OPTB5
MCID: OST120
MIFTS: 50

Osteopetrosis, Autosomal Recessive 5 (OPTB5)

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 5

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 5:

Name: Osteopetrosis, Autosomal Recessive 5 57 72 29 13 6 70
Optb5 57 12 20 72
Autosomal Recessive Osteopetrosis 5 12 15
Infantile Malignant Osteopetrosis 3 12 72
Osteopetrosis, Autosomal Recessive, Type 5 39
Autosomal Recessive Osteopetrosis Type 5 20
Osteopetrosis, Infantile Malignant 3 57
Osteopetrosis Autosomal Recessive 5 20
Osteopetrosis Infantile Malignant 3 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in first years of life (in some patients)


HPO:

31
osteopetrosis, autosomal recessive 5:
Onset and clinical course stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteopetrosis, Autosomal Recessive 5

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 5, also known as optb5, is related to medullary sponge kidney and fibrogenesis imperfecta ossium. An important gene associated with Osteopetrosis, Autosomal Recessive 5 is OSTM1 (Osteoclastogenesis Associated Transmembrane Protein 1), 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, bone marrow and liver, and related phenotypes are clonus and nystagmus

Disease Ontology : 12 An osteopetrosis characterized by autosomal recessive inheritance that has material basis in mutation in the OSTM1 gene on chromosome 6q21.

OMIM® : 57 Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004). (259720) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Osteopetrosis, autosomal recessive 5: 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. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy.

Related Diseases for Osteopetrosis, Autosomal Recessive 5

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 medullary sponge kidney 10.2 ATP6V1B1 ATP6V0A4
2 fibrogenesis imperfecta ossium 10.2 TCIRG1 OSTM1 CLCN7
3 hereditary distal renal tubular acidosis 10.1 SLC4A1 ATP6V1B1 ATP6V0A4
4 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 10.1 SLC4A1 ATP6V1B1 ATP6V0A4
5 bartter disease 10.1 OSTM1 CLCN7 ATP6V1B1
6 autosomal recessive distal renal tubular acidosis 10.1 SLC4A1 ATP6V1B1 ATP6V0A4
7 osteopetrosis, autosomal dominant 1 10.1 LRP5 CLCN7
8 osteopetrosis, autosomal dominant 2 10.0 TNFSF11 TCIRG1 CLCN7
9 autosomal recessive malignant osteopetrosis 10.0 TNFSF11 TCIRG1 CLCN7
10 craniodiaphyseal dysplasia 10.0 TCIRG1 LRP5 CLCN7
11 osteopetrosis, autosomal recessive 2 10.0 TNFSF11 TCIRG1 OSTM1 CLCN7
12 osteopetrosis, autosomal recessive 8 10.0 TNFSF11 TCIRG1 OSTM1 CLCN7
13 osteopetrosis, autosomal recessive 1 10.0 TCIRG1 IMPDH1 CLCN7 ATP6V1B1 ATP6V0A4
14 pycnodysostosis 10.0 TNFSF11 TCIRG1 OSTM1 CLCN7
15 corneal dystrophy and perceptive deafness 10.0 SLC4A4 SLC4A1
16 autoimmune retinopathy 9.9 CD40LG CA2
17 corneal degeneration 9.9 TGFBI SLC4A4
18 corneal dystrophy, band-shaped 9.9 SLC4A4 CA2
19 axial osteomalacia 9.9 TCIRG1 OSTM1 CLCN7 CA2
20 cenani-lenz syndactyly syndrome 9.9 LRP5 CA8
21 craniometaphyseal dysplasia, autosomal dominant 9.9 TRAPPC10 TNFSF11 TCIRG1 OSTM1 CLCN7
22 distal renal tubular acidosis 9.8 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
23 bone remodeling disease 9.8 TNFSF11 TCIRG1 LRP5 CLCN7
24 nephrolithiasis 9.8 SLC4A1 ATP6V1B1 ATP6V0A4
25 nephrocalcinosis 9.7 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
26 bone disease 9.7 TNFSF11 OSTM1 LRP5 CLCN7
27 hereditary elliptocytosis 9.7 SLC4A1 HBB ATP6V1B1 ATP6V0A4
28 renal tubular transport disease 9.6 SLC4A4 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
29 metabolic acidosis 9.6 SLC4A4 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
30 endosteal hyperostosis, autosomal dominant 9.4 TNFSF11 TCIRG1 OSTM1 LRP5 CLCN7 CA2
31 osteopetrosis, autosomal recessive 3 9.3 TCIRG1 SLC4A4 SLC4A1 OSTM1 CLCN7 CA2
32 renal tubular acidosis 9.2 TCIRG1 SLC4A4 SLC4A1 CLCN7 CA2 ATP6V1B1
33 osteopetrosis 9.1 TNFSF11 TCIRG1 OSTM1 LRP5 CLCN7 CA2
34 osteoporosis 9.1 TNFSF11 TCIRG1 LRP5 CLCN7 CD40LG CA8
35 osteopetrosis, autosomal recessive 7 7.6 TNFSF11 TGFBI TCIRG1 SLC4A4 SLC4A1 PRKAG2
36 osteopetrosis, autosomal recessive 6 7.6 TNFSF11 TGFBI TCIRG1 SLC4A4 SLC4A1 PRKAG2
37 osteopetrosis, autosomal recessive 4 7.6 TNFSF11 TGFBI TCIRG1 SLC4A4 SLC4A1 PRKAG2

