MCID: INF132
MIFTS: 16

Infantile Osteopetrosis with Neuroaxonal Dysplasia

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Infantile Osteopetrosis with Neuroaxonal Dysplasia

MalaCards integrated aliases for Infantile Osteopetrosis with Neuroaxonal Dysplasia:

Name: Infantile Osteopetrosis with Neuroaxonal Dysplasia 58

Characteristics:

Orphanet epidemiological data:

58
infantile osteopetrosis with neuroaxonal dysplasia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Infantile Osteopetrosis with Neuroaxonal Dysplasia

MalaCards based summary : Infantile Osteopetrosis with Neuroaxonal Dysplasia An important gene associated with Infantile Osteopetrosis with Neuroaxonal Dysplasia is OSTM1 (Osteoclastogenesis Associated Transmembrane Protein 1). Affiliated tissues include bone, brain and bone marrow, and related phenotypes are seizures and global developmental delay

Related Diseases for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Symptoms & Phenotypes for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Human phenotypes related to Infantile Osteopetrosis with Neuroaxonal Dysplasia:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 cranial nerve paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0006824
4 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
5 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
6 partial agenesis of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001338
7 abnormal myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012447
8 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
9 increased skull ossification 58 31 frequent (33%) Frequent (79-30%) HP:0004330
10 hypoplastic hippocampus 58 31 frequent (33%) Frequent (79-30%) HP:0025517
11 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
12 pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002090
13 fetal distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0025116
14 agenesis of corpus callosum 58 Frequent (79-30%)
15 brain atrophy 58 Frequent (79-30%)

Drugs & Therapeutics for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Search Clinical Trials , NIH Clinical Center for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Genetic Tests for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Anatomical Context for Infantile Osteopetrosis with Neuroaxonal Dysplasia

MalaCards organs/tissues related to Infantile Osteopetrosis with Neuroaxonal Dysplasia:

40
Bone, Brain, Bone Marrow

Publications for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Articles related to Infantile Osteopetrosis with Neuroaxonal Dysplasia:

# Title Authors PMID Year
1
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. 6
16813530 2006
2
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. 6
15108279 2004
3
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. 6
12627228 2003
4
Importance of neurological assessment before bone marrow transplantation for osteopetrosis. 6
10325711 1999

Variations for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Expression for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Search GEO for disease gene expression data for Infantile Osteopetrosis with Neuroaxonal Dysplasia.

Pathways for Infantile Osteopetrosis with Neuroaxonal Dysplasia

GO Terms for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Sources for Infantile Osteopetrosis with Neuroaxonal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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