OPTB3
MCID: OST163
MIFTS: 54

Osteopetrosis, Autosomal Recessive 3 (OPTB3)

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 3

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 3:

Name: Osteopetrosis, Autosomal Recessive 3 56 73 71
Osteopetrosis with Renal Tubular Acidosis 56 12 52 58 73 29 6
Marble Brain Disease 56 12 52 58 73
Guibaud-Vainsel Syndrome 56 12 58 73
Optb3 56 12 52 73
Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 56 29 13
Autosomal Recessive Osteopetrosis 3 12 15
Carbonic Anhydrase Ii Deficiency 56 12
Carbonic Anhydrase 2 Deficiency 52 58
Autosomal Recessive Osteopetrosis 3 with Renal Tubular Acidosis 12
Osteopetrosis, Autosomal Recessive, Type 3 39
Carbonic Anhydrase Ii Deficiency Syndrome 73
Autosomal Recessive Osteopetrosis Type 3 52
Osteopetrosis Autosomal Recessive 3 52
Renal Tubular Acidosis Type 3 58
Carbonic Anhydrase Ii Variant 6
Mixed Renal Tubular Acidosis 58
Guibaud Vainsel Syndrome 52
Carbonic Anhydrase 2 17
Mixed Rta 58

Characteristics:

Orphanet epidemiological data:

58
osteopetrosis with renal tubular acidosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
osteopetrosis, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Osteopetrosis, Autosomal Recessive 3

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.

MalaCards based summary : Osteopetrosis, Autosomal Recessive 3, also known as osteopetrosis with renal tubular acidosis, is related to endosteal hyperostosis, autosomal dominant and distal renal tubular acidosis. An important gene associated with Osteopetrosis, Autosomal Recessive 3 is CA2 (Carbonic Anhydrase 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and PI3K-Akt signaling pathway. The drugs carbamide peroxide and Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and bone marrow, and related phenotypes are genu valgum and abnormality of epiphysis morphology

Disease Ontology : 12 An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.

UniProtKB/Swiss-Prot : 73 Osteopetrosis, autosomal recessive 3: 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. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with mental retardation.

More information from OMIM: 259730 PS259700

Related Diseases for Osteopetrosis, Autosomal Recessive 3

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

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 endosteal hyperostosis, autosomal dominant 30.2 TCIRG1 CLCN7 CA2
2 distal renal tubular acidosis 29.5 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
3 metabolic acidosis 29.3 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
4 osteopetrosis 29.1 TCIRG1 SNX10 LRRK1 CLCN7 CA2 ATP6V0A2
5 nephrocalcinosis 28.8 SLC4A1 CLCN7 CA2 ATP6V1B1 ATP6V0A4
6 renal tubular acidosis 28.4 TCIRG1 SLC4A1 CLCN7 CA2 CA1 ATP6V1B1
7 hypokalemia 10.3
8 visual epilepsy 10.2
9 seizure disorder 10.2
10 axial osteomalacia 10.2 TCIRG1 CLCN7
11 fibrogenesis imperfecta ossium 10.2 TCIRG1 CLCN7
12 autosomal recessive disease 10.1
13 bone resorption disease 10.1
14 lung disease 10.1
15 encephalopathy 10.1
16 osteopetrosis, autosomal recessive 2 10.1 TCIRG1 CLCN7
17 cardiomyopathy, familial hypertrophic, 10 10.1 CA2 CA1
18 osteopetrosis, autosomal recessive 5 10.1 TCIRG1 CLCN7 ATP6V1B1
19 osteopetrosis, autosomal dominant 2 10.0 TCIRG1 CLCN7
20 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
21 hypophosphatemia 10.0
22 3-methylglutaconic aciduria, type iii 10.0
23 alacrima, achalasia, and mental retardation syndrome 10.0
24 pulmonary hypertension 10.0
25 sleep apnea 10.0
26 osteomalacia 10.0
27 fanconi syndrome 10.0
28 hypoparathyroidism 10.0
29 bronchiolitis 10.0
30 pseudohypoparathyroidism 10.0
31 hypotonia 10.0
32 hypoxia 10.0
33 audiogenic seizures 10.0
34 primary bone dysplasia with increased bone density 10.0
35 pycnodysostosis 10.0 TCIRG1 CLCN7
36 autosomal recessive malignant osteopetrosis 10.0 TCIRG1 SNX10 CLCN7
37 pyelonephritis 10.0
38 osteopetrosis, autosomal recessive 8 9.9 TCIRG1 SNX10 CLCN7
39 medullary sponge kidney 9.9 ATP6V1B1 ATP6V0A4
40 craniodiaphyseal dysplasia 9.9 TCIRG1 SNX10 CLCN7
41 craniometaphyseal dysplasia, autosomal dominant 9.9 TCIRG1 SNX10 CLCN7
42 bladder cancer 9.9
43 hepatocellular carcinoma 9.9
44 arterial calcification, generalized, of infancy, 1 9.9
45 myeloma, multiple 9.9
46 nasopharyngeal carcinoma 9.9
47 osteonecrosis 9.9
48 lactic acidosis 9.9
49 osteonecrosis of the jaw 9.9
50 osteopetrosis, autosomal recessive 7 9.8 TCIRG1 ATP6V1B1 ATP6V0A4

