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

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Aliases & Classifications for Osteopetrosis, Autosomal Recessive 2

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 2:

IMPROVED

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:

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

See all MalaCards categories (disease lists)

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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

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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 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:

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Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 2

Human phenotypes related to Osteopetrosis, Autosomal Recessive 2:

³⁰ (show all 18)

#	Description	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

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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 ²⁸	TNFSF11

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Anatomical Context for Osteopetrosis, Autosomal Recessive 2

Organs/tissues related to Osteopetrosis, Autosomal Recessive 2:

MalaCards : Bone, Bone Marrow

ODiseA: Blood And Bone Marrow

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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	Sobacchi C...Helfrich MH	17632511	2007
2	RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease. ⁵	Lo Iacono N...Sobacchi C	23762088	2013
3	A mild autosomal recessive form of osteopetrosis. ⁵⁷	Kahler SG...Aylsworth AS	6702897	1984
4	Osteopetrosis: further heterogeneity. ⁵⁷	Horton WA...Iyama T	7420221	1980
5	Osteoclast-poor osteopetrosis. ⁶²	Sobacchi C...Abinun M	36031188	2022
6	Genetic disorders associated with the RANKL/OPG/RANK pathway. ⁶²	Xue JY...Guo L	32940787	2021
7	A Rare Case of Osteoclast-poor Osteopetrosis (RANKL Mutation) with Recurrent Osteomyelitis of Mandible: A Case Report. ⁶²	Sharma A...Ranadive P	33976500	2020
8	RANK receptor oligomerisation in the regulation of NFκB signalling. ⁶²	Das S...Crockett JC	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	Thudium CS...Henriksen K	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	Boyce RW...Pyrah IT	24727159	2014
11	RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations. ⁶²	Pangrazio A...Sobacchi C	22271396	2012
12	Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. ⁶²	Guerrini MM...Frattini A	18606301	2008
13	Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor. ⁶²	Nicholls BM...Flanagan AM	16294279	2005

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Genes for Osteopetrosis, Autosomal Recessive 2

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

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TNFSF11	TNF Superfamily Member 11	Protein Coding	1339.31	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	17632511 23762088
2	CLCN7	Chloride Voltage-Gated Channel 7	Protein Coding	6.68	DISEASES inferred ¹⁴
3	TCIRG1	T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3	Protein Coding	6.41	DISEASES inferred ¹⁴
4	OSTM1	Osteoclastogenesis Associated Transmembrane Protein 1	Protein Coding	6.41	DISEASES inferred ¹⁴
5	TNFRSF11A	TNF Receptor Superfamily Member 11a	Protein Coding	6.23	DISEASES inferred ¹⁴
6	PLEKHM1	Pleckstrin Homology And RUN Domain Containing M1	Protein Coding	5.98	DISEASES inferred ¹⁴
7	NFATC1	Nuclear Factor Of Activated T Cells 1	Protein Coding	5.46	DISEASES inferred ¹⁴
8	SNX10	Sorting Nexin 10	Protein Coding	5.42	DISEASES inferred ¹⁴
9	ACP5	Acid Phosphatase 5, Tartrate Resistant	Protein Coding	5.17	DISEASES inferred ¹⁴
10	CTSK	Cathepsin K	Protein Coding	5.08	DISEASES inferred ¹⁴
11	CSF1	Colony Stimulating Factor 1	Protein Coding	4.85	DISEASES inferred ¹⁴
12	LRRK1	Leucine Rich Repeat Kinase 1	Protein Coding	4.78	DISEASES inferred ¹⁴
13	CA2	Carbonic Anhydrase 2	Protein Coding	4.78	DISEASES inferred ¹⁴

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Variations for Osteopetrosis, Autosomal Recessive 2

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 2:

IMPROVED

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

Sources

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	BAFF in B-Cell Signaling ⁶⁴ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²² APRIL Pathway ⁶⁴ RANK Pathway ⁶⁴ RANK Signaling in Osteoclasts ⁶⁴	11.72	TNFSF11 TNFRSF11A NFATC1
2	Clock-controlled autophagy in bone metabolism ⁷⁴	11.34	TNFSF11 TNFRSF11A PLEKHM1 NFATC1 CTSK CSF1
3	Pluripotent stem cell differentiation pathway ⁷⁴	11.09	TNFSF11 CSF1
4	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	10.99	TNFSF11 TNFRSF11A CA2
5	Type I collagen synthesis in the context of osteogenesis imperfecta ⁷⁴	10.89	TNFSF11 TNFRSF11A
6	Mammary gland development pathway - Pregnancy and lactation (Stage 3 of 4) ⁷⁴	10.83	TNFSF11 TNFRSF11A
7	Autosomal recessive osteopetrosis pathways ⁷⁴	10.21	TNFSF11 TNFRSF11A TCIRG1 SNX10 PLEKHM1 OSTM1

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	9.56	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

Sources for Osteopetrosis, Autosomal Recessive 2

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

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¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Osteopetrosis, Autosomal Recessive 2 (OPTB2)

Aliases & Classifications for Osteopetrosis, Autosomal Recessive 2

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 2:

Characteristics:

Inheritance:

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®:

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

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 2:

Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 2

Genetic Tests 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