OPTB2
MCID: OST129
MIFTS: 44

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

Aliases & Classifications for Osteopetrosis, Autosomal Recessive 2

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 2:

Name: Osteopetrosis, Autosomal Recessive 2 57 72 13
Autosomal Recessive Osteopetrosis 2 12 29 6 15
Optb2 57 12 20 72
Osteopetrosis, Mild Autosomal Recessive Form 57 70
Osteoclast-Poor Osteopetrosis 12 72
Mild Autosomal Recessive Form Osteopetrosis 12
Osteopetrosis, Autosomal Recessive, Type 2 39
Autosomal Recessive Osteopetrosis Type 2 20
Osteopetrosis Autosomal Recessive 2 20
Osteopetrosis, Osteoclast-Poor 57
Osteopetrosis Osteoclast-Poor 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
also a mild dominant form and a lethal recessive form


HPO:

31
osteopetrosis, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteopetrosis, Autosomal Recessive 2

GARD : 20 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 autosomal recessive osteopetrosis 2, is related to osteopetrosis, autosomal recessive 7 and bone resorption disease. An important gene associated with Osteopetrosis, Autosomal Recessive 2 is TNFSF11 (TNF Superfamily Member 11), and among its related pathways/superpathways are RANK Signaling in Osteoclasts and Ion channel transport. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are mandibular prognathia and carious teeth

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 : 72 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.

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 51)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 7 32.4 TNFSF11 TCIRG1 CLCN7
2 bone resorption disease 29.8 TNFSF11 NFATC1 CTSK ACP5
3 bone disease 29.0 TNFSF11 OSTM1 NFATC1 CTSK CLCN7 ACP5
4 osteopetrosis 28.8 TNFSF11 TCIRG1 PLEKHM1 OSTM1 NFATC1 CTSK
5 osteopetrosis, autosomal recessive 1 10.2 TCIRG1 CLCN7
6 hajdu-cheney syndrome 10.2 TNFSF11 NFATC1
7 west nile fever 10.1 DEFB105B DEFB105A
8 osteopetrosis, autosomal recessive 4 10.1 TNFSF11 TCIRG1 CLCN7
9 autosomal recessive malignant osteopetrosis 10.1 TNFSF11 TCIRG1 CLCN7
10 femoral cancer 10.1 TNFSF11 ACP5
11 congenital bile acid synthesis defect 10.1 DEFB105B DEFB105A
12 pigmented villonodular synovitis 10.1 TNFSF11 ACP5
13 immune deficiency disease 10.1
14 rapidly involuting congenital hemangioma 10.1
15 agammaglobulinemia 10.1
16 clcn7-related osteopetrosis 10.1
17 axial osteomalacia 10.1 TCIRG1 OSTM1 CLCN7
18 fibrogenesis imperfecta ossium 10.0 TCIRG1 OSTM1 CLCN7
19 glucocorticoid-induced osteoporosis 10.0 TNFSF11 ACP5
20 osteopetrosis, autosomal recessive 3 10.0 TCIRG1 OSTM1 CLCN7
21 craniodiaphyseal dysplasia 10.0 TCIRG1 PLEKHM1 CLCN7
22 root resorption 10.0 TNFSF11 CTSK
23 renal osteodystrophy 10.0 TNFSF11 ACP5
24 cherubism 10.0 TNFSF11 NFATC1
25 benign giant cell tumor 10.0 TNFSF11 CTSK
26 parathyroid gland disease 10.0 TNFSF11 ACP5
27 osteoporosis, juvenile 10.0 TNFSF11 CTSK
28 osteonecrosis 9.9 TNFSF11 NFATC1 ACP5
29 osteopetrosis, autosomal recessive 5 9.9 TNFSF11 TCIRG1 OSTM1 CLCN7
30 osteopetrosis, autosomal recessive 6 9.9 TNFSF11 TCIRG1 PLEKHM1 CLCN7
31 sclerosteosis 9.9 TNFSF11 CTSK
32 osteopetrosis, autosomal dominant 2 9.9 TNFSF11 TCIRG1 CLCN7 ACP5
33 periapical periodontitis 9.8 TNFSF11 CTSK ACP5
34 periodontitis 9.8 TNFSF11 CTSK ACP5
35 tooth resorption 9.8 TNFSF11 CTSK ACP5
36 bone benign neoplasm 9.8 TNFSF11 CTSK ACP5
37 multicentric carpotarsal osteolysis syndrome 9.8 TNFSF11 CTSK ACP5
38 bone giant cell tumor 9.8 TNFSF11 CTSK ACP5
39 mammary paget's disease 9.8 TNFSF11 CTSK ACP5
40 teeth hard tissue disease 9.8 TNFSF11 ACP5
41 brittle bone disorder 9.8 TNFSF11 CTSK ACP5
42 ischemic bone disease 9.7 TNFSF11 NFATC1 CTSK ACP5
43 osteomyelitis 9.6 TNFSF11 NFATC1 CTSK ACP5
44 osteochondrodysplasia 9.6 TNFSF11 CTSK CLCN7 ACP5
45 microphthalmia 9.6 TNFSF11 NFATC1 CTSK ACP5
46 craniometaphyseal dysplasia, autosomal dominant 9.4 TNFSF11 TCIRG1 PLEKHM1 OSTM1 CLCN7 ACP5
47 bone remodeling disease 9.3 TNFSF11 TCIRG1 NFATC1 CTSK CLCN7 ACP5
48 osteoporosis 9.3 TNFSF11 TCIRG1 NFATC1 CTSK CLCN7 ACP5
49 endosteal hyperostosis, autosomal dominant 9.1 TNFSF11 TCIRG1 OSTM1 NFATC1 CTSK CLCN7
50 pycnodysostosis 9.1 TNFSF11 TCIRG1 PLEKHM1 OSTM1 CTSK CLCN7

