OPTB5
MCID: OST120
MIFTS: 26

Osteopetrosis, Autosomal Recessive 5 (OPTB5)

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune 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 75 29 13 6 73
Optb5 57 12 53 75
Infantile Malignant Osteopetrosis 3 12 75
Osteopetrosis, Autosomal Recessive, Type 5 40
Autosomal Recessive Osteopetrosis Type 5 53
Osteopetrosis, Infantile Malignant 3 57
Autosomal Recessive Osteopetrosis 5 12
Osteopetrosis Autosomal Recessive 5 53
Osteopetrosis Infantile Malignant 3 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
osteopetrosis, autosomal recessive 5:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 259720
Disease Ontology 12 DOID:0110939
MedGen 42 C1968603
MeSH 44 D010022
UMLS 73 C1968603

Summaries for Osteopetrosis, Autosomal Recessive 5

NIH Rare Diseases : 53 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, is also known as optb5. An important gene associated with Osteopetrosis, Autosomal Recessive 5 is OSTM1 (Osteoclastogenesis Associated Transmembrane Protein 1). Affiliated tissues include bone, bone marrow and liver, and related phenotypes are hydrocephalus and abnormality of metabolism/homeostasis

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)

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 5

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
clonus
spastic tetraplegia
generalized seizures
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

Respiratory:
respiratory failure

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
pancytopenia
thrombocytopenia
coagulopathy

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

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

Human phenotypes related to Osteopetrosis, Autosomal Recessive 5:

32
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 osteopetrosis 32 HP:0011002
4 decreased osteoclast count 32 HP:0030328

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:

41
Bone, Bone Marrow, Liver, Eye

Publications for Osteopetrosis, Autosomal Recessive 5

Variations for Osteopetrosis, Autosomal Recessive 5

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OSTM1 NM_014028.3(OSTM1): c.949+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome 6, 108370452: 108370452
2 OSTM1 NM_014028.3(OSTM1): c.949+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome 6, 108049248: 108049248
3 OSTM1 NM_014028.3(OSTM1): c.36T> A (p.Cys12Ter) single nucleotide variant Pathogenic rs119460973 GRCh37 Chromosome 6, 108395820: 108395820
4 OSTM1 NM_014028.3(OSTM1): c.36T> A (p.Cys12Ter) single nucleotide variant Pathogenic rs119460973 GRCh38 Chromosome 6, 108074616: 108074616
5 OSTM1 NM_014028.3(OSTM1): c.415_416delAG (p.Gln140Glufs) deletion Pathogenic rs794727287 GRCh37 Chromosome 6, 108385490: 108385491
6 OSTM1 NM_014028.3(OSTM1): c.415_416delAG (p.Gln140Glufs) deletion Pathogenic rs794727287 GRCh38 Chromosome 6, 108064286: 108064287
7 OSTM1 NM_014028.3(OSTM1): c.783+5G> T single nucleotide variant Pathogenic GRCh37 Chromosome 6, 108372230: 108372230
8 OSTM1 NM_014028.3(OSTM1): c.783+5G> T single nucleotide variant Pathogenic GRCh38 Chromosome 6, 108051026: 108051026

Expression for Osteopetrosis, Autosomal Recessive 5

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

Pathways for Osteopetrosis, Autosomal Recessive 5

GO Terms for Osteopetrosis, Autosomal Recessive 5

Sources for Osteopetrosis, Autosomal Recessive 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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