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:

Name: Osteopetrosis, Autosomal Recessive 2 ⁵⁸ ⁷⁶ ¹³

Optb2 ⁵⁸ ¹² ⁵⁴ ⁷⁶

Osteopetrosis Autosomal Recessive 2 ⁵⁴ ³⁰ ⁶

Osteopetrosis, Mild Autosomal Recessive Form ⁵⁸ ⁷⁴

Autosomal Recessive Osteopetrosis 2 ¹² ¹⁵

Osteoclast-Poor Osteopetrosis ¹² ⁷⁶

Mild Autosomal Recessive Form Osteopetrosis ¹²

Osteopetrosis, Autosomal Recessive, Type 2 ⁴¹

Autosomal Recessive Osteopetrosis Type 2 ⁵⁴

Osteopetrosis, Osteoclast-Poor ⁵⁸

Osteopetrosis Osteoclast-Poor ⁵⁴

Characteristics:

OMIM:

⁵⁸

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

HPO:

³³

osteopetrosis, autosomal recessive 2:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110943

OMIM ⁵⁸ 259710

MeSH ⁴⁵ D010022

MedGen ⁴³ C1850126

UMLS ⁷⁴ C1850126

Sources

Summaries for Osteopetrosis, Autosomal Recessive 2

NIH Rare Diseases : ⁵⁴ Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by mutations in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. Management depends on the specific symptoms and severity and may include vitamin D supplements, various medications, and/or surgery. Adult osteopetrosis requires no treatment by itself, but complications may require intervention.

MalaCards based summary : Osteopetrosis, Autosomal Recessive 2, also known as optb2, is related to osteopetrosis, autosomal recessive 7 and osteopetrosis. An important gene associated with Osteopetrosis, Autosomal Recessive 2 is TNFSF11 (TNF Superfamily Member 11), and among its related pathways/superpathways are Innate Immune System and Development Angiotensin activation of ERK. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are genu valgum and mandibular prognathia

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 : ⁷⁶ Osteopetrosis, autosomal recessive 2: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development.

Description from OMIM: 259710

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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 all 25)

#	Related Disease	Score	Top Affiliating Genes
1	osteopetrosis, autosomal recessive 7	33.0	TNFRSF11A TNFSF11
2	osteopetrosis	30.7	CLCN7 TNFRSF11A TNFSF11
3	bone resorption disease	30.2	CYP27A1 TNFRSF11A TNFSF11
4	autosomal recessive malignant osteopetrosis	10.3	CLCN7 TNFSF11
5	polyarticular onset juvenile idiopathic arthritis	10.3	TNFRSF11A TNFSF11
6	hemophilic arthropathy	10.3	TNFRSF11A TNFSF11
7	breast leiomyosarcoma	10.3	TNFRSF11A TNFSF11
8	paget disease of bone 5, juvenile-onset	10.3	TNFRSF11A TNFSF11
9	familial expansile osteolysis	10.2	TNFRSF11A TNFSF11
10	multicentric carpotarsal osteolysis syndrome	10.2	TNFRSF11A TNFSF11
11	aneurysmal bone cysts	10.2	TNFRSF11A TNFSF11
12	periapical periodontitis	10.2	TNFRSF11A TNFSF11
13	tooth resorption	10.2	TNFRSF11A TNFSF11
14	giant cell tumor	10.2	TNFRSF11A TNFSF11
15	ischemic bone disease	10.2	TNFRSF11A TNFSF11
16	bone giant cell tumor	10.2	ITGAV TNFSF11
17	agammaglobulinemia	10.1
18	root resorption	10.1	TNFRSF11A TNFSF11
19	osteopetrosis, autosomal dominant 2	10.1	CLCN7 TNFSF11
20	endosteal hyperostosis, autosomal dominant	10.1	CLCN7 TNFSF11
21	periodontal disease	10.1	DEFB1 TNFRSF11A TNFSF11
22	bone disease	10.1	CLCN7 TNFRSF11A TNFSF11
23	paget's disease of bone	10.0	TNFRSF11A TNFSF11
24	bone cancer	9.9	TNFRSF11A TNFSF11
25	bone remodeling disease	9.8	CLCN7 CYP27A1 TNFRSF11A TNFSF11

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

Sources

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 2

Human phenotypes related to Osteopetrosis, Autosomal Recessive 2:

³³ (show all 18)

#	Description	HPO Source Accession
1	genu valgum ³³	HP:0002857
2	mandibular prognathia ³³	HP:0000303
3	carious teeth ³³	HP:0000670
4	optic atrophy ³³	HP:0000648
5	blindness ³³	HP:0000618
6	anemia ³³	HP:0001903
7	pancytopenia ³³	HP:0001876
8	thrombocytopenia ³³	HP:0001873
9	recurrent fractures ³³	HP:0002757
10	mandibular osteomyelitis ³³	HP:0007626
11	cranial hyperostosis ³³	HP:0004437
12	osteopetrosis ³³	HP:0011002
13	persistence of primary teeth ³³	HP:0006335
14	hepatosplenomegaly ³³	HP:0001433
15	facial paralysis ³³	HP:0007209
16	extramedullary hematopoiesis ³³	HP:0001978
17	diaphyseal sclerosis ³³	HP:0003034
18	chronic rhinitis due to narrow nasal airway ³³	HP:0004499

