MCID: OST129
MIFTS: 32

Osteopetrosis, Autosomal Recessive 2

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

Aliases & Classifications for Osteopetrosis, Autosomal Recessive 2

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 2:

Name: Osteopetrosis, Autosomal Recessive 2 57 75 13
Optb2 57 12 53 75
Osteopetrosis Autosomal Recessive 2 53 29 6
Osteopetrosis, Mild Autosomal Recessive Form 57 73
Osteoclast-Poor Osteopetrosis 12 75
Mild Autosomal Recessive Form Osteopetrosis 12
Osteopetrosis, Autosomal Recessive, Type 2 40
Autosomal Recessive Osteopetrosis Type 2 53
Autosomal Recessive Osteopetrosis 2 12
Osteopetrosis, Osteoclast-Poor 57
Osteopetrosis Osteoclast-Poor 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
also a mild dominant form and a lethal recessive form


HPO:

32
osteopetrosis, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteopetrosis, Autosomal Recessive 2

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 2, also known as optb2, is related to osteopetrosis, autosomal recessive 7 and autosomal recessive malignant osteopetrosis. An important gene associated with Osteopetrosis, Autosomal Recessive 2 is TNFSF11 (TNF Superfamily Member 11). Affiliated tissues include bone and bone marrow, and related phenotypes are mandibular prognathia and blindness

Disease Ontology : 12 An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the TNFSF11 gene on chromosome 13q14.

UniProtKB/Swiss-Prot : 75 Osteopetrosis, autosomal recessive 2: 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. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development.

Description from OMIM: 259710

Related Diseases for Osteopetrosis, Autosomal Recessive 2

Graphical network of the top 20 diseases related to Osteopetrosis, Autosomal Recessive 2:



Diseases related to Osteopetrosis, Autosomal Recessive 2

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 2

Symptoms via clinical synopsis from OMIM:

57
Skel:
genu valgum
osteosclerosis
multiple fractures
osteomyelitis, especially of the mandible

Heme:
anemia
pancytopenia
thrombocytopenia
extramedullary hematopoiesis

GI:
hepatosplenomegaly

Mandible:
mandibular prognathism

Teeth:
dental anomalies
dental caries
deciduous teeth retention
tooth crown malformation

Eyes:
optic atrophy
early blindness

Skull:
cranial hyperostosis

Limbs:
diaphyseal sclerosis

Neuro:
normal intelligence
facial paralysis due to cranial nerve vii compression

Nose:
chronic rhinitis due to narrow nasal airway


Clinical features from OMIM:

259710

Human phenotypes related to Osteopetrosis, Autosomal Recessive 2:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 32 HP:0000303
2 blindness 32 HP:0000618
3 optic atrophy 32 HP:0000648
4 carious teeth 32 HP:0000670
5 hepatosplenomegaly 32 HP:0001433
6 thrombocytopenia 32 HP:0001873
7 pancytopenia 32 HP:0001876
8 anemia 32 HP:0001903
9 extramedullary hematopoiesis 32 HP:0001978
10 recurrent fractures 32 HP:0002757
11 genu valgum 32 HP:0002857
12 diaphyseal sclerosis 32 HP:0003034
13 cranial hyperostosis 32 HP:0004437
14 chronic rhinitis due to narrow nasal airway 32 HP:0004499
15 persistence of primary teeth 32 HP:0006335
16 facial paralysis 32 HP:0007209
17 mandibular osteomyelitis 32 HP:0007626
18 osteopetrosis 32 HP:0011002

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 CLCN7 TNFSF11

Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 2

Search Clinical Trials , NIH Clinical Center for Osteopetrosis, Autosomal Recessive 2

Genetic Tests for Osteopetrosis, Autosomal Recessive 2

Genetic tests related to Osteopetrosis, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Osteopetrosis Autosomal Recessive 2 29 TNFSF11

Anatomical Context for Osteopetrosis, Autosomal Recessive 2

MalaCards organs/tissues related to Osteopetrosis, Autosomal Recessive 2:

41
Bone, Bone Marrow

Publications for Osteopetrosis, Autosomal Recessive 2

Articles related to Osteopetrosis, Autosomal Recessive 2:

# Title Authors Year
1
A comparison of osteoclast-rich and osteoclast-poor osteopetrosis in adult mice sheds light on the role of the osteoclast in coupling bone resorption and bone formation. ( 24838599 )
2014
2
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. ( 18606301 )
2008
3
Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor. ( 16294279 )
2005

Variations for Osteopetrosis, Autosomal Recessive 2

UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis, Autosomal Recessive 2:

75
# Symbol AA change Variation ID SNP ID
1 TNFSF11 p.Met199Lys VAR_037424 rs121909072

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TNFSF11 TNFSF11, 5-BP DEL, IVS7+4 deletion Pathogenic
2 TNFSF11 NM_033012.3(TNFSF11): c.377T> A (p.Met126Lys) single nucleotide variant Pathogenic rs121909072 GRCh37 Chromosome 13, 43180696: 43180696
3 TNFSF11 NM_033012.3(TNFSF11): c.377T> A (p.Met126Lys) single nucleotide variant Pathogenic rs121909072 GRCh38 Chromosome 13, 42606560: 42606560
4 TNFSF11 NM_033012.3(TNFSF11): c.609_610delCG (p.Val204Trpfs) deletion Pathogenic rs863223288 GRCh37 Chromosome 13, 43180928: 43180929
5 TNFSF11 NM_033012.3(TNFSF11): c.609_610delCG (p.Val204Trpfs) deletion Pathogenic rs863223288 GRCh38 Chromosome 13, 42606792: 42606793

Expression for Osteopetrosis, Autosomal Recessive 2

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Recessive 2.

Pathways for Osteopetrosis, Autosomal Recessive 2

GO Terms for Osteopetrosis, Autosomal Recessive 2

Sources for Osteopetrosis, Autosomal Recessive 2

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
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
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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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