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Osteopetrosis, autosomal recessive 9(OPTB9)

MedGen UID:
1841123
Concept ID:
C5830487
Disease or Syndrome
Synonyms: OPTB9; OSTEOPETROSIS, IKEGAWA TYPE
 
Gene (location): SLC4A2 (7q36.1)
 
Monarch Initiative: MONDO:0957262
OMIM®: 620366

Definition

Autosomal recessive osteopetrosis-9 (OPTB9) is characterized by increased bone density and bone fragility, as well as renal failure. Vision may be compromised due to compression of the optic nerve secondary to osteopetrotic stenosis of the optic nerve canal (Xue et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive osteopetrosis, see OPTB1 (259700). [from OMIM]

Clinical features

From HPO
Stage 3 chronic kidney disease
MedGen UID:
389222
Concept ID:
C2316787
Disease or Syndrome
A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Pathologic fracture
MedGen UID:
42095
Concept ID:
C0016663
Pathologic Function
A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
Osteopetrosis
MedGen UID:
18223
Concept ID:
C0029454
Finding
Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.
Increased bone mineral density
MedGen UID:
10502
Concept ID:
C0029464
Disease or Syndrome
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
Thick skull base
MedGen UID:
326511
Concept ID:
C1839507
Finding
Cortical sclerosis
MedGen UID:
870710
Concept ID:
C4025164
Pathologic Function
Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.
Hyperkalemia
MedGen UID:
5691
Concept ID:
C0020461
Finding
An abnormally increased potassium concentration in the blood.
Elevated circulating creatinine concentration
MedGen UID:
148579
Concept ID:
C0700225
Finding
An increased amount of creatinine in the blood.
Elevated circulating alkaline phosphatase concentration
MedGen UID:
727252
Concept ID:
C1314665
Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Hyperparathyroidism
MedGen UID:
6967
Concept ID:
C0020502
Disease or Syndrome
Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
Optic papillitis
MedGen UID:
10565
Concept ID:
C0030353
Finding
Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.

Professional guidelines

PubMed

Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH
Nat Rev Endocrinol 2013 Sep;9(9):522-36. Epub 2013 Jul 23 doi: 10.1038/nrendo.2013.137. PMID: 23877423

Recent clinical studies

Etiology

Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D, Vanakker OM, De Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kühl JS, Caldana E, Lo Iacono N, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C
J Bone Miner Res 2013 May;28(5):1041-9. doi: 10.1002/jbmr.1849. PMID: 23280965
Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK
Brain 2011 Dec;134(Pt 12):3502-15. Epub 2011 Nov 26 doi: 10.1093/brain/awr302. PMID: 22120147
Waguespack SG, Hui SL, Dimeglio LA, Econs MJ
J Clin Endocrinol Metab 2007 Mar;92(3):771-8. Epub 2006 Dec 12 doi: 10.1210/jc.2006-1986. PMID: 17164308
Dozier TS, Duncan IM, Klein AJ, Lambert PR, Key LL Jr
Otol Neurotol 2005 Jul;26(4):762-6. doi: 10.1097/01.mao.0000178139.27472.8d. PMID: 16015181
Rees H, Ang LC, Casey R, George DH
Pediatr Neurosurg 1995;22(6):321-7. doi: 10.1159/000120923. PMID: 7577667

Diagnosis

Dudiki T, Nascimento DW, Childs LS, Kareti S, Androjna C, Zhevlakova I, Byzova TV
Bone 2022 Jul;160:116397. Epub 2022 Mar 25 doi: 10.1016/j.bone.2022.116397. PMID: 35342016Free PMC Article
Liang H, Li N, Yao RE, Yu T, Ding L, Chen J, Wang J
Mol Genet Genomic Med 2021 Nov;9(11):e1815. Epub 2021 Sep 21 doi: 10.1002/mgg3.1815. PMID: 34545712Free PMC Article
Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH
Nat Rev Endocrinol 2013 Sep;9(9):522-36. Epub 2013 Jul 23 doi: 10.1038/nrendo.2013.137. PMID: 23877423
Rees H, Ang LC, Casey R, George DH
Pediatr Neurosurg 1995;22(6):321-7. doi: 10.1159/000120923. PMID: 7577667
Elster AD, Theros EG, Key LL, Chen MY
Radiology 1992 Apr;183(1):137-44. doi: 10.1148/radiology.183.1.1549660. PMID: 1549660

Therapy

Shadur B, Zaidman I, NaserEddin A, Lokshin E, Hussein F, Oron HC, Avni B, Grisariu S, Stepensky P
Pediatr Blood Cancer 2018 Jun;65(6):e27010. Epub 2018 Feb 22 doi: 10.1002/pbc.27010. PMID: 29469225
Moscatelli I, Löfvall H, Schneider Thudium C, Rothe M, Montano C, Kertész Z, Sirin M, Schulz A, Schambach A, Henriksen K, Richter J
Hum Gene Ther 2018 Aug;29(8):938-949. Epub 2017 Oct 3 doi: 10.1089/hum.2017.053. PMID: 28726516
Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK
Brain 2011 Dec;134(Pt 12):3502-15. Epub 2011 Nov 26 doi: 10.1093/brain/awr302. PMID: 22120147
Tolar J, Bonfim C, Grewal S, Orchard P
Bone Marrow Transplant 2006 Dec;38(12):783-7. Epub 2006 Nov 6 doi: 10.1038/sj.bmt.1705533. PMID: 17086207

Prognosis

Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D, Vanakker OM, De Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kühl JS, Caldana E, Lo Iacono N, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C
J Bone Miner Res 2013 May;28(5):1041-9. doi: 10.1002/jbmr.1849. PMID: 23280965
Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK
Brain 2011 Dec;134(Pt 12):3502-15. Epub 2011 Nov 26 doi: 10.1093/brain/awr302. PMID: 22120147
Dozier TS, Duncan IM, Klein AJ, Lambert PR, Key LL Jr
Otol Neurotol 2005 Jul;26(4):762-6. doi: 10.1097/01.mao.0000178139.27472.8d. PMID: 16015181
Rees H, Ang LC, Casey R, George DH
Pediatr Neurosurg 1995;22(6):321-7. doi: 10.1159/000120923. PMID: 7577667

Clinical prediction guides

Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
Zhang Y, Ji D, Li L, Yang S, Zhang H, Duan X
Theranostics 2019;9(5):1387-1400. Epub 2019 Feb 20 doi: 10.7150/thno.29761. PMID: 30867839Free PMC Article
Dozier TS, Duncan IM, Klein AJ, Lambert PR, Key LL Jr
Otol Neurotol 2005 Jul;26(4):762-6. doi: 10.1097/01.mao.0000178139.27472.8d. PMID: 16015181
Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A, Vacher J
Nat Med 2003 Apr;9(4):399-406. Epub 2003 Mar 10 doi: 10.1038/nm842. PMID: 12627228
Elster AD, Theros EG, Key LL, Chen MY
Radiology 1992 Apr;183(1):137-44. doi: 10.1148/radiology.183.1.1549660. PMID: 1549660

Recent systematic reviews

Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article

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