OPTB3
MCID: OST163
MIFTS: 53

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 57 74 72
Osteopetrosis with Renal Tubular Acidosis 57 12 53 59 74 29 6
Marble Brain Disease 57 12 53 59 74
Guibaud-Vainsel Syndrome 57 12 59 74
Optb3 57 12 53 74
Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 57 29 13
Autosomal Recessive Osteopetrosis 3 12 15
Carbonic Anhydrase Ii Deficiency 57 12
Carbonic Anhydrase 2 Deficiency 53 59
Autosomal Recessive Osteopetrosis 3 with Renal Tubular Acidosis 12
Osteopetrosis, Autosomal Recessive, Type 3 40
Carbonic Anhydrase Ii Deficiency Syndrome 74
Autosomal Recessive Osteopetrosis Type 3 53
Osteopetrosis Autosomal Recessive 3 53
Renal Tubular Acidosis Type 3 59
Carbonic Anhydrase Ii Variant 6
Mixed Renal Tubular Acidosis 59
Guibaud Vainsel Syndrome 53
Mixed Rta 59

Characteristics:

Orphanet epidemiological data:

59
osteopetrosis with renal tubular acidosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
osteopetrosis, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110941
MESH via Orphanet 45 C536058
ICD10 via Orphanet 34 Q78.2
UMLS via Orphanet 73 C1849435
Orphanet 59 ORPHA2785
MedGen 42 C0345407
UMLS 72 C0345407

Summaries for Osteopetrosis, Autosomal Recessive 3

NIH Rare Diseases : 53 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 renal tubular acidosis and metabolic 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 Insulin receptor recycling. 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 : 74 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 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 95)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis 31.3 TCIRG1 CA2 ATP6V1B1
2 metabolic acidosis 30.6 CA2 ATP6V1B1 AQP2
3 nephrocalcinosis 30.4 SLC12A3 CA2 ATP6V1B1
4 osteopetrosis 30.1 TCIRG1 CSF1 CLCN7 CA2
5 endosteal hyperostosis, autosomal dominant 29.9 TCIRG1 CSF1 CLCN7
6 renal tubular acidosis, distal, autosomal dominant 10.6 CA2 ATP6V1B1
7 autosomal recessive malignant osteopetrosis 10.6 TCIRG1 CLCN7
8 osteopetrosis, autosomal recessive 6 10.5 TCIRG1 CLCN7
9 occlusion precerebral artery 10.4 CA4 CA1
10 carotid artery occlusion 10.3 CA4 CA1
11 hypokalemia 10.3
12 visual epilepsy 10.2
13 distal renal tubular acidosis 10.2
14 seizure disorder 10.2
15 autosomal recessive disease 10.1
16 bone resorption disease 10.1
17 lung disease 10.1
18 encephalopathy 10.1
19 fungal esophagitis 10.1 ATP4A ATP12A
20 gastroduodenal crohn's disease 10.1 ATP4A ATP12A
21 diclofenac allergy 10.1 ATP4A ATP12A
22 osteopetrosis, autosomal dominant 2 10.1 TCIRG1 CLCN7
23 neonatal candidiasis 10.1 ATP4A ATP12A
24 squamous papillomatosis 10.1 ATP4A ATP12A
25 photoallergic dermatitis 10.1 ATP4A ATP12A
26 gastrointestinal neuroendocrine benign tumor 10.1 ATP4A ATP12A
27 aspiration pneumonitis 10.1 ATP4A ATP12A
28 toxic megacolon 10.1 ATP4A ATP12A
29 granulomatous gastritis 10.1 ATP4A ATP12A
30 gastric antral vascular ectasia 10.1 ATP4A ATP12A
31 acute laryngitis 10.1 ATP4A ATP12A
32 laryngitis 10.1 ATP4A ATP12A
33 gastric neuroendocrine neoplasm 10.1 ATP4A ATP12A
34 esophageal candidiasis 10.1 ATP4A ATP12A
35 duodenitis 10.1 ATP4A ATP12A
36 active peptic ulcer disease 10.1 ATP4A ATP12A
37 rumination disorder 10.1 ATP4A ATP12A
38 dyskinesia of esophagus 10.1 ATP4A ATP12A
39 peptic esophagitis 10.1 ATP4A ATP12A
40 capillary disease 10.1 ATP4A ATP12A
41 bile reflux 10.1 ATP4A ATP12A
42 ischemic neuropathy 10.1 ATP4A ATP12A
43 bladder calculus 10.1 ATP4A ATP12A
44 congenital disorder of deglycosylation 10.1 ATP4A ATP12A
45 anismus 10.1 ATP4A ATP12A
46 hernia, hiatus 10.0 ATP4A ATP12A
47 postsurgical hypothyroidism 10.0 ATP4A ATP12A
48 esophageal atresia/tracheoesophageal fistula 10.0 ATP4A ATP12A
49 lymphocytic colitis 10.0 ATP4A ATP12A
50 clostridium difficile colitis 10.0 ATP4A ATP12A

