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OPTB1
MCID: OST126
MIFTS: 38

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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Osteopetrosis, Autosomal Recessive 1

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MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 1:

Name: Osteopetrosis, Autosomal Recessive 1 58 76 13 74
Optb1 58 12 54 76
Osteopetrosis Autosomal Recessive 1 54 30 6
Autosomal Recessive Albers-Schonberg Disease 12 76
Infantile Malignant Osteopetrosis 76 74
Albers-Schonberg Disease, Autosomal Recessive 58
Osteopetrosis, Autosomal Recessive, Type 1 41
Autosomal Recessive Osteopetrosis Type 1 54
Osteopetrosis, Infantile Malignant 1 58
Autosomal Recessive Osteopetrosis 1 12
Infantile Malignant Osteopetrosis 1 12
Osteopetrosis Infantile Malignant 1 54
Marble Bones, Autosomal Recessive 58
Marble Bones Autosomal Recessive 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see )


HPO:

33
osteopetrosis, autosomal recessive 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Eye diseases Neuronal diseases Immune diseases Nephrological diseases Blood diseases Liver diseases
See all MalaCards categories (disease lists)


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Summaries for Osteopetrosis, Autosomal Recessive 1

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OMIM : 58 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 osteopetrosis, autosomal recessive 5 and autosomal recessive malignant osteopetrosis, 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). 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 : 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.

UniProtKB/Swiss-Prot : 76 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.

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Related Diseases for Osteopetrosis, Autosomal Recessive 1

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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 all 12)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 5 12.0
2 autosomal recessive malignant osteopetrosis 11.8
3 osteopetrosis, autosomal recessive 4 11.4
4 osteopetrosis 10.8
5 hematopoietic stem cell transplantation 10.1
6 pulmonary hypertension, primary, 1 10.0
7 juvenile myelomonocytic leukemia 10.0
8 choanal atresia, posterior 10.0
9 leukemia 10.0
10 thrombocytopenia 10.0
11 osteomyelitis 10.0
12 rickets 10.0

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



Diseases related to Osteopetrosis, Autosomal Recessive 1
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Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 1

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Human phenotypes related to Osteopetrosis, Autosomal Recessive 1:

33 (show all 25)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 frontal bossing 33 HP:0002007
3 hydrocephalus 33 HP:0000238
4 nystagmus 33 HP:0000639
5 seizures 33 HP:0001250
6 failure to thrive 33 HP:0001508
7 facial palsy 33 HP:0010628
8 hearing impairment 33 HP:0000365
9 splenomegaly 33 HP:0001744
10 hepatomegaly 33 HP:0002240
11 carious teeth 33 HP:0000670
12 optic atrophy 33 HP:0000648
13 blindness 33 HP:0000618
14 anemia 33 HP:0001903
15 pancytopenia 33 HP:0001876
16 pathologic fracture 33 HP:0002756
17 ophthalmoparesis 33 HP:0000597
18 tetany 33 HP:0001281
19 osteomyelitis 33 HP:0002754
20 coxa vara 33 HP:0002812
21 osteopetrosis 33 HP:0011002
22 elevated alkaline phosphatase 33 HP:0003155
23 flared metaphysis 33 HP:0003015
24 facial paralysis 33 HP:0007209
25 sandwich appearance of vertebral bodies 33 HP:0004618

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

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

Growth Weight:
failure to thrive

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 Teeth:
dental caries
distorted primary molars

Skeletal Spine:
sandwich appearance of vertebral bodies

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

Head And Neck Ears:
deafness

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

Skeletal Limbs:
splayed metaphyses

Clinical features from OMIM:

259700

UMLS symptoms related to Osteopetrosis, Autosomal Recessive 1:


ophthalmoplegia
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Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 1

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

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Genetic Tests for Osteopetrosis, Autosomal Recessive 1

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Genetic tests related to Osteopetrosis, Autosomal Recessive 1:

# Genetic test Affiliating Genes
1 Osteopetrosis Autosomal Recessive 1 30 TCIRG1
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Anatomical Context for Osteopetrosis, Autosomal Recessive 1

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

42
Bone, Bone Marrow, Liver, Spleen, T Cells
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Publications for Osteopetrosis, Autosomal Recessive 1

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Articles related to Osteopetrosis, Autosomal Recessive 1:

(show all 35)
# Title Authors Year
1
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. ( 29926385 )
2018
2
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis. ( 30539151 )
2018
3
Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis. ( 28726516 )
2017
4
[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis]. ( 28604959 )
2017
5
Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy. ( 27541021 )
2016
6
Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning. ( 26485304 )
2015
7
Identification and Characterization of Mutations in the CLCN7 Gene in a Taiwanese Patient with Infantile Malignant Osteopetrosis. ( 26365571 )
2015
8
A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient. ( 26477479 )
2015
9
Unmistakable Morphology? Infantile Malignant Osteopetrosis Resembling Juvenile Myelomonocytic Leukemia in Infants. ( 25982139 )
2015
10
A fatal case of infantile malignant osteopetrosis complicated by pulmonary arterial hypertension after hematopoietic stem cell transplantation. ( 25504019 )
2014
11
Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis. ( 24101165 )
2013
12
Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis. ( 23907031 )
2013
13
Infantile malignant osteopetrosis. ( 23721911 )
2013
14
Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia. ( 23329773 )
2012
15
Infantile malignant osteopetrosis: report of 2 cases with osteomyelitis of the jaws. ( 22828766 )
2012
16
Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients. ( 21042819 )
2011
17
Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis. ( 20424301 )
2010
18
Osteopetrorickets: infantile malignant osteopetrosis paradoxically complicated by rickets. ( 19756570 )
2010
19
A single-center experience in 20 patients with infantile malignant osteopetrosis. ( 19507210 )
2009
20
Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis. ( 18946580 )
2008
21
Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia. ( 15116126 )
2004
22
Hematological defects in the oc/oc mouse, a model of infantile malignant osteopetrosis. ( 15284856 )
2004
23
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. ( 12552563 )
2003
24
Infantile Malignant Osteopetrosis: Delay in Diagnosis Eliminates Chance of Cure. ( 27265338 )
2003
25
Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis. ( 11856654 )
2002
26
Infantile Malignant Osteopetrosis: Delay in Diagnosis Eliminates Chance of Cure. ( 27264978 )
2002
27
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. ( 10942435 )
2000
28
Distal phalangeal resorption in an adult with infantile malignant osteopetrosis: a case report. ( 9523972 )
1998
29
Bone marrow transplantation for infantile malignant osteopetrosis. ( 7583393 )
1995
30
Infantile malignant osteopetrosis presenting as bilateral choanal atresia: Report of two cases. ( 17588000 )
1993
31
Chorioretinal degeneration in infantile malignant osteopetrosis. ( 2368817 )
1990
32
Successful treatment of infantile malignant osteopetrosis by bone-marrow transplantation. A case report. ( 3281954 )
1988
33
Allogeneic bone-marrow transplantation in infantile malignant osteopetrosis. ( 6131166 )
1983
34
The pathogenesis of infantile malignant osteopetrosis: bone mineral metabolism and complications in five infants. ( 6270498 )
1981
35
Successful bone-marrow transplantation for infantile malignant osteopetrosis. ( 6986555 )
1980
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Variations for Osteopetrosis, Autosomal Recessive 1

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

76
# 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

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 1:

6 (show top 50) (show all 156)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCIRG1 NM_006019.3(TCIRG1): c.1674-1G> A single nucleotide variant Pathogenic rs139617644 GRCh37 Chromosome 11, 67816547: 67816547
2 TCIRG1 NM_006019.3(TCIRG1): c.1674-1G> A single nucleotide variant Pathogenic rs139617644 GRCh38 Chromosome 11, 68049080: 68049080
3 TCIRG1 NM_006019.3(TCIRG1): c.922del (p.Gln308Serfs) deletion Pathogenic rs1554996130 GRCh38 Chromosome 11, 68044246: 68044246
4 TCIRG1 NM_006019.3(TCIRG1): c.922del (p.Gln308Serfs) deletion Pathogenic rs1554996130 GRCh37 Chromosome 11, 67811713: 67811713
5 TCIRG1 NM_006019.3(TCIRG1): c.1392C> A (p.Cys464Ter) single nucleotide variant Pathogenic rs137853149 GRCh37 Chromosome 11, 67815200: 67815200
6 TCIRG1 NM_006019.3(TCIRG1): c.1392C> A (p.Cys464Ter) single nucleotide variant Pathogenic rs137853149 GRCh38 Chromosome 11, 68047733: 68047733
7 TCIRG1 NM_006019.3(TCIRG1): c.1674G> A (p.Val558=) single nucleotide variant Pathogenic rs745971874 GRCh38 Chromosome 11, 68049081: 68049081
8 TCIRG1 NM_006019.3(TCIRG1): c.1674G> A (p.Val558=) single nucleotide variant Pathogenic rs745971874 GRCh37 Chromosome 11, 67816548: 67816548
9 TCIRG1 NM_006019.3(TCIRG1): c.117+4A> T single nucleotide variant Likely pathogenic rs751881962 GRCh38 Chromosome 11, 68041392: 68041392
10 TCIRG1 NM_006019.3(TCIRG1): c.117+4A> T single nucleotide variant Likely pathogenic rs751881962 GRCh37 Chromosome 11, 67808859: 67808859
11 TCIRG1 NM_006019.3(TCIRG1): c.1213G> A (p.Gly405Arg) single nucleotide variant Pathogenic rs137853150 GRCh37 Chromosome 11, 67814947: 67814947
12 TCIRG1 NM_006019.3(TCIRG1): c.1213G> A (p.Gly405Arg) single nucleotide variant Pathogenic rs137853150 GRCh38 Chromosome 11, 68047480: 68047480
13 TCIRG1 NM_006019.3(TCIRG1): c.1331G> T (p.Arg444Leu) single nucleotide variant Pathogenic rs137853151 GRCh37 Chromosome 11, 67815139: 67815139
14 TCIRG1 NM_006019.3(TCIRG1): c.1331G> T (p.Arg444Leu) single nucleotide variant Pathogenic rs137853151 GRCh38 Chromosome 11, 68047672: 68047672
15 TCIRG1 NM_006019.3(TCIRG1): c.649_674del (p.Met217Terfs) deletion Pathogenic GRCh38 Chromosome 11, 68043589: 68043614
16 TCIRG1 NM_006019.3(TCIRG1): c.649_674del (p.Met217Terfs) deletion Pathogenic GRCh37 Chromosome 11, 67811056: 67811081
17 TCIRG1 NM_006019.3(TCIRG1): c.1249G> A (p.Ala417Thr) single nucleotide variant Uncertain significance rs140963213 GRCh37 Chromosome 11, 67814983: 67814983
18 TCIRG1 NM_006019.3(TCIRG1): c.1249G> A (p.Ala417Thr) single nucleotide variant Uncertain significance rs140963213 GRCh38 Chromosome 11, 68047516: 68047516
19 TCIRG1 NM_006019.3(TCIRG1): c.303_309delGGAGCGC (p.Glu102Trpfs) deletion Conflicting interpretations of pathogenicity rs886048594 GRCh38 Chromosome 11, 68042749: 68042755
20 TCIRG1 NM_006019.3(TCIRG1): c.303_309delGGAGCGC (p.Glu102Trpfs) deletion Conflicting interpretations of pathogenicity rs886048594 GRCh37 Chromosome 11, 67810216: 67810222
21 TCIRG1 NM_006019.3(TCIRG1): c.1297C> T (p.Gln433Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs777785526 GRCh37 Chromosome 11, 67815031: 67815031
22 TCIRG1 NM_006019.3(TCIRG1): c.1297C> T (p.Gln433Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs777785526 GRCh38 Chromosome 11, 68047564: 68047564
23 TCIRG1 NM_006019.3(TCIRG1): c.1800C> T (p.Ala600=) single nucleotide variant Conflicting interpretations of pathogenicity rs145144233 GRCh37 Chromosome 11, 67816674: 67816674
24 TCIRG1 NM_006019.3(TCIRG1): c.1800C> T (p.Ala600=) single nucleotide variant Conflicting interpretations of pathogenicity rs145144233 GRCh38 Chromosome 11, 68049207: 68049207
25 TCIRG1 NM_006019.3(TCIRG1): c.1559G> A (p.Trp520Ter) single nucleotide variant Likely pathogenic rs1057517365 GRCh38 Chromosome 11, 68048883: 68048883
26 TCIRG1 NM_006019.3(TCIRG1): c.1559G> A (p.Trp520Ter) single nucleotide variant Likely pathogenic rs1057517365 GRCh37 Chromosome 11, 67816350: 67816350
