MCID: ATS282
MIFTS: 37

Autosomal Recessive Malignant Osteopetrosis

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Malignant Osteopetrosis

MalaCards integrated aliases for Autosomal Recessive Malignant Osteopetrosis:

Name: Autosomal Recessive Malignant Osteopetrosis 58
Infantile Malignant Osteopetrosis 58 71

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive malignant osteopetrosis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Autosomal Recessive Malignant Osteopetrosis

MalaCards based summary : Autosomal Recessive Malignant Osteopetrosis, also known as infantile malignant osteopetrosis, is related to osteopetrosis, autosomal recessive 5 and osteopetrosis, autosomal recessive 1. An important gene associated with Autosomal Recessive Malignant Osteopetrosis is TCIRG1 (T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3), and among its related pathways/superpathways is Rheumatoid arthritis. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are macrocephaly and abnormality of epiphysis morphology

Related Diseases for Autosomal Recessive Malignant Osteopetrosis

Diseases in the Osteopetrosis family:

Osteopetrosis, Autosomal Dominant 2 Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 2 Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Autosomal Recessive 3 Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Autosomal Recessive 4 Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 7 Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Autosomal Dominant 3 Clcn7-Related Osteopetrosis
Autosomal Recessive Malignant Osteopetrosis

Diseases related to Autosomal Recessive Malignant Osteopetrosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 5 32.8 TCIRG1 CLCN7
2 osteopetrosis, autosomal recessive 1 32.6 TCIRG1 CLCN7
3 osteopetrosis, autosomal recessive 4 32.0 TCIRG1 CLCN7
4 endosteal hyperostosis, autosomal dominant 29.3 TNFSF11 TCIRG1 CLCN7
5 bone disease 29.1 TNFSF11 CLCN7
6 osteopetrosis 28.6 TNFSF11 TCIRG1 SNX10 CLCN7
7 autosomal recessive disease 10.3
8 thrombocytopenia 10.3
9 yemenite deaf-blind hypopigmentation syndrome 10.2
10 clcn7-related osteopetrosis 10.2
11 branchiootic syndrome 1 10.1
12 graft-versus-host disease 10.1
13 pancytopenia 10.1
14 pathologic nystagmus 10.1
15 bone resorption disease 10.0
16 pulmonary hypertension, primary, 1 10.0
17 silver-russell syndrome 10.0
18 strabismus 10.0
19 myelofibrosis 10.0
20 3-methylglutaconic aciduria, type iii 10.0
21 juvenile myelomonocytic leukemia 10.0
22 choanal atresia, posterior 10.0
23 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
24 pulmonary hypertension 10.0
25 hypophosphatemia 10.0
26 hepatic veno-occlusive disease 10.0
27 osteomyelitis 10.0
28 osteomalacia 10.0
29 rickets 10.0
30 respiratory failure 10.0
31 diarrhea 10.0
32 agammaglobulinemia 10.0
33 retinal degeneration 10.0
34 mechanical strabismus 10.0
35 diencephalic syndrome 10.0
36 homologous wasting disease 10.0
37 hypotonia 10.0
38 axial osteomalacia 9.8 TCIRG1 CLCN7
39 fibrogenesis imperfecta ossium 9.8 TCIRG1 CLCN7
40 osteopetrosis, autosomal recessive 6 9.7 TCIRG1 CLCN7
41 renal tubular acidosis 9.6 TCIRG1 CLCN7
42 osteopetrosis, autosomal recessive 2 9.5 TNFSF11 TCIRG1 CLCN7
43 osteopetrosis, autosomal dominant 2 9.4 TNFSF11 TCIRG1 CLCN7
44 pycnodysostosis 9.4 TNFSF11 TCIRG1 CLCN7
45 bone remodeling disease 9.4 TNFSF11 TCIRG1 CLCN7
46 osteopetrosis, autosomal recessive 8 9.2 TCIRG1 SNX10 CLCN7
47 craniodiaphyseal dysplasia 9.2 TCIRG1 SNX10 CLCN7
48 osteopetrosis, autosomal recessive 3 9.2 TCIRG1 SNX10 CLCN7
49 osteoporosis 9.1 TNFSF11 TCIRG1 CLCN7
50 craniometaphyseal dysplasia, autosomal dominant 8.8 TNFSF11 TCIRG1 SNX10 CLCN7

Graphical network of the top 20 diseases related to Autosomal Recessive Malignant Osteopetrosis:



Diseases related to Autosomal Recessive Malignant Osteopetrosis

Symptoms & Phenotypes for Autosomal Recessive Malignant Osteopetrosis

Human phenotypes related to Autosomal Recessive Malignant Osteopetrosis:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
3 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
4 tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0001337
5 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
6 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
7 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
8 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
9 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
10 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
11 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
12 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
13 abnormality of visual evoked potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0000649
14 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
15 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
16 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
17 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
18 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
19 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
20 reduced bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004349
21 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
22 abnormality of temperature regulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0004370
23 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
24 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
25 otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000388
26 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
27 lymphadenopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002716
28 chronic rhinitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002257
29 osteopetrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011002
30 optic nerve compression 58 31 hallmark (90%) Very frequent (99-80%) HP:0007807
31 abnormality of hair texture 58 31 hallmark (90%) Very frequent (99-80%) HP:0010719
32 premature loss of primary teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006323
33 opsoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0010543
34 hypophosphatemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002148
35 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
36 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
37 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
38 hypocalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002901
39 abnormal pulmonary valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001641
40 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
41 pulmonary artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004415
42 abnormality of metabolism/homeostasis 58 Very frequent (99-80%)
43 abnormality of movement 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Autosomal Recessive Malignant Osteopetrosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.62 CLCN7 SNX10 TCIRG1 TNFSF11
2 hematopoietic system MP:0005397 9.56 CLCN7 SNX10 TCIRG1 TNFSF11
3 immune system MP:0005387 9.46 CLCN7 SNX10 TCIRG1 TNFSF11
4 limbs/digits/tail MP:0005371 9.13 CLCN7 TCIRG1 TNFSF11
5 skeleton MP:0005390 8.92 CLCN7 SNX10 TCIRG1 TNFSF11

Drugs & Therapeutics for Autosomal Recessive Malignant Osteopetrosis