OPTB1
MCID: OST126
MIFTS: 50

Osteopetrosis, Autosomal Recessive 1 (OPTB1)

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
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Aliases & Classifications for Osteopetrosis, Autosomal Recessive 1

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 1:

Name: Osteopetrosis, Autosomal Recessive 1 57 73 71
Autosomal Recessive Osteopetrosis 1 11 28 5 14
Optb1 57 11 19 73
Autosomal Recessive Albers-Schonberg Disease 11 73
Infantile Malignant Osteopetrosis 73 71
Albers-Schonberg Disease, Autosomal Recessive 57
Osteopetrosis, Autosomal Recessive, Type 1 38
Autosomal Recessive Osteopetrosis Type 1 19
Osteopetrosis, Infantile Malignant 1 57
Infantile Malignant Osteopetrosis 1 11
Osteopetrosis Autosomal Recessive 1 19
Osteopetrosis Infantile Malignant 1 19
Marble Bones, Autosomal Recessive 57
Marble Bones Autosomal Recessive 19

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity (see )


Classifications:



Summaries for Osteopetrosis, Autosomal Recessive 1

OMIM®: 57 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) (Updated 08-Dec-2022)

MalaCards based summary: Osteopetrosis, Autosomal Recessive 1, also known as autosomal recessive osteopetrosis 1, 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 Transport of inorganic cations/anions and amino acids/oligopeptides and Signaling by Receptor Tyrosine Kinases. The drug Levoleucovorin has been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and spleen, and related phenotypes are macrocephaly and hydrocephalus

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.

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.

Disease Ontology: 11 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.

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 61)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive malignant osteopetrosis 32.3 TCIRG1 CLCN7
2 osteopetrosis, autosomal recessive 5 31.3 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4
3 osteopetrosis 31.0 TCIRG1 CLCN7
4 osteopetrosis, autosomal recessive 4 31.0 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4
5 osteopetrosis, autosomal recessive 7 30.7 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4
6 endosteal hyperostosis, autosomal dominant 29.8 TCIRG1 CLCN7
7 graft-versus-host disease 10.3
8 thrombocytopenia 10.2
9 clcn7-related osteopetrosis 10.2
10 pulmonary hypertension, primary, 1 10.1
11 aplastic anemia 10.1
12 bone disease 10.1
13 pancytopenia 10.1
14 pathologic nystagmus 10.1
15 silver-russell syndrome 1 10.0
16 strabismus 10.0
17 choroidal dystrophy, central areolar, 1 10.0
18 myelofibrosis 10.0
19 3-methylglutaconic aciduria, type iii 10.0
20 agammaglobulinemia, x-linked 10.0
21 juvenile myelomonocytic leukemia 10.0
22 choanal atresia, posterior 10.0
23 deficiency anemia 10.0
24 pulmonary hypertension 10.0
25 hypophosphatemia 10.0
26 hepatic veno-occlusive disease 10.0
27 osteomyelitis 10.0
28 osteomalacia 10.0
29 rickets 10.0
30 tethered spinal cord syndrome 10.0
31 respiratory failure 10.0
32 peripheral retinal degeneration 10.0
33 diarrhea 10.0
34 myelophthisic anemia 10.0
35 agammaglobulinemia 10.0
36 retinal degeneration 10.0
37 diencephalic syndrome 10.0
38 hypotonia 10.0
39 medullary sponge kidney 9.9 ATP6V1B1 ATP6V0A4
40 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 9.9 ATP6V1B1 ATP6V0A4
41 hypogonadotropic hypogonadism 2 with or without anosmia 9.9 ATP6V1B1 ATP6V0A4
42 renal tubular transport disease 9.8 ATP6V1B1 ATP6V0A4
43 axial osteomalacia 9.8 TCIRG1 CLCN7
44 fibrogenesis imperfecta ossium 9.8 TCIRG1 CLCN7
45 osteopetrosis, autosomal recessive 8 9.8 TCIRG1 CLCN7
46 beach ear 9.8 TCIRG1 CLCN7
47 osteopetrosis, autosomal recessive 2 9.8 TCIRG1 CLCN7
48 osteopetrosis, autosomal dominant 2 9.8 TCIRG1 CLCN7
49 hereditary elliptocytosis 9.8 ATP6V1B1 ATP6V0A4
50 pycnodysostosis 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:

