OPTB1
MCID: OST126
MIFTS: 48

Osteopetrosis, Autosomal Recessive 1 (OPTB1)

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Osteopetrosis, Autosomal Recessive 1

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 1:

Name: Osteopetrosis, Autosomal Recessive 1 56 73 13 71
Optb1 56 12 52 73
Osteopetrosis Autosomal Recessive 1 52 29 6
Autosomal Recessive Albers-Schonberg Disease 12 73
Autosomal Recessive Osteopetrosis 1 12 15
Infantile Malignant Osteopetrosis 73 71
Albers-Schonberg Disease, Autosomal Recessive 56
Osteopetrosis, Autosomal Recessive, Type 1 39
Autosomal Recessive Osteopetrosis Type 1 52
Osteopetrosis, Infantile Malignant 1 56
Infantile Malignant Osteopetrosis 1 12
Osteopetrosis Infantile Malignant 1 52
Marble Bones, Autosomal Recessive 56
Marble Bones Autosomal Recessive 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see )


HPO:

31
osteopetrosis, autosomal recessive 1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for Osteopetrosis, Autosomal Recessive 1

OMIM : 56 Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). (259700)

MalaCards based summary : Osteopetrosis, Autosomal Recessive 1, also known as optb1, is related to autosomal recessive malignant osteopetrosis and osteopetrosis, autosomal recessive 5, and has symptoms including ophthalmoplegia An important gene associated with Osteopetrosis, Autosomal Recessive 1 is TCIRG1 (T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3), and among its related pathways/superpathways are Innate Immune System and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include bone, bone marrow and liver, and related phenotypes are macrocephaly and frontal bossing

Disease Ontology : 12 An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.

NIH Rare Diseases : 52 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.

UniProtKB/Swiss-Prot : 73 Osteopetrosis, autosomal recessive 1: 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.

Related Diseases for Osteopetrosis, Autosomal Recessive 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive malignant osteopetrosis 33.0 TCIRG1 CLCN7
2 osteopetrosis, autosomal recessive 5 32.7 TCIRG1 CLCN7 ATP6V1B1
3 osteopetrosis, autosomal recessive 4 30.6 TCIRG1 IMPDH1 CLCN7 ATP6V1B1 ATP6V0A4
4 osteopetrosis 30.4 TCIRG1 CLCN7 ATP6V0A2
5 endosteal hyperostosis, autosomal dominant 29.8 TCIRG1 CLCN7
6 autosomal recessive disease 10.3
7 bone resorption disease 10.3
8 thrombocytopenia 10.3
9 yemenite deaf-blind hypopigmentation syndrome 10.2
10 clcn7-related osteopetrosis 10.2
11 branchiootic syndrome 1 10.1
12 graft-versus-host disease 10.1
13 pancytopenia 10.1
14 pathologic nystagmus 10.1
15 axial osteomalacia 10.0 TCIRG1 CLCN7
16 fibrogenesis imperfecta ossium 10.0 TCIRG1 CLCN7
17 osteopetrosis, autosomal recessive 8 10.0 TCIRG1 CLCN7
18 pulmonary hypertension, primary, 1 10.0
19 silver-russell syndrome 10.0
20 strabismus 10.0
21 myelofibrosis 10.0
22 3-methylglutaconic aciduria, type iii 10.0
23 juvenile myelomonocytic leukemia 10.0
24 choanal atresia, posterior 10.0
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
26 pulmonary hypertension 10.0
27 hypophosphatemia 10.0
28 bone disease 10.0
29 hepatic veno-occlusive disease 10.0
30 osteomyelitis 10.0
31 osteomalacia 10.0
32 rickets 10.0
33 respiratory failure 10.0
34 diarrhea 10.0
35 agammaglobulinemia 10.0
36 retinal degeneration 10.0
37 mechanical strabismus 10.0
38 diencephalic syndrome 10.0
39 homologous wasting disease 10.0
40 hypotonia 10.0
41 osteopetrosis, autosomal recessive 2 10.0 TCIRG1 CLCN7
42 craniodiaphyseal dysplasia 10.0 TCIRG1 CLCN7
43 osteopetrosis, autosomal dominant 2 9.9 TCIRG1 CLCN7
44 medullary sponge kidney 9.9 ATP6V1B1 ATP6V0A4
45 hereditary distal renal tubular acidosis 9.9 ATP6V1B1 ATP6V0A4
46 pycnodysostosis 9.9 TCIRG1 CLCN7
47 distal renal tubular acidosis 9.9 ATP6V1B1 ATP6V0A4
48 craniometaphyseal dysplasia, autosomal dominant 9.9 TCIRG1 CLCN7
49 renal tubular acidosis, distal, autosomal recessive 9.9 ATP6V1B1 ATP6V0A4
50 bone remodeling disease 9.8 TCIRG1 CLCN7

