OPTB8
MCID: OST106
MIFTS: 35

Osteopetrosis, Autosomal Recessive 8 (OPTB8)

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 8

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 8:

Name: Osteopetrosis, Autosomal Recessive 8 56 73 29 13 6 71
Optb8 56 12 73
Autosomal Recessive Osteopetrosis 8 12 15
Osteopetrosis, Autosomal Recessive, Type 8 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
osteopetrosis, autosomal recessive 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110940
OMIM 56 615085
OMIM Phenotypic Series 56 PS259700
MeSH 43 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 osteopetrosis, autosomal recessive 1 and osteopetrosis, autosomal dominant 2. An important gene associated with Osteopetrosis, Autosomal Recessive 8 is SNX10 (Sorting Nexin 10), and among its related pathways/superpathways is Ion channel transport. Affiliated tissues include bone and bone marrow, and related phenotypes are splenomegaly and hepatomegaly

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 18)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 1 9.6 TCIRG1 CLCN7
2 osteopetrosis, autosomal dominant 2 9.6 TCIRG1 CLCN7
3 osteopetrosis, autosomal recessive 4 9.6 TCIRG1 CLCN7
4 osteopetrosis, autosomal recessive 7 9.6 TCIRG1 CLCN7
5 osteopetrosis, autosomal recessive 6 9.5 TCIRG1 CLCN7
6 pycnodysostosis 9.5 TCIRG1 CLCN7
7 renal tubular acidosis 9.4 TCIRG1 CLCN7
8 autosomal recessive malignant osteopetrosis 9.4 TCIRG1 SNX10 CLCN7
9 craniodiaphyseal dysplasia 9.3 TCIRG1 SNX10 CLCN7
10 osteopetrosis, autosomal recessive 3 9.3 TCIRG1 SNX10 CLCN7
11 axial osteomalacia 9.3 TCIRG1 OSTM1 CLCN7
12 fibrogenesis imperfecta ossium 9.3 TCIRG1 OSTM1 CLCN7
13 osteopetrosis, autosomal recessive 5 9.3 TCIRG1 OSTM1 CLCN7
14 osteopetrosis, autosomal recessive 2 9.3 TCIRG1 OSTM1 CLCN7
15 bone remodeling disease 9.2 TCIRG1 CLCN7
16 endosteal hyperostosis, autosomal dominant 9.2 TCIRG1 OSTM1 CLCN7
17 osteopetrosis 9.0 TCIRG1 SNX10 OSTM1 CLCN7
18 craniometaphyseal dysplasia, autosomal dominant 9.0 TCIRG1 SNX10 OSTM1 CLCN7

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 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 macrocephaly 31 HP:0000256
4 optic atrophy 31 HP:0000648
5 failure to thrive 31 HP:0001508
6 feeding difficulties 31 HP:0011968
7 anemia 31 HP:0001903
8 frontal bossing 31 HP:0002007
9 thrombocytopenia 31 HP:0001873
10 facial palsy 31 HP:0010628
11 osteopetrosis 31 HP:0011002

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Head And Neck Head:
macrocephaly
frontal bossing
open fontanel

Growth Other:
failure to thrive

Laboratory Abnormalities:
elevated lactate dehydrogenase

Abdomen Gastrointestinal:
feeding problems

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

Abdomen Liver:
hepatomegaly

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

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 8:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.72 CLCN7 OCSTAMP OSTM1 SNX10 TCIRG1
2 craniofacial MP:0005382 9.67 CLCN7 OSTM1 SNX10 TCIRG1
3 homeostasis/metabolism MP:0005376 9.65 CLCN7 OCSTAMP OSTM1 SNX10 TCIRG1
4 immune system MP:0005387 9.55 CLCN7 OCSTAMP OSTM1 SNX10 TCIRG1
5 limbs/digits/tail MP:0005371 9.13 CLCN7 OSTM1 TCIRG1
6 skeleton MP:0005390 9.02 CLCN7 OCSTAMP OSTM1 SNX10 TCIRG1

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. 56 6
23123320 2013
2
An SNX10 mutation causes malignant osteopetrosis of infancy. 6 56
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 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
11.29 TCIRG1 OSTM1 CLCN7

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 lysosome GO:0005764 9.13 TCIRG1 OSTM1 CLCN7
2 lysosomal membrane GO:0005765 8.8 TCIRG1 OSTM1 CLCN7

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

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.43 TCIRG1 OSTM1 CLCN7
2 bone resorption GO:0045453 9.16 TCIRG1 SNX10
3 tooth eruption GO:0044691 8.96 TCIRG1 SNX10
4 osteoclast differentiation GO:0030316 8.8 TCIRG1 SNX10 OSTM1

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

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 8.62 TCIRG1 SNX10

Sources for Osteopetrosis, Autosomal Recessive 8

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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