OPTB7
MCID: OST136
MIFTS: 49

Osteopetrosis, Autosomal Recessive 7 (OPTB7)

Categories: Blood diseases, Bone diseases, Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Osteopetrosis, Autosomal Recessive 7

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 7:

Name: Osteopetrosis, Autosomal Recessive 7 57 72 13 70
Autosomal Recessive Osteopetrosis 7 12 29 6 15
Optb7 57 12 20 72
Autosomal Recessive Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia 12 20 58
Autosomal Recessive Osteopetrosis Type 7 12 20 58
Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia 12 72
Osteopetrosis-Hypogammaglobulinemia Syndrome 12 58
Osteopetrosis, Osteoclast-Poor, with Hypogammaglobulinemia 57
Osteopetrosis Osteoclast-Poor with Hypogammaglobulinemia 20
Osteopetrosis, Autosomal Recessive, Type 7 39
Osteopetrosis Autosomal Recessive 7 20

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 612301
OMIM Phenotypic Series 57 PS259700
MeSH 44 D010022
ICD10 32 Q78.2
ICD10 via Orphanet 33 Q78.2
UMLS via Orphanet 71 C2676766
Orphanet 58 ORPHA178389
MedGen 41 C2676766
UMLS 70 C2676766

Summaries for Osteopetrosis, Autosomal Recessive 7

GARD : 20 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 bone disease 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 Innate Immune System 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 nystagmus

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 : 72 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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 bone disease 29.9 TNFSF11 TNFRSF11A CSF1 CLCN7
2 osteopetrosis 29.4 TNFSF11 TNFRSF11A TCIRG1 CSF1 CLCN7 ATP6V1B1
3 medullary sponge kidney 10.3 ATP6V1B1 ATP6V0A4
4 dysosteosclerosis 10.3 TNFRSF11A TCIRG1
5 immune deficiency disease 10.2
6 agammaglobulinemia 10.2
7 clcn7-related osteopetrosis 10.2
8 axial osteomalacia 10.2 TCIRG1 CLCN7
9 fibrogenesis imperfecta ossium 10.2 TCIRG1 CLCN7
10 polyarticular onset juvenile idiopathic arthritis 10.2 TNFSF11 TNFRSF11A
11 hemophilic arthropathy 10.2 TNFSF11 TNFRSF11A
12 disseminated chorioretinitis 10.2 TNFSF11 TNFRSF11A
13 paget disease of bone 5, juvenile-onset 10.2 TNFSF11 TNFRSF11A
14 craniodiaphyseal dysplasia 10.1 TCIRG1 CLCN7
15 hereditary distal renal tubular acidosis 10.1 SLC4A1 ATP6V1B1 ATP6V0A4
16 distal renal tubular acidosis 10.1 SLC4A1 ATP6V1B1 ATP6V0A4
17 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 10.1 SLC4A1 ATP6V1B1 ATP6V0A4
18 autosomal recessive distal renal tubular acidosis 10.1 SLC4A1 ATP6V1B1 ATP6V0A4
19 aneurysmal bone cysts 10.1 TNFSF11 TNFRSF11A
20 giant cell reparative granuloma 10.1 TNFSF11 TNFRSF11A
21 tooth resorption 10.0 TNFSF11 TNFRSF11A
22 nephrocalcinosis 10.0 SLC4A1 ATP6V1B1 ATP6V0A4
23 bone giant cell sarcoma 10.0 TNFSF11 CSF1
24 osteopetrosis, autosomal recessive 2 10.0 TNFSF11 TCIRG1 CLCN7
25 osteopetrosis, autosomal dominant 2 10.0 TNFSF11 TCIRG1 CLCN7
26 autosomal recessive malignant osteopetrosis 10.0 TNFSF11 TCIRG1 CLCN7
27 osteopetrosis, autosomal recessive 8 10.0 TNFSF11 TCIRG1 CLCN7
28 pycnodysostosis 10.0 TNFSF11 TCIRG1 CLCN7
29 multicentric reticulohistiocytosis 10.0 TNFSF11 CSF1
30 renal tubular transport disease 9.9 SLC4A4 SLC4A1 ATP6V1B1 ATP6V0A4
31 mandibular cancer 9.9 TNFSF11 CSF1
32 multicentric carpotarsal osteolysis syndrome 9.9 TNFSF11 TNFRSF11A CSF1
33 bone giant cell tumor 9.9 TNFSF11 TNFRSF11A CSF1
34 benign giant cell tumor 9.9 TNFSF11 TNFRSF11A CSF1
35 metabolic acidosis 9.9 SLC4A4 SLC4A1 ATP6V1B1 ATP6V0A4
36 osteopetrosis, autosomal recessive 1 9.9 TCIRG1 IMPDH1 CLCN7 ATP6V1B1 ATP6V0A4
37 nephrolithiasis 9.9 SLC4A1 ATP6V1B1 ATP6V0A4
38 craniometaphyseal dysplasia, autosomal dominant 9.9 TNFSF11 TNFRSF11A TCIRG1 CLCN7
39 paget's disease of bone 9.9 TNFSF11 TNFRSF11A CSF1
40 corneal dystrophy and perceptive deafness 9.9 SLC4A4 SLC4A1
41 corneal degeneration 9.9 TGFBI SLC4A4
42 bone resorption disease 9.9 TNFSF11 TNFRSF11A CSF1
43 endosteal hyperostosis, autosomal dominant 9.7 TNFSF11 TCIRG1 CSF1 CLCN7
44 hereditary elliptocytosis 9.7 SLC4A1 HBB ATP6V1B1 ATP6V0A4
45 bone benign neoplasm 9.7 TNFSF11 CSF1
46 bone remodeling disease 9.6 TNFSF11 TNFRSF11A TCIRG1 CSF1 CLCN7
47 osteopetrosis, autosomal recessive 3 9.6 TCIRG1 SLC4A4 SLC4A1 CLCN7 ATP6V1B1 ATP6V0A4
48 renal tubular acidosis 9.5 TCIRG1 SLC4A4 SLC4A1 CLCN7 ATP6V1B1 ATP6V0A4
49 osteoporosis 9.2 TNFSF11 TNFRSF11A TCIRG1 CSF1 CLCN7 CD40LG
50 osteopetrosis, autosomal recessive 6 7.4 TNFSF11 TGFBI TCIRG1 SLC4A4 SLC4A1 PRKAG2