Graphical network of the top 20 diseases related to Osteopetrosis, Autosomal Recessive 1:



Diseases related to Osteopetrosis, Autosomal Recessive 1

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 1

Human phenotypes related to Osteopetrosis, Autosomal Recessive 1:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 frontal bossing 31 HP:0002007
3 seizures 31 HP:0001250
4 failure to thrive 31 HP:0001508
5 nystagmus 31 HP:0000639
6 facial palsy 31 HP:0010628
7 hydrocephalus 31 HP:0000238
8 hearing impairment 31 HP:0000365
9 splenomegaly 31 HP:0001744
10 hepatomegaly 31 HP:0002240
11 carious teeth 31 HP:0000670
12 optic atrophy 31 HP:0000648
13 blindness 31 HP:0000618
14 anemia 31 HP:0001903
15 pancytopenia 31 HP:0001876
16 pathologic fracture 31 HP:0002756
17 osteomyelitis 31 HP:0002754
18 ophthalmoparesis 31 HP:0000597
19 tetany 31 HP:0001281
20 coxa vara 31 HP:0002812
21 osteopetrosis 31 HP:0011002
22 elevated alkaline phosphatase 31 HP:0003155
23 flared metaphysis 31 HP:0003015
24 facial paralysis 31 HP:0007209
25 sandwich appearance of vertebral bodies 31 HP:0004618

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly

Growth Weight:
failure to thrive

Neurologic Central Nervous System:
hydrocephalus
cranial nerve palsies
seizures (tetany)

Abdomen Liver:
hepatomegaly

Skeletal:
osteomyelitis
pathologic fractures
uniformly dense skeleton
bone-within-bone appearance

Laboratory Abnormalities:
elevated alkaline phosphatase
low serum calcium
elevated serum phosphorus

Head And Neck Ears:
deafness

Skeletal Skull:
thick, dense skull
narrowness of neural and vascular foramina

Head And Neck Face:
frontal bossing
facial paralysis

Head And Neck Eyes:
nystagmus
optic atrophy
blindness
extraocular muscle paralysis

Abdomen Spleen:
splenomegaly

Hematology:
anemia
pancytopenia

Skeletal Pelvis:
coxa vara

Skeletal Spine:
sandwich appearance of vertebral bodies

Head And Neck Teeth:
dental caries
distorted primary molars

Skeletal Limbs:
splayed metaphyses

Clinical features from OMIM:

259700

UMLS symptoms related to Osteopetrosis, Autosomal Recessive 1:


ophthalmoplegia

Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 1

Search Clinical Trials , NIH Clinical Center for Osteopetrosis, Autosomal Recessive 1

Genetic Tests for Osteopetrosis, Autosomal Recessive 1

Genetic tests related to Osteopetrosis, Autosomal Recessive 1:

# Genetic test Affiliating Genes
1 Osteopetrosis Autosomal Recessive 1 29 TCIRG1

Anatomical Context for Osteopetrosis, Autosomal Recessive 1

MalaCards organs/tissues related to Osteopetrosis, Autosomal Recessive 1:

