OPTB6
MCID: OST134
MIFTS: 31

Osteopetrosis, Autosomal Recessive 6 (OPTB6)

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 Recessive 6

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 6:

Name: Osteopetrosis, Autosomal Recessive 6 58 76 13 74
Optb6 58 12 54 76
Osteopetrosis Autosomal Recessive 6 54 30 6
Autosomal Recessive Osteopetrosis Intermediate Form 12 76
Osteopetrosis, Autosomal Recessive, Intermediate Form 58
Osteopetrosis Autosomal Recessive Intermediate Form 54
Autosomal Recessive Intermediate Osteopetrosis 60
Osteopetrosis, Autosomal Recessive, Type 6 41
Autosomal Recessive Osteopetrosis Type 6 54
Autosomal Recessive Osteopetrosis 6 12
Intermediate Osteopetrosis 60

Characteristics:

Orphanet epidemiological data:

60
intermediate osteopetrosis
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated august 2018)
younger homozygous sib showed only dense metaphyseal bands in femur


HPO:

33
osteopetrosis, autosomal recessive 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110945
OMIM 58 611497
MeSH 45 D010022
ICD10 via Orphanet 35 Q78.2
UMLS via Orphanet 75 C0432261 C1969093
Orphanet 60 ORPHA210110
MedGen 43 C1969093
SNOMED-CT via HPO 70 1926006 258211005 367489004
UMLS 74 C1969093

Summaries for Osteopetrosis, Autosomal Recessive 6

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 Recessive 6, also known as optb6, is related to osteopetrosis and autosomal recessive malignant osteopetrosis. An important gene associated with Osteopetrosis, Autosomal Recessive 6 is PLEKHM1 (Pleckstrin Homology And RUN Domain Containing M1), and among its related pathways/superpathways is Ion channel transport. Affiliated tissues include bone and bone marrow, and related phenotypes are osteopetrosis and dense metaphyseal bands

Disease Ontology : 12 An osteopetrosis characterized by autosomal recessive inheritance of that has material basis in mutation in the PLEKHM1 gene on chromosome 17q21.31.

UniProtKB/Swiss-Prot : 76 Osteopetrosis, autosomal recessive 6: 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. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.

Description from OMIM: 611497

Related Diseases for Osteopetrosis, Autosomal Recessive 6

Graphical network of the top 20 diseases related to Osteopetrosis, Autosomal Recessive 6:



Diseases related to Osteopetrosis, Autosomal Recessive 6

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 6

Human phenotypes related to Osteopetrosis, Autosomal Recessive 6:

33
# Description HPO Frequency HPO Source Accession
1 osteopetrosis 33 HP:0011002
2 dense metaphyseal bands 33 HP:0100959
3 erlenmeyer flask deformity of the femurs 33 HP:0004975

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
band-like sclerosis of vertebral endplates ('rugger-jersey' spine)

Skeletal Limbs:
nonhomogeneous sclerosis of metadiaphyses (distal femora, tibiae, and fibulae, and proximal fibulae and tibiae)
'erlenmeyer flask' deformity of distal femora and proximal tibiae

Skeletal Pelvis:
cortical sclerosis of pelvic bones

Clinical features from OMIM:

611497

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 6:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.13 CLCN7 PLEKHM1 TCIRG1
2 skeleton MP:0005390 8.8 CLCN7 PLEKHM1 TCIRG1

Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 6

Search Clinical Trials , NIH Clinical Center for Osteopetrosis, Autosomal Recessive 6

Genetic Tests for Osteopetrosis, Autosomal Recessive 6

Genetic tests related to Osteopetrosis, Autosomal Recessive 6:

# Genetic test Affiliating Genes
1 Osteopetrosis Autosomal Recessive 6 30 PLEKHM1

Anatomical Context for Osteopetrosis, Autosomal Recessive 6

MalaCards organs/tissues related to Osteopetrosis, Autosomal Recessive 6:

42
Bone, Bone Marrow

Publications for Osteopetrosis, Autosomal Recessive 6

Articles related to Osteopetrosis, Autosomal Recessive 6:

# Title Authors Year
1
Dental management in autosomal recessive (intermediate) osteopetrosis: a case report. ( 21462770 )
2010

Variations for Osteopetrosis, Autosomal Recessive 6

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEKHM1 NM_014798.2(PLEKHM1): c.296+1G> A single nucleotide variant Pathogenic rs786205055 GRCh37 Chromosome 17, 43555265: 43555265
2 PLEKHM1 NM_014798.2(PLEKHM1): c.296+1G> A single nucleotide variant Pathogenic rs786205055 GRCh38 Chromosome 17, 45477899: 45477899

Expression for Osteopetrosis, Autosomal Recessive 6

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Recessive 6.

Pathways for Osteopetrosis, Autosomal Recessive 6

Pathways related to Osteopetrosis, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.12 CLCN7 TCIRG1

GO Terms for Osteopetrosis, Autosomal Recessive 6

Cellular components related to Osteopetrosis, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.16 CLCN7 PLEKHM1
2 endosome membrane GO:0010008 8.96 PLEKHM1 TCIRG1
3 lysosomal membrane GO:0005765 8.8 CLCN7 PLEKHM1 TCIRG1

Sources for Osteopetrosis, Autosomal Recessive 6

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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