OPTB8
MCID: OST106
MIFTS: 41

Osteopetrosis, Autosomal Recessive 8 (OPTB8)

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 8

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 8:

Name: Osteopetrosis, Autosomal Recessive 8 57 73 29 13 6 71
Optb8 57 12 73
Autosomal Recessive Osteopetrosis 8 12 15
Osteopetrosis, Autosomal Recessive, Type 8 39

Characteristics:

OMIM®:

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


HPO:

31
osteopetrosis, autosomal recessive 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110940
OMIM® 57 615085
OMIM Phenotypic Series 57 PS259700
MeSH 44 D010022
UMLS 71 C3554478

Summaries for Osteopetrosis, Autosomal Recessive 8

UniProtKB/Swiss-Prot : 73 Osteopetrosis, autosomal recessive 8: 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. OPTB8 is clinically characterized by dense bones with no distinction between outer and inner plates, due to extensive encroachment of cortical bone into the medullary space, increased head circumference, broad open fontanelle, frontal bossing, and hepatosplenomegaly. Osteoclasts number is low and their bone resorptive capacity is impaired.

MalaCards based summary : Osteopetrosis, Autosomal Recessive 8, also known as optb8, is related to axial osteomalacia and fibrogenesis imperfecta ossium. An important gene associated with Osteopetrosis, Autosomal Recessive 8 is SNX10 (Sorting Nexin 10), and among its related pathways/superpathways are RANK Signaling in Osteoclasts and Lysosome. Affiliated tissues include bone and bone marrow, and related phenotypes are macrocephaly and failure to thrive

Disease Ontology : 12 An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the SNX10 gene on chromosome 7p15.

More information from OMIM: 615085 PS259700

Related Diseases for Osteopetrosis, Autosomal Recessive 8

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 axial osteomalacia 10.2 TCIRG1 OSTM1 CLCN7
2 fibrogenesis imperfecta ossium 10.2 TCIRG1 OSTM1 CLCN7
3 osteopetrosis, autosomal recessive 1 10.1 TCIRG1 CLCN7
4 craniodiaphyseal dysplasia 10.1 TCIRG1 SNX10 PLEKHM1 CLCN7
5 osteopetrosis, autosomal recessive 3 10.1 TCIRG1 SNX10 OSTM1 CLCN7
6 osteopetrosis, autosomal recessive 4 10.0 TNFSF11 TCIRG1 CLCN7
7 osteopetrosis, autosomal recessive 7 10.0 TNFSF11 TCIRG1 CLCN7
8 autosomal recessive malignant osteopetrosis 9.9 TNFSF11 TCIRG1 SNX10 CLCN7
9 osteopetrosis, autosomal recessive 5 9.9 TNFSF11 TCIRG1 OSTM1 CLCN7
10 osteopetrosis, autosomal recessive 6 9.9 TNFSF11 TCIRG1 PLEKHM1 CLCN7
11 craniometaphyseal dysplasia, autosomal dominant 9.9 TNFSF11 TCIRG1 OSTM1 CLCN7
12 osteopetrosis, autosomal dominant 2 9.7 TNFSF11 TCIRG1 CLCN7 ACP5
13 hajdu-cheney syndrome 9.7 TNFSF11 NFATC1
14 femoral cancer 9.7 TNFSF11 ACP5
15 periapical periodontitis 9.6 TNFSF11 CTSK ACP5
16 periodontitis 9.6 TNFSF11 CTSK ACP5
17 tooth resorption 9.6 TNFSF11 CTSK ACP5
18 paget's disease of bone 9.6 TNFSF11 DCSTAMP ACP5
19 multicentric carpotarsal osteolysis syndrome 9.6 TNFSF11 CTSK ACP5
20 osteonecrosis 9.6 TNFSF11 NFATC1 ACP5
21 bone benign neoplasm 9.5 TNFSF11 ITGAV CTSK ACP5
22 bone giant cell tumor 9.5 TNFSF11 ITGAV CTSK ACP5
23 ischemic bone disease 9.4 TNFSF11 NFATC1 CTSK ACP5
24 odontochondrodysplasia 9.4 TNFSF11 CTSK CLCN7 ACP5
25 osteomyelitis 9.4 TNFSF11 NFATC1 CTSK ACP5
26 bone resorption disease 9.3 TNFSF11 NFATC1 DCSTAMP CTSK ACP5
27 pycnodysostosis 9.2 TNFSF11 TCIRG1 PLEKHM1 OSTM1 CTSK CLCN7
28 bone disease 9.2 TNFSF11 OSTM1 NFATC1 CTSK CLCN7 ACP5
29 osteoporosis 9.1 TNFSF11 TCIRG1 NFATC1 CTSK CLCN7 ACP5
30 endosteal hyperostosis, autosomal dominant 9.1 TNFSF11 TCIRG1 OSTM1 NFATC1 CTSK CLCN7
31 bone remodeling disease 9.1 TNFSF11 TCIRG1 NFATC1 DCSTAMP CTSK CLCN7
32 osteopetrosis, autosomal recessive 2 9.0 TNFSF11 TCIRG1 PLEKHM1 OSTM1 NFATC1 CTSK
33 osteopetrosis 8.4 TNFSF11 TCIRG1 SNX10 PLEKHM1 OSTM1 NFATC1