40
Bone, Bone Marrow, Liver, Spleen, Brain, T Cells, Neutrophil

Publications for Osteopetrosis, Autosomal Recessive 1

Articles related to Osteopetrosis, Autosomal Recessive 1:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. 61 56 6
10942435 2000
2
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. 61 56 6
10888887 2000
3
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. 56 6
12566520 2003
4
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. 61 6
12552563 2003
5
Allogeneic bone-marrow transplantation in infantile malignant osteopetrosis. 61 56
6131166 1983
6
Successful bone-marrow transplantation for infantile malignant osteopetrosis. 61 56
6986555 1980
7
An SNX10 mutation causes malignant osteopetrosis of infancy. 56
22499339 2012
8
Hematopoietic cells and osteoblasts are derived from a common marrow progenitor after bone marrow transplantation. 56
15282377 2004
9
Molecular genetics of too much bone. 56
12351574 2002
10
The mutational spectrum of human malignant autosomal recessive osteopetrosis. 6
11532986 2001
11
Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. 56
9700194 1998
12
Demonstration of an osteoblast defect in two cases of human malignant osteopetrosis. Correction of the phenotype after bone marrow transplant. 56
8878435 1996
13
Long-term treatment of osteopetrosis with recombinant human interferon gamma. 56
7753137 1995
14
Prenatal diagnosis of autosomal recessive osteopetrosis, infantile type, by X-ray evaluation. 56
7644439 1995
15
Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group. 56
7996361 1994
16
Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families. 56
8291528 1993
17
Combination macrophage-colony stimulating factor and interferon-gamma administration ameliorates the osteopetrotic condition in microphthalmic (mi/mi) mice. 56
8479820 1993
18
Recombinant human interferon gamma therapy for osteopetrosis. 56
1320672 1992
19
Circulating macrophage colony-stimulating factor is not reduced in malignant osteopetrosis. 56
1577090 1992
20
Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma. 56
2838754 1988
21
Osteopetrosis. A genetic and epidemiological study. 56
3829443 1987
22
Neutrophil defect associated with malignant infantile osteopetrosis. 56
3021878 1986
23
Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985. 56
2877234 1986
24
Treatment of congenital osteopetrosis with high-dose calcitriol. 56
6546410 1984
25
Marrow transplantation for juvenile osteopetrosis. 56
7015858 1981
26
Osteopetrosis in children: a report of 26 cases. 56
874663 1977
27
Bone resorption restored in osteopetrotic mice by transplants of normal bone marrow and spleen cells. 56
1105786 1975
28
Spleen cells transmit osteopetrosis in mice. 56
1198094 1975
29
Therapeutic studies in osteopetrosis. Report of 4 cases. 56
5378349 1969
30
Retinal atrophy in osteopetrosis. 56
4170880 1968
31
Malignant congenital osteopetrosis resulting from a consanguineous marriage. 56
13985134 1962
32
Studies on osteopetrosis. 1. Clinical report of three cases with genetic considerations. 56
13532685 1958
33
[Not Available]. 56
18865120 1948
34
Malignant Infantile Osteopetrosis: A Case Report. 61
32015934 2020
35
Hematopoietic Stem Cell-Targeted Neonatal Gene Therapy with a Clinically Applicable Lentiviral Vector Corrects Osteopetrosis in oc/oc Mice. 61
31179768 2019
36
Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis. 61
28726516 2018
37
Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family. 61
29926385 2018
38
Successful hematopoietic stem cell transplantation for osteopetrosis using reduced intensity conditioning. 61
29469225 2018
39
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis. 61
30539151 2018
40
[Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients]. 61
29723947 2018
41
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families. 61
28816234 2017
42
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. 61
28612835 2017
43
[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis]. 61
28604959 2017
44
Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy. 61
27541021 2016
45
Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds. 61
26970326 2016
46
Identification and Characterization of Mutations in the CLCN7 Gene in a Taiwanese Patient with Infantile Malignant Osteopetrosis. 61
26365571 2016
47
Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning. 61
26485304 2016
48
A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient. 61
26477479 2016
49
Unmistakable Morphology? Infantile Malignant Osteopetrosis Resembling Juvenile Myelomonocytic Leukemia in Infants. 61
25982139 2015
50
[Preimplantation genetic diagnosis of infantile malignant osteopetrosis in a Chinese family]. 61
26037338 2015