Graphical network of the top 20 diseases related to Osteopetrosis, Autosomal Recessive 5:



Diseases related to Osteopetrosis, Autosomal Recessive 5

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 5

Human phenotypes related to Osteopetrosis, Autosomal Recessive 5:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 clonus 31 HP:0002169
2 nystagmus 31 HP:0000639
3 hydrocephalus 31 HP:0000238
4 splenomegaly 31 HP:0001744
5 hepatomegaly 31 HP:0002240
6 gingival overgrowth 31 HP:0000212
7 microcephaly 31 HP:0000252
8 visual impairment 31 HP:0000505
9 optic atrophy 31 HP:0000648
10 short stature 31 HP:0004322
11 spastic tetraplegia 31 HP:0002510
12 anemia 31 HP:0001903
13 ascites 31 HP:0001541
14 micrognathia 31 HP:0000347
15 thrombocytopenia 31 HP:0001873
16 hypocalcemia 31 HP:0002901
17 hepatic failure 31 HP:0001399
18 hyperbilirubinemia 31 HP:0002904
19 respiratory failure 31 HP:0002878
20 optic disc pallor 31 HP:0000543
21 cerebral atrophy 31 HP:0002059
22 osteopetrosis 31 HP:0011002
23 pancytopenia 31 HP:0001876
24 generalized hypotonia 31 HP:0001290
25 generalized-onset seizure 31 HP:0002197
26 muscular hypotonia of the trunk 31 HP:0008936
27 flared metaphysis 31 HP:0003015
28 extramedullary hematopoiesis 31 HP:0001978
29 abnormality of the coagulation cascade 31 HP:0003256
30 absence of renal corticomedullary differentiation 31 HP:0005564
31 decreased osteoclast count 31 HP:0030328

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
clonus
spastic tetraplegia
cerebral atrophy
generalized hypotonia
more
Abdomen Liver:
hepatomegaly
ascites
extramedullary hematopoiesis
liver failure
disarray of liver structure histologically
more
Skeletal Skull:
microcephaly
hypoplastic mandible
intense sclerosis of cranium, especially at base
'harlequin mask' or 'space-alien face' appearance
sclerosis of anterior cranial fossa floor ('prominent eyebrow' appearance)
more
Growth Height:
short stature

Laboratory Abnormalities:
hyperbilirubinemia
elevated serum aspartate-aminotranferase (ast)
elevated serum alanine-aminotransferase (alt)
elevated serum lactate dehydrogenase (ldh)
hypocalcemia, mild

