Information on OPTB5

Basic details

Name: Osteopetrosis, autosomal recessive 5 | Acronym: OPTB5
Alt. names:

Gene: OSTM1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2003

Last updated on: 2023-02-28 16:41:18 by

OMIM: 259720

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing. HSCT has been described. Refs. PMIDs: 3513575; 10325711; 12627228; 15177004; 15108279; 16813530; 17922613; 17985267; 19507210

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported
1 Osteopetrosisarrow icon 5 (99.9%) 0 (0.0%) 0 (0.0%)
2 Cerebral atrophyarrow icon 3 (75.0%) 0 (0.0%) 1 (25.0%)
3 Hypertoniaarrow icon 3 (60.0%) 0 (0.0%) 2 (40.0%)
4 Infantile onsetarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
5 Thrombocytopeniaarrow icon 3 (75.0%) 0 (0.0%) 1 (25.0%)
6 Anemiaarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
7 Muscular hypotonia of the trunkarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
8 Hepatosplenomegalyarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
9 Hyperreflexiaarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
10 Increased bone mineral densityarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
11 Microcephalyarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
12 Neonatal onsetarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
13 Optic atrophyarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
14 Optic disc pallorarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
15 Ventriculomegalyarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
16 Clonusarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
17 Cranial hyperostosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
18 Diffuse white matter abnormalitiesarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
19 Facial palsyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
20 Gingival overgrowtharrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
21 Growth delayarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
22 Hepatomegalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
23 Hip subluxationarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
24 Hypochromic microcytic anemiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
25 Irritabilityarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
26 Leukocytosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
27 Limb hypertoniaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
28 Long philtrumarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
29 Mydriasisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
30 Nystagmusarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
31 Pancytopeniaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
32 Poor head controlarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
33 Proptosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
34 Seizuresarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
35 Severely reduced visual acuityarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
36 Splenomegalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
37 Square facearrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
38 Undetectable visual evoked potentialsarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
39 Visual impairmentarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.