OPTB2
MCID: OST129
MIFTS: 48

Osteopetrosis, Autosomal Recessive 2 (OPTB2)

Categories: Blood diseases, Bone diseases, Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Osteopetrosis, Autosomal Recessive 2

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 2:

Name: Osteopetrosis, Autosomal Recessive 2 57 73 12
Autosomal Recessive Osteopetrosis 2 11 28 5 14
Optb2 57 11 19 73
Osteopetrosis, Mild Autosomal Recessive Form 57 71
Osteoclast-Poor Osteopetrosis 11 73
Mild Autosomal Recessive Form Osteopetrosis 11
Osteopetrosis, Autosomal Recessive, Type 2 38
Autosomal Recessive Osteopetrosis Type 2 19
Osteopetrosis Autosomal Recessive 2 19
Osteopetrosis, Osteoclast-Poor 57
Osteopetrosis Osteoclast-Poor 19

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



Summaries for Osteopetrosis, Autosomal Recessive 2

GARD: 19 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 serious 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 pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by genetic changes in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive.

MalaCards based summary: Osteopetrosis, Autosomal Recessive 2, also known as autosomal recessive osteopetrosis 2, is related to osteopetrosis, autosomal recessive 7 and dysosteosclerosis. An important gene associated with Osteopetrosis, Autosomal Recessive 2 is TNFSF11 (TNF Superfamily Member 11), and among its related pathways/superpathways are BAFF in B-Cell Signaling and Clock-controlled autophagy in bone metabolism. Affiliated tissues include bone, bone marrow and blood and bone marrow, and related phenotypes are mandibular prognathia and carious teeth

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the TNFSF11 gene on chromosome 13q14.

More information from OMIM: 259710 PS259700

Related Diseases for Osteopetrosis, Autosomal Recessive 2

Diseases in the Osteopetrosis family:

Osteopetrosis, Autosomal Dominant 2 Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 2 Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Autosomal Recessive 3 Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Autosomal Recessive 4 Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 7 Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Autosomal Dominant 3 Clcn7-Related Osteopetrosis
Autosomal Recessive Malignant Osteopetrosis