Skeletal Limbs:
metaphyseal flaring
fracture of humerus
fracture of femur
irregular metaphyses of long bones

Head And Neck Mouth:
gum hypertrophy

Head And Neck Teeth:
abnormal dental development

Skeletal Spine:
intense sclerosis of vertebrae

Abdomen Spleen:
splenomegaly

Head And Neck Head:
microcephaly

Head And Neck Eyes:
visual impairment
optic atrophy
pale optic discs
roving nystagmus
exophthalmia, mild
more
Hematology:
anemia
thrombocytopenia
pancytopenia
coagulopathy

Respiratory:
respiratory failure

Growth Other:
growth failure

Skeletal:
hypocellular bone marrow
generalized increase in bone density
loss of corticomedullary differentiation
abnormal thickening of trabeculae
no signs of active bone remodeling/resorption
more
Chest Ribs Sternum Clavicles And Scapulae:
uniform sclerosis of ribs

Neurologic Peripheral Nervous System:
motor nerve conduction abnormalities

Clinical features from OMIM®:

259720 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Osteopetrosis, Autosomal Recessive 5 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.58 PRKAG2
2 Decreased viability GR00221-A-2 9.58 PRKAG2
3 Decreased viability GR00240-S-1 9.58 CD40LG
4 Decreased viability GR00249-S 9.58 CA2 CA8 CLCN7 TGFBI
5 Decreased viability GR00386-A-1 9.58 IMPDH1 SLC4A4 TCIRG1 TNFSF11 TRAPPC10
6 Decreased viability GR00402-S-2 9.58 ATP6V0A2 CLCN7 TCIRG1 TGFBI TNFSF11 TRAPPC10

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 ATP5F1A ATP6V0A4 ATP6V1B1 CA2 CLCN7 LRP5
2 homeostasis/metabolism MP:0005376 10.2 ABCB6 ATP6V0A4 ATP6V1B1 CA2 CD40LG CLCN7
3 hematopoietic system MP:0005397 10.18 ABCB6 ATP6V0A2 CD40LG CLCN7 IMPDH1 LRP5
4 immune system MP:0005387 10.1 ATP6V0A2 CA2 CD40LG CLCN7 IMPDH1 LRP5
5 endocrine/exocrine gland MP:0005379 10.09 ATP6V0A2 CA2 CD40LG LRP5 PRKAG2 TCIRG1
6 craniofacial MP:0005382 10 CLCN7 LRP5 OSTM1 SLC4A4 TCIRG1 TNFSF11
7 mortality/aging MP:0010768 9.97 ABCB6 ATP5F1A ATP6V0A4 CA2 CD40LG CLCN7
8 renal/urinary system MP:0005367 9.5 ATP6V0A4 ATP6V1B1 CA2 CD40LG CLCN7 SLC4A1
9 skeleton MP:0005390 9.36 ATP6V0A4 ATP6V1B1 CA2 CD40LG CLCN7 LRP5

Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 5

Search Clinical Trials , NIH Clinical Center for Osteopetrosis, Autosomal Recessive 5

Genetic Tests for Osteopetrosis, Autosomal Recessive 5

Genetic tests related to Osteopetrosis, Autosomal Recessive 5:

# Genetic test Affiliating Genes
1 Osteopetrosis, Autosomal Recessive 5 29 OSTM1

Anatomical Context for Osteopetrosis, Autosomal Recessive 5

MalaCards organs/tissues related to Osteopetrosis, Autosomal Recessive 5:

40
Bone, Bone Marrow, Liver, Brain

Publications for Osteopetrosis, Autosomal Recessive 5

Articles related to Osteopetrosis, Autosomal Recessive 5:

# Title Authors PMID Year
1
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. 57 6
16813530 2006
2
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. 6 57
15108279 2004
3
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. 6 57
12627228 2003
4
Importance of neurological assessment before bone marrow transplantation for osteopetrosis. 57 6
10325711 1999
5
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. 6
28612835 2017
6
Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation. 57
23772242 2013
7
Severe malignant osteopetrosis caused by a GL gene mutation. 57
15177004 2004
8
Lethal osteopetrosis with multiple fractures in utero. 57
3513575 1986
9
Osteopetrosis cured by temporary parabiosis. 57
4706681 1973