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:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 31 HP:0000303
2 carious teeth 31 HP:0000670
3 optic atrophy 31 HP:0000648
4 blindness 31 HP:0000618
5 anemia 31 HP:0001903
6 genu valgum 31 HP:0002857
7 thrombocytopenia 31 HP:0001873
8 recurrent fractures 31 HP:0002757
9 mandibular osteomyelitis 31 HP:0007626
10 osteopetrosis 31 HP:0011002
11 cranial hyperostosis 31 HP:0004437
12 pancytopenia 31 HP:0001876
13 hepatosplenomegaly 31 HP:0001433
14 persistence of primary teeth 31 HP:0006335
15 facial paralysis 31 HP:0007209
16 extramedullary hematopoiesis 31 HP:0001978
17 diaphyseal sclerosis 31 HP:0003034
18 chronic rhinitis due to narrow nasal airway 31 HP:0004499

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.86 CLCN7 CTSK NFATC1 OSTM1 PLEKHM1 RGS10
2 craniofacial MP:0005382 9.8 CLCN7 CTSK NFATC1 OSTM1 TCIRG1 TNFSF11
3 immune system MP:0005387 9.76 CLCN7 CTSK NFATC1 OSTM1 PLEKHM1 RGS10
4 limbs/digits/tail MP:0005371 9.56 CLCN7 CTSK NFATC1 OSTM1 PLEKHM1 RGS10
5 skeleton MP:0005390 9.23 CLCN7 CTSK NFATC1 OSTM1 PLEKHM1 RGS10

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 29 TNFSF11

Anatomical Context for Osteopetrosis, Autosomal Recessive 2

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

40
Bone, Bone Marrow, Eye, Liver

Publications for Osteopetrosis, Autosomal Recessive 2

Articles related to Osteopetrosis, Autosomal Recessive 2:

# Title Authors PMID Year
1
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. 6 57
17632511 2007
2
A mild autosomal recessive form of osteopetrosis. 57
6702897 1984
3
Osteopetrosis: further heterogeneity. 57
7420221 1980
4
Genetic disorders associated with the RANKL/OPG/RANK pathway. 61
32940787 2021