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Heme:
anemia
pancytopenia
thrombocytopenia
extramedullary hematopoiesis

G I:
hepatosplenomegaly

Mandible:
mandibular prognathism

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

Eyes:
optic atrophy
early blindness

Skull:
cranial hyperostosis

Limbs:
diaphyseal sclerosis

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

Nose:
chronic rhinitis due to narrow nasal airway

Clinical features from OMIM:

259710

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

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased Salmonella enterica Typhimurium binding	GR00133-A-3	9.16	CYP27A1 ITGAV
2	Decreased Salmonella enterica Typhimurium effector injection	GR00133-A-4	8.96	CYP27A1 ITGAV
3	Decreased Salmonella enterica Typhimurium membrane closure	GR00133-A-6	8.62	CYP27A1 ITGAV

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 2:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	9.35	CLCN7 ITGAV TNFRSF11A TNFSF11 TRAF6
2	hematopoietic system	MP:0005397	9.17	CLCN7 CYP27A1 ITGAV RPS19BP1 TNFRSF11A TNFSF11

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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	Osteopetrosis Autosomal Recessive 2 ³⁰	TNFSF11

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Anatomical Context for Osteopetrosis, Autosomal Recessive 2

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

⁴²

Bone, Bone Marrow, Eye

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Publications for Osteopetrosis, Autosomal Recessive 2

Articles related to Osteopetrosis, Autosomal Recessive 2:

#	Title	Authors	Year
1	A comparison of osteoclast-rich and osteoclast-poor osteopetrosis in adult mice sheds light on the role of the osteoclast in coupling bone resorption and bone formation. ( 24838599 )	Thudium CS...Henriksen K	2014
2	Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. ( 18606301 )	Guerrini MM...Frattini A	2008
3	Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. ( 17632511 )	Sobacchi C...Helfrich MH	2007
4	Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor. ( 16294279 )	Nicholls BM...Flanagan AM	2005

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Genes for Osteopetrosis, Autosomal Recessive 2

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TNFSF11	TNF Superfamily Member 11	Protein Coding	1332.74	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	17632511
2	CLCN7	Chloride Voltage-Gated Channel 7	Protein Coding	26.97	GeneCards inferred via : Disorders Variants (show sections)
3	TNFRSF11A	TNF Receptor Superfamily Member 11a	Protein Coding	15.83	DISEASES inferred ¹⁵
4	DEFB1	Defensin Beta 1	Protein Coding	15.1	DISEASES inferred ¹⁵
5	ITGAV	Integrin Subunit Alpha V	Protein Coding	15.05	DISEASES inferred ¹⁵
6	CYP27A1	Cytochrome P450 Family 27 Subfamily A Member 1	Protein Coding	14.71	DISEASES inferred ¹⁵
7	TRAF6	TNF Receptor Associated Factor 6	Protein Coding	14.71	DISEASES inferred ¹⁵
8	RPS19BP1	Ribosomal Protein S19 Binding Protein 1	Protein Coding	6.99	DISEASES inferred ¹⁵
9	DEFB105A	Defensin Beta 105A	Protein Coding	6.77	DISEASES inferred ¹⁵
10	DEFB105B	Defensin Beta 105B	Protein Coding	6.77	DISEASES inferred ¹⁵

Sources

Variations for Osteopetrosis, Autosomal Recessive 2

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

⁷⁶

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

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TNFSF11	TNFSF11, 5-BP DEL, IVS7+4	deletion	Pathogenic
2	TNFSF11	NM_033012.3(TNFSF11): c.377T> A (p.Met126Lys)	single nucleotide variant	Pathogenic	rs121909072	GRCh37	Chromosome 13, 43180696: 43180696
3	TNFSF11	NM_033012.3(TNFSF11): c.377T> A (p.Met126Lys)	single nucleotide variant	Pathogenic	rs121909072	GRCh38	Chromosome 13, 42606560: 42606560
4	TNFSF11	NM_003701.3(TNFSF11): c.828_829delCG (p.Val277Trpfs)	deletion	Pathogenic	rs863223288	GRCh37	Chromosome 13, 43180928: 43180929
5	TNFSF11	NM_003701.3(TNFSF11): c.828_829delCG (p.Val277Trpfs)	deletion	Pathogenic	rs863223288	GRCh38	Chromosome 13, 42606792: 42606793

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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:

(show all 14)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁷ Show member pathways Immune System ⁶⁷ Neutrophil degranulation ⁶⁷	13.66	DEFB1 DEFB105A DEFB105B ITGAV TNFRSF11A TNFSF11
2	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	12.56	ITGAV TNFRSF11A TNFSF11 TRAF6
3	NF-kappaB Signaling ⁴	12.23	TNFRSF11A TNFSF11 TRAF6
4	TRAF Pathway ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁵ TNF Superfamily Pathway ⁶⁵ Toll-Like Receptors Pathway ⁶⁵	12.15	ITGAV TNFRSF11A TNFSF11 TRAF6
5	RANK Signaling in Osteoclasts ⁶⁵ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²³ APRIL Pathway ⁶⁵ BAFF in B-Cell Signaling ⁶⁵ RANK Pathway ⁶⁵ RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway ¹	12.05	TNFRSF11A TNFSF11 TRAF6
6	Defensins ⁶⁷ Show member pathways Alpha-defensins ⁶⁷ Antimicrobial peptides ⁶⁷ Beta defensins ⁶⁷ Ion influx/efflux at host-pathogen interface ⁶⁷ Metal sequestration by antimicrobial proteins ⁶⁷	11.98	DEFB1 DEFB105A DEFB105B
7	G-protein signaling Ras family GTPases in kinase cascades (scheme) ²³ Show member pathways Activation of the AP-1 family of transcription factors ⁶⁷ Immune response Oncostatin M signaling via MAPK in human cells ²³ MAPK Cascade ¹ Oncostatin M Signaling Pathway ¹	11.86	TNFRSF11A TNFSF11 TRAF6
8	Apoptosis and Autophagy ⁴	11.85	TNFRSF11A TNFSF11 TRAF6
9	Osteoclast differentiation ³⁸	11.54	TNFRSF11A TNFSF11 TRAF6
10	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²³	11.16	TNFRSF11A TNFSF11
11	NF-kappa B signaling pathway ³⁸	11.13	TNFRSF11A TNFSF11 TRAF6
12	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway ²³ Show member pathways Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway ²³	10.66	TNFRSF11A TNFSF11 TRAF6
13	Osteoclast Signaling ¹	10.57	TNFRSF11A TNFSF11
14	Osteoblast Signaling ¹	10.3	ITGAV TNFSF11

Sources

GO Terms for Osteopetrosis, Autosomal Recessive 2

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	defense response to bacterium	GO:0042742	9.72	DEFB1 DEFB105A DEFB105B
2	positive regulation of NF-kappaB transcription factor activity	GO:0051092	9.65	TNFRSF11A TNFSF11 TRAF6
3	defense response	GO:0006952	9.61	DEFB1 DEFB105A DEFB105B
4	monocyte chemotaxis	GO:0002548	9.57	TNFRSF11A TNFSF11
5	positive regulation of JUN kinase activity	GO:0043507	9.56	TNFRSF11A TRAF6
6	response to interleukin-1	GO:0070555	9.54	TNFRSF11A TRAF6
7	positive regulation of DNA-binding transcription factor activity	GO:0051091	9.54	TNFRSF11A TNFSF11 TRAF6
8	ERK1 and ERK2 cascade	GO:0070371	9.52	ITGAV TNFSF11
9	bone resorption	GO:0045453	9.51	TNFSF11 TRAF6
10	ossification	GO:0001503	9.5	TNFRSF11A TNFSF11 TRAF6
11	positive regulation of osteoclast differentiation	GO:0045672	9.49	TNFSF11 TRAF6
12	positive regulation of bone resorption	GO:0045780	9.46	TNFRSF11A TNFSF11
13	mammary gland alveolus development	GO:0060749	9.4	TNFRSF11A TNFSF11
14	TNFSF11-mediated signaling pathway	GO:0071847	9.26	TNFRSF11A TNFSF11
15	positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling	GO:0071848	9.16	TNFRSF11A TNFSF11
16	positive regulation of fever generation by positive regulation of prostaglandin secretion	GO:0071812	8.96	TNFRSF11A TNFSF11
17	osteoclast differentiation	GO:0030316	8.8	TNFRSF11A TNFSF11 TRAF6

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

#	Name	GO ID	Score	Top Affiliating Genes
1	tumor necrosis factor receptor binding	GO:0005164	8.62	TNFSF11 TRAF6

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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:

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

Genetic tests related to Osteopetrosis, Autosomal Recessive 2:

Anatomical Context for Osteopetrosis, Autosomal Recessive 2

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

Publications for Osteopetrosis, Autosomal Recessive 2

Articles related to Osteopetrosis, Autosomal Recessive 2:

Genes for Osteopetrosis, Autosomal Recessive 2

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

Variations for Osteopetrosis, Autosomal Recessive 2

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

ClinVar 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

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

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

Sources for Osteopetrosis, Autosomal Recessive 2