Diseases related to Osteopetrosis, Autosomal Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 7 32.4 TNFRSF11A TCIRG1 CLCN7
2 dysosteosclerosis 30.4 TNFRSF11A TCIRG1
3 bone resorption disease 30.0 TNFSF11 NFATC1 CTSK ACP5
4 osteomyelitis 29.5 TNFSF11 TNFRSF11A NFATC1 CTSK ACP5
5 bone disease 28.8 TNFSF11 TNFRSF11A OSTM1 NFATC1 CTSK CSF1
6 osteopetrosis 27.3 TNFSF11 TNFRSF11A TCIRG1 SNX10 PLEKHM1 OSTM1
7 agammaglobulinemia, x-linked 10.2
8 agammaglobulinemia 10.2
9 osteopetrosis, autosomal recessive 1 10.2 TCIRG1 CLCN7
10 paget disease of bone 5, juvenile-onset 10.2 TNFSF11 TNFRSF11A
11 beach ear 10.2 TCIRG1 CLCN7
12 chronic apical periodontitis 10.2 TNFSF11 NFATC1
13 osteopetrosis, autosomal dominant 1 10.2 TNFRSF11A CLCN7
14 giant cell reparative granuloma 10.1 TNFSF11 TNFRSF11A
15 malignant giant cell tumor 10.1 TNFSF11 ACP5
16 femoral cancer 10.1 TNFSF11 ACP5
17 multiple cranial nerve palsy 10.1 CLCN7 CA2
18 axial osteomalacia 10.1 TCIRG1 OSTM1 CLCN7
19 root resorption 10.1 TNFSF11 TNFRSF11A
20 fibrogenesis imperfecta ossium 10.1 TCIRG1 OSTM1 CLCN7
21 osteopetrosis, autosomal recessive 5 10.1 TCIRG1 OSTM1 CLCN7
22 osteopetrosis, autosomal recessive 4 10.1 TCIRG1 OSTM1 CLCN7
23 adult syndrome 10.1
24 immune deficiency disease 10.1
25 rapidly involuting congenital hemangioma 10.1
26 clcn7-related osteopetrosis 10.1
27 osteopetrosis, autosomal recessive 8 10.0 TCIRG1 SNX10 CLCN7
28 pigmented villonodular synovitis 10.0 TNFSF11 CSF1
29 enchondromatosis, multiple, ollier type 10.0 TNFSF11 ACP5
30 van buchem disease 10.0 TNFSF11 CTSK
31 distal renal tubular acidosis 10.0 TCIRG1 CA2
32 renal osteodystrophy 10.0 TNFSF11 ACP5
33 osteopetrosis, autosomal recessive 6 10.0 TNFSF11 TCIRG1 PLEKHM1 CLCN7
34 autosomal recessive malignant osteopetrosis 9.9 TNFSF11 TCIRG1 SNX10 CLCN7
35 nodular tenosynovitis 9.9 CSF1 ACP5
36 parathyroid gland disease 9.9 TNFSF11 ACP5
37 periapical periodontitis 9.9 TNFSF11 CTSK ACP5
38 periodontitis 9.9 TNFSF11 CTSK ACP5
39 sclerosteosis 9.9 TNFSF11 CTSK ACP5
40 cherubism 9.9 TNFSF11 NFATC1 CSF1
41 connective tissue benign neoplasm 9.9 TNFSF11 CSF1
42 synovitis 9.8 TNFSF11 CSF1 ACP5
43 osteoporosis, juvenile 9.8 TNFSF11 CTSK
44 tooth resorption 9.7 TNFSF11 TNFRSF11A CTSK ACP5
45 osteochondrodysplasia 9.7 TNFSF11 CTSK CLCN7 ACP5
46 glucocorticoid-induced osteoporosis 9.7 TNFSF11 NFATC1 CTSK ACP5
47 ischemic bone disease 9.7 TNFSF11 NFATC1 CTSK ACP5
48 microphthalmia 9.7 TNFSF11 NFATC1 CTSK ACP5
49 scoliosis 9.7 TNFSF11 TNFRSF11A CTSK ACP5
50 brittle bone disorder 9.6 TNFSF11 TNFRSF11A CTSK CLCN7 ACP5

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

Human phenotypes related to Osteopetrosis, Autosomal Recessive 2:

30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 30 HP:0000303
2 carious teeth 30 HP:0000670
3 optic atrophy 30 HP:0000648
4 blindness 30 HP:0000618
5 anemia 30 HP:0001903
6 genu valgum 30 HP:0002857
7 thrombocytopenia 30 HP:0001873
8 recurrent fractures 30 HP:0002757
9 mandibular osteomyelitis 30 HP:0007626
10 cranial hyperostosis 30 HP:0004437
11 pancytopenia 30 HP:0001876
12 hepatosplenomegaly 30 HP:0001433
13 persistence of primary teeth 30 HP:0006335
14 osteopetrosis 30 HP:0011002
15 facial paralysis 30 HP:0007209
16 extramedullary hematopoiesis 30 HP:0001978
17 diaphyseal sclerosis 30 HP:0003034
18 chronic rhinitis due to narrow nasal airway 30 HP:0004499

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Eyes:
optic atrophy
early blindness

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

G I:
hepatosplenomegaly

Nose:
chronic rhinitis due to narrow nasal airway

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

Heme:
anemia
thrombocytopenia
pancytopenia
extramedullary hematopoiesis

Skull:
cranial hyperostosis

Limbs:
diaphyseal sclerosis

Mandible:
mandibular prognathism

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

Clinical features from OMIM®:

259710 (Updated 24-Oct-2022)

GenomeRNAi Phenotypes related to Osteopetrosis, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with imatinib mesylate GR00181-A 8.92 CA2 NFATC1 PLEKHM1 SNX10

