OPTB7
MCID: OST136
MIFTS: 49

Osteopetrosis, Autosomal Recessive 7 (OPTB7)

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 7

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 7:

Name: Osteopetrosis, Autosomal Recessive 7 56 73 13 71
Autosomal Recessive Osteopetrosis 7 12 29 6 15
Optb7 56 12 52 73
Autosomal Recessive Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia 12 52 58
Autosomal Recessive Osteopetrosis Type 7 12 52 58
Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia 12 73
Osteopetrosis-Hypogammaglobulinemia Syndrome 12 58
Osteopetrosis, Osteoclast-Poor, with Hypogammaglobulinemia 56
Osteopetrosis Osteoclast-Poor with Hypogammaglobulinemia 52
Osteopetrosis, Autosomal Recessive, Type 7 39
Osteopetrosis Autosomal Recessive 7 52

Characteristics:

Orphanet epidemiological data:

58
osteopetrosis-hypogammaglobulinemia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death in first years of life (in some patients)
hematopoietic stem cell transplantation can result in marked amelioration


HPO:

31
osteopetrosis, autosomal recessive 7:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110946
OMIM 56 612301
OMIM Phenotypic Series 56 PS259700
MeSH 43 D010022
ICD10 32 Q78.2
ICD10 via Orphanet 33 Q78.2
UMLS via Orphanet 72 C2676766
Orphanet 58 ORPHA178389
MedGen 41 C2676766
UMLS 71 C2676766

Summaries for Osteopetrosis, Autosomal Recessive 7

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 7, also known as autosomal recessive osteopetrosis 7, is related to osteopetrosis, autosomal recessive 2 and osteopetrosis. An important gene associated with Osteopetrosis, Autosomal Recessive 7 is TNFRSF11A (TNF Receptor Superfamily Member 11a), and among its related pathways/superpathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include bone and bone marrow, and related phenotypes are decreased circulating antibody level and global developmental delay

Disease Ontology : 12 An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.

UniProtKB/Swiss-Prot : 73 Osteopetrosis, autosomal recessive 7: 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. OPTB7 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. OPTB7 is associated with hypogammaglobulinemia.

