MCID: OST048
MIFTS: 11

Osteopetrosis and Infantile Neuroaxonal Dystrophy

Categories: Rare diseases, Neuronal diseases, Bone diseases

Aliases & Classifications for Osteopetrosis and Infantile Neuroaxonal Dystrophy

MalaCards integrated aliases for Osteopetrosis and Infantile Neuroaxonal Dystrophy:

Name: Osteopetrosis and Infantile Neuroaxonal Dystrophy 57 53

Characteristics:

OMIM:

57
Inheritance:
? autosomal recessive vs contiguous gene syndrome


HPO:

32
osteopetrosis and infantile neuroaxonal dystrophy:
Mortality/Aging death in infancy


Classifications:



External Ids:

OMIM 57 600329
MedGen 42 C1838258

Summaries for Osteopetrosis and Infantile Neuroaxonal Dystrophy

MalaCards based summary : Osteopetrosis and Infantile Neuroaxonal Dystrophy Related phenotypes are abnormality of the skeletal system and agenesis of corpus callosum

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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the skeletal system 32 HP:0000924
2 agenesis of corpus callosum 32 HP:0001274
3 abnormality of metabolism/homeostasis 32 HP:0001939
4 cerebral atrophy 32 HP:0002059
5 osteopetrosis 32 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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