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 2:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 10.27 ACP5 CLCN7 CSF1 CTSK LRRK1 NFATC1
2 homeostasis/metabolism MP:0005376 10.26 CA2 CLCN7 CSF1 CTSK LRRK1 NFATC1
3 growth/size/body region MP:0005378 10.23 CA2 CLCN7 CSF1 CTSK LRRK1 NFATC1
4 immune system MP:0005387 10.18 ACP5 CA2 CLCN7 CSF1 CTSK LRRK1
5 craniofacial MP:0005382 10.1 CLCN7 CSF1 CTSK LRRK1 NFATC1 OSTM1
6 skeleton MP:0005390 10.07 ACP5 CA2 CLCN7 CSF1 CTSK LRRK1
7 endocrine/exocrine gland MP:0005379 9.98 CA2 CSF1 CTSK SNX10 TCIRG1 TNFRSF11A
8 respiratory system MP:0005388 9.87 CA2 CLCN7 CSF1 CTSK NFATC1 TNFRSF11A
9 hematopoietic system MP:0005397 9.73 ACP5 CLCN7 CSF1 CTSK LRRK1 NFATC1
10 vision/eye MP:0005391 9.7 CLCN7 CSF1 LRRK1 OSTM1 PLEKHM1 SNX10
11 mortality/aging MP:0010768 9.32 CA2 CLCN7 CSF1 LRRK1 NFATC1 OSTM1

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 Autosomal Recessive Osteopetrosis 2 28 TNFSF11

Anatomical Context for Osteopetrosis, Autosomal Recessive 2

Organs/tissues related to Osteopetrosis, Autosomal Recessive 2:

MalaCards : Bone, Bone Marrow
ODiseA: Blood And Bone Marrow

Publications for Osteopetrosis, Autosomal Recessive 2

Articles related to Osteopetrosis, Autosomal Recessive 2:

(show all 13)
# Title Authors PMID Year
1
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. 57 5
17632511 2007
2
RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease. 5
23762088 2013
3
A mild autosomal recessive form of osteopetrosis. 57
6702897 1984
4
Osteopetrosis: further heterogeneity. 57
7420221 1980
5
Osteoclast-poor osteopetrosis. 62
36031188 2022
6
Genetic disorders associated with the RANKL/OPG/RANK pathway. 62
32940787 2021
7
A Rare Case of Osteoclast-poor Osteopetrosis (RANKL Mutation) with Recurrent Osteomyelitis of Mandible: A Case Report. 62
33976500 2020
8
RANK receptor oligomerisation in the regulation of NFκB signalling. 62
24859969 2014
9
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. 62
24838599 2014
10
Infant cynomolgus monkeys exposed to denosumab in utero exhibit an osteoclast-poor osteopetrotic-like skeletal phenotype at birth and in the early postnatal period. 62
24727159 2014
11
RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations. 62
22271396 2012
12
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. 62
18606301 2008
13
Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor. 62
16294279 2005

Variations for Osteopetrosis, Autosomal Recessive 2

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 2:

5 (show top 50) (show all 65)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNFSF11 NM_003701.4(TNFSF11):c.596T>A (p.Met199Lys) SNV Pathogenic
6974 rs121909072 GRCh37: 13:43180696-43180696
GRCh38: 13:42606560-42606560
2 TNFSF11 NM_003701.4(TNFSF11):c.828_829del (p.Val277fs) DEL Pathogenic
6975 rs863223288 GRCh37: 13:43180928-43180929
GRCh38: 13:42606792-42606793
3 TNFSF11 NM_003701.4(TNFSF11):c.929del (p.Ala310fs) DEL Pathogenic
1684676 GRCh37: 13:43181029-43181029
GRCh38: 13:42606893-42606893
4 TNFSF11 NM_003701.4(TNFSF11):c.532+4_532+8del DEL Pathogenic
6973 GRCh37: 13:43175121-43175125
GRCh38: 13:42600985-42600989
5 TNFSF11 NM_003701.4(TNFSF11):c.667C>T (p.Arg223Ter) SNV Likely Pathogenic
1526053 rs267603829 GRCh37: 13:43180767-43180767
GRCh38: 13:42606631-42606631
6 TNFSF11 NM_003701.4(TNFSF11):c.420C>G (p.Ile140Met) SNV Uncertain Significance
882482 rs189501562 GRCh37: 13:43174920-43174920
GRCh38: 13:42600784-42600784
7 TNFSF11 NM_003701.4(TNFSF11):c.435G>A (p.Ala145=) SNV Uncertain Significance
884197 rs775866494 GRCh37: 13:43175020-43175020
GRCh38: 13:42600884-42600884
8 TNFSF11 NM_003701.4(TNFSF11):c.533-8C>T SNV Uncertain Significance
884199 rs1869458758 GRCh37: 13:43180625-43180625
GRCh38: 13:42606489-42606489
9 TNFSF11 NM_003701.4(TNFSF11):c.845A>C (p.Lys282Thr) SNV Uncertain Significance
884201 rs201151635 GRCh37: 13:43180945-43180945
GRCh38: 13:42606809-42606809
10 TNFSF11 NM_003701.4(TNFSF11):c.534T>C (p.Gly178=) SNV Uncertain Significance
312235 rs146484645 GRCh37: 13:43180634-43180634
GRCh38: 13:42606498-42606498
11 TNFSF11 NM_003701.4(TNFSF11):c.98C>A (p.Pro33Gln) SNV Uncertain Significance
312228 rs200250962 GRCh37: 13:43148537-43148537
GRCh38: 13:42574401-42574401
12 TNFSF11 NM_003701.4(TNFSF11):c.403G>A (p.Val135Ile) SNV Uncertain Significance
312233 rs201389502 GRCh37: 13:43174903-43174903
GRCh38: 13:42600767-42600767
13 TNFSF11 NM_003701.4(TNFSF11):c.424G>A (p.Ala142Thr) SNV Uncertain Significance
312234 rs199529587 GRCh37: 13:43174924-43174924
GRCh38: 13:42600788-42600788
14 TNFSF11 NM_003701.4(TNFSF11):c.*357C>T SNV Uncertain Significance
312245 rs192340175 GRCh37: 13:43181411-43181411
GRCh38: 13:42607275-42607275
15 TNFSF11 NM_003701.4(TNFSF11):c.254A>T (p.His85Leu) SNV Uncertain Significance
312232 rs199910582 GRCh37: 13:43155296-43155296
GRCh38: 13:42581160-42581160
16 TNFSF11 NM_003701.4(TNFSF11):c.-74C>T SNV Uncertain Significance
312224 rs569615616 GRCh37: 13:43148366-43148366
GRCh38: 13:42574230-42574230
17 TNFSF11 NM_003701.4(TNFSF11):c.*113G>A SNV Uncertain Significance
312240 rs886050253 GRCh37: 13:43181167-43181167
GRCh38: 13:42607031-42607031
18 TNFSF11 NM_003701.4(TNFSF11):c.*152A>G SNV Uncertain Significance
312241 rs886050254 GRCh37: 13:43181206-43181206
GRCh38: 13:42607070-42607070
19 TNFSF11 NM_003701.4(TNFSF11):c.*554A>G SNV Uncertain Significance
312247 rs200749870 GRCh37: 13:43181608-43181608
GRCh38: 13:42607472-42607472
20 TNFSF11 NM_003701.4(TNFSF11):c.-64C>G SNV Uncertain Significance
312225 rs886050251 GRCh37: 13:43148376-43148376
GRCh38: 13:42574240-42574240
21 TNFSF11 NM_003701.4(TNFSF11):c.*159G>A SNV Uncertain Significance
312242 rs186999111 GRCh37: 13:43181213-43181213
GRCh38: 13:42607077-42607077
22 TNFSF11 NM_003701.4(TNFSF11):c.-144G>C SNV Uncertain Significance
312220 rs201859220 GRCh37: 13:43148296-43148296
GRCh38: 13:42574160-42574160
23 TNFSF11 NM_003701.4(TNFSF11):c.911A>G (p.Asp304Gly) SNV Uncertain Significance
312236 rs760748407 GRCh37: 13:43181011-43181011
GRCh38: 13:42606875-42606875
24 TNFSF11 NM_003701.4(TNFSF11):c.-81C>A SNV Uncertain Significance
312223 rs200647526 GRCh37: 13:43148359-43148359
GRCh38: 13:42574223-42574223
25 TNFSF11 NM_003701.4(TNFSF11):c.*94T>G SNV Uncertain Significance
312239 rs886050252 GRCh37: 13:43181148-43181148