Graphical network of the top 20 diseases related to Osteopetrosis, Autosomal Recessive 8:



Diseases related to Osteopetrosis, Autosomal Recessive 8

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 8

Human phenotypes related to Osteopetrosis, Autosomal Recessive 8:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 failure to thrive 31 HP:0001508
3 frontal bossing 31 HP:0002007
4 facial palsy 31 HP:0010628
5 splenomegaly 31 HP:0001744
6 hepatomegaly 31 HP:0002240
7 optic atrophy 31 HP:0000648
8 anemia 31 HP:0001903
9 thrombocytopenia 31 HP:0001873
10 feeding difficulties 31 HP:0011968
11 osteopetrosis 31 HP:0011002

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly
frontal bossing
open fontanel

Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Laboratory Abnormalities:
elevated lactate dehydrogenase

Abdomen Gastrointestinal:
feeding problems

Skeletal:
dense bones
narrowed medullary space due to encroachment of cortical bone

Skeletal Skull:
macrocephaly
open fontanel
sclerosis of semicircular canals
narrow optic canal
narrow auditory canal
more
Abdomen Spleen:
splenomegaly

Hematology:
anemia
thrombocytopenia

Head And Neck Eyes:
optic nerve atrophy
vision loss, unilateral or bilateral

Head And Neck Face:
facial nerve palsy

Head And Neck Ears:
narrowed auditory canal
sclerosis of semicircular canals

Clinical features from OMIM®:

615085 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.1 CLCN7 CTSK DCSTAMP HP ITGAV ITGB3
2 immune system MP:0005387 10 CLCN7 CTSK DCSTAMP HP ITGAV ITGB3
3 craniofacial MP:0005382 9.92 CLCN7 CTSK ITGAV NFATC1 OSTM1 SNX10
4 limbs/digits/tail MP:0005371 9.56 CLCN7 CTSK NFATC1 OSTM1 PLEKHM1 SNX10
5 skeleton MP:0005390 9.36 CLCN7 CTSK DCSTAMP ITGB3 NFATC1 OCSTAMP

Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 8

Search Clinical Trials , NIH Clinical Center for Osteopetrosis, Autosomal Recessive 8

Genetic Tests for Osteopetrosis, Autosomal Recessive 8

Genetic tests related to Osteopetrosis, Autosomal Recessive 8:

# Genetic test Affiliating Genes
1 Osteopetrosis, Autosomal Recessive 8 29 SNX10

Anatomical Context for Osteopetrosis, Autosomal Recessive 8

MalaCards organs/tissues related to Osteopetrosis, Autosomal Recessive 8:

40
Bone, Bone Marrow

Publications for Osteopetrosis, Autosomal Recessive 8

Articles related to Osteopetrosis, Autosomal Recessive 8:

# Title Authors PMID Year
1
Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. 57 6
23123320 2013
2
An SNX10 mutation causes malignant osteopetrosis of infancy. 57 6
22499339 2012

Variations for Osteopetrosis, Autosomal Recessive 8

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SNX10 NM_001199835.1(SNX10):c.152G>A (p.Arg51Gln) SNV Pathogenic 40050 rs398123011 7:26404195-26404195 7:26364575-26364575
2 SNX10 NM_001199835.1(SNX10):c.46C>T (p.Arg16Ter) SNV Pathogenic 139565 rs587777490 7:26400616-26400616 7:26360996-26360996
3 SNX10 NM_013322.3(SNX10):c.151C>T (p.Arg51Ter) SNV Likely pathogenic 804401 rs1353879401 7:26404194-26404194 7:26364574-26364574

UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis, Autosomal Recessive 8:

73
# Symbol AA change Variation ID SNP ID
1 SNX10 p.Arg16Leu VAR_069299 rs779298714
2 SNX10 p.Tyr32Ser VAR_069300 rs771038257
3 SNX10 p.Arg51Pro VAR_069301
4 SNX10 p.Arg51Gln VAR_069302 rs398123011

Expression for Osteopetrosis, Autosomal Recessive 8

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Recessive 8.

