MCID: OST048
MIFTS: 11

Osteopetrosis and Infantile Neuroaxonal Dystrophy

Categories: Rare diseases, Bone diseases, Neuronal diseases

Aliases & Classifications for Osteopetrosis and Infantile Neuroaxonal Dystrophy

MalaCards integrated aliases for Osteopetrosis and Infantile Neuroaxonal Dystrophy:

Name: Osteopetrosis and Infantile Neuroaxonal Dystrophy 53 49

Characteristics:

OMIM:

53
Inheritance:
? autosomal recessive vs contiguous gene syndrome


HPO:

31
osteopetrosis and infantile neuroaxonal dystrophy:
Mortality/Aging death in infancy


Classifications:



External Ids:

OMIM 53 600329
MedGen 39 C1838258

Summaries for Osteopetrosis and Infantile Neuroaxonal Dystrophy

MalaCards based summary : Osteopetrosis and Infantile Neuroaxonal Dystrophy and has symptoms including agenesis of corpus callosum, abnormality of metabolism/homeostasis and cerebral atrophy.

Description from OMIM: 600329

Related Diseases for Osteopetrosis and Infantile Neuroaxonal Dystrophy

Symptoms & Phenotypes for Osteopetrosis and Infantile Neuroaxonal Dystrophy

Symptoms via clinical synopsis from OMIM:

53
Skel:
infantile osteopetrosis

Misc:
infantile death

Neuro:
infantile neuroaxonal dystrophy
agenesis of corpus callosum
cerebral atrophy
small hippocampus

Lab:
neuroaxonal spheroids in parts of cns and peripheral nerves


Clinical features from OMIM:

600329

Human phenotypes related to Osteopetrosis and Infantile Neuroaxonal Dystrophy:

31
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 cerebral atrophy 31 HP:0002059
4 osteopetrosis 31 HP:0011002

Drugs & Therapeutics for Osteopetrosis and Infantile Neuroaxonal Dystrophy

Search Clinical Trials , NIH Clinical Center for Osteopetrosis and Infantile Neuroaxonal Dystrophy

Genetic Tests for Osteopetrosis and Infantile Neuroaxonal Dystrophy

Anatomical Context for Osteopetrosis and Infantile Neuroaxonal Dystrophy

Publications for Osteopetrosis and Infantile Neuroaxonal Dystrophy

Variations for Osteopetrosis and Infantile Neuroaxonal Dystrophy

Expression for Osteopetrosis and Infantile Neuroaxonal Dystrophy

Search GEO for disease gene expression data for Osteopetrosis and Infantile Neuroaxonal Dystrophy.

Pathways for Osteopetrosis and Infantile Neuroaxonal Dystrophy

GO Terms for Osteopetrosis and Infantile Neuroaxonal Dystrophy

Sources for Osteopetrosis and Infantile Neuroaxonal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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