Variations for Osteopetrosis, Autosomal Recessive 5

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 5:

6 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OSTM1 NM_014028.4(OSTM1):c.949+5G>A SNV Pathogenic 2942 rs1562370077 GRCh37: 6:108370452-108370452
GRCh38: 6:108049248-108049248
2 OSTM1 NM_014028.4(OSTM1):c.36T>A (p.Cys12Ter) SNV Pathogenic 2944 rs119460973 GRCh37: 6:108395820-108395820
GRCh38: 6:108074616-108074616
3 OSTM1 NM_014028.4(OSTM1):c.486del (p.Phe162fs) Deletion Pathogenic 802255 rs1582396088 GRCh37: 6:108385420-108385420
GRCh38: 6:108064216-108064216
4 OSTM1 NM_014028.4(OSTM1):c.411_412AG[2] (p.Gln140fs) Microsatellite Pathogenic 195291 rs794727287 GRCh37: 6:108385490-108385491
GRCh38: 6:108064286-108064287
5 OSTM1 NM_014028.4(OSTM1):c.783+5G>T SNV Pathogenic 488566 rs1554250938 GRCh37: 6:108372230-108372230
GRCh38: 6:108051026-108051026
6 OSTM1 NM_014028.4(OSTM1):c.325G>A (p.Val109Met) SNV Uncertain significance 593746 rs1456427265 GRCh37: 6:108395531-108395531
GRCh38: 6:108074327-108074327
7 OSTM1 NM_014028.4(OSTM1):c.*3280T>C SNV Uncertain significance 906624 GRCh37: 6:108362709-108362709
GRCh38: 6:108041505-108041505
8 OSTM1 NM_014028.4(OSTM1):c.*3256A>G SNV Uncertain significance 906625 GRCh37: 6:108362733-108362733
GRCh38: 6:108041529-108041529
9 OSTM1 NM_014028.4(OSTM1):c.8C>T (p.Pro3Leu) SNV Uncertain significance 906827 GRCh37: 6:108395848-108395848
GRCh38: 6:108074644-108074644
10 OSTM1 NM_014028.4(OSTM1):c.*3186T>C SNV Uncertain significance 907647 GRCh37: 6:108362803-108362803
GRCh38: 6:108041599-108041599
11 OSTM1 NM_014028.4(OSTM1):c.*3060G>A SNV Uncertain significance 907648 GRCh37: 6:108362929-108362929
GRCh38: 6:108041725-108041725
12 OSTM1 NM_014028.4(OSTM1):c.*2799A>G SNV Uncertain significance 907649 GRCh37: 6:108363190-108363190
GRCh38: 6:108041986-108041986
13 OSTM1 NM_014028.4(OSTM1):c.558A>G (p.Thr186=) SNV Uncertain significance 907771 GRCh37: 6:108375751-108375751
GRCh38: 6:108054547-108054547
14 OSTM1 NM_014028.4(OSTM1):c.796C>T (p.Arg266Ter) SNV Uncertain significance 632470 rs781715787 GRCh37: 6:108370610-108370610
GRCh38: 6:108049406-108049406
15 OSTM1 NM_014028.4(OSTM1):c.*2317A>C SNV Uncertain significance 354945 rs527256747 GRCh37: 6:108363672-108363672
GRCh38: 6:108042468-108042468
16 OSTM1 NM_014028.4(OSTM1):c.*1399T>A SNV Uncertain significance 354962 rs886060966 GRCh37: 6:108364590-108364590
GRCh38: 6:108043386-108043386