Pathways for Osteopetrosis, Autosomal Recessive 8

Pathways related to Osteopetrosis, Autosomal Recessive 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 TNFSF11 NFATC1 CTSK ACP5
2 11.69 TCIRG1 CTSK ACP5
3 11.53 TNFSF11 TCIRG1 CTSK ACP5
4 11.46 TNFSF11 NFATC1 ITGB3 CTSK ACP5
5 10.76 ITGB3 ITGAV
6 10.48 TNFSF11 ITGB3 ITGAV
7 10.4 ITGB3 ITGAV
8 10.13 TNFSF11 ITGB3 CTSK ACP5

GO Terms for Osteopetrosis, Autosomal Recessive 8

Cellular components related to Osteopetrosis, Autosomal Recessive 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.73 TCIRG1 PLEKHM1 OSTM1 CLCN7
2 endosome membrane GO:0010008 9.67 TCIRG1 SNX10 PLEKHM1 DCSTAMP
3 lamellipodium membrane GO:0031258 9.46 ITGB3 ITGAV
4 filopodium membrane GO:0031527 9.4 ITGB3 ITGAV
5 alphav-beta3 integrin-IGF-1-IGF1R complex GO:0035867 9.32 ITGB3 ITGAV
6 alphav-beta3 integrin-HMGB1 complex GO:0035868 9.26 ITGB3 ITGAV
7 alphav-beta3 integrin-PKCalpha complex GO:0035866 9.16 ITGB3 ITGAV
8 lysosome GO:0005764 9.1 TCIRG1 PLEKHM1 OSTM1 CTSK CLCN7 ACP5
9 integrin alphav-beta3 complex GO:0034683 8.96 ITGB3 ITGAV

Biological processes related to Osteopetrosis, Autosomal Recessive 8 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.71 TNFSF11 TCIRG1 ACP5
2 viral entry into host cell GO:0046718 9.69 SLC1A5 ITGB3 ITGAV
3 positive regulation of osteoclast differentiation GO:0045672 9.58 TNFSF11 OCSTAMP
4 cell adhesion mediated by integrin GO:0033627 9.57 ITGB3 ITGAV
5 apoptotic cell clearance GO:0043277 9.56 ITGB3 ITGAV
6 cell-substrate adhesion GO:0031589 9.55 ITGB3 ITGAV
7 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.52 ITGB3 ITGAV
8 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.49 ITGB3 ITGAV
9 negative regulation of lipid storage GO:0010888 9.48 ITGB3 ITGAV
10 apolipoprotein A-I-mediated signaling pathway GO:0038027 9.46 ITGB3 ITGAV
11 positive regulation of macrophage fusion GO:0034241 9.43 OCSTAMP DCSTAMP
12 positive regulation of bone resorption GO:0045780 9.43 TNFSF11 PLEKHM1 DCSTAMP
13 negative regulation of lipid transport GO:0032369 9.4 ITGB3 ITGAV
14 osteoclast proliferation GO:0002158 9.37 TNFSF11 TCIRG1
15 osteoclast differentiation GO:0030316 9.35 TNFSF11 TCIRG1 SNX10 OSTM1 DCSTAMP
16 tooth eruption GO:0044691 9.33 TNFSF11 TCIRG1 SNX10
17 negative regulation of lipoprotein metabolic process GO:0050748 9.32 ITGB3 ITGAV
18 bone resorption GO:0045453 9.02 TNFSF11 TCIRG1 SNX10 CTSK ACP5

Molecular functions related to Osteopetrosis, Autosomal Recessive 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 9.43 SLC1A5 ITGB3 ITGAV
2 fibroblast growth factor binding GO:0017134 9.37 ITGB3 ITGAV
3 insulin-like growth factor I binding GO:0031994 9.32 ITGB3 ITGAV
4 neuregulin binding GO:0038132 9.16 ITGB3 ITGAV
5 C-X3-C chemokine binding GO:0019960 8.96 ITGB3 ITGAV
6 fibronectin binding GO:0001968 8.8 ITGB3 ITGAV CTSK

Sources for Osteopetrosis, Autosomal Recessive 8

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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