Variations for Osteopetrosis, Autosomal Recessive 2

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 2:

6 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNFSF11 TNFSF11, 5-BP DEL, IVS7+4 Deletion Pathogenic 6973 GRCh37:
GRCh38:
2 TNFSF11 NM_003701.4(TNFSF11):c.596T>A (p.Met199Lys) SNV Pathogenic 6974 rs121909072 GRCh37: 13:43180696-43180696
GRCh38: 13:42606560-42606560
3 TNFSF11 NM_003701.4(TNFSF11):c.828_829del (p.Val277fs) Deletion Pathogenic 6975 rs863223288 GRCh37: 13:43180928-43180929
GRCh38: 13:42606792-42606793
4 TNFSF11 NM_003701.4(TNFSF11):c.534T>C (p.Gly178=) SNV Uncertain significance 312235 rs146484645 GRCh37: 13:43180634-43180634
GRCh38: 13:42606498-42606498
5 TNFSF11 NM_003701.4(TNFSF11):c.*152A>G SNV Uncertain significance 312241 rs886050254 GRCh37: 13:43181206-43181206
GRCh38: 13:42607070-42607070
6 TNFSF11 NM_003701.4(TNFSF11):c.*554A>G SNV Uncertain significance 312247 rs200749870 GRCh37: 13:43181608-43181608
GRCh38: 13:42607472-42607472
7 TNFSF11 NM_003701.4(TNFSF11):c.-64C>G SNV Uncertain significance 312225 rs886050251 GRCh37: 13:43148376-43148376
GRCh38: 13:42574240-42574240
8 TNFSF11 NM_003701.4(TNFSF11):c.98C>A (p.Pro33Gln) SNV Uncertain significance 312228 rs200250962 GRCh37: 13:43148537-43148537
GRCh38: 13:42574401-42574401
9 TNFSF11 NM_003701.4(TNFSF11):c.403G>A (p.Val135Ile) SNV Uncertain significance 312233 rs201389502 GRCh37: 13:43174903-43174903
GRCh38: 13:42600767-42600767
10 TNFSF11 NM_003701.4(TNFSF11):c.*159G>A SNV Uncertain significance 312242 rs186999111 GRCh37: 13:43181213-43181213
GRCh38: 13:42607077-42607077
11 TNFSF11 NM_003701.4(TNFSF11):c.-144G>C SNV Uncertain significance 312220 rs201859220 GRCh37: 13:43148296-43148296
GRCh38: 13:42574160-42574160
12 TNFSF11 NM_003701.4(TNFSF11):c.911A>G (p.Asp304Gly) SNV Uncertain significance 312236 rs760748407 GRCh37: 13:43181011-43181011
GRCh38: 13:42606875-42606875
13 TNFSF11 NM_003701.4(TNFSF11):c.-81C>A SNV Uncertain significance 312223 rs200647526 GRCh37: 13:43148359-43148359
GRCh38: 13:42574223-42574223
14 TNFSF11 NM_003701.4(TNFSF11):c.*94T>G SNV Uncertain significance 312239 rs886050252 GRCh37: 13:43181148-43181148
GRCh38: 13:42607012-42607012
15 TNFSF11 NM_003701.4(TNFSF11):c.-4C>T SNV Uncertain significance 312226 rs781185506 GRCh37: 13:43148436-43148436
GRCh38: 13:42574300-42574300
16 TNFSF11 NM_003701.4(TNFSF11):c.148G>A (p.Val50Met) SNV Uncertain significance 312230 rs779371056 GRCh37: 13:43148587-43148587
GRCh38: 13:42574451-42574451
17 TNFSF11 NM_003701.4(TNFSF11):c.*357C>T SNV Uncertain significance 312245 rs192340175 GRCh37: 13:43181411-43181411
GRCh38: 13:42607275-42607275
18 TNFSF11 NM_003701.4(TNFSF11):c.254A>T (p.His85Leu) SNV Uncertain significance 312232 rs199910582 GRCh37: 13:43155296-43155296