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 nystagmus 31 HP:0000639
3 hydrocephalus 31 HP:0000238
4 global developmental delay 31 HP:0001263
5 splenomegaly 31 HP:0001744
6 hepatomegaly 31 HP:0002240
7 optic atrophy 31 HP:0000648
8 anemia 31 HP:0001903
9 progressive visual loss 31 HP:0000529
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 psychomotor retardation 31 HP:0025356
16 osteopetrosis 31 HP:0011002
17 multiple rib fractures 31 HP:0006640
18 generalized hypotonia 31 HP:0001290
19 optic nerve compression 31 HP:0007807
20 hypocalcemic seizures 31 HP:0002199
21 abnormal trabecular bone morphology 31 HP:0100671
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®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
vision loss
optic nerve atrophy
delayed visual evoked responses
exophthalmos (in 1 patient)

Abdomen Spleen:
splenomegaly

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

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

Neurologic Central Nervous System:
hydrocephalus
motor delay
psychomotor retardation
hypotonia
seizures due to hypocalcemia
more
Abdomen Liver:
hepatomegaly

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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 ATP5F1A ATP6V0A4 ATP6V1B1 CLCN7 CSF1 PRKAG2
2 hematopoietic system MP:0005397 10.15 ABCB6 ATP6V0A2 CD40LG CLCN7 CSF1 IMPDH1
3 homeostasis/metabolism MP:0005376 10.13 ABCB6 ATP6V0A4 ATP6V1B1 CD40LG CLCN7 CSF1
4 immune system MP:0005387 10.03 ATP6V0A2 CD40LG CLCN7 CSF1 IMPDH1 PRKAG2
5 integument MP:0010771 9.81 ABCB6 ATP6V0A2 CD40LG CLCN7 CSF1 SLC4A1
6 mortality/aging MP:0010768 9.73 ABCB6 ATP5F1A ATP6V0A4 CD40LG CLCN7 CSF1
7 skeleton MP:0005390 9.28 ATP6V0A4 ATP6V1B1 CD40LG CLCN7 CSF1 SLC4A4