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:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
2 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
6 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
7 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
8 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
9 reduced bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004349
10 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
11 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
12 osteopetrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011002
13 avascular necrosis 32 hallmark (90%) HP:0010885
14 abnormal renal tubule morphology 32 hallmark (90%) HP:0000091
15 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
16 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
17 dental malocclusion 59 32 frequent (33%) Frequent (79-30%) HP:0000689
18 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
19 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
20 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
21 abnormality of dental morphology 59 32 frequent (33%) Frequent (79-30%) HP:0006482
22 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
23 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
24 aseptic necrosis 59 Very frequent (99-80%)
25 short stature 32 HP:0004322
26 abnormality of the renal tubule 59 Very frequent (99-80%)
27 periodic hypokalemic paresis 32 HP:0008153
28 visual loss 32 HP:0000572
29 hepatosplenomegaly 32 HP:0001433
30 cranial hyperostosis 32 HP:0004437
31 optic nerve compression 32 HP:0007807
32 extramedullary hematopoiesis 32 HP:0001978
33 distal renal tubular acidosis 32 HP:0008341
34 basal ganglia calcification 32 HP:0002135
35 diaphyseal sclerosis 32 HP:0003034
36 elevated serum acid phosphatase 32 HP:0003148

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 AQP2 ATP12A ATP4A ATP6V1B1 CA2 CA4
2 renal/urinary system MP:0005367 9.5 AQP2 ATP12A ATP6V1B1 CA2 CLCN7 SLC12A3
3 skeleton MP:0005390 9.1 ATP6V1B1 CA2 CLCN7 CSF1 TCIRG1 TYR

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:

41
Bone, Brain, Bone Marrow

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. 8 71
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. 8 71
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). 8 71
7627193 1995
4
Carbonic anhydrase II deficiency in three unrelated Japanese patients. 8 71
8127074 1993
5
Molecular basis of human carbonic anhydrase II deficiency. 8 71
1542674 1992
6
A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. 8 71
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. 8 71
1928091 1991
8
Osteopetrosis associated with proximal and distal tubular acidosis. 8 71
5041390 1972
9
Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. 38 8
3081869 1986
10
Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation. 38 8
3080873 1986
11
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. 38 8
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. 38 8
6405388 1983
13
Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. 8
9150731 1997
14
Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis. 8
9143915 1997
15
Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity? 8
2107079 1990
16
The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters. 8
3221988 1988
17
[Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases]. 8
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). 71
6407977 1983
19
Chemical and enzymological characterization of an Indonesian variant of human erythrocyte carbonic anhydrase II, CAII Jogjakarta (17 Lys leads to Glu). 71
6817747 1982
20
Renal tubular acidosis and osteopetrosis in siblings. 8
7312081 1981
21
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. 8
7386510 1980
22
Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families. 8
7358236 1980
23
Human carbonic anhydrases. 8. Isolation and characterization of polymorphic form of a C type isozyme. 71
4624444 1972
24
[Osteopetrosis and renal tubular acidosis. 2 cases of this association in a sibship]. 8
4661410 1972
25
Osteopetrosis with renal tubular acidosis and cerebral calcification. 38
29571443 2018
26
Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families. 38
25720518 2015
27
Carbonic anhydrase II in the developing and adult human brain. 38
16825953 2006
28
Identification and proteomic profiling of exosomes in human urine. 38
15326289 2004
29
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. 38
15300855 2004
30
Recent developments in the understanding of the pathophysiology of osteopetrosis. 38
8630510 1996
31
Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients. 38
8128957 1994
32
Carbonic anhydrase II deficiency. 38
8358947 1993
33
Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients. 38
2117271 1990
34
Positive renal response to intravenous acetazolamide in patients with carbonic anhydrase II deficiency. 38
3932950 1985
35
Failure of acetazolamide to decrease intraocular pressure in patients with carbonic anhydrase II deficiency. 38
3920916 1985
36
Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8. 38
6410391 1983

