Osteopetrosis, Autosomal Recessive 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Bone diseases Eye diseases Nephrological diseases Blood diseases Neuronal diseases Immune diseases Ear diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110943

OMIM® ⁵⁷ 259710

OMIM Phenotypic Series ⁵⁷ PS259700

MeSH ⁴⁴ D010022

MedGen ⁴¹ C1850126

UMLS ⁷⁰ C1850126

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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

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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:

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Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 2

Human phenotypes related to Osteopetrosis, Autosomal Recessive 2:

³¹ (show all 18)

#	Description	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

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Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 2

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

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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

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Anatomical Context for Osteopetrosis, Autosomal Recessive 2

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

⁴⁰

Bone, Bone Marrow, Eye, Liver

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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	Sobacchi C...Helfrich MH	17632511	2007
2	A mild autosomal recessive form of osteopetrosis. ⁵⁷	Kahler SG...Aylsworth AS	6702897	1984
3	Osteopetrosis: further heterogeneity. ⁵⁷	Horton WA...Iyama T	7420221	1980
4	Genetic disorders associated with the RANKL/OPG/RANK pathway. ⁶¹	Xue JY...Guo L	32940787	2021

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Genes for Osteopetrosis, Autosomal Recessive 2

Genes related to Osteopetrosis, Autosomal Recessive 2 (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TNFSF11	TNF Superfamily Member 11	Protein Coding	1322.72	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	17632511
2	CLCN7	Chloride Voltage-Gated Channel 7	Protein Coding	6.57	DISEASES inferred ¹⁵
3	TCIRG1	T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3	Protein Coding	6.16	DISEASES inferred ¹⁵
4	NFATC1	Nuclear Factor Of Activated T Cells 1	Protein Coding	6	DISEASES inferred ¹⁵
5	DEFB105B	Defensin Beta 105B	Protein Coding	5.64	DISEASES inferred ¹⁵
6	DEFB105A	Defensin Beta 105A	Protein Coding	5.63	DISEASES inferred ¹⁵
7	OSTM1	Osteoclastogenesis Associated Transmembrane Protein 1	Protein Coding	5.53	DISEASES inferred ¹⁵
8	PLEKHM1	Pleckstrin Homology And RUN Domain Containing M1	Protein Coding	5.52	DISEASES inferred ¹⁵
9	ACP5	Acid Phosphatase 5, Tartrate Resistant	Protein Coding	5.37	DISEASES inferred ¹⁵
10	CTSK	Cathepsin K	Protein Coding	5.26	DISEASES inferred ¹⁵
11	RGS10	Regulator Of G Protein Signaling 10	Protein Coding	5.22	DISEASES inferred ¹⁵
12	DIPK1C	Divergent Protein Kinase Domain 1C	Protein Coding	5.2	DISEASES inferred ¹⁵

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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

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Expression for Osteopetrosis, Autosomal Recessive 2

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

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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	RANK Signaling in Osteoclasts ⁶³ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²³ APRIL Pathway ⁶³ BAFF in B-Cell Signaling ⁶³ Osteoclast differentiation ³⁶ RANK Pathway ⁶³ RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway ¹	12.14	TNFSF11 NFATC1 CTSK ACP5
2	Ion channel transport ⁶⁵ Show member pathways Stimuli-sensing channels ⁶⁵	11.99	TCIRG1 OSTM1 CLCN7
3	Lysosome ³⁶	11.44	TCIRG1 CTSK ACP5
4	Rheumatoid arthritis ³⁶	11.23	TNFSF11 TCIRG1 CTSK ACP5
5	Osteoclast Signaling ¹	10	TNFSF11 CTSK ACP5

Sources

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

Sources for Osteopetrosis, Autosomal Recessive 2

¹ BioSystems

² BitterDB

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Osteopetrosis, Autosomal Recessive 2 (OPTB2)

Aliases & Classifications for Osteopetrosis, Autosomal Recessive 2

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 2:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Osteopetrosis, Autosomal Recessive 2

Related Diseases for Osteopetrosis, Autosomal Recessive 2

Diseases in the Osteopetrosis family:

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

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

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 2

Human phenotypes related to Osteopetrosis, Autosomal Recessive 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 2:

Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 2

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Genes related to Osteopetrosis, Autosomal Recessive 2 (1 elite genes):

Variations for Osteopetrosis, Autosomal Recessive 2

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 2:

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

Expression for Osteopetrosis, Autosomal Recessive 2

Pathways for Osteopetrosis, Autosomal Recessive 2

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

GO Terms for Osteopetrosis, Autosomal Recessive 2

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

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

Sources for Osteopetrosis, Autosomal Recessive 2