27 TCIRG1 NM_006019.3(TCIRG1): c.1087C> T (p.Arg363Cys) single nucleotide variant Uncertain significance rs375809635 GRCh38 Chromosome 11, 68045024: 68045024
28 TCIRG1 NM_006019.3(TCIRG1): c.1087C> T (p.Arg363Cys) single nucleotide variant Uncertain significance rs375809635 GRCh37 Chromosome 11, 67812491: 67812491
29 TCIRG1 NM_006019.3(TCIRG1): c.242delC (p.Pro81Argfs) deletion Likely pathogenic rs1208311085 GRCh37 Chromosome 11, 67810150: 67810151
30 TCIRG1 NM_006019.3(TCIRG1): c.242delC (p.Pro81Argfs) deletion Likely pathogenic rs1208311085 GRCh38 Chromosome 11, 68042688: 68042688
31 TCIRG1 NM_006019.3(TCIRG1): c.479_480delGGinsT (p.Gly160Valfs) indel Likely pathogenic rs1554995350 GRCh37 Chromosome 11, 67810473: 67810475
32 TCIRG1 NM_006019.3(TCIRG1): c.479_480delGGinsT (p.Gly160Valfs) indel Likely pathogenic rs1554995350 GRCh38 Chromosome 11, 68043007: 68043008
33 TCIRG1 NM_006019.3(TCIRG1): c.480dup (p.Pro161Alafs) duplication Likely pathogenic rs1554995341 GRCh37 Chromosome 11, 67810469: 67810469
34 TCIRG1 NM_006019.3(TCIRG1): c.480dup (p.Pro161Alafs) duplication Likely pathogenic rs1554995341 GRCh38 Chromosome 11, 68043008: 68043008
35 TCIRG1 NM_006019.3(TCIRG1): c.649A> G (p.Met217Val) single nucleotide variant Uncertain significance rs1554995659 GRCh37 Chromosome 11, 67811056: 67811056
36 TCIRG1 NM_006019.3(TCIRG1): c.649A> G (p.Met217Val) single nucleotide variant Uncertain significance rs1554995659 GRCh38 Chromosome 11, 68043589: 68043589
37 TCIRG1 NM_006019.3(TCIRG1): c.707C> T (p.Thr236Met) single nucleotide variant Uncertain significance rs116001129 GRCh37 Chromosome 11, 67811114: 67811114
38 TCIRG1 NM_006019.3(TCIRG1): c.707C> T (p.Thr236Met) single nucleotide variant Uncertain significance rs116001129 GRCh38 Chromosome 11, 68043647: 68043647
39 TCIRG1 NM_006019.3(TCIRG1): c.713+1G> T single nucleotide variant Likely pathogenic rs774308815 GRCh37 Chromosome 11, 67811121: 67811121
40 TCIRG1 NM_006019.3(TCIRG1): c.713+1G> T single nucleotide variant Likely pathogenic rs774308815 GRCh38 Chromosome 11, 68043654: 68043654
41 TCIRG1 NM_006019.3(TCIRG1): c.725A> G (p.His242Arg) single nucleotide variant Uncertain significance rs759557477 GRCh37 Chromosome 11, 67811292: 67811292
42 TCIRG1 NM_006019.3(TCIRG1): c.725A> G (p.His242Arg) single nucleotide variant Uncertain significance rs759557477 GRCh38 Chromosome 11, 68043825: 68043825
43 TCIRG1 NM_006019.3(TCIRG1): c.807+1G> T single nucleotide variant Likely pathogenic rs1458295257 GRCh37 Chromosome 11, 67811375: 67811375
44 TCIRG1 NM_006019.3(TCIRG1): c.807+1G> T single nucleotide variant Likely pathogenic rs1458295257 GRCh38 Chromosome 11, 68043908: 68043908
45 TCIRG1 NM_006019.3(TCIRG1): c.1306-1G> A single nucleotide variant Likely pathogenic rs1554997884 GRCh37 Chromosome 11, 67815113: 67815113
46 TCIRG1 NM_006019.3(TCIRG1): c.1306-1G> A single nucleotide variant Likely pathogenic rs1554997884 GRCh38 Chromosome 11, 68047646: 68047646
47 TCIRG1 NM_006019.3(TCIRG1): c.1372G> A (p.Gly458Ser) single nucleotide variant Uncertain significance rs200851583 GRCh37 Chromosome 11, 67815180: 67815180
48 TCIRG1 NM_006019.3(TCIRG1): c.1372G> A (p.Gly458Ser) single nucleotide variant Uncertain significance rs200851583 GRCh38 Chromosome 11, 68047713: 68047713
49 TCIRG1 NM_006019.3(TCIRG1): c.1435_1438dup (p.Ala480Glyfs) duplication Likely pathogenic rs1554998061 GRCh37 Chromosome 11, 67815241: 67815241
50 TCIRG1 NM_006019.3(TCIRG1): c.1435_1438dup (p.Ala480Glyfs) duplication Likely pathogenic rs1554998061 GRCh38 Chromosome 11, 68047776: 68047779
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Expression for Osteopetrosis, Autosomal Recessive 1

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

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GO Terms for Osteopetrosis, Autosomal Recessive 1

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Sources for Osteopetrosis, Autosomal Recessive 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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