Variations for Osteopetrosis, Autosomal Recessive 1

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 1:

6 (show top 50) (show all 85) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCIRG1 NM_006019.4(TCIRG1):c.1674-1G>ASNV Pathogenic 189246 rs139617644 11:67816547-67816547 11:68049080-68049080
2 TCIRG1 NM_006019.4(TCIRG1):c.922del (p.Gln308fs)deletion Pathogenic 5459 rs1554996130 11:67811712-67811712 11:68044245-68044245
3 TCIRG1 NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter)SNV Pathogenic 5460 rs137853149 11:67815200-67815200 11:68047733-68047733
4 TCIRG1 NM_006019.4(TCIRG1):c.1674G>A (p.Val558=)SNV Pathogenic 5461 rs745971874 11:67816548-67816548 11:68049081-68049081
5 TCIRG1 NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)SNV Pathogenic 5463 rs137853150 11:67814947-67814947 11:68047480-68047480
6 TCIRG1 NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)SNV Pathogenic 5464 rs137853151 11:67815139-67815139 11:68047672-68047672
7 TCIRG1 NM_006019.3(TCIRG1):c.649_674del (p.Met217Terfs)deletion Pathogenic 5465 11:67811056-67811081 11:68043587-68043612
8 TCIRG1 NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)SNV Pathogenic 551284 rs371263807 11:67817250-67817250 11:68049783-68049783
9 TCIRG1 NM_006019.4(TCIRG1):c.2236+1G>ASNV Pathogenic 558226 rs1475338876 11:67817722-67817722 11:68050255-68050255
10 TCIRG1 NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)SNV Pathogenic 553240 rs748659068 11:67817721-67817721 11:68050254-68050254
11 TCIRG1 NM_006019.4(TCIRG1):c.630+2T>CSNV Pathogenic 551426 rs1392364437 11:67810966-67810966 11:68043499-68043499
12 TCIRG1 NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter)SNV Pathogenic 557398 rs1489993984 11:67815010-67815010 11:68047543-68047543
13 TCIRG1 NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg)SNV Pathogenic/Likely pathogenic 552227 rs137853150 11:67814947-67814947 11:68047480-68047480
14 TCIRG1 NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)SNV Pathogenic/Likely pathogenic 552835 rs1338631330 11:67810259-67810259 11:68042792-68042792
15 TCIRG1 NM_006019.4(TCIRG1):c.1891del (p.Val631fs)deletion Pathogenic/Likely pathogenic 555837 rs1300297240 11:67817132-67817132 11:68049665-68049665
16 TCIRG1 NM_006019.4(TCIRG1):c.117+4A>TSNV Pathogenic/Likely pathogenic 5462 rs751881962 11:67808859-67808859 11:68041392-68041392
17 TCIRG1 NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter)SNV Likely pathogenic 371557 rs1057517365 11:67816350-67816350 11:68048883-68048883
18 TCIRG1 NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs)indel Likely pathogenic 558012 rs1554995350 11:67810474-67810475 11:68043007-68043008
19 TCIRG1 NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)duplication Likely pathogenic 556585 rs1554995341 11:67810469-67810470 11:68043002-68043003
20 TCIRG1 NM_006019.4(TCIRG1):c.-5+1G>TSNV Likely pathogenic 553850 rs917505107 11:67806587-67806587 11:68039120-68039120
21 TCIRG1 NM_006019.4(TCIRG1):c.503+1G>ASNV Likely pathogenic 558548 rs1554995381 11:67810499-67810499 11:68043032-68043032
22 TCIRG1 NM_006019.4(TCIRG1):c.242del (p.Pro81fs)deletion Likely pathogenic 551450 rs1208311085 11:67810151-67810151 11:68042684-68042684
23 TCIRG1 NM_006019.4(TCIRG1):c.713+1G>TSNV Likely pathogenic 555158 rs774308815 11:67811121-67811121 11:68043654-68043654
24 TCIRG1 NM_006019.4(TCIRG1):c.807+1G>TSNV Likely pathogenic 553582 rs1458295257 11:67811375-67811375 11:68043908-68043908
25 TCIRG1 NM_006019.4(TCIRG1):c.1306-1G>ASNV Likely pathogenic 554018 rs1554997884 11:67815113-67815113 11:68047646-68047646
