Osteopetrosis, Autosomal Dominant 3

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

42
Bone, Bone Marrow, Eye

Publications for Osteopetrosis, Autosomal Dominant 3

Articles related to Osteopetrosis, Autosomal Dominant 3:

# Title Authors Year
1
Characterization of a Relatively Malignant Form of Osteopetrosis Caused by a Novel Mutation in the PLEKHM1 Gene. ( 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. ( 17997709 )
2008

Variations for Osteopetrosis, Autosomal Dominant 3

ClinVar genetic disease variations for Osteopetrosis, Autosomal Dominant 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEKHM1 NM_014798.2(PLEKHM1): c.2140C> T (p.Arg714Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 43531078: 43531078
2 PLEKHM1 NM_014798.2(PLEKHM1): c.2140C> T (p.Arg714Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 45453712: 45453712
3 PLEKHM1 NM_014798.2(PLEKHM1): c.3051_3052del (p.Thr1018Serfs) deletion Pathogenic GRCh37 Chromosome 17, 43516850: 43516851
4 PLEKHM1 NM_014798.2(PLEKHM1): c.3051_3052del (p.Thr1018Serfs) deletion Pathogenic GRCh38 Chromosome 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

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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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