30 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 30 Very rare (1%) HP:0000256
2 hydrocephalus 30 Very rare (1%) HP:0000238
3 splenomegaly 30 Very rare (1%) HP:0001744
4 hepatomegaly 30 Very rare (1%) HP:0002240
5 visual impairment 30 Very rare (1%) HP:0000505
6 optic atrophy 30 Very rare (1%) HP:0000648
7 cranial nerve paralysis 30 Very rare (1%) HP:0006824
8 anemia 30 Very rare (1%) HP:0001903
9 thrombocytopenia 30 Very rare (1%) HP:0001873
10 hypocalcemia 30 Very rare (1%) HP:0002901
11 craniosynostosis 30 Very rare (1%) HP:0001363
12 osteopetrosis 30 Very rare (1%) HP:0011002
13 calvarial osteosclerosis 30 Very rare (1%) HP:0005450
14 increased circulating lactate dehydrogenase concentration 30 Very rare (1%) HP:0025435
15 elevated circulating alkaline phosphatase concentration 30 Very rare (1%) HP:0003155
16 femur fracture 30 Very rare (1%) HP:0031846
17 seizure 30 HP:0001250
18 failure to thrive 30 HP:0001508
19 frontal bossing 30 HP:0002007
20 nystagmus 30 HP:0000639
21 facial palsy 30 HP:0010628
22 hearing impairment 30 HP:0000365
23 carious teeth 30 HP:0000670
24 blindness 30 HP:0000618
25 tetany 30 HP:0001281
26 osteomyelitis 30 HP:0002754
27 ophthalmoparesis 30 HP:0000597
28 coxa vara 30 HP:0002812
29 pancytopenia 30 HP:0001876
30 pathologic fracture 30 HP:0002756
31 flared metaphysis 30 HP:0003015
32 facial paralysis 30 HP:0007209
33 sandwich appearance of vertebral bodies 30 HP:0004618

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly

Head And Neck Face:
frontal bossing
facial paralysis

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
elevated serum phosphorus
low serum calcium

Head And Neck Ears:
deafness

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

Growth Weight:
failure to thrive

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 (Updated 08-Dec-2022)

UMLS symptoms related to Osteopetrosis, Autosomal Recessive 1:


ophthalmoplegia

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 taste/olfaction MP:0005394 8.62 ATP6V0A4 ATP6V1B1

Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 1

Drugs for Osteopetrosis, Autosomal Recessive 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Experimental, Investigational Phase 1 68538-85-2, 58-05-9, 73951-54-9 149436 6006

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I Clinical Trial for Gene Therapy in Infantile Malignant Osteopetrosis (IMO) to Evaluate the Safety and Preliminary Efficacy of Autologous CD34+ Enriched Cells Transduced With a LV Vector Encoding the TCIRG1 Gene Terminated NCT04525352 Phase 1

Search 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 Autosomal Recessive Osteopetrosis 1 28 TCIRG1

Anatomical Context for Osteopetrosis, Autosomal Recessive 1

Organs/tissues related to Osteopetrosis, Autosomal Recessive 1:

MalaCards : Bone, Bone Marrow, Spleen, Liver, Neutrophil, Brain
ODiseA: Blood And Bone Marrow

Publications for Osteopetrosis, Autosomal Recessive 1

Articles related to Osteopetrosis, Autosomal Recessive 1:

(show top 50) (show all 123)
# Title Authors PMID Year
1
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. 62 57 5
10942435 2000
2
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. 62 57 5
10888887 2000
3
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. 57 5
12566520 2003
4
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis. 62 5
30539151 2018
5
Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis. 62 5
24101165 2014
6
Infantile malignant osteopetrosis. 62 5
23721911 2013
7
Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients. 62 5
21042819 2011
8
A single-center experience in 20 patients with infantile malignant osteopetrosis. 62 5
19507210 2009
9
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. 62 5
12552563 2003
10
Allogeneic bone-marrow transplantation in infantile malignant osteopetrosis. 62 57
6131166 1983
11
Successful bone-marrow transplantation for infantile malignant osteopetrosis. 62 57
6986555 1980
12
TCIRG1 Transgenic Rescue of Osteoclast Function Using Induced Pluripotent Stem Cells Derived from Patients with Infantile Malignant Autosomal Recessive Osteopetrosis. 5
31567691 2019
13
Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy. 5
26777052 2015
14
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. 5
25829125 2015
15
A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population. 5
24989235 2015
16
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
17
Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis. 5
24535484 2014
18
Malignant infantile osteopetrosis: case report with review of literature. 5
25018813 2014
19
Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications. 5
22231430 2012
20
An SNX10 mutation causes malignant osteopetrosis of infancy. 57
22499339 2012
21
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. 5
18715141 2009
22
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. 5
15300850 2004
23
Hematopoietic cells and osteoblasts are derived from a common marrow progenitor after bone marrow transplantation. 57
15282377 2004
24
Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis. 5
12507890 2003
25
Molecular genetics of too much bone. 57
12351574 2002
26
The mutational spectrum of human malignant autosomal recessive osteopetrosis. 5
11532986 2001
27
Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. 57
9700194 1998
28
Demonstration of an osteoblast defect in two cases of human malignant osteopetrosis. Correction of the phenotype after bone marrow transplant. 57
8878435 1996
29
Long-term treatment of osteopetrosis with recombinant human interferon gamma. 57
7753137 1995
30
Prenatal diagnosis of autosomal recessive osteopetrosis, infantile type, by X-ray evaluation. 57
7644439 1995
31
Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group. 57
7996361 1994
32
Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families. 57
8291528 1993
33
Combination macrophage-colony stimulating factor and interferon-gamma administration ameliorates the osteopetrotic condition in microphthalmic (mi/mi) mice. 57
8479820 1993
34
Recombinant human interferon gamma therapy for osteopetrosis. 57
1320672 1992
35
Circulating macrophage colony-stimulating factor is not reduced in malignant osteopetrosis. 57
1577090 1992
36
Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma. 57
2838754 1988
37
Osteopetrosis. A genetic and epidemiological study. 57
3829443 1987
38
Neutrophil defect associated with malignant infantile osteopetrosis. 57
3021878 1986
39
Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985. 57
2877234 1986
40
Treatment of congenital osteopetrosis with high-dose calcitriol. 57
6546410 1984
41
Marrow transplantation for juvenile osteopetrosis. 57
7015858 1981
42
Osteopetrosis in children: a report of 26 cases. 57
874663 1977
43
Bone resorption restored in osteopetrotic mice by transplants of normal bone marrow and spleen cells. 57
1105786 1975
44
Spleen cells transmit osteopetrosis in mice. 57
1198094 1975
45
Therapeutic studies in osteopetrosis. Report of 4 cases. 57
5378349 1969
46
Retinal atrophy in osteopetrosis. 57
4170880 1968
47
Malignant congenital osteopetrosis resulting from a consanguineous marriage. 57
13985134 1962
48
Studies on osteopetrosis. 1. Clinical report of three cases with genetic considerations. 57
13532685 1958
49
About the genetics of the simple recessive forms of marble bone disease and two corresponding family trees from Switzerland. 57
18865120 1948
50
Case report of mild TCIRG1-associated autosomal recessive osteopetrosis in Vietnam. 62
35915932 2022

Variations for Osteopetrosis, Autosomal Recessive 1

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 1:

5 (show top 50) (show all 305)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TCIRG1 NM_006019.4(TCIRG1):c.922del (p.Gln308fs) DEL Pathogenic
5459 rs1554996130 GRCh37: 11:67811712-67811712
GRCh38: 11:68044245-68044245
2 TCIRG1 NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter) SNV Pathogenic
5460 rs137853149 GRCh37: 11:67815200-67815200
GRCh38: 11:68047733-68047733
3 TCIRG1 NM_006019.4(TCIRG1):c.1674G>A (p.Val558=) SNV Pathogenic
5461 rs745971874 GRCh37: 11:67816548-67816548
GRCh38: 11:68049081-68049081
4 TCIRG1 NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) SNV Pathogenic
5464 rs137853151 GRCh37: 11:67815139-67815139
GRCh38: 11:68047672-68047672
5 TCIRG1 NM_006019.4(TCIRG1):c.649_674del (p.Trp216_Met217insTer) DEL Pathogenic
5465 GRCh37: 11:67811056-67811081
GRCh38: 11:68043587-68043612
6 TCIRG1 NM_006019.4(TCIRG1):c.1384_1386del (p.Asn462del) DEL Pathogenic
1065117 GRCh37: 11:67815190-67815192
GRCh38: 11:68047723-68047725
7 TCIRG1 NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) SNV Pathogenic
553240 rs748659068 GRCh37: 11:67817721-67817721
GRCh38: 11:68050254-68050254
8 TCIRG1 NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter) SNV Pathogenic
557398 rs1489993984 GRCh37: 11:67815010-67815010
GRCh38: 11:68047543-68047543
9 TCIRG1 NM_006019.4(TCIRG1):c.2236+1G>A SNV Pathogenic
558226 rs1475338876 GRCh37: 11:67817722-67817722
GRCh38: 11:68050255-68050255
10 TCIRG1 NM_006019.4(TCIRG1):c.1554+2T>A SNV Pathogenic
852649 rs761918801 GRCh37: 11:67815441-67815441
GRCh38: 11:68047974-68047974
11 TCIRG1 NM_006019.4(TCIRG1):c.553del (p.Leu185fs) DEL Pathogenic
978470 rs1855280375 GRCh37: 11:67810886-67810886
GRCh38: 11:68043419-68043419
12 TCIRG1 NM_006019.4(TCIRG1):c.971dup (p.Cys324fs) DUP Pathogenic
1452934 rs1565156743 GRCh37: 11:67811761-67811762
GRCh38: 11:68044294-68044295
13 TCIRG1 NM_006019.4(TCIRG1):c.807+2T>G SNV Pathogenic
1684665 GRCh37: 11:67811376-67811376
GRCh38: 11:68043909-68043909
14 TCIRG1 NM_006019.4(TCIRG1):c.2014-1G>A SNV Pathogenic
1684666 GRCh37: 11:67817428-67817428
GRCh38: 11:68049961-68049961
15 TCIRG1 NM_006019.4(TCIRG1):c.1165+1G>C SNV Pathogenic
1684667 GRCh37: 11:67812570-67812570
GRCh38: 11:68045103-68045103
16 TCIRG1 NM_006019.4(TCIRG1):c.969G>A (p.Trp323Ter) SNV Pathogenic
1684673 GRCh37: 11:67811760-67811760
GRCh38: 11:68044293-68044293
17 TCIRG1 NM_006019.4(TCIRG1):c.2236+1G>C SNV Pathogenic
1684679 GRCh37: 11:67817722-67817722
GRCh38: 11:68050255-68050255
18 TCIRG1 NM_006019.4(TCIRG1):c.1885C>T (p.Gln629Ter) SNV Pathogenic
1684680 GRCh37: 11:67816759-67816759
GRCh38: 11:68049292-68049292
19 TCIRG1 NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter) SNV Pathogenic
1460225 GRCh37: 11:67811095-67811095
GRCh38: 11:68043628-68043628
20 TCIRG1 NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter) SNV Pathogenic
830066 rs776436008 GRCh37: 11:67812518-67812518
GRCh38: 11:68045051-68045051
21 TCIRG1 NM_006019.4(TCIRG1):c.630+2T>C SNV Pathogenic
551426 rs1392364437 GRCh37: 11:67810966-67810966
GRCh38: 11:68043499-68043499
22 TCIRG1 NM_006019.4(TCIRG1):c.196+1G>T SNV Pathogenic
1068056 GRCh37: 11:67809299-67809299
GRCh38: 11:68041832-68041832
23 TCIRG1 NM_006019.4(TCIRG1):c.504-6C>A SNV Pathogenic
1217234 GRCh37: 11:67810832-67810832
GRCh38: 11:68043365-68043365
24 TCIRG1 NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs) DEL Pathogenic
1075994 GRCh37: 11:67817703-67817704
GRCh38: 11:68050236-68050237
25 TCIRG1 NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) SNV Pathogenic
551284 rs371263807 GRCh37: 11:67817250-67817250
GRCh38: 11:68049783-68049783
26 TCIRG1 NM_006019.4(TCIRG1):c.1674-1G>A SNV Pathogenic
189246 rs139617644 GRCh37: 11:67816547-67816547
GRCh38: 11:68049080-68049080