17 OSTM1 NM_014028.4(OSTM1):c.950-12T>C SNV Uncertain significance 354982 rs886060972 GRCh37: 6:108366056-108366056
GRCh38: 6:108044852-108044852
18 OSTM1 NM_014028.4(OSTM1):c.*432T>G SNV Uncertain significance 354974 rs369418567 GRCh37: 6:108365557-108365557
GRCh38: 6:108044353-108044353
19 OSTM1 NM_014028.4(OSTM1):c.*2858A>G SNV Uncertain significance 354931 rs534652017 GRCh37: 6:108363131-108363131
GRCh38: 6:108041927-108041927
20 OSTM1 NM_014028.4(OSTM1):c.-52G>T SNV Uncertain significance 354992 rs886060974 GRCh37: 6:108395907-108395907
GRCh38: 6:108074703-108074703
21 OSTM1 NM_014028.4(OSTM1):c.*2277G>A SNV Uncertain significance 354948 rs778098156 GRCh37: 6:108363712-108363712
GRCh38: 6:108042508-108042508
22 OSTM1 NM_014028.4(OSTM1):c.*953C>T SNV Uncertain significance 354971 rs886060968 GRCh37: 6:108365036-108365036
GRCh38: 6:108043832-108043832
23 OSTM1 NM_014028.4(OSTM1):c.*1469G>A SNV Uncertain significance 354957 rs886060965 GRCh37: 6:108364520-108364520
GRCh38: 6:108043316-108043316
24 OSTM1 NM_014028.4(OSTM1):c.*291A>G SNV Uncertain significance 354977 rs886060970 GRCh37: 6:108365698-108365698
GRCh38: 6:108044494-108044494
25 OSTM1 NM_014028.4(OSTM1):c.*168T>G SNV Uncertain significance 354980 rs571193624 GRCh37: 6:108365821-108365821
GRCh38: 6:108044617-108044617
26 OSTM1 NM_014028.4(OSTM1):c.933A>G (p.Lys311=) SNV Uncertain significance 354983 rs146289365 GRCh37: 6:108370473-108370473
GRCh38: 6:108049269-108049269
27 OSTM1 NM_014028.4(OSTM1):c.*2371G>A SNV Uncertain significance 354940 rs865891537 GRCh37: 6:108363618-108363618
GRCh38: 6:108042414-108042414
28 OSTM1 NM_014028.4(OSTM1):c.*2990T>C SNV Uncertain significance 354929 rs376154345 GRCh37: 6:108362999-108362999
GRCh38: 6:108041795-108041795
29 OSTM1 NM_014028.4(OSTM1):c.*2773G>A SNV Uncertain significance 354932 rs886060959 GRCh37: 6:108363216-108363216
GRCh38: 6:108042012-108042012
30 OSTM1 NM_014028.4(OSTM1):c.-67G>T SNV Uncertain significance 354993 rs532210400 GRCh37: 6:108395922-108395922
GRCh38: 6:108074718-108074718
31 OSTM1 NM_014028.4(OSTM1):c.*2035A>G SNV Uncertain significance 354952 rs548119179 GRCh37: 6:108363954-108363954
GRCh38: 6:108042750-108042750
32 OSTM1 NM_014028.4(OSTM1):c.*1634A>G SNV Uncertain significance 354955 rs886060964 GRCh37: 6:108364355-108364355
GRCh38: 6:108043151-108043151
33 OSTM1 NM_014028.4(OSTM1):c.*873A>G SNV Uncertain significance 354972 rs886060969 GRCh37: 6:108365116-108365116