Graphical network of the top 20 diseases related to Osteopetrosis, Autosomal Recessive 3:



Diseases related to Osteopetrosis, Autosomal Recessive 3

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 3

Human phenotypes related to Osteopetrosis, Autosomal Recessive 3:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
2 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
3 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
4 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
5 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
6 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
7 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
8 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
9 reduced bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004349
10 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
11 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
12 osteopetrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011002
13 avascular necrosis 31 hallmark (90%) HP:0010885
14 abnormal renal tubule morphology 31 hallmark (90%) HP:0000091
15 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
16 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
17 dental malocclusion 58 31 frequent (33%) Frequent (79-30%) HP:0000689
18 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
19 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
20 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
21 abnormality of dental morphology 58 31 frequent (33%) Frequent (79-30%) HP:0006482
22 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
23 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
24 aseptic necrosis 58 Very frequent (99-80%)
25 short stature 31 HP:0004322
26 abnormality of the renal tubule 58 Very frequent (99-80%)
27 periodic hypokalemic paresis 31 HP:0008153
28 visual loss 31 HP:0000572
29 hepatosplenomegaly 31 HP:0001433
30 cranial hyperostosis 31 HP:0004437
31 optic nerve compression 31 HP:0007807
32 extramedullary hematopoiesis 31 HP:0001978
33 distal renal tubular acidosis 31 HP:0008341
34 basal ganglia calcification 31 HP:0002135
35 diaphyseal sclerosis 31 HP:0003034
36 elevated serum acid phosphatase 31 HP:0003148

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
dental malocclusion
cranial hyperostosis
visual impairment from optic nerve compression

Heme:
anemia
extramedullary hematopoiesis

G I:
hepatosplenomegaly

Neuro:
basal ganglion calcification
normal intelligence or mental retardation

Misc:
onset in first 2 years with fractures

Growth:
short stature

Lab:
periodic hypokalemic paresis
elevated serum acid phosphatase
renal tubular acidosis, type i
osteoclasts fail to form 'ruffled membranes' characteristic of active bone resorbing cells
carbonic anhydrase ii defect

Limbs:
diaphyseal sclerosis

Skel:
osteosclerosis

Clinical features from OMIM:

259730

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.76 ATP6V0A4 CA2 CLCN7 DYM LRRK1 SLC4A1
2 craniofacial MP:0005382 9.65 CLCN7 DYM LRRK1 SNX10 TCIRG1
3 renal/urinary system MP:0005367 9.43 ATP6V0A4 ATP6V1B1 CA2 CLCN7 DYM SLC4A1
4 skeleton MP:0005390 9.23 ATP6V0A4 ATP6V1B1 CA2 CLCN7 DYM LRRK1

Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 3

Drugs for Osteopetrosis, Autosomal Recessive 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved 124-43-6
2
Calcium Approved, Nutraceutical 7440-70-2 271
3 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460

Search NIH Clinical Center for Osteopetrosis, Autosomal Recessive 3

Genetic Tests for Osteopetrosis, Autosomal Recessive 3

Genetic tests related to Osteopetrosis, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Osteopetrosis with Renal Tubular Acidosis 29 CA2
2 Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 29

Anatomical Context for Osteopetrosis, Autosomal Recessive 3

MalaCards organs/tissues related to Osteopetrosis, Autosomal Recessive 3:

40
Bone, Brain, Bone Marrow, Eye, Kidney, Liver, Lung

Publications for Osteopetrosis, Autosomal Recessive 3

Articles related to Osteopetrosis, Autosomal Recessive 3:

(show all 36)
# Title Authors PMID Year
1
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. 56 6
12566520 2003
2
A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement. 56 6
8834238 1996
3
Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X). 56 6
7627193 1995
4
Carbonic anhydrase II deficiency in three unrelated Japanese patients. 56 6
8127074 1993
5
Molecular basis of human carbonic anhydrase II deficiency. 56 6
1542674 1992
6
A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. 56 6
1301935 1992
7
Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene. 56 6
1928091 1991
8
Osteopetrosis associated with proximal and distal tubular acidosis. 56 6
5041390 1972
9
Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. 61 56
3081869 1986
10
Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation. 61 56
3080873 1986
11
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. 61 56
3925334 1985
12
Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. 61 56
6405388 1983
13
Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. 56
9150731 1997
14
Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis. 56
9143915 1997
15
Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity? 56
2107079 1990
16
The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters. 56
3221988 1988
17
[Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases]. 56
3112731 1987
18
A chemical and enzymological comparison of the common major human erythrocyte carbonic anhydrase II, its minor component, and a new genetic variant, CA II Melbourne (237 Pro leads to His). 6
6407977 1983
19
Chemical and enzymological characterization of an Indonesian variant of human erythrocyte carbonic anhydrase II, CAII Jogjakarta (17 Lys leads to Glu). 6
6817747 1982
20
Renal tubular acidosis and osteopetrosis in siblings. 56
7312081 1981
21
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. 56
7386510 1980
22
Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families. 56
7358236 1980
23
Human carbonic anhydrases. 8. Isolation and characterization of polymorphic form of a C type isozyme. 6
4624444 1972
24
[Osteopetrosis and renal tubular acidosis. 2 cases of this association in a sibship]. 56
4661410 1972
25
Osteopetrosis with renal tubular acidosis and cerebral calcification. 61
29571443 2018
26
Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families. 61
25720518 2015
27
Carbonic anhydrase II in the developing and adult human brain. 61
16825953 2006
28
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. 61
15300855 2004
29
Identification and proteomic profiling of exosomes in human urine. 61
15326289 2004
30
Recent developments in the understanding of the pathophysiology of osteopetrosis. 61
8630510 1996
31
Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients. 61
8128957 1994
32
Carbonic anhydrase II deficiency. 61
8358947 1993
33
Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients. 61
2117271 1990
34
Positive renal response to intravenous acetazolamide in patients with carbonic anhydrase II deficiency. 61
3932950 1985
35
Failure of acetazolamide to decrease intraocular pressure in patients with carbonic anhydrase II deficiency. 61
3920916 1985
36
Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8. 61
6410391 1983

Variations for Osteopetrosis, Autosomal Recessive 3

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 3:

6 (show all 30) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CA2 NM_000067.3(CA2):c.52A>G (p.Lys18Glu)SNV Pathogenic 914 rs118203931 8:86377518-86377518 8:85465289-85465289
2 CA2 NM_000067.3(CA2):c.707C>A (p.Pro236His)SNV Pathogenic 915 rs118203932 8:86392942-86392942 8:85480713-85480713
3 CA2 NM_000067.3(CA2):c.319C>T (p.His107Tyr)SNV Pathogenic 916 rs118203933 8:86386008-86386008 8:85473779-85473779
4 CA2 CA2, IVS5AS, G-C, -1SNV Pathogenic 917
5 CA2 CA2, IVS2DS, G-A, +1SNV Pathogenic 918
6 CA2 NM_000067.3(CA2):c.120T>G (p.Tyr40Ter)SNV Pathogenic 919 rs118203934 8:86377586-86377586 8:85465357-85465357
7 CA2 CA2, 1-BP DEL, 207Cdeletion Pathogenic 920
8 CA2 NM_000067.3(CA2):c.232+1G>ASNV Pathogenic 288909 rs573750741 8:86377699-86377699 8:85465470-85465470
9 CA2 NM_000067.3(CA2):c.21C>A (p.Tyr7Ter)SNV Pathogenic 522744 rs1554709677 8:86376331-86376331 8:85464102-85464102
10 CA2 NM_000067.3(CA2):c.681del (p.Lys227fs)deletion Likely pathogenic 632527 rs779869368 8:86392914-86392914 8:85480685-85480685
11 CA2 NM_000067.3(CA2):c.579C>G (p.Tyr193Ter)SNV Likely pathogenic 804410 8:86389420-86389420 8:85477191-85477191
12 CA2 NM_000067.3(CA2):c.648C>T (p.Ser216=)SNV Conflicting interpretations of pathogenicity 363836 rs376387073 8:86389489-86389489 8:85477260-85477260
13 CA2 NM_000067.3(CA2):c.*303C>TSNV Uncertain significance 363839 rs150089617 8:86393321-86393321 8:85481092-85481092
14 CA2 NM_000067.3(CA2):c.*562T>CSNV Uncertain significance 363842 rs886063153 8:86393580-86393580 8:85481351-85481351
15 CA2 NM_000067.3(CA2):c.139_142CTGT[1] (p.Ser48fs)short repeat Uncertain significance 632526 rs1564077060 8:86377605-86377608 8:85465376-85465379
16 CA2 NM_001293675.1(CA2):c.-314C>ASNV Uncertain significance 363830 rs570970117 8:86376181-86376181 8:85463952-85463952
17 CA2 NM_001293675.1(CA2):c.-268_-266dupduplication Uncertain significance 363831 rs886063147 8:86376226-86376227 8:85463997-85463998
18 CA2 NM_000067.3(CA2):c.508-7G>ASNV Uncertain significance 363834 rs886063149 8:86389342-86389342 8:85477113-85477113
19 CA2 NM_000067.3(CA2):c.*374A>GSNV Uncertain significance 363840 rs886063151 8:86393392-86393392 8:85481163-85481163
20 CA2 NM_000067.3(CA2):c.*465A>CSNV Uncertain significance 363841 rs886063152 8:86393483-86393483 8:85481254-85481254
21 CA2 NM_001293675.1(CA2):c.-360C>TSNV Uncertain significance 363828 rs886063146 8:86376135-86376135 8:85463906-85463906
22 CA2 NM_001293675.1(CA2):c.-322G>ASNV Uncertain significance 363829 rs557422827 8:86376173-86376173 8:85463944-85463944
23 CA2 NM_000067.3(CA2):c.*17G>ASNV Uncertain significance 363837 rs140653628 8:86393035-86393035 8:85480806-85480806
24 CA2 NM_000067.3(CA2):c.-53G>TSNV Uncertain significance 363832 rs886063148 8:86376258-86376258 8:85464029-85464029
25 CA2 NM_000067.3(CA2):c.539C>T (p.Pro180Leu)SNV Uncertain significance 363835 rs886063150 8:86389380-86389380 8:85477151-85477151
26 CA2 NM_000067.3(CA2):c.40G>A (p.Glu14Lys)SNV Uncertain significance 363833 rs758659684 8:86377506-86377506 8:85465277-85465277
27 CA2 NM_000067.3(CA2):c.*212A>GSNV Likely benign 363838 rs73263450 8:86393230-86393230 8:85481001-85481001
28 CA2 NM_000067.3(CA2):c.754A>G (p.Asn252Asp)SNV Benign/Likely benign 913 rs2228063 8:86392989-86392989 8:85480760-85480760
29 CA2 NM_000067.2(CA2):c.-181A>TSNV Benign 369615 rs11261477 8:86376130-86376130 8:85463901-85463901
30 CA2 NM_000067.3(CA2):c.562T>C (p.Leu188=)SNV Benign 254787 rs703 8:86389403-86389403 8:85477174-85477174

UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis, Autosomal Recessive 3:

73
# Symbol AA change Variation ID SNP ID
1 CA2 p.Gln92Pro VAR_001381 rs130416027
2 CA2 p.His107Tyr VAR_001382 rs118203933
3 CA2 p.His94Tyr VAR_021009
4 CA2 p.Gly144Arg VAR_021010

Expression for Osteopetrosis, Autosomal Recessive 3

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Recessive 3.

Pathways for Osteopetrosis, Autosomal Recessive 3

Pathways related to Osteopetrosis, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 TCIRG1 SLC4A1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
2
Show member pathways
12.63 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
3
Show member pathways
12.05 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
4 11.89 TCIRG1 ATP6V0A4 ATP6V0A2
5 11.85 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
6 11.7 TCIRG1 ATP6V0A4 ATP6V0A2
7
Show member pathways
11.67 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
8
Show member pathways
11.55 TCIRG1 SLC4A1 CA2 ATP6V1B1 ATP6V0A4 ATP6V0A2
9 11.23 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
10
Show member pathways
11.04 SLC4A1 CA2 CA1
11
Show member pathways
10.94 CA2 CA1

GO Terms for Osteopetrosis, Autosomal Recessive 3

Cellular components related to Osteopetrosis, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.85 TCIRG1 SLC4A1 CA2 ATP6V1B1 ATP6V0A4 ATP6V0A2
2 lysosomal membrane GO:0005765 9.71 TCIRG1 CLCN7 ATP6V0A4 ATP6V0A2
3 basolateral plasma membrane GO:0016323 9.61 SLC4A1 CA2 ATP6V1B1
4 endosome membrane GO:0010008 9.56 TCIRG1 SNX10 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 3 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 TCIRG1 SLC4A1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
2 ion transmembrane transport GO:0034220 9.72 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
3 proton transmembrane transport GO:1902600 9.71 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
4 ossification GO:0001503 9.69 TCIRG1 ATP6V1B1 ATP6V0A4
5 bicarbonate transport GO:0015701 9.63 SLC4A1 CA2 CA1
6 osteoclast differentiation GO:0030316 9.58 TCIRG1 SNX10
7 excretion GO:0007588 9.57 ATP6V1B1 ATP6V0A4
8 regulation of intracellular pH GO:0051453 9.56 SLC4A1 CA2
9 insulin receptor signaling pathway GO:0008286 9.56 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
10 calcium ion homeostasis GO:0055074 9.55 SNX10 ATP6V1B1
11 regulation of pH GO:0006885 9.54 ATP6V1B1 ATP6V0A4
12 bone resorption GO:0045453 9.54 TCIRG1 SNX10 LRRK1
13 response to pH GO:0009268 9.52 CLCN7 CA2
14 tooth eruption GO:0044691 9.49 TCIRG1 SNX10
15 pH reduction GO:0045851 9.48 TCIRG1 ATP6V1B1
16 vacuolar acidification GO:0007035 9.33 TCIRG1 ATP6V0A4 ATP6V0A2
17 transferrin transport GO:0033572 9.26 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
18 phagosome acidification GO:0090383 8.92 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2

Molecular functions related to Osteopetrosis, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride transmembrane transporter activity GO:0015108 9.37 SLC4A1 CLCN7
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.33 TCIRG1 ATP6V0A4 ATP6V0A2
3 carbonate dehydratase activity GO:0004089 9.32 CA2 CA1
4 arylesterase activity GO:0004064 9.26 CA2 CA1
5 ATPase binding GO:0051117 9.26 TCIRG1 SNX10 ATP6V0A4 ATP6V0A2
6 proton transmembrane transporter activity GO:0015078 8.92 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2

Sources for Osteopetrosis, Autosomal Recessive 3

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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