27 TCIRG1 NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) SNV Pathogenic/Likely Pathogenic
5463 rs137853150 GRCh37: 11:67814947-67814947
GRCh38: 11:68047480-68047480
28 TCIRG1 NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) SNV Pathogenic/Likely Pathogenic
552227 rs137853150 GRCh37: 11:67814947-67814947
GRCh38: 11:68047480-68047480
29 TCIRG1 NM_006019.4(TCIRG1):c.480dup (p.Pro161fs) DUP Pathogenic/Likely Pathogenic
556585 rs1554995341 GRCh37: 11:67810469-67810470
GRCh38: 11:68043002-68043003
30 TCIRG1 NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) SNV Pathogenic/Likely Pathogenic
995579 rs1855655612 GRCh37: 11:67816558-67816558
GRCh38: 11:68049091-68049091
31 TCIRG1 NM_006019.4(TCIRG1):c.1887+1G>C SNV Likely Pathogenic
558282 rs1554999205 GRCh37: 11:67816762-67816762
GRCh38: 11:68049295-68049295
32 TCIRG1 NM_006019.4(TCIRG1):c.1305+2T>C SNV Likely Pathogenic
557548 rs1554997818 GRCh37: 11:67815041-67815041
GRCh38: 11:68047574-68047574
33 TCIRG1 NM_006019.4(TCIRG1):c.1306-1G>A SNV Likely Pathogenic
554018 rs1554997884 GRCh37: 11:67815113-67815113
GRCh38: 11:68047646-68047646
34 TCIRG1 NM_006019.4(TCIRG1):c.1346_1351del (p.Leu449_Gly451delinsArg) DEL Likely Pathogenic
1172520 GRCh37: 11:67815154-67815159
GRCh38: 11:68047687-68047692
35 TCIRG1 NM_006019.4(TCIRG1):c.862_866delinsG (p.Leu288fs) INDEL Likely Pathogenic
965527 rs1855343916 GRCh37: 11:67811653-67811657
GRCh38: 11:68044186-68044190
36 TCIRG1 NM_006019.4(TCIRG1):c.117+4A>T SNV Likely Pathogenic
5462 rs751881962 GRCh37: 11:67808859-67808859
GRCh38: 11:68041392-68041392
37 TCIRG1 NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) SNV Likely Pathogenic
550832 rs749361897 GRCh37: 11:67811770-67811770
GRCh38: 11:68044303-68044303
38 TCIRG1 NM_006019.4(TCIRG1):c.1555-2A>C SNV Likely Pathogenic
551487 rs758977199 GRCh37: 11:67816344-67816344
GRCh38: 11:68048877-68048877
39 TCIRG1 NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) SNV Likely Pathogenic
552835 rs1338631330 GRCh37: 11:67810259-67810259
GRCh38: 11:68042792-68042792
40 TCIRG1 NM_006019.4(TCIRG1):c.242del (p.Pro81fs) DEL Likely Pathogenic
551450 rs1208311085 GRCh37: 11:67810151-67810151
GRCh38: 11:68042684-68042684
41 TCIRG1 NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs) DEL Likely Pathogenic
551799 rs1554995522 GRCh37: 11:67810885-67810898
GRCh38: 11:68043418-68043431
42 TCIRG1 NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter) SNV Likely Pathogenic
552024 rs1554995009 GRCh37: 11:67810118-67810118
GRCh38: 11:68042651-68042651
43 TCIRG1 NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter) SNV Likely Pathogenic
371557 rs1057517365 GRCh37: 11:67816350-67816350
GRCh38: 11:68048883-68048883
44 TCIRG1 NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs) DUP Likely Pathogenic
550871 rs1554998061 GRCh37: 11:67815241-67815242
GRCh38: 11:68047774-68047775
45 TCIRG1 NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs) DUP Likely Pathogenic
551059 rs1554999516 GRCh37: 11:67817129-67817130
GRCh38: 11:68049662-68049663
46 TCIRG1 NM_006019.4(TCIRG1):c.-5+1G>T SNV Likely Pathogenic
553850 rs917505107 GRCh37: 11:67806587-67806587
GRCh38: 11:68039120-68039120
47 TCIRG1 NM_006019.4(TCIRG1):c.2415-2A>G SNV Likely Pathogenic
554390 rs1555000376 GRCh37: 11:67818206-67818206
GRCh38: 11:68050739-68050739
48 TCIRG1 NM_006019.4(TCIRG1):c.1554+1G>T SNV Likely Pathogenic
554456 rs1439348400 GRCh37: 11:67815440-67815440
GRCh38: 11:68047973-68047973
49 TCIRG1 NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter) SNV Likely Pathogenic
554751 rs1554995330 GRCh37: 11:67810461-67810461
GRCh38: 11:68042994-68042994
50 TCIRG1 NM_006019.4(TCIRG1):c.807+1G>T SNV Likely Pathogenic
553582 rs1458295257 GRCh37: 11:67811375-67811375
GRCh38: 11:68043908-68043908