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 57
19940926 2009
2
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. 6 57
18606301 2008
3
In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects. 57 6
15231021 2004
4
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins. 61
33037392 2021
5
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis. 61
33402699 2021
6
TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum. 61
31163101 2019
7
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 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNFRSF11A NM_003839.4(TNFRSF11A):c.508A>G (p.Arg170Gly) SNV Pathogenic 6301 rs121908655 GRCh37: 18:60025561-60025561
GRCh38: 18:62358328-62358328
2 TNFRSF11A NM_003839.4(TNFRSF11A):c.523T>C (p.Cys175Arg) SNV Pathogenic 6302 rs121908656 GRCh37: 18:60027189-60027189
GRCh38: 18:62359956-62359956
3 TNFRSF11A NM_003839.4(TNFRSF11A):c.385C>T (p.Arg129Cys) SNV Pathogenic 6303 rs121908657 GRCh37: 18:60021725-60021725
GRCh38: 18:62354492-62354492
4 TNFRSF11A NM_003839.4(TNFRSF11A):c.730G>T (p.Ala244Ser) SNV Pathogenic 6304 rs121908658 GRCh37: 18:60029026-60029026
GRCh38: 18:62361793-62361793
5 TNFRSF11A NM_003839.4(TNFRSF11A):c.157G>C (p.Gly53Arg) SNV Pathogenic 6305 rs121908659 GRCh37: 18:60015482-60015482
GRCh38: 18:62348249-62348249
6 TNFRSF11A NM_003839.4(TNFRSF11A):c.543A>T (p.Arg181Ser) SNV Uncertain significance 327732 rs762733251 GRCh37: 18:60027209-60027209
GRCh38: 18:62359976-62359976
7 TNFRSF11A NM_003839.4(TNFRSF11A):c.*214G>A SNV Uncertain significance 327740 rs886054085 GRCh37: 18:60052481-60052481
GRCh38: 18:62385248-62385248
8 TNFRSF11A NM_003839.4(TNFRSF11A):c.954C>T (p.Tyr318=) SNV Uncertain significance 327734 rs200952751 GRCh37: 18:60036104-60036104
GRCh38: 18:62368871-62368871
9 TNFRSF11A NM_003839.4(TNFRSF11A):c.497C>T (p.Thr166Met) SNV Uncertain significance 327730 rs376096275 GRCh37: 18:60025550-60025550
GRCh38: 18:62358317-62358317
10 TNFRSF11A NM_003839.4(TNFRSF11A):c.394G>A (p.Glu132Lys) SNV Uncertain significance 327727 rs867372893 GRCh37: 18:60021734-60021734
GRCh38: 18:62354501-62354501
11 TNFRSF11A NM_003839.4(TNFRSF11A):c.402G>A (p.Ala134=) SNV Uncertain significance 327728 rs145242277 GRCh37: 18:60021742-60021742
GRCh38: 18:62354509-62354509
12 TNFRSF11A NM_003839.4(TNFRSF11A):c.555T>C (p.His185=) SNV Uncertain significance 327733 rs149842577 GRCh37: 18:60027221-60027221
GRCh38: 18:62359988-62359988
13 TNFRSF11A NM_003839.4(TNFRSF11A):c.535G>A (p.Gly179Arg) SNV Uncertain significance 327731 rs886054084 GRCh37: 18:60027201-60027201
GRCh38: 18:62359968-62359968
14 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1231A>G SNV Uncertain significance 327759 rs562667048 GRCh37: 18:60053498-60053498