Variations for Osteopetrosis, Autosomal Recessive 3

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 3:

6 (show all 29)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CA2 NM_000067.3(CA2): c.52A> G (p.Lys18Glu) single nucleotide variant Pathogenic rs118203931 8:86377518-86377518 8:85465289-85465289
2 CA2 NM_000067.3(CA2): c.707C> A (p.Pro236His) single nucleotide variant Pathogenic rs118203932 8:86392942-86392942 8:85480713-85480713
3 CA2 NM_000067.3(CA2): c.319C> T (p.His107Tyr) single nucleotide variant Pathogenic rs118203933 8:86386008-86386008 8:85473779-85473779
4 CA2 CA2, IVS5AS, G-C, -1 single nucleotide variant Pathogenic
5 CA2 CA2, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
6 CA2 NM_000067.3(CA2): c.120T> G (p.Tyr40Ter) single nucleotide variant Pathogenic rs118203934 8:86377586-86377586 8:85465357-85465357
7 CA2 CA2, 1-BP DEL, 207C deletion Pathogenic
8 CA2 NM_000067.3(CA2): c.232+1G> A single nucleotide variant Pathogenic rs573750741 8:86377699-86377699 8:85465470-85465470
9 CA2 NM_000067.3(CA2): c.21C> A (p.Tyr7Ter) single nucleotide variant Pathogenic rs1554709677 8:86376331-86376331 8:85464102-85464102
10 CA2 NM_000067.3(CA2): c.681del (p.Lys227fs) deletion Likely pathogenic 8:86392913-86392914 8:85480687-85480687
11 CA2 NM_000067.3(CA2): c.*303C> T single nucleotide variant Uncertain significance rs150089617 8:86393321-86393321 8:85481092-85481092
12 CA2 NM_000067.3(CA2): c.*562T> C single nucleotide variant Uncertain significance rs886063153 8:86393580-86393580 8:85481351-85481351
13 CA2 NM_000067.3(CA2): c.139_142CTGT[1] (p.Ser48fs) short repeat Uncertain significance 8:86377604-86377608 8:85465376-85465379
14 CA2 NM_001293675.1(CA2): c.-314C> A single nucleotide variant Uncertain significance rs570970117 8:86376181-86376181 8:85463952-85463952
15 CA2 NM_001293675.1(CA2): c.-268_-266dup duplication Uncertain significance rs886063147 8:86376227-86376229 8:85463998-85464000
16 CA2 NM_000067.3(CA2): c.508-7G> A single nucleotide variant Uncertain significance rs886063149 8:86389342-86389342 8:85477113-85477113
17 CA2 NM_000067.3(CA2): c.*374A> G single nucleotide variant Uncertain significance rs886063151 8:86393392-86393392 8:85481163-85481163
18 CA2 NM_000067.3(CA2): c.*465A> C single nucleotide variant Uncertain significance rs886063152 8:86393483-86393483 8:85481254-85481254
19 CA2 NM_001293675.1(CA2): c.-360C> T single nucleotide variant Uncertain significance rs886063146 8:86376135-86376135 8:85463906-85463906
20 CA2 NM_001293675.1(CA2): c.-322G> A single nucleotide variant Uncertain significance rs557422827 8:86376173-86376173 8:85463944-85463944
21 CA2 NM_000067.3(CA2): c.*17G> A single nucleotide variant Uncertain significance rs140653628 8:86393035-86393035 8:85480806-85480806
22 CA2 NM_000067.3(CA2): c.-53G> T single nucleotide variant Uncertain significance rs886063148 8:86376258-86376258 8:85464029-85464029
23 CA2 NM_000067.3(CA2): c.539C> T (p.Pro180Leu) single nucleotide variant Uncertain significance rs886063150 8:86389380-86389380 8:85477151-85477151
24 CA2 NM_000067.3(CA2): c.40G> A (p.Glu14Lys) single nucleotide variant Uncertain significance rs758659684 8:86377506-86377506 8:85465277-85465277
25 CA2 NM_000067.3(CA2): c.648C> T (p.Ser216=) single nucleotide variant Uncertain significance rs376387073 8:86389489-86389489 8:85477260-85477260
26 CA2 NM_000067.3(CA2): c.*212A> G single nucleotide variant Likely benign rs73263450 8:86393230-86393230 8:85481001-85481001
27 CA2 NM_000067.3(CA2): c.754A> G (p.Asn252Asp) single nucleotide variant Likely benign rs2228063 8:86392989-86392989 8:85480760-85480760
28 CA2 NM_000067.2(CA2): c.-181A> T single nucleotide variant Benign rs11261477 8:86376130-86376130 8:85463901-85463901
29 CA2 NM_000067.3(CA2): c.562T> C (p.Leu188=) single nucleotide variant Benign rs703 8:86389403-86389403 8:85477174-85477174