GRCh38: 13:42607012-42607012
26 TNFSF11 NM_003701.4(TNFSF11):c.-4C>T SNV Uncertain Significance
312226 rs781185506 GRCh37: 13:43148436-43148436
GRCh38: 13:42574300-42574300
27 TNFSF11 NM_003701.4(TNFSF11):c.148G>A (p.Val50Met) SNV Uncertain Significance
312230 rs779371056 GRCh37: 13:43148587-43148587
GRCh38: 13:42574451-42574451
28 TNFSF11 NM_003701.4(TNFSF11):c.-104C>T SNV Uncertain Significance
880855 rs1873181204 GRCh37: 13:43148336-43148336
GRCh38: 13:42574200-42574200
29 TNFSF11 NM_003701.4(TNFSF11):c.-94C>T SNV Uncertain Significance
880856 rs199818393 GRCh37: 13:43148346-43148346
GRCh38: 13:42574210-42574210
30 TNFSF11 NM_003701.4(TNFSF11):c.-7G>C SNV Uncertain Significance
880857 rs998463381 GRCh37: 13:43148433-43148433
GRCh38: 13:42574297-42574297
31 TNFSF11 NM_003701.4(TNFSF11):c.851G>A (p.Arg284Gln) SNV Uncertain Significance
498497 rs61761332 GRCh37: 13:43180951-43180951
GRCh38: 13:42606815-42606815
32 TNFSF11 NM_003701.4(TNFSF11):c.*119C>T SNV Uncertain Significance
880912 rs200387399 GRCh37: 13:43181173-43181173
GRCh38: 13:42607037-42607037
33 TNFSF11 NM_003701.4(TNFSF11):c.83G>A (p.Gly28Asp) SNV Uncertain Significance
501658 rs201652399 GRCh37: 13:43148522-43148522
GRCh38: 13:42574386-42574386
34 TNFSF11 NM_003701.4(TNFSF11):c.*158C>T SNV Uncertain Significance
882279 rs200754328 GRCh37: 13:43181212-43181212
GRCh38: 13:42607076-42607076
35 TNFSF11 NM_003701.4(TNFSF11):c.*221G>C SNV Uncertain Significance
882280 rs1315042884 GRCh37: 13:43181275-43181275
GRCh38: 13:42607139-42607139
36 TNFSF11 NM_003701.4(TNFSF11):c.*242A>G SNV Uncertain Significance
882281 rs1594485076 GRCh37: 13:43181296-43181296
GRCh38: 13:42607160-42607160
37 TNFSF11 NM_003701.4(TNFSF11):c.*261G>A SNV Uncertain Significance
882282 rs995293287 GRCh37: 13:43181315-43181315
GRCh38: 13:42607179-42607179
38 TNFSF11 NM_003701.4(TNFSF11):c.*667A>G SNV Uncertain Significance
882546 rs12584726 GRCh37: 13:43181721-43181721
GRCh38: 13:42607585-42607585
39 TNFSF11 NM_003701.4(TNFSF11):c.*754A>C SNV Uncertain Significance
882547 rs924942406 GRCh37: 13:43181808-43181808
GRCh38: 13:42607672-42607672
40 TNFSF11 NM_003701.4(TNFSF11):c.*788T>C SNV Uncertain Significance
882548 rs200189539 GRCh37: 13:43181842-43181842
GRCh38: 13:42607706-42607706
41 TNFSF11 NM_003701.4(TNFSF11):c.-147C>T SNV Uncertain Significance
884144 rs1873177411 GRCh37: 13:43148293-43148293
GRCh38: 13:42574157-42574157
42 TNFSF11 NM_003701.4(TNFSF11):c.433+13C>G SNV Uncertain Significance
884196 rs1869132236 GRCh37: 13:43174946-43174946
GRCh38: 13:42600810-42600810
43 TNFSF11 NM_003701.4(TNFSF11):c.520G>A (p.Asp174Asn) SNV Uncertain Significance
884198 rs746313384 GRCh37: 13:43175105-43175105
GRCh38: 13:42600969-42600969
44 TNFSF11 NM_003701.4(TNFSF11):c.618A>G (p.Leu206=) SNV Uncertain Significance
884200 rs770524066 GRCh37: 13:43180718-43180718
GRCh38: 13:42606582-42606582
45 TNFSF11 NM_003701.4(TNFSF11):c.849A>G (p.Leu283=) SNV Uncertain Significance
884202 rs199769531 GRCh37: 13:43180949-43180949
GRCh38: 13:42606813-42606813
46 TNFSF11 NM_003701.4(TNFSF11):c.*745T>C SNV Likely Benign
312250 rs12721444 GRCh37: 13:43181799-43181799
GRCh38: 13:42607663-42607663
47 TNFSF11 NM_003701.4(TNFSF11):c.-141C>T SNV Likely Benign
312221 rs45468495 GRCh37: 13:43148299-43148299
GRCh38: 13:42574163-42574163
48 TNFSF11 NM_003701.4(TNFSF11):c.45G>A (p.Ser15=) SNV Likely Benign
312227 rs200121871 GRCh37: 13:43148484-43148484
GRCh38: 13:42574348-42574348
49 TNFSF11 NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr) SNV Likely Benign
193255 rs142756983 GRCh37: 13:43148653-43148653
GRCh38: 13:42574517-42574517
50 TNFSF11 NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg) SNV Likely Benign
312229 rs138818878 GRCh37: 13:43148546-43148546
GRCh38: 13:42574410-42574410

