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 58 76 30 13 6 74
Optb8 58 12 76
Osteopetrosis, Autosomal Recessive, Type 8 41
Autosomal Recessive Osteopetrosis 8 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
osteopetrosis, autosomal recessive 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteopetrosis, Autosomal Recessive 8

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 615085

Related Diseases for Osteopetrosis, Autosomal Recessive 8

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 8

Human phenotypes related to Osteopetrosis, Autosomal Recessive 8:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 frontal bossing 33 HP:0002007
3 failure to thrive 33 HP:0001508
4 facial palsy 33 HP:0010628
5 splenomegaly 33 HP:0001744
6 hepatomegaly 33 HP:0002240
7 optic atrophy 33 HP:0000648
8 anemia 33 HP:0001903
9 feeding difficulties 33 HP:0011968
10 thrombocytopenia 33 HP:0001873
11 osteopetrosis 33 HP:0011002

Symptoms via clinical synopsis from OMIM:

58
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 30 SNX10

Anatomical Context for Osteopetrosis, Autosomal Recessive 8

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

42
Bone, Bone Marrow

Publications for Osteopetrosis, Autosomal Recessive 8

Variations for Osteopetrosis, Autosomal Recessive 8

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

76
# 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

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 8:

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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