GRCh38: 13:42581160-42581160
19 TNFSF11 NM_003701.4(TNFSF11):c.-74C>T SNV Uncertain significance 312224 rs569615616 GRCh37: 13:43148366-43148366
GRCh38: 13:42574230-42574230
20 TNFSF11 NM_003701.4(TNFSF11):c.*113G>A SNV Uncertain significance 312240 rs886050253 GRCh37: 13:43181167-43181167
GRCh38: 13:42607031-42607031
21 TNFSF11 NM_003701.4(TNFSF11):c.424G>A (p.Ala142Thr) SNV Uncertain significance 312234 rs199529587 GRCh37: 13:43174924-43174924
GRCh38: 13:42600788-42600788
22 TNFSF11 NM_003701.4(TNFSF11):c.-104C>T SNV Uncertain significance 880855 GRCh37: 13:43148336-43148336
GRCh38: 13:42574200-42574200
23 TNFSF11 NM_003701.4(TNFSF11):c.-94C>T SNV Uncertain significance 880856 GRCh37: 13:43148346-43148346
GRCh38: 13:42574210-42574210
24 TNFSF11 NM_003701.4(TNFSF11):c.-7G>C SNV Uncertain significance 880857 GRCh37: 13:43148433-43148433
GRCh38: 13:42574297-42574297
25 TNFSF11 NM_003701.4(TNFSF11):c.851G>A (p.Arg284Gln) SNV Uncertain significance 498497 rs61761332 GRCh37: 13:43180951-43180951
GRCh38: 13:42606815-42606815
26 TNFSF11 NM_003701.4(TNFSF11):c.*119C>T SNV Uncertain significance 880912 GRCh37: 13:43181173-43181173
GRCh38: 13:42607037-42607037
27 TNFSF11 NM_003701.4(TNFSF11):c.420C>G (p.Ile140Met) SNV Uncertain significance 882482 GRCh37: 13:43174920-43174920
GRCh38: 13:42600784-42600784
28 TNFSF11 NM_003701.4(TNFSF11):c.*667A>G SNV Uncertain significance 882546 GRCh37: 13:43181721-43181721
GRCh38: 13:42607585-42607585
29 TNFSF11 NM_003701.4(TNFSF11):c.*754A>C SNV Uncertain significance 882547 GRCh37: 13:43181808-43181808
GRCh38: 13:42607672-42607672
30 TNFSF11 NM_003701.4(TNFSF11):c.*788T>C SNV Uncertain significance 882548 GRCh37: 13:43181842-43181842
GRCh38: 13:42607706-42607706
31 TNFSF11 NM_003701.4(TNFSF11):c.-147C>T SNV Uncertain significance 884144 GRCh37: 13:43148293-43148293
GRCh38: 13:42574157-42574157
32 TNFSF11 NM_003701.4(TNFSF11):c.433+13C>G SNV Uncertain significance 884196 GRCh37: 13:43174946-43174946
GRCh38: 13:42600810-42600810
33 TNFSF11 NM_003701.4(TNFSF11):c.435G>A (p.Ala145=) SNV Uncertain significance 884197 GRCh37: 13:43175020-43175020
GRCh38: 13:42600884-42600884
34 TNFSF11 NM_003701.4(TNFSF11):c.520G>A (p.Asp174Asn) SNV Uncertain significance 884198 GRCh37: 13:43175105-43175105
GRCh38: 13:42600969-42600969
35 TNFSF11 NM_003701.4(TNFSF11):c.533-8C>T SNV Uncertain significance 884199 GRCh37: 13:43180625-43180625
GRCh38: 13:42606489-42606489
36 TNFSF11 NM_003701.4(TNFSF11):c.618A>G (p.Leu206=) SNV Uncertain significance 884200 GRCh37: 13:43180718-43180718
GRCh38: 13:42606582-42606582
37 TNFSF11 NM_003701.4(TNFSF11):c.845A>C (p.Lys282Thr) SNV Uncertain significance 884201 GRCh37: 13:43180945-43180945
GRCh38: 13:42606809-42606809