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

73
# Symbol AA change Variation ID SNP ID
1 TNFSF11 p.Met199Lys VAR_037424 rs121909072

Expression for Osteopetrosis, Autosomal Recessive 2

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

Pathways for Osteopetrosis, Autosomal Recessive 2

Pathways related to Osteopetrosis, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.72 TNFSF11 TNFRSF11A NFATC1
2 11.34 TNFSF11 TNFRSF11A PLEKHM1 NFATC1 CTSK CSF1
3 11.09 TNFSF11 CSF1
4 10.99 TNFSF11 TNFRSF11A CA2
5 10.89 TNFSF11 TNFRSF11A
6 10.83 TNFSF11 TNFRSF11A
7 10.21 TNFSF11 TNFRSF11A TCIRG1 SNX10 PLEKHM1 OSTM1

GO Terms for Osteopetrosis, Autosomal Recessive 2

Cellular components related to Osteopetrosis, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.56 TCIRG1 PLEKHM1 OSTM1 CLCN7
2 lysosome GO:0005764 9.28 TCIRG1 PLEKHM1 OSTM1 CTSK CLCN7 ACP5

Biological processes related to Osteopetrosis, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 10.02 TNFRSF11A CTSK CSF1
2 ossification GO:0001503 9.97 CSF1 TCIRG1 TNFRSF11A TNFSF11
3 positive regulation of osteoclast differentiation GO:0045672 9.87 TNFSF11 CSF1
4 mammary gland alveolus development GO:0060749 9.86 TNFSF11 TNFRSF11A
5 positive regulation of intracellular signal transduction GO:1902533 9.84 TNFSF11 LRRK1
6 transepithelial chloride transport GO:0030321 9.83 CLCN7 OSTM1
7 cellular response to zinc ion starvation GO:0034224 9.81 CTSK TNFRSF11A
8 osteoclast development GO:0036035 9.8 TNFSF11 LRRK1
9 positive regulation of bone resorption GO:0045780 9.8 TNFSF11 TNFRSF11A PLEKHM1
10 TNFSF11-mediated signaling pathway GO:0071847 9.78 TNFSF11 TNFRSF11A
11 mononuclear cell differentiation GO:1903131 9.76 NFATC1 CTSK
12 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.73 TNFSF11 TNFRSF11A
13 tooth eruption GO:0044691 9.73 TNFSF11 TCIRG1 SNX10
14 osteoclast differentiation GO:0030316 9.73 CSF1 OSTM1 SNX10 TCIRG1 TNFRSF11A TNFSF11
15 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.71 TNFSF11 TNFRSF11A
16 osteoclast proliferation GO:0002158 9.63 TNFSF11 TCIRG1 CSF1
17 bone resorption GO:0045453 9.4 TNFSF11 TCIRG1 SNX10 LRRK1 CTSK ACP5

Sources for Osteopetrosis, Autosomal Recessive 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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