GRCh38: 6:108043912-108043912
34 OSTM1 NM_014028.4(OSTM1):c.*2145A>T SNV Uncertain significance 354949 rs147517615 GRCh37: 6:108363844-108363844
GRCh38: 6:108042640-108042640
35 OSTM1 NM_014028.4(OSTM1):c.*1205C>G SNV Uncertain significance 354966 rs145514255 GRCh37: 6:108364784-108364784
GRCh38: 6:108043580-108043580
36 OSTM1 NM_014028.4(OSTM1):c.*1455C>T SNV Uncertain significance 354958 rs528241865 GRCh37: 6:108364534-108364534
GRCh38: 6:108043330-108043330
37 OSTM1 NM_014028.4(OSTM1):c.*147G>T SNV Uncertain significance 354981 rs117394334 GRCh37: 6:108365842-108365842
GRCh38: 6:108044638-108044638
38 OSTM1 NM_014028.4(OSTM1):c.784-10C>G SNV Uncertain significance 354984 rs753191662 GRCh37: 6:108370632-108370632
GRCh38: 6:108049428-108049428
39 OSTM1 NM_014028.4(OSTM1):c.*2364A>G SNV Uncertain significance 354941 rs60621815 GRCh37: 6:108363625-108363625
GRCh38: 6:108042421-108042421
40 OSTM1 NM_014028.4(OSTM1):c.*778T>G SNV Uncertain significance 354973 rs756978751 GRCh37: 6:108365211-108365211
GRCh38: 6:108044007-108044007
41 OSTM1 NM_014028.4(OSTM1):c.67C>T (p.Leu23=) SNV Uncertain significance 354991 rs886060973 GRCh37: 6:108395789-108395789
GRCh38: 6:108074585-108074585
42 OSTM1 NM_014028.4(OSTM1):c.*1023A>G SNV Uncertain significance 354970 rs886060967 GRCh37: 6:108364966-108364966
GRCh38: 6:108043762-108043762
43 OSTM1 NM_014028.4(OSTM1):c.*177A>G SNV Uncertain significance 354979 rs886060971 GRCh37: 6:108365812-108365812
GRCh38: 6:108044608-108044608
44 OSTM1 NM_014028.4(OSTM1):c.*1166A>G SNV Uncertain significance 904383 GRCh37: 6:108364823-108364823
GRCh38: 6:108043619-108043619
45 OSTM1 NM_014028.4(OSTM1):c.*1085T>G SNV Uncertain significance 904384 GRCh37: 6:108364904-108364904
GRCh38: 6:108043700-108043700
46 OSTM1 NM_014028.4(OSTM1):c.*1045T>C SNV Uncertain significance 904385 GRCh37: 6:108364944-108364944
GRCh38: 6:108043740-108043740
47 OSTM1 NM_014028.4(OSTM1):c.*2362A>G SNV Uncertain significance 905118 GRCh37: 6:108363627-108363627
GRCh38: 6:108042423-108042423
48 OSTM1 NM_014028.4(OSTM1):c.*2276C>T SNV Uncertain significance 905119 GRCh37: 6:108363713-108363713
GRCh38: 6:108042509-108042509
49 OSTM1 NM_014028.4(OSTM1):c.*1007G>A SNV Uncertain significance 905177 GRCh37: 6:108364982-108364982
GRCh38: 6:108043778-108043778
50 OSTM1 NM_014028.4(OSTM1):c.*872T>C SNV Uncertain significance 905178 GRCh37: 6:108365117-108365117
GRCh38: 6:108043913-108043913