More information from OMIM: 612301 PS259700

Related Diseases for Osteopetrosis, Autosomal Recessive 7

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 2 30.6 TNFSF11 TCIRG1 CLCN7
2 osteopetrosis 30.1 TNFSF11 TNFRSF11A TCIRG1 CLCN7 ATP6V0A2
3 medullary sponge kidney 10.5 ATP6V1B1 ATP6V0A4
4 dysosteosclerosis 10.4 TNFRSF11A TCIRG1
5 axial osteomalacia 10.4 TCIRG1 CLCN7
6 fibrogenesis imperfecta ossium 10.4 TCIRG1 CLCN7
7 osteopetrosis, autosomal recessive 8 10.4 TCIRG1 CLCN7
8 osteopetrosis, autosomal recessive 5 10.3 TCIRG1 CLCN7 ATP6V1B1
9 hereditary distal renal tubular acidosis 10.3 SLC4A1 ATP6V1B1 ATP6V0A4
10 distal renal tubular acidosis 10.3 SLC4A1 ATP6V1B1 ATP6V0A4
11 immune deficiency disease 10.3
12 bone disease 10.3
13 agammaglobulinemia 10.3
14 clcn7-related osteopetrosis 10.3
15 polyarticular onset juvenile idiopathic arthritis 10.3 TNFSF11 TNFRSF11A
16 renal tubular acidosis, distal, autosomal recessive 10.3 SLC4A1 ATP6V1B1 ATP6V0A4
17 craniodiaphyseal dysplasia 10.3 TCIRG1 CLCN7
18 hemophilic arthropathy 10.3 TNFSF11 TNFRSF11A
19 paget disease of bone 5, juvenile-onset 10.2 TNFSF11 TNFRSF11A
20 aneurysmal bone cysts 10.2 TNFSF11 TNFRSF11A
21 autosomal recessive malignant osteopetrosis 10.1 TNFSF11 TCIRG1 CLCN7
22 osteopetrosis, autosomal dominant 2 10.1 TNFSF11 TCIRG1 CLCN7
23 pycnodysostosis 10.1 TNFSF11 TCIRG1 CLCN7
24 craniometaphyseal dysplasia, autosomal dominant 10.1 TNFSF11 TCIRG1 CLCN7
25 renal tubular transport disease 10.1 SLC4A4 SLC4A1 ATP6V1B1 ATP6V0A4
26 giant cell reparative granuloma 10.0 TNFSF11 TNFRSF11A
27 metabolic acidosis 10.0 SLC4A4 SLC4A1 ATP6V1B1 ATP6V0A4
28 endosteal hyperostosis, autosomal dominant 10.0 TNFSF11 TCIRG1 CLCN7
29 nephrolithiasis 10.0 SLC4A1 CA8 ATP6V1B1 ATP6V0A4
30 bone remodeling disease 9.9 TNFSF11 TNFRSF11A TCIRG1 CLCN7
31 disseminated chorioretinitis 9.9 TNFSF11 TNFRSF11A GFER
32 hereditary elliptocytosis 9.9 SLC4A1 HBB ATP6V1B1 ATP6V0A4
33 retinitis pigmentosa 17 9.9 SLC4A4 IMPDH1
34 west nile fever 9.8 CD40LG ATP5F1A
35 auditory system disease 9.8 CD40LG ATP6V1B1 ATP6V0A4
36 osteopetrosis, autosomal recessive 1 9.8 TCIRG1 IMPDH1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
37 hydrops of gallbladder 9.7 CD40LG CA8
38 nephrocalcinosis 9.7 SLC4A1 HBB CLCN7 ATP6V1B1 ATP6V0A4
39 corneal degeneration 9.7 TGFBI SLC4A4
40 scarlet fever 9.7 CD40LG CA8
41 splenic infarction 9.6 HBB CD40LG
42 splenic sequestration 9.6 HBB CD40LG
43 interstitial keratitis 9.6 TGFBI CD40LG
44 sporotrichosis 9.6 CD40LG CBSL
45 osteopetrosis, autosomal recessive 3 9.5 TCIRG1 SLC4A4 SLC4A1 CLCN7 ATP6V1B1 ATP6V0A4
46 renal tubular acidosis 9.5 TCIRG1 SLC4A4 SLC4A1 CLCN7 ATP6V1B1 ATP6V0A4
47 plasmodium falciparum malaria 9.5 SLC4A1 HBB CD40LG
48 osteoporosis 9.1 TNFSF11 TNFRSF11A TCIRG1 CLCN7 CD40LG CA8
49 osteopetrosis, autosomal recessive 6 5.7 TNFSF11 TGFBI TCIRG1 STX8 SLC4A4 SLC4A1
50 osteopetrosis, autosomal recessive 4 5.7 TNFSF11 TGFBI TCIRG1 STX8 SLC4A4 SLC4A1

Graphical network of the top 20 diseases related to Osteopetrosis, Autosomal Recessive 7:



Diseases related to Osteopetrosis, Autosomal Recessive 7

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 7

Human phenotypes related to Osteopetrosis, Autosomal Recessive 7:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 decreased circulating antibody level 31 very rare (1%) HP:0004313
2 global developmental delay 31 HP:0001263
3 splenomegaly 31 HP:0001744
4 hepatomegaly 31 HP:0002240
5 hydrocephalus 31 HP:0000238
6 optic atrophy 31 HP:0000648
7 anemia 31 HP:0001903
8 progressive visual loss 31 HP:0000529
9 nystagmus 31 HP:0000639
10 growth delay 31 HP:0001510
11 thrombocytopenia 31 HP:0001873
12 motor delay 31 HP:0001270
13 proptosis 31 HP:0000520
14 recurrent pneumonia 31 HP:0006532
15 osteopetrosis 31 HP:0011002
16 multiple rib fractures 31 HP:0006640
17 generalized hypotonia 31 HP:0001290
18 optic nerve compression 31 HP:0007807
19 hypocalcemic seizures 31 HP:0002199
20 abnormal trabecular bone morphology 31 HP:0100671
21 psychomotor retardation 31 HP:0025356
22 dilation of lateral ventricles 31 HP:0006956
23 increased head circumference 31 HP:0040194
24 femur fracture 31 HP:0031846

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Neurologic Central Nervous System:
hydrocephalus
motor delay
psychomotor retardation
hypotonia
seizures due to hypocalcemia
more
Head And Neck Eyes:
nystagmus
vision loss
optic nerve atrophy
delayed visual evoked responses
exophthalmos (in 1 patient)

