OPTB8
MCID: OST106
MIFTS: 23

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 57 74 29 13 6 72
Optb8 57 12 74
Osteopetrosis, Autosomal Recessive, Type 8 40
Autosomal Recessive Osteopetrosis 8 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
osteopetrosis, autosomal recessive 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110940
MeSH 44 D010022
UMLS 72 C3554478

Summaries for Osteopetrosis, Autosomal Recessive 8

UniProtKB/Swiss-Prot : 74 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, is also known as optb8. An important gene associated with Osteopetrosis, Autosomal Recessive 8 is SNX10 (Sorting Nexin 10). Affiliated tissues include bone and bone marrow, and related phenotypes are macrocephaly and frontal bossing

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

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 8

Human phenotypes related to Osteopetrosis, Autosomal Recessive 8:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 frontal bossing 32 HP:0002007
3 failure to thrive 32 HP:0001508
4 facial palsy 32 HP:0010628
5 splenomegaly 32 HP:0001744
6 hepatomegaly 32 HP:0002240
7 optic atrophy 32 HP:0000648
8 anemia 32 HP:0001903
9 feeding difficulties 32 HP:0011968
10 thrombocytopenia 32 HP:0001873
11 osteopetrosis 32 HP:0011002

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
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. 8 71
23123320 2013
2
An SNX10 mutation causes malignant osteopetrosis of infancy. 8 71
22499339 2012

Variations for Osteopetrosis, Autosomal Recessive 8

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 8:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SNX10 NM_001199835.1(SNX10): c.152G> A (p.Arg51Gln) single nucleotide variant Pathogenic rs398123011 7:26404195-26404195 7:26364575-26364575
2 SNX10 NM_001199835.1(SNX10): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs587777490 7:26400616-26400616 7:26360996-26360996

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

74
# 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

GO Terms for Osteopetrosis, Autosomal Recessive 8

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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