Expression for Osteopetrosis, Autosomal Recessive 5

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Recessive 5.

Pathways for Osteopetrosis, Autosomal Recessive 5

Pathways related to Osteopetrosis, Autosomal Recessive 5 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 TCIRG1 SLC4A1 PRKAG2 IMPDH1 HBB CA8
2
Show member pathways
13.04 TCIRG1 SLC4A4 SLC4A1 OSTM1 CLCN7 ATP6V1B1
3 12.22 SLC4A4 PRKAG2 HBB CA2
4
Show member pathways
12.13 TCIRG1 OSTM1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
5 11.89 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
6
Show member pathways
11.88 TCIRG1 SLC4A1 CA2 ATP6V1B1 ATP6V0A4 ATP6V0A2
7
Show member pathways
11.78 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
8 11.74 TCIRG1 ATP6V0A4 ATP6V0A2
9
Show member pathways
11.04 SLC4A1 HBB CA2
10 10.99 TNFSF11 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
11 10.86 SLC4A4 CA2

GO Terms for Osteopetrosis, Autosomal Recessive 5

Cellular components related to Osteopetrosis, Autosomal Recessive 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.35 TNFSF11 TCIRG1 SLC4A4 SLC4A1 PRKAG2 OSTM1
2 plasma membrane GO:0005886 10.23 TNFSF11 TGFBI TCIRG1 SLC4A4 SLC4A1 LRP5
3 extracellular exosome GO:0070062 9.97 TGFBI SLC4A4 SLC4A1 HBB CA2 ATP6V1B1
4 endosome membrane GO:0010008 9.73 TCIRG1 ATP6V0A4 ATP6V0A2 ABCB6
5 basolateral plasma membrane GO:0016323 9.67 SLC4A4 SLC4A1 CA2 ATP6V1B1
6 lysosomal membrane GO:0005765 9.65 TCIRG1 OSTM1 CLCN7 ATP6V0A4 ATP6V0A2
7 phagocytic vesicle membrane GO:0030670 9.58 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 5 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.85 TCIRG1 OSTM1 CLCN7 ATP6V1B1 ATP6V0A4 ATP6V0A2
2 ossification GO:0001503 9.76 TNFSF11 TCIRG1 ATP6V1B1 ATP6V0A4
3 ion transport GO:0006811 9.76 TCIRG1 SLC4A4 SLC4A1 CLCN7 ATP6V1B1 ATP6V0A4
4 insulin receptor signaling pathway GO:0008286 9.73 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
5 regulation of macroautophagy GO:0016241 9.72 PRKAG2 ATP6V1B1 ATP6V0A2
6 osteoclast differentiation GO:0030316 9.67 TNFSF11 TCIRG1 OSTM1
7 regulation of intracellular pH GO:0051453 9.65 SLC4A4 SLC4A1 CA2
8 proton transmembrane transport GO:1902600 9.65 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2 ATP5F1A
9 bicarbonate transport GO:0015701 9.62 SLC4A4 SLC4A1 HBB CA2
10 bone resorption GO:0045453 9.6 TNFSF11 TCIRG1
11 positive regulation of osteoclast differentiation GO:0045672 9.59 TNFSF11 CA2
12 positive regulation of bone resorption GO:0045780 9.58 TNFSF11 CA2
13 ion homeostasis GO:0050801 9.58 SLC4A4 SLC4A1
14 vacuolar acidification GO:0007035 9.58 TCIRG1 ATP6V0A4 ATP6V0A2
15 regulation of pH GO:0006885 9.57 ATP6V1B1 ATP6V0A4
16 response to pH GO:0009268 9.56 CLCN7 CA2
17 tooth eruption GO:0044691 9.54 TNFSF11 TCIRG1
18 pH reduction GO:0045851 9.52 TCIRG1 ATP6V1B1
19 osteoclast proliferation GO:0002158 9.51 TNFSF11 TCIRG1
20 transferrin transport GO:0033572 9.26 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2
21 phagosome acidification GO:0090383 8.92 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2

Molecular functions related to Osteopetrosis, Autosomal Recessive 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 9.5 TCIRG1 ATP6V0A4 ATP6V0A2
2 hydro-lyase activity GO:0016836 9.48 CA8 CA2
3 chloride transmembrane transporter activity GO:0015108 9.46 SLC4A1 CLCN7
4 carbonate dehydratase activity GO:0004089 9.43 CA8 CA2
5 anion transmembrane transporter activity GO:0008509 9.4 SLC4A4 SLC4A1
6 inorganic anion exchanger activity GO:0005452 9.37 SLC4A4 SLC4A1
7 hemoglobin binding GO:0030492 9.26 SLC4A1 HBB
8 adenyl ribonucleotide binding GO:0032559 9.16 PRKAG2 ATP5F1A
9 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.13 TCIRG1 ATP6V0A4 ATP6V0A2
10 proton transmembrane transporter activity GO:0015078 8.92 TCIRG1 ATP6V1B1 ATP6V0A4 ATP6V0A2

Sources for Osteopetrosis, Autosomal Recessive 5

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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