Respiratory Lung:
recurrent pneumonia

Head And Neck Head:
increased head circumference

Immunology:
hypogammaglobulinemia

Skeletal:
increased bone density
increase of bony and cartilaginous trabeculae
significant reduction of medullary space
lack of osteoclasts in bone marrow
lack of multinucleated cells in bone marrow
more
Respiratory Nasopharynx:
bone hypertrophy in nasal cavity, resulting in protracted suffocation (in 1 patient)

Skeletal Spine:
thickened bone of vertebrae

Skeletal Hands:
alternating bands of radiodensity and lucency at metaphyses
increased bone density of diaphyses

Abdomen Liver:
hepatomegaly

Hematology:
anemia
thrombocytopenia
reduced cellularity of bone marrow
reduced hematopoiesis in bone marrow

Laboratory Abnormalities:
hypocalcemia

Respiratory:
recurrent infections

Skeletal Skull:
increased head circumference
severe narrowing of optic foramina

Growth Other:
growth failure

Head And Neck Nose:
olfactory nerve atrophy

Chest Ribs Sternum Clavicles And Scapulae:
thickened bone of ribs
multiple rib fractures (in 1 patient)

Skeletal Limbs:
femur fracture (in 1 patient)

Neurologic Peripheral Nervous System:
olfactory nerve atrophy due to bone compression
slow stimuli transmission in bilateral peripheral auditory pathways
chronic denervation and reinnervation (bulbar and limb musculature)

Clinical features from OMIM:

612301

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 7:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 ABCB6 ATP6V0A4 ATP6V1B1 CBSL CD40LG CLCN7
2 hematopoietic system MP:0005397 10.25 ABCB6 ATP6V0A2 CBSL CD40LG CLCN7 IMPDH1
3 growth/size/body region MP:0005378 10.23 ATP5F1A ATP6V0A4 CBSL CLCN7 GFER PRKAG2
4 immune system MP:0005387 10.18 ATP6V0A2 CBSL CD40LG CLCN7 GFER IMPDH1
5 mortality/aging MP:0010768 10.07 ABCB6 ATP5F1A ATP6V0A4 CBSL CD40LG CLCN7
6 integument MP:0010771 9.97 ABCB6 ATP6V0A2 CBSL CD40LG CLCN7 SLC4A1
7 neoplasm MP:0002006 9.63 ATP5F1A ATP6V0A2 GFER TGFBI TNFRSF11A TNFSF11
8 renal/urinary system MP:0005367 9.5 ATP6V0A4 ATP6V1B1 CBSL CD40LG CLCN7 SLC4A1
9 skeleton MP:0005390 9.28 ATP6V0A4 ATP6V1B1 CD40LG CLCN7 SLC4A4 STX8

Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 7

Search Clinical Trials , NIH Clinical Center for Osteopetrosis, Autosomal Recessive 7

Genetic Tests for Osteopetrosis, Autosomal Recessive 7

Genetic tests related to Osteopetrosis, Autosomal Recessive 7:

# Genetic test Affiliating Genes
1 Autosomal Recessive Osteopetrosis 7 29 TNFRSF11A

Anatomical Context for Osteopetrosis, Autosomal Recessive 7

MalaCards organs/tissues related to Osteopetrosis, Autosomal Recessive 7:

40
Bone, Bone Marrow

Publications for Osteopetrosis, Autosomal Recessive 7

Articles related to Osteopetrosis, Autosomal Recessive 7:

# Title Authors PMID Year
1
Central control of fever and female body temperature by RANKL/RANK. 6 56
19940926 2009
2
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. 6 56
18606301 2008
3
In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects. 56 6
15231021 2004
4
TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum. 61
31163101 2019
5
Dysosteosclerosis is also caused by TNFRSF11A mutation. 61
29568001 2018

Variations for Osteopetrosis, Autosomal Recessive 7

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 7:

6 (show top 50) (show all 89) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNFRSF11A NM_003839.4(TNFRSF11A):c.730G>T (p.Ala244Ser)SNV Pathogenic 6304 rs121908658 18:60029026-60029026 18:62361793-62361793
2 TNFRSF11A NM_003839.4(TNFRSF11A):c.157G>C (p.Gly53Arg)SNV Pathogenic 6305 rs121908659 18:60015482-60015482 18:62348249-62348249
3 TNFRSF11A NM_003839.4(TNFRSF11A):c.508A>G (p.Arg170Gly)SNV Pathogenic 6301 rs121908655 18:60025561-60025561 18:62358328-62358328
4 TNFRSF11A NM_003839.4(TNFRSF11A):c.523T>C (p.Cys175Arg)SNV Pathogenic 6302 rs121908656 18:60027189-60027189 18:62359956-62359956
5 TNFRSF11A NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=)SNV Conflicting interpretations of pathogenicity 287597 rs34966542 18:60036404-60036404 18:62369171-62369171
6 TNFRSF11A NM_003839.4(TNFRSF11A):c.543A>T (p.Arg181Ser)SNV Conflicting interpretations of pathogenicity 327732 rs762733251 18:60027209-60027209 18:62359976-62359976
7 TNFRSF11A NM_003839.4(TNFRSF11A):c.402G>A (p.Ala134=)SNV Conflicting interpretations of pathogenicity 327728 rs145242277 18:60021742-60021742 18:62354509-62354509
8 TNFRSF11A NM_003839.4(TNFRSF11A):c.1279G>A (p.Asp427Asn)SNV Conflicting interpretations of pathogenicity 713429 18:60036429-60036429 18:62369196-62369196
9 TNFRSF11A NM_003839.4(TNFRSF11A):c.525T>C (p.Cys175=)SNV Conflicting interpretations of pathogenicity 724616 18:60027191-60027191 18:62359958-62359958
10 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1060C>TSNV Conflicting interpretations of pathogenicity 891349 18:60053327-60053327 18:62386094-62386094
11 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1178T>CSNV Uncertain significance 891350 18:60053445-60053445 18:62386212-62386212
12 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1185C>TSNV Uncertain significance 891351 18:60053452-60053452 18:62386219-62386219
13 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1211C>GSNV Uncertain significance 891352 18:60053478-60053478 18:62386245-62386245
14 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1301G>ASNV Uncertain significance 892547 18:60053568-60053568 18:62386335-62386335
15 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1368C>TSNV Uncertain significance 889184 18:60053635-60053635 18:62386402-62386402
16 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1416C>TSNV Uncertain significance 889185 18:60053683-60053683 18:62386450-62386450
17 TNFRSF11A NM_003839.4(TNFRSF11A):c.*759C>GSNV Uncertain significance 889112 18:60053026-60053026 18:62385793-62385793
18 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1908T>GSNV Uncertain significance 889867 18:60054175-60054175 18:62386942-62386942
19 TNFRSF11A NM_003839.4(TNFRSF11A):c.-22G>TSNV Uncertain significance 888782 18:59992564-59992564 18:62325331-62325331
20 TNFRSF11A NM_003839.4(TNFRSF11A):c.14C>T (p.Ala5Val)SNV Uncertain significance 888783 18:59992599-59992599 18:62325366-62325366
21 TNFRSF11A NM_003839.4(TNFRSF11A):c.33G>C (p.Leu11=)SNV Uncertain significance 890490 18:59992618-59992618 18:62325385-62325385
22 TNFRSF11A NM_003839.4(TNFRSF11A):c.133C>T (p.Arg45Trp)SNV Uncertain significance 891048 18:60015458-60015458 18:62348225-62348225
23 TNFRSF11A NM_003839.4(TNFRSF11A):c.447A>G (p.Thr149=)SNV Uncertain significance 888869 18:60025500-60025500 18:62358267-62358267
24 TNFRSF11A NM_003839.4(TNFRSF11A):c.793G>A (p.Gly265Ser)SNV Uncertain significance 888936 18:60035943-60035943 18:62368710-62368710
