OPTA3
MCID: OST171
MIFTS: 20

Osteopetrosis, Autosomal Dominant 3 (OPTA3)

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune 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 6
Opta3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
osteopetrosis, autosomal dominant 3:
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 57 618107

Summaries for Osteopetrosis, Autosomal Dominant 3

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)

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, eye and bone marrow, and related phenotypes are osteopenia and thickened calvaria

Related Diseases for Osteopetrosis, Autosomal Dominant 3

Symptoms & Phenotypes for Osteopetrosis, Autosomal Dominant 3

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

Human phenotypes related to Osteopetrosis, Autosomal Dominant 3:

32
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 thickened calvaria 32 HP:0002684
3 anemia 32 HP:0001903
4 recurrent fractures 32 HP:0002757

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:

41
Bone, Eye, Bone Marrow

Publications for Osteopetrosis, Autosomal Dominant 3

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 rs559224144 GRCh37 Chromosome 17, 43531078: 43531078
2 PLEKHM1 NM_014798.2(PLEKHM1): c.2140C> T (p.Arg714Cys) single nucleotide variant Pathogenic rs559224144 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
45 MESH via Orphanet
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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