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4
2 12.3 TCIRG1 ATP6V1B1 ATP6V0A4
3
Show member pathways
12.12 TCIRG1 ATP6V1B1 ATP6V0A4
4
Show member pathways
11.56 TCIRG1 ATP6V1B1 ATP6V0A4
5
Show member pathways
11.39 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4
6 11.12 ATP6V1B1 ATP6V0A4
7 10 TCIRG1 CLCN7

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 apical plasma membrane GO:0016324 9.85 TCIRG1 ATP6V1B1 ATP6V0A4
2 lysosomal membrane GO:0005765 9.8 TCIRG1 CLCN7 ATP6V0A4
3 phagocytic vesicle membrane GO:0030670 9.71 TCIRG1 ATP6V0A4
4 proton-transporting V-type ATPase complex GO:0033176 9.56 TCIRG1 ATP6V0A4
5 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 9.46 TCIRG1 ATP6V0A4
6 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.1 TCIRG1 ATP6V1B1 ATP6V0A4
7 proton-transporting V-type ATPase, V0 domain GO:0033179 8.96 TCIRG1 ATP6V0A4

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

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.88 TCIRG1 ATP6V1B1 ATP6V0A4
2 ossification GO:0001503 9.8 TCIRG1 ATP6V1B1 ATP6V0A4
3 regulation of pH GO:0006885 9.76 ATP6V1B1 ATP6V0A4
4 intracellular pH reduction GO:0051452 9.61 TCIRG1 ATP6V0A4
5 monoatomic ion transport GO:0006811 9.56 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4
6 pH reduction GO:0045851 9.46 TCIRG1 ATP6V1B1
7 synaptic vesicle lumen acidification GO:0097401 9.37 ATP6V1B1 ATP6V0A4
8 renal tubular secretion GO:0097254 9.26 ATP6V1B1 ATP6V0A4
9 vacuolar acidification GO:0007035 9.1 TCIRG1 ATP6V1B1 ATP6V0A4

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 9.26 TCIRG1 ATP6V0A4
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.1 TCIRG1 ATP6V1B1 ATP6V0A4

Sources for Osteopetrosis, Autosomal Recessive 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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