MCID: OST134
MIFTS: 30

Osteopetrosis, Autosomal Recessive 6

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Eye diseases, Nephrological diseases, Neuronal diseases, Blood diseases

Aliases & Classifications for Osteopetrosis, Autosomal Recessive 6

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 6:

Name: Osteopetrosis, Autosomal Recessive 6 57 75 13 73
Optb6 57 12 53 75
Osteopetrosis Autosomal Recessive 6 53 29 6
Autosomal Recessive Osteopetrosis Intermediate Form 12 75
Osteopetrosis, Autosomal Recessive, Intermediate Form 57
Osteopetrosis Autosomal Recessive Intermediate Form 53
Autosomal Recessive Intermediate Osteopetrosis 59
Osteopetrosis, Autosomal Recessive, Type 6 40
Autosomal Recessive Osteopetrosis Type 6 53
Autosomal Recessive Osteopetrosis 6 12
Intermediate Osteopetrosis 59

Characteristics:

Orphanet epidemiological data:

59
intermediate osteopetrosis
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

HPO:

32
osteopetrosis, autosomal recessive 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 611497
Disease Ontology 12 DOID:0110945
Orphanet 59 ORPHA210110
UMLS via Orphanet 74 C1969093 C0432261
ICD10 via Orphanet 34 Q78.2
MedGen 42 C1969093
MeSH 44 D010022
SNOMED-CT via HPO 69 258211005 1926006 367489004
UMLS 73 C1969093

Summaries for Osteopetrosis, Autosomal Recessive 6

NIH Rare Diseases : 53 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 erlenmeyer flask deformity of the femurs and osteopetrosis

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 : 75 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

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 6

Clinical features from OMIM:

611497

Human phenotypes related to Osteopetrosis, Autosomal Recessive 6:

32
# Description HPO Frequency HPO Source Accession
1 erlenmeyer flask deformity of the femurs 32 HP:0004975
2 osteopetrosis 32 HP:0011002
3 dense metaphyseal bands 32 HP:0100959

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 6:

46
# 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 29 PLEKHM1

Anatomical Context for Osteopetrosis, Autosomal Recessive 6

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

41
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

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

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 8.62 CLCN7 TCIRG1

Sources for Osteopetrosis, Autosomal Recessive 6

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
Content
Loading form....