38 TNFSF11 NM_003701.4(TNFSF11):c.849A>G (p.Leu283=) SNV Uncertain significance 884202 GRCh37: 13:43180949-43180949
GRCh38: 13:42606813-42606813
39 TNFSF11 NM_003701.4(TNFSF11):c.83G>A (p.Gly28Asp) SNV Uncertain significance 501658 rs201652399 GRCh37: 13:43148522-43148522
GRCh38: 13:42574386-42574386
40 TNFSF11 NM_003701.4(TNFSF11):c.*158C>T SNV Uncertain significance 882279 GRCh37: 13:43181212-43181212
GRCh38: 13:42607076-42607076
41 TNFSF11 NM_003701.4(TNFSF11):c.*221G>C SNV Uncertain significance 882280 GRCh37: 13:43181275-43181275
GRCh38: 13:42607139-42607139
42 TNFSF11 NM_003701.4(TNFSF11):c.*242A>G SNV Uncertain significance 882281 GRCh37: 13:43181296-43181296
GRCh38: 13:42607160-42607160
43 TNFSF11 NM_003701.4(TNFSF11):c.*261G>A SNV Uncertain significance 882282 GRCh37: 13:43181315-43181315
GRCh38: 13:42607179-42607179
44 TNFSF11 NM_003701.4(TNFSF11):c.*745T>C SNV Likely benign 312250 rs12721444 GRCh37: 13:43181799-43181799
GRCh38: 13:42607663-42607663
45 TNFSF11 NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr) SNV Likely benign 193255 rs142756983 GRCh37: 13:43148653-43148653
GRCh38: 13:42574517-42574517
46 TNFSF11 NM_003701.4(TNFSF11):c.45G>A (p.Ser15=) SNV Likely benign 312227 rs200121871 GRCh37: 13:43148484-43148484
GRCh38: 13:42574348-42574348
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.107C>G (p.Pro36Arg) SNV Likely benign 312229 rs138818878 GRCh37: 13:43148546-43148546
GRCh38: 13:42574410-42574410
49 TNFSF11 NM_003701.4(TNFSF11):c.*704G>A SNV Benign 312248 rs34886516 GRCh37: 13:43181758-43181758
GRCh38: 13:42607622-42607622
50 TNFSF11 NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) SNV Benign 312231 rs138974661 GRCh37: 13:43155281-43155281
GRCh38: 13:42581145-42581145

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

72
# 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
12.14 TNFSF11 NFATC1 CTSK ACP5
2
Show member pathways
11.99 TCIRG1 OSTM1 CLCN7
3 11.44 TCIRG1 CTSK ACP5
4 11.23 TNFSF11 TCIRG1 CTSK ACP5
5 10 TNFSF11 CTSK ACP5

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 9.26 TCIRG1 PLEKHM1 OSTM1 CLCN7
2 lysosome GO:0005764 9.1 TCIRG1 PLEKHM1 OSTM1 CTSK CLCN7 ACP5

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

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.58 TCIRG1 OSTM1 CLCN7
2 ossification GO:0001503 9.5 TNFSF11 TCIRG1 ACP5
3 positive regulation of bone resorption GO:0045780 9.37 TNFSF11 PLEKHM1
4 tooth eruption GO:0044691 9.26 TNFSF11 TCIRG1
5 osteoclast proliferation GO:0002158 9.16 TNFSF11 TCIRG1
6 osteoclast differentiation GO:0030316 9.13 TNFSF11 TCIRG1 OSTM1
7 bone resorption GO:0045453 8.92 TNFSF11 TCIRG1 CTSK ACP5

Sources for Osteopetrosis, Autosomal Recessive 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....