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

74
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 TCIRG1 SLC12A3 CLCN7 ATP6V1B1 ATP4A ATP12A
2
Show member pathways
12.07 TCIRG1 CA2 ATP6V1B1 ATP4A
3
Show member pathways
11.85 TCIRG1 CLCN7 ATP6V1B1 ATP4A ATP12A
4 11.51 TCIRG1 CSF1 ATP6V1B1
5
Show member pathways
10.88 CA4 CA2 CA1
6 10.77 CA4 CA2
7
Show member pathways
10.39 CA4 CA3 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 apical plasma membrane GO:0016324 9.35 TCIRG1 SLC12A3 CA4 ATP6V1B1 AQP2
2 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.16 TCIRG1 ATP6V1B1
3 basolateral plasma membrane GO:0016323 9.02 CA4 CA2 ATP6V1B1 ATP12A AQP2
4 membrane GO:0016020 10 TYR TCIRG1 SLC12A3 CSF1 CLCN7 CA4

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.63 TCIRG1 SLC12A3 CLCN7 ATP6V1B1 ATP4A ATP12A
2 transferrin transport GO:0033572 9.54 TCIRG1 ATP6V1B1
3 positive regulation of osteoclast differentiation GO:0045672 9.52 CSF1 CA2
4 regulation of pH GO:0006885 9.51 ATP6V1B1 ATP12A
5 cellular sodium ion homeostasis GO:0006883 9.48 ATP4A ATP12A
6 potassium ion homeostasis GO:0055075 9.46 SLC12A3 ATP12A
7 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.43 ATP4A ATP12A
8 potassium ion import across plasma membrane GO:1990573 9.43 SLC12A3 ATP4A ATP12A
9 sodium ion export across plasma membrane GO:0036376 9.4 ATP4A ATP12A
10 cellular potassium ion homeostasis GO:0030007 9.37 ATP4A ATP12A
11 response to pH GO:0009268 9.32 CLCN7 CA2
12 bicarbonate transport GO:0015701 9.26 CA4 CA3 CA2 CA1
13 excretion GO:0007588 9.25 ATP6V1B1
14 sodium ion transport GO:0006814 9.19 SLC12A3
15 ATP hydrolysis coupled proton transport GO:0015991 8.92 TCIRG1 ATP6V1B1 ATP4A ATP12A

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

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 9.37 TCIRG1 ATP6V1B1
2 sodium:potassium-exchanging ATPase activity GO:0005391 9.32 ATP4A ATP12A
3 arylesterase activity GO:0004064 9.26 CA2 CA1
4 lyase activity GO:0016829 9.26 CA4 CA3 CA2 CA1
5 potassium:proton exchanging ATPase activity GO:0008900 9.16 ATP4A ATP12A
6 carbonate dehydratase activity GO:0004089 8.92 CA4 CA3 CA2 CA1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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