GRCh38: 18:62386265-62386265
15 TNFRSF11A NM_003839.4(TNFRSF11A):c.29C>T (p.Pro10Leu) SNV Uncertain significance 327724 rs886054082 GRCh37: 18:59992614-59992614
GRCh38: 18:62325381-62325381
16 TNFRSF11A NM_003839.4(TNFRSF11A):c.*501G>A SNV Uncertain significance 327747 rs886054091 GRCh37: 18:60052768-60052768
GRCh38: 18:62385535-62385535
17 TNFRSF11A NM_003839.4(TNFRSF11A):c.*223G>A SNV Uncertain significance 327741 rs886054086 GRCh37: 18:60052490-60052490
GRCh38: 18:62385257-62385257
18 TNFRSF11A NM_003839.4(TNFRSF11A):c.*125T>C SNV Uncertain significance 327739 rs528975442 GRCh37: 18:60052392-60052392
GRCh38: 18:62385159-62385159
19 TNFRSF11A NM_003839.4(TNFRSF11A):c.*751C>T SNV Uncertain significance 327755 rs886054097 GRCh37: 18:60053018-60053018
GRCh38: 18:62385785-62385785
20 TNFRSF11A NM_003839.4(TNFRSF11A):c.*705G>A SNV Uncertain significance 327754 rs886054096 GRCh37: 18:60052972-60052972
GRCh38: 18:62385739-62385739
21 TNFRSF11A NM_003839.4(TNFRSF11A):c.999C>T (p.Thr333=) SNV Uncertain significance 327735 rs138204772 GRCh37: 18:60036149-60036149
GRCh38: 18:62368916-62368916
22 TNFRSF11A NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) SNV Uncertain significance 287370 rs148185533 GRCh37: 18:60029014-60029014
GRCh38: 18:62361781-62361781
23 TNFRSF11A NM_003839.4(TNFRSF11A):c.-22G>T SNV Uncertain significance 888782 GRCh37: 18:59992564-59992564
GRCh38: 18:62325331-62325331
24 TNFRSF11A NM_003839.4(TNFRSF11A):c.14C>T (p.Ala5Val) SNV Uncertain significance 888783 GRCh37: 18:59992599-59992599
GRCh38: 18:62325366-62325366
25 TNFRSF11A NM_003839.4(TNFRSF11A):c.447A>G (p.Thr149=) SNV Uncertain significance 888869 GRCh37: 18:60025500-60025500
GRCh38: 18:62358267-62358267
26 TNFRSF11A NM_003839.4(TNFRSF11A):c.730+6G>C SNV Uncertain significance 888933 GRCh37: 18:60029032-60029032
GRCh38: 18:62361799-62361799
27 TNFRSF11A NM_003839.4(TNFRSF11A):c.731-11G>A SNV Uncertain significance 888934 GRCh37: 18:60033930-60033930
GRCh38: 18:62366697-62366697
28 TNFRSF11A NM_003839.4(TNFRSF11A):c.784-5G>A SNV Uncertain significance 888935 GRCh37: 18:60035929-60035929
GRCh38: 18:62368696-62368696
29 TNFRSF11A NM_003839.4(TNFRSF11A):c.793G>A (p.Gly265Ser) SNV Uncertain significance 888936 GRCh37: 18:60035943-60035943
GRCh38: 18:62368710-62368710
30 TNFRSF11A NM_003839.4(TNFRSF11A):c.1542C>G (p.Ser514=) SNV Uncertain significance 888989 GRCh37: 18:60036692-60036692
GRCh38: 18:62369459-62369459
31 TNFRSF11A NM_003839.4(TNFRSF11A):c.*320G>C SNV Uncertain significance 889053 GRCh37: 18:60052587-60052587
GRCh38: 18:62385354-62385354
32 TNFRSF11A NM_003839.4(TNFRSF11A):c.*322C>A SNV Uncertain significance 889054 GRCh37: 18:60052589-60052589
GRCh38: 18:62385356-62385356