26 TCIRG1 NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs)duplication Likely pathogenic 550871 rs1554998061 11:67815241-67815242 11:68047774-68047775
27 TCIRG1 NM_006019.4(TCIRG1):c.1555-2A>CSNV Likely pathogenic 551487 rs758977199 11:67816344-67816344 11:68048877-68048877
28 TCIRG1 NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs)duplication Likely pathogenic 551059 rs1554999516 11:67817129-67817130 11:68049662-68049663
29 TCIRG1 NM_006019.4(TCIRG1):c.2415-2A>GSNV Likely pathogenic 554390 rs1555000376 11:67818206-67818206 11:68050739-68050739
30 TCIRG1 NM_006019.4(TCIRG1):c.713+1G>CSNV Likely pathogenic 557878 rs774308815 11:67811121-67811121 11:68043654-68043654
31 TCIRG1 NM_006019.4(TCIRG1):c.1305+2T>CSNV Likely pathogenic 557548 rs1554997818 11:67815041-67815041 11:68047574-68047574
32 TCIRG1 NM_006019.4(TCIRG1):c.630+1G>TSNV Likely pathogenic 555046 rs1554995582 11:67810965-67810965 11:68043498-68043498
33 TCIRG1 NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs)duplication Likely pathogenic 557128 rs1554995706 11:67811094-67811095 11:68043627-68043628
34 TCIRG1 NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs)duplication Likely pathogenic 556717 rs1554997997 11:67815191-67815192 11:68047724-68047725
35 TCIRG1 NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter)SNV Likely pathogenic 552024 rs1554995009 11:67810118-67810118 11:68042651-68042651
36 TCIRG1 NM_006019.4(TCIRG1):c.2450dup (p.Tyr818fs)duplication Likely pathogenic 694391 11:67818240-67818241 11:68050773-68050774
37 TCIRG1 NM_006019.4(TCIRG1):c.1554+1G>TSNV Likely pathogenic 554456 rs1439348400 11:67815440-67815440 11:68047973-68047973
38 TCIRG1 NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter)SNV Likely pathogenic 554751 rs1554995330 11:67810461-67810461 11:68042994-68042994
39 TCIRG1 NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter)SNV Likely pathogenic 557925 rs1385741705 11:67810482-67810482 11:68043015-68043015
40 TCIRG1 NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs)deletion Likely pathogenic 551799 rs1554995522 11:67810885-67810898 11:68043418-68043431
41 TCIRG1 NM_006019.4(TCIRG1):c.1887+1G>CSNV Likely pathogenic 558282 rs1554999205 11:67816762-67816762 11:68049295-68049295
42 TCIRG1 NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)SNV Likely pathogenic 550832 rs749361897 11:67811770-67811770 11:68044303-68044303
43 TCIRG1 NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter)SNV Likely pathogenic 555504 rs1159666762 11:67812428-67812428 11:68044961-68044961
44 TCIRG1 NM_006019.4(TCIRG1):c.1118del (p.Gly373fs)deletion Likely pathogenic 552720 rs1269558164 11:67812520-67812520 11:68045053-68045053
45 TCIRG1 NM_006019.4(TCIRG1):c.674del (p.Gly225fs)deletion Likely pathogenic 804459 11:67811078-67811078 11:68043611-68043611
46 TCIRG1 NM_006019.4(TCIRG1):c.2415-1G>CSNV Likely pathogenic 804460 11:67818207-67818207 11:68050740-68050740
47 TCIRG1 NM_006019.4(TCIRG1):c.117+1G>ASNV Conflicting interpretations of pathogenicity 551945 rs377303800 11:67808856-67808856 11:68041389-68041389
48 TCIRG1 NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs)deletion Conflicting interpretations of pathogenicity 305784 rs886048594 11:67810215-67810221 11:68042748-68042754
49 TCIRG1 NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)SNV Conflicting interpretations of pathogenicity 305804 rs777785526 11:67815031-67815031 11:68047564-68047564
50 TCIRG1 NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)SNV Conflicting interpretations of pathogenicity 305811 rs145144233 11:67816674-67816674 11:68049207-68049207

UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis, Autosomal Recessive 1:

73
# Symbol AA change Variation ID SNP ID
1 TCIRG1 p.Gly405Arg VAR_019569 rs137853150
2 TCIRG1 p.Arg444Leu VAR_019570 rs137853151
3 TCIRG1 p.Ala141Pro VAR_020988
4 TCIRG1 p.Asp517Asn VAR_020990 rs369264588
5 TCIRG1 p.Pro775Arg VAR_020991

Expression for Osteopetrosis, Autosomal Recessive 1

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Recessive 1.

Pathways for Osteopetrosis, Autosomal Recessive 1

Pathways related to Osteopetrosis, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 TCIRG1 IMPDH1 ATP6V1B1 ATP6V0A4 ATP6V0A2
2
Show member pathways
13.04 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
3
Show member pathways
12.93 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
4
Show member pathways
12.59 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
5
Show member pathways
12.07 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
6 11.86 TCIRG1 ATP6V0A4 ATP6V0A2
7 11.74 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
8 11.63 TCIRG1 ATP6V0A4 ATP6V0A2
9
Show member pathways
11.57 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
10
Show member pathways
11.52 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
11 11.23 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2

GO Terms for Osteopetrosis, Autosomal Recessive 1

Cellular components related to Osteopetrosis, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.73 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
2 apical plasma membrane GO:0016324 9.58 TCIRG1 ATP6V1B1 ATP6V0A4
3 lysosomal membrane GO:0005765 9.56 TCIRG1 CLCN7 ATP6V0A4 ATP6V0A2
4 endosome membrane GO:0010008 9.54 TCIRG1 ATP6V0A4 ATP6V0A2
5 phagocytic vesicle membrane GO:0030670 9.5 TCIRG1 ATP6V0A4 ATP6V0A2
6 proton-transporting V-type ATPase, V0 domain GO:0033179 9.33 TCIRG1 ATP6V0A4 ATP6V0A2
7 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 9.13 TCIRG1 ATP6V0A4 ATP6V0A2
8 vacuolar proton-transporting V-type ATPase complex GO:0016471 8.92 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2

Biological processes related to Osteopetrosis, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
2 proton transmembrane transport GO:1902600 9.67 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
3 ossification GO:0001503 9.63 TCIRG1 ATP6V1B1 ATP6V0A4
4 insulin receptor signaling pathway GO:0008286 9.56 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
5 ion transmembrane transport GO:0034220 9.55 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
6 sensory perception of sound GO:0007605 9.52 ATP6V1B1 ATP6V0A4
7 regulation of macroautophagy GO:0016241 9.51 ATP6V1B1 ATP6V0A2
8 vacuolar acidification GO:0007035 9.5 TCIRG1 ATP6V0A4 ATP6V0A2
9 excretion GO:0007588 9.49 ATP6V1B1 ATP6V0A4
10 regulation of pH GO:0006885 9.48 ATP6V1B1 ATP6V0A4
11 pH reduction GO:0045851 9.43 TCIRG1 ATP6V1B1
12 transferrin transport GO:0033572 9.26 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
13 phagosome acidification GO:0090383 8.92 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2

Molecular functions related to Osteopetrosis, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 9.33 TCIRG1 ATP6V0A4 ATP6V0A2
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.13 TCIRG1 ATP6V0A4 ATP6V0A2
3 proton transmembrane transporter activity GO:0015078 8.92 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2

Sources for Osteopetrosis, Autosomal Recessive 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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