MCID: INF132
MIFTS: 21

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 brain and bone marrow, and related phenotypes are global developmental delay and cranial nerve paralysis

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 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
2 cranial nerve paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0006824
3 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
4 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
5 partial agenesis of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001338
6 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
7 increased skull ossification 58 31 frequent (33%) Frequent (79-30%) HP:0004330
8 abnormal myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012447
9 hypoplastic hippocampus 58 31 frequent (33%) Frequent (79-30%) HP:0025517
10 seizure 31 frequent (33%) HP:0001250
11 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
12 fetal distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0025116
13 pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002090
14 seizures 58 Frequent (79-30%)
15 agenesis of corpus callosum 58 Frequent (79-30%)
16 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
Brain, Bone Marrow

Publications for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Articles related to Infantile Osteopetrosis with Neuroaxonal Dysplasia:

# Title Authors PMID Year
1
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. 6
28612835 2017
2
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. 6
16813530 2006
3
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. 6
15108279 2004
4
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. 6
12627228 2003
5
Importance of neurological assessment before bone marrow transplantation for osteopetrosis. 6
10325711 1999

Variations for Infantile Osteopetrosis with Neuroaxonal Dysplasia

ClinVar genetic disease variations for Infantile Osteopetrosis with Neuroaxonal Dysplasia:

6 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OSTM1 NM_014028.4(OSTM1):c.949+5G>A SNV Pathogenic 2942 rs1562370077 6:108370452-108370452 6:108049248-108049248
2 OSTM1 NM_014028.4(OSTM1):c.36T>A (p.Cys12Ter) SNV Pathogenic 2944 rs119460973 6:108395820-108395820 6:108074616-108074616
3 OSTM1 NM_014028.4(OSTM1):c.486del (p.Phe162fs) Deletion Pathogenic 802255 rs1582396088 6:108385420-108385420 6:108064216-108064216
4 OSTM1 NM_014028.4(OSTM1):c.783+5G>T SNV Pathogenic 488566 rs1554250938 6:108372230-108372230 6:108051026-108051026
5 OSTM1 NM_014028.4(OSTM1):c.411_412AG[2] (p.Gln140fs) Microsatellite Pathogenic 195291 rs794727287 6:108385490-108385491 6:108064286-108064287
6 OSTM1 NM_014028.4(OSTM1):c.325G>A (p.Val109Met) SNV Uncertain significance 593746 rs1456427265 6:108395531-108395531 6:108074327-108074327
7 OSTM1 NM_014028.4(OSTM1):c.*3280T>C SNV Uncertain significance 906624 6:108362709-108362709 6:108041505-108041505
8 OSTM1 NM_014028.4(OSTM1):c.*3256A>G SNV Uncertain significance 906625 6:108362733-108362733 6:108041529-108041529
9 OSTM1 NM_014028.4(OSTM1):c.8C>T (p.Pro3Leu) SNV Uncertain significance 906827 6:108395848-108395848 6:108074644-108074644
10 OSTM1 NM_014028.4(OSTM1):c.*3186T>C SNV Uncertain significance 907647 6:108362803-108362803 6:108041599-108041599
11 OSTM1 NM_014028.4(OSTM1):c.*3060G>A SNV Uncertain significance 907648 6:108362929-108362929 6:108041725-108041725
12 OSTM1 NM_014028.4(OSTM1):c.*2799A>G SNV Uncertain significance 907649 6:108363190-108363190 6:108041986-108041986
13 OSTM1 NM_014028.4(OSTM1):c.558A>G (p.Thr186=) SNV Uncertain significance 907771 6:108375751-108375751 6:108054547-108054547
14 OSTM1 NM_014028.4(OSTM1):c.796C>T (p.Arg266Ter) SNV Uncertain significance 632470 rs781715787 6:108370610-108370610 6:108049406-108049406
15 OSTM1 NM_014028.4(OSTM1):c.*2317A>C SNV Uncertain significance 354945 rs527256747 6:108363672-108363672 6:108042468-108042468
16 OSTM1 NM_014028.4(OSTM1):c.*1399T>A SNV Uncertain significance 354962 rs886060966 6:108364590-108364590 6:108043386-108043386
17 OSTM1 NM_014028.4(OSTM1):c.950-12T>C SNV Uncertain significance 354982 rs886060972 6:108366056-108366056 6:108044852-108044852
18 OSTM1 NM_014028.4(OSTM1):c.*432T>G SNV Uncertain significance 354974 rs369418567 6:108365557-108365557 6:108044353-108044353
19 OSTM1 NM_014028.4(OSTM1):c.*2858A>G SNV Uncertain significance 354931 rs534652017 6:108363131-108363131 6:108041927-108041927
20 OSTM1 NM_014028.4(OSTM1):c.-52G>T SNV Uncertain significance 354992 rs886060974 6:108395907-108395907 6:108074703-108074703
21 OSTM1 NM_014028.4(OSTM1):c.*2277G>A SNV Uncertain significance 354948 rs778098156 6:108363712-108363712 6:108042508-108042508
22 OSTM1 NM_014028.4(OSTM1):c.*953C>T SNV Uncertain significance 354971 rs886060968 6:108365036-108365036 6:108043832-108043832
23 OSTM1 NM_014028.4(OSTM1):c.*1469G>A SNV Uncertain significance 354957 rs886060965 6:108364520-108364520 6:108043316-108043316
24 OSTM1 NM_014028.4(OSTM1):c.*291A>G SNV Uncertain significance 354977 rs886060970 6:108365698-108365698 6:108044494-108044494
25 OSTM1 NM_014028.4(OSTM1):c.*168T>G SNV Uncertain significance 354980 rs571193624 6:108365821-108365821 6:108044617-108044617
26 OSTM1 NM_014028.4(OSTM1):c.933A>G (p.Lys311=) SNV Uncertain significance 354983 rs146289365 6:108370473-108370473 6:108049269-108049269
27 OSTM1 NM_014028.4(OSTM1):c.*2371G>A SNV Uncertain significance 354940 rs865891537 6:108363618-108363618 6:108042414-108042414
28 OSTM1 NM_014028.4(OSTM1):c.*2990T>C SNV Uncertain significance 354929 rs376154345 6:108362999-108362999 6:108041795-108041795
29 OSTM1 NM_014028.4(OSTM1):c.*2773G>A SNV Uncertain significance 354932 rs886060959 6:108363216-108363216 6:108042012-108042012
30 OSTM1 NM_014028.4(OSTM1):c.-67G>T SNV Uncertain significance 354993 rs532210400 6:108395922-108395922 6:108074718-108074718
31 OSTM1 NM_014028.4(OSTM1):c.*2035A>G SNV Uncertain significance 354952 rs548119179 6:108363954-108363954 6:108042750-108042750
32 OSTM1 NM_014028.4(OSTM1):c.*1634A>G SNV Uncertain significance 354955 rs886060964 6:108364355-108364355 6:108043151-108043151
33 OSTM1 NM_014028.4(OSTM1):c.*873A>G SNV Uncertain significance 354972 rs886060969 6:108365116-108365116 6:108043912-108043912
34 OSTM1 NM_014028.4(OSTM1):c.*2145A>T SNV Uncertain significance 354949 rs147517615 6:108363844-108363844 6:108042640-108042640
35 OSTM1 NM_014028.4(OSTM1):c.*1205C>G SNV Uncertain significance 354966 rs145514255 6:108364784-108364784 6:108043580-108043580
36 OSTM1 NM_014028.4(OSTM1):c.*1455C>T SNV Uncertain significance 354958 rs528241865 6:108364534-108364534 6:108043330-108043330
37 OSTM1 NM_014028.4(OSTM1):c.*147G>T SNV Uncertain significance 354981 rs117394334 6:108365842-108365842 6:108044638-108044638
38 OSTM1 NM_014028.4(OSTM1):c.784-10C>G SNV Uncertain significance 354984 rs753191662 6:108370632-108370632 6:108049428-108049428
39 OSTM1 NM_014028.4(OSTM1):c.*2364A>G SNV Uncertain significance 354941 rs60621815 6:108363625-108363625 6:108042421-108042421
40 OSTM1 NM_014028.4(OSTM1):c.*778T>G SNV Uncertain significance 354973 rs756978751 6:108365211-108365211 6:108044007-108044007
41 OSTM1 NM_014028.4(OSTM1):c.67C>T (p.Leu23=) SNV Uncertain significance 354991 rs886060973 6:108395789-108395789 6:108074585-108074585
42 OSTM1 NM_014028.4(OSTM1):c.*1023A>G SNV Uncertain significance 354970 rs886060967 6:108364966-108364966 6:108043762-108043762
43 OSTM1 NM_014028.4(OSTM1):c.*177A>G SNV Uncertain significance 354979 rs886060971 6:108365812-108365812 6:108044608-108044608
44 OSTM1 NM_014028.4(OSTM1):c.*1166A>G SNV Uncertain significance 904383 6:108364823-108364823 6:