33 TNFRSF11A NM_003839.4(TNFRSF11A):c.*420G>C SNV Uncertain significance 889055 GRCh37: 18:60052687-60052687
GRCh38: 18:62385454-62385454
34 TNFRSF11A NM_003839.4(TNFRSF11A):c.*423G>A SNV Uncertain significance 889056 GRCh37: 18:60052690-60052690
GRCh38: 18:62385457-62385457
35 TNFRSF11A NM_003839.4(TNFRSF11A):c.*440C>T SNV Uncertain significance 889057 GRCh37: 18:60052707-60052707
GRCh38: 18:62385474-62385474
36 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1416C>T SNV Uncertain significance 889185 GRCh37: 18:60053683-60053683
GRCh38: 18:62386450-62386450
37 TNFRSF11A NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val) SNV Uncertain significance 327738 rs117028614 GRCh37: 18:60052034-60052034
GRCh38: 18:62384801-62384801
38 TNFRSF11A NM_003839.4(TNFRSF11A):c.*693T>G SNV Uncertain significance 327753 rs886054095 GRCh37: 18:60052960-60052960
GRCh38: 18:62385727-62385727
39 TNFRSF11A NM_003839.4(TNFRSF11A):c.68G>A (p.Arg23Gln) SNV Uncertain significance 327725 rs886054083 GRCh37: 18:59992653-59992653
GRCh38: 18:62325420-62325420
40 TNFRSF11A NM_003839.4(TNFRSF11A):c.*811T>C SNV Uncertain significance 327756 rs886054098 GRCh37: 18:60053078-60053078
GRCh38: 18:62385845-62385845
41 TNFRSF11A NM_003839.4(TNFRSF11A):c.*454T>G SNV Uncertain significance 327746 rs886054090 GRCh37: 18:60052721-60052721
GRCh38: 18:62385488-62385488
42 TNFRSF11A NM_003839.4(TNFRSF11A):c.*556A>G SNV Uncertain significance 327748 rs886054092 GRCh37: 18:60052823-60052823
GRCh38: 18:62385590-62385590
43 TNFRSF11A NM_003839.4(TNFRSF11A):c.*447C>T SNV Uncertain significance 889744 GRCh37: 18:60052714-60052714
GRCh38: 18:62385481-62385481
44 TNFRSF11A NM_003839.4(TNFRSF11A):c.*464T>A SNV Uncertain significance 889745 GRCh37: 18:60052731-60052731
GRCh38: 18:62385498-62385498
45 TNFRSF11A NM_003839.4(TNFRSF11A):c.*759C>G SNV Uncertain significance 889112 GRCh37: 18:60053026-60053026
GRCh38: 18:62385793-62385793
46 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1908T>G SNV Uncertain significance 889867 GRCh37: 18:60054175-60054175
GRCh38: 18:62386942-62386942
47 TNFRSF11A NM_003839.4(TNFRSF11A):c.33G>C (p.Leu11=) SNV Uncertain significance 890490 GRCh37: 18:59992618-59992618
GRCh38: 18:62325385-62325385
48 TNFRSF11A NM_003839.4(TNFRSF11A):c.525T>C (p.Cys175=) SNV Uncertain significance 724616 rs772827300 GRCh37: 18:60027191-60027191
GRCh38: 18:62359958-62359958
49 TNFRSF11A NM_003839.4(TNFRSF11A):c.133C>T (p.Arg45Trp) SNV Uncertain significance 891048 GRCh37: 18:60015458-60015458
GRCh38: 18:62348225-62348225
50 TNFRSF11A NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=) SNV Uncertain significance 287597 rs34966542 GRCh37: 18:60036404-60036404
GRCh38: 18:62369171-62369171

