MCID: OST136
MIFTS: 25

Osteopetrosis, Autosomal Recessive 7

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

Aliases & Classifications for Osteopetrosis, Autosomal Recessive 7

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 7:

Name: Osteopetrosis, Autosomal Recessive 7 57 75 13 73
Optb7 57 12 53 75
Autosomal Recessive Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia 12 53 59
Autosomal Recessive Osteopetrosis Type 7 12 53 59
Osteopetrosis Autosomal Recessive 7 53 29 6
Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia 12 75
Osteopetrosis-Hypogammaglobulinemia Syndrome 12 59
Osteopetrosis, Osteoclast-Poor, with Hypogammaglobulinemia 57
Osteopetrosis Osteoclast-Poor with Hypogammaglobulinemia 53
Osteopetrosis, Autosomal Recessive, Type 7 40
Autosomal Recessive Osteopetrosis 7 12

Characteristics:

Orphanet epidemiological data:

59
osteopetrosis-hypogammaglobulinemia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

HPO:

32
osteopetrosis, autosomal recessive 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612301
Disease Ontology 12 DOID:0110946
ICD10 33 Q78.2
Orphanet 59 ORPHA178389
ICD10 via Orphanet 34 Q78.2
UMLS via Orphanet 74 C2676766
MedGen 42 C2676766
MeSH 44 D010022
UMLS 73 C2676766

Summaries for Osteopetrosis, Autosomal Recessive 7

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 7, also known as optb7, is related to osteopetrosis, autosomal recessive 2 and osteopetrosis. An important gene associated with Osteopetrosis, Autosomal Recessive 7 is TNFRSF11A (TNF Receptor Superfamily Member 11a). Affiliated tissues include bone and bone marrow, and related phenotypes are progressive visual loss and nystagmus

Disease Ontology : 12 An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.

UniProtKB/Swiss-Prot : 75 Osteopetrosis, autosomal recessive 7: 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. OPTB7 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. OPTB7 is associated with hypogammaglobulinemia.

Description from OMIM: 612301

Related Diseases for Osteopetrosis, Autosomal Recessive 7

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 7

Clinical features from OMIM:

612301

Human phenotypes related to Osteopetrosis, Autosomal Recessive 7:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 32 HP:0000529
2 nystagmus 32 HP:0000639
3 global developmental delay 32 HP:0001263
4 anemia 32 HP:0001903
5 decreased antibody level in blood 32 very rare (1%) HP:0004313
6 recurrent pneumonia 32 HP:0006532
7 optic nerve compression 32 HP:0007807
8 osteopetrosis 32 HP:0011002
9 abnormal trabecular bone morphology 32 HP:0100671

Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 7

Search Clinical Trials , NIH Clinical Center for Osteopetrosis, Autosomal Recessive 7

Genetic Tests for Osteopetrosis, Autosomal Recessive 7

Genetic tests related to Osteopetrosis, Autosomal Recessive 7:

# Genetic test Affiliating Genes
1 Osteopetrosis Autosomal Recessive 7 29 TNFRSF11A

Anatomical Context for Osteopetrosis, Autosomal Recessive 7

MalaCards organs/tissues related to Osteopetrosis, Autosomal Recessive 7:

41
Bone, Bone Marrow

Publications for Osteopetrosis, Autosomal Recessive 7

Articles related to Osteopetrosis, Autosomal Recessive 7:

# Title Authors Year
1
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. ( 18606301 )
2008

Variations for Osteopetrosis, Autosomal Recessive 7

UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis, Autosomal Recessive 7:

75
# Symbol AA change Variation ID SNP ID
1 TNFRSF11A p.Gly53Arg VAR_046788 rs121908659
2 TNFRSF11A p.Arg129Cys VAR_046789 rs121908657
3 TNFRSF11A p.Arg170Gly VAR_046791 rs121908655
4 TNFRSF11A p.Cys175Arg VAR_046792 rs121908656
5 TNFRSF11A p.Ala244Ser VAR_046793 rs121908658

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TNFRSF11A NM_003839.3(TNFRSF11A): c.508A> G (p.Arg170Gly) single nucleotide variant Pathogenic rs121908655 GRCh37 Chromosome 18, 60025561: 60025561
2 TNFRSF11A NM_003839.3(TNFRSF11A): c.508A> G (p.Arg170Gly) single nucleotide variant Pathogenic rs121908655 GRCh38 Chromosome 18, 62358328: 62358328
3 TNFRSF11A NM_003839.3(TNFRSF11A): c.523T> C (p.Cys175Arg) single nucleotide variant Pathogenic rs121908656 GRCh37 Chromosome 18, 60027189: 60027189
4 TNFRSF11A NM_003839.3(TNFRSF11A): c.523T> C (p.Cys175Arg) single nucleotide variant Pathogenic rs121908656 GRCh38 Chromosome 18, 62359956: 62359956
5 TNFRSF11A NM_003839.3(TNFRSF11A): c.730G> T (p.Ala244Ser) single nucleotide variant Pathogenic rs121908658 GRCh37 Chromosome 18, 60029026: 60029026
6 TNFRSF11A NM_003839.3(TNFRSF11A): c.730G> T (p.Ala244Ser) single nucleotide variant Pathogenic rs121908658 GRCh38 Chromosome 18, 62361793: 62361793
7 TNFRSF11A NM_003839.3(TNFRSF11A): c.157G> C (p.Gly53Arg) single nucleotide variant Pathogenic rs121908659 GRCh37 Chromosome 18, 60015482: 60015482
8 TNFRSF11A NM_003839.3(TNFRSF11A): c.157G> C (p.Gly53Arg) single nucleotide variant Pathogenic rs121908659 GRCh38 Chromosome 18, 62348249: 62348249

Expression for Osteopetrosis, Autosomal Recessive 7

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Recessive 7.

Pathways for Osteopetrosis, Autosomal Recessive 7

GO Terms for Osteopetrosis, Autosomal Recessive 7

Sources for Osteopetrosis, Autosomal Recessive 7

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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