25 TNFRSF11A NM_003839.4(TNFRSF11A):c.1018T>A (p.Phe340Ile)SNV Uncertain significance 891182 18:60036168-60036168 18:62368935-62368935
26 TNFRSF11A NM_003839.4(TNFRSF11A):c.1542C>G (p.Ser514=)SNV Uncertain significance 888989 18:60036692-60036692 18:62369459-62369459
27 TNFRSF11A NM_003839.4(TNFRSF11A):c.1793T>C (p.Leu598Pro)SNV Uncertain significance 891238 18:60052209-60052209 18:62384976-62384976
28 TNFRSF11A NM_003839.4(TNFRSF11A):c.1847C>T (p.Ala616Val)SNV Uncertain significance 891239 18:60052263-60052263 18:62385030-62385030
29 TNFRSF11A NM_003839.4(TNFRSF11A):c.*93G>TSNV Uncertain significance 891240 18:60052360-60052360 18:62385127-62385127
30 TNFRSF11A NM_003839.4(TNFRSF11A):c.*126C>TSNV Uncertain significance 892431 18:60052393-60052393 18:62385160-62385160
31 TNFRSF11A NM_003839.4(TNFRSF11A):c.*320G>CSNV Uncertain significance 889053 18:60052587-60052587 18:62385354-62385354
32 TNFRSF11A NM_003839.4(TNFRSF11A):c.*322C>ASNV Uncertain significance 889054 18:60052589-60052589 18:62385356-62385356
33 TNFRSF11A NM_003839.4(TNFRSF11A):c.*420G>CSNV Uncertain significance 889055 18:60052687-60052687 18:62385454-62385454
34 TNFRSF11A NM_003839.4(TNFRSF11A):c.*423G>ASNV Uncertain significance 889056 18:60052690-60052690 18:62385457-62385457
35 TNFRSF11A NM_003839.4(TNFRSF11A):c.*440C>TSNV Uncertain significance 889057 18:60052707-60052707 18:62385474-62385474
36 TNFRSF11A NM_003839.4(TNFRSF11A):c.*447C>TSNV Uncertain significance 889744 18:60052714-60052714 18:62385481-62385481
37 TNFRSF11A NM_003839.4(TNFRSF11A):c.*464T>ASNV Uncertain significance 889745 18:60052731-60052731 18:62385498-62385498
38 TNFRSF11A NM_003839.4(TNFRSF11A):c.*502G>TSNV Uncertain significance 891289 18:60052769-60052769 18:62385536-62385536
39 TNFRSF11A NM_003839.4(TNFRSF11A):c.*625A>CSNV Uncertain significance 891290 18:60052892-60052892 18:62385659-62385659
40 TNFRSF11A NM_003839.4(TNFRSF11A):c.*633C>ASNV Uncertain significance 891291 18:60052900-60052900 18:62385667-62385667
41 TNFRSF11A NM_003839.4(TNFRSF11A):c.535G>A (p.Gly179Arg)SNV Uncertain significance 327731 rs886054084 18:60027201-60027201 18:62359968-62359968
42 TNFRSF11A NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu)SNV Uncertain significance 287370 rs148185533 18:60029014-60029014 18:62361781-62361781
43 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1231A>GSNV Uncertain significance 327759 rs562667048 18:60053498-60053498 18:62386265-62386265
44 TNFRSF11A NM_003839.4(TNFRSF11A):c.*811T>CSNV Uncertain significance 327756 rs886054098 18:60053078-60053078 18:62385845-62385845
45 TNFRSF11A NM_003839.4(TNFRSF11A):c.497C>T (p.Thr166Met)SNV Uncertain significance 327730 rs376096275 18:60025550-60025550 18:62358317-62358317
46 TNFRSF11A NM_003839.4(TNFRSF11A):c.555T>C (p.His185=)SNV Uncertain significance 327733 rs149842577 18:60027221-60027221 18:62359988-62359988
47 TNFRSF11A NM_003839.4(TNFRSF11A):c.954C>T (p.Tyr318=)SNV Uncertain significance 327734 rs200952751 18:60036104-60036104 18:62368871-62368871
48 TNFRSF11A NM_003839.4(TNFRSF11A):c.*214G>ASNV Uncertain significance 327740 rs886054085 18:60052481-60052481 18:62385248-62385248
49 TNFRSF11A NM_003839.4(TNFRSF11A):c.*501G>ASNV Uncertain significance 327747 rs886054091 18:60052768-60052768 18:62385535-62385535
50 TNFRSF11A NM_003839.4(TNFRSF11A):c.*556A>GSNV Uncertain significance 327748 rs886054092 18:60052823-60052823 18:62385590-62385590

UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis, Autosomal Recessive 7:

73
# Symbol AA change Variation ID SNP ID
1 TNFRSF11A p.Gly53Arg VAR_046788 rs121908659
2 TNFRSF11A p.Arg129Cys VAR_046789 rs121908657
3 TNFRSF11A p.Arg170Gly VAR_046791 rs121908655
4 TNFRSF11A p.Cys175Arg VAR_046792 rs121908656
5 TNFRSF11A p.Ala244Ser VAR_046793 rs121908658

Expression for Osteopetrosis, Autosomal Recessive 7

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Recessive 7.

Pathways for Osteopetrosis, Autosomal Recessive 7

Pathways related to Osteopetrosis, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 TCIRG1 SLC4A1 PRKAG2 IMPDH1 HBB CBSL
2
Show member pathways
13.05 TCIRG1 SLC4A4 SLC4A1 CLCN7 ATP6V1B1 ATP6V0A4
3
Show member pathways
12.15 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
4 11.85 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
5
Show member pathways
11.8 TCIRG1 SLC4A1 ATP6V1B1 ATP6V0A4 ATP6V0A2
6 11.78 TCIRG1 ATP6V0A4 ATP6V0A2
7 11.65 TNFSF11 TNFRSF11A CD40LG
8
Show member pathways
11.57 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
9
Show member pathways
11.52 TNFSF11 TNFRSF11A CD40LG
10
Show member pathways
11.44 TNFSF11 TNFRSF11A CD40LG
11 11.07 TNFSF11 TNFRSF11A TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
12 10.68 TNFSF11 TNFRSF11A

GO Terms for Osteopetrosis, Autosomal Recessive 7

Cellular components related to Osteopetrosis, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.03 TGFBI SLC4A4 SLC4A1 HBB ATP6V1B1 ATP6V0A4
2 cell GO:0005623 9.87 TCIRG1 SLC4A4 SLC4A1 ATP6V1B1 ATP6V0A4 ATP6V0A2
3 endosome membrane GO:0010008 9.71 TCIRG1 ATP6V0A4 ATP6V0A2 ABCB6
4 lysosomal membrane GO:0005765 9.65 TCIRG1 STX8 CLCN7 ATP6V0A4 ATP6V0A2
5 phagocytic vesicle membrane GO:0030670 9.54 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 7 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.89 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
2 ion transport GO:0006811 9.86 TCIRG1 SLC4A4 SLC4A1 CLCN7 ATP6V1B1 ATP6V0A4
3 tumor necrosis factor-mediated signaling pathway GO:0033209 9.77 TNFSF11 TNFRSF11A CD40LG
4 regulation of macroautophagy GO:0016241 9.74 PRKAG2 ATP6V1B1 ATP6V0A2
5 proton transmembrane transport GO:1902600 9.72 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2 ATP5F1A
6 bicarbonate transport GO:0015701 9.71 SLC4A4 SLC4A1 HBB
7 insulin receptor signaling pathway GO:0008286 9.71 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
8 osteoclast differentiation GO:0030316 9.65 TNFSF11 TNFRSF11A TCIRG1
9 positive regulation of bone resorption GO:0045780 9.59 TNFSF11 TNFRSF11A
10 regulation of pH GO:0006885 9.58 ATP6V1B1 ATP6V0A4
11 mammary gland alveolus development GO:0060749 9.58 TNFSF11 TNFRSF11A
12 tooth eruption GO:0044691 9.56 TNFSF11 TCIRG1
13 pH reduction GO:0045851 9.55 TCIRG1 ATP6V1B1
14 vacuolar acidification GO:0007035 9.54 TCIRG1 ATP6V0A4 ATP6V0A2
15 TNFSF11-mediated signaling pathway GO:0071847 9.52 TNFSF11 TNFRSF11A
16 osteoclast proliferation GO:0002158 9.51 TNFSF11 TCIRG1
17 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.46 TNFSF11 TNFRSF11A
18 transferrin transport GO:0033572 9.46 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
19 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.43 TNFSF11 TNFRSF11A
20 ossification GO:0001503 9.35 TNFSF11 TNFRSF11A TCIRG1 ATP6V1B1 ATP6V0A4
21 phagosome acidification GO:0090383 8.92 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2

Molecular functions related to Osteopetrosis, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 9.5 TCIRG1 ATP6V0A4 ATP6V0A2
2 chloride transmembrane transporter activity GO:0015108 9.43 SLC4A1 CLCN7
3 anion transmembrane transporter activity GO:0008509 9.4 SLC4A4 SLC4A1
4 inorganic anion exchanger activity GO:0005452 9.37 SLC4A4 SLC4A1
5 hemoglobin binding GO:0030492 9.26 SLC4A1 HBB
6 adenyl ribonucleotide binding GO:0032559 9.16 PRKAG2 ATP5F1A
7 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.13 TCIRG1 ATP6V0A4 ATP6V0A2
8 proton transmembrane transporter activity GO:0015078 8.92 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2

Sources for Osteopetrosis, Autosomal Recessive 7

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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