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

72
# 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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 TNFSF11 TNFRSF11A TCIRG1 IMPDH1 HBB CSF1
2
Show member pathways
12.89 TCIRG1 SLC4A4 SLC4A1 CLCN7 ATP6V1B1 ATP6V0A4
3
Show member pathways
12.74 TCIRG1 CSF1 ATP6V1B1 ATP6V0A4 ATP6V0A2
4
Show member pathways
12.22 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
5 11.85 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
6 11.82 TNFSF11 TNFRSF11A CSF1
7 11.81 TCIRG1 ATP6V0A4 ATP6V0A2
8
Show member pathways
11.8 TCIRG1 SLC4A1 ATP6V1B1 ATP6V0A4 ATP6V0A2
9
Show member pathways
11.67 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
10 11.65 TNFSF11 TNFRSF11A CD40LG
11
Show member pathways
11.52 TNFSF11 TNFRSF11A CD40LG
12
Show member pathways
11.44 TNFSF11 TNFRSF11A CD40LG
13 11.14 TNFSF11 TNFRSF11A TCIRG1 CSF1 ATP6V1B1 ATP6V0A4
14 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 membrane GO:0016020 10.32 TNFSF11 TNFRSF11A TCIRG1 SLC4A4 SLC4A1 PRKAG2
2 integral component of membrane GO:0016021 10.18 TNFSF11 TNFRSF11A TCIRG1 SLC4A4 SLC4A1 PRKAG2
3 plasma membrane GO:0005886 10.1 TNFSF11 TNFRSF11A TGFBI TCIRG1 SLC4A4 SLC4A1
4 extracellular exosome GO:0070062 10.03 TGFBI SLC4A4 SLC4A1 HBB ATP6V1B1 ATP6V0A4
5 lysosomal membrane GO:0005765 9.76 TCIRG1 CLCN7 ATP6V0A4 ATP6V0A2
6 endosome membrane GO:0010008 9.67 TCIRG1 ATP6V0A4 ATP6V0A2 ABCB6
7 phagocytic vesicle membrane GO:0030670 9.43 TCIRG1 ATP6V0A4 ATP6V0A2
8 proton-transporting V-type ATPase, V0 domain GO:0033179 9.33 TCIRG1 ATP6V0A4 ATP6V0A2
9 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 9.13 TCIRG1 ATP6V0A4 ATP6V0A2
10 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 25)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.91 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
2 ion transport GO:0006811 9.86 TCIRG1 SLC4A4 SLC4A1 CLCN7 ATP6V1B1 ATP6V0A4
3 proton transmembrane transport GO:1902600 9.8 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2 ATP5F1A
4 tumor necrosis factor-mediated signaling pathway GO:0033209 9.77 TNFSF11 TNFRSF11A CD40LG
5 insulin receptor signaling pathway GO:0008286 9.76 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
6 regulation of macroautophagy GO:0016241 9.74 PRKAG2 ATP6V1B1 ATP6V0A2
7 ossification GO:0001503 9.72 TNFSF11 TNFRSF11A TCIRG1 ATP6V1B1 ATP6V0A4
8 bicarbonate transport GO:0015701 9.7 SLC4A4 SLC4A1 HBB
9 transferrin transport GO:0033572 9.67 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
10 inorganic anion transport GO:0015698 9.62 SLC4A4 SLC4A1
11 bone resorption GO:0045453 9.62 TNFSF11 TCIRG1
12 positive regulation of osteoclast differentiation GO:0045672 9.61 TNFSF11 CSF1
13 positive regulation of bone resorption GO:0045780 9.61 TNFSF11 TNFRSF11A
14 vacuolar acidification GO:0007035 9.61 TCIRG1 ATP6V0A4 ATP6V0A2
15 ion homeostasis GO:0050801 9.59 SLC4A4 SLC4A1
16 regulation of pH GO:0006885 9.58 ATP6V1B1 ATP6V0A4
17 mammary gland alveolus development GO:0060749 9.58 TNFSF11 TNFRSF11A
18 tooth eruption GO:0044691 9.56 TNFSF11 TCIRG1
19 pH reduction GO:0045851 9.55 TCIRG1 ATP6V1B1
20 TNFSF11-mediated signaling pathway GO:0071847 9.54 TNFSF11 TNFRSF11A
21 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.49 TNFSF11 TNFRSF11A
22 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.48 TNFSF11 TNFRSF11A
23 osteoclast differentiation GO:0030316 9.46 TNFSF11 TNFRSF11A TCIRG1 CSF1
24 phagosome acidification GO:0090383 9.26 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
25 osteoclast proliferation GO:0002158 8.8 TNFSF11 TCIRG1 CSF1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.39 TNFSF11 TNFRSF11A TGFBI TCIRG1 SLC4A4 SLC4A1
2 ATPase binding GO:0051117 9.5 TCIRG1 ATP6V0A4 ATP6V0A2
3 chloride transmembrane transporter activity GO:0015108 9.43 SLC4A1 CLCN7
4 anion transmembrane transporter activity GO:0008509 9.4 SLC4A4 SLC4A1
5 inorganic anion exchanger activity GO:0005452 9.37 SLC4A4 SLC4A1
6 hemoglobin binding GO:0030492 9.26 SLC4A1 HBB
7 adenyl ribonucleotide binding GO:0032559 9.16 PRKAG2 ATP5F1A
8 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.13 TCIRG1 ATP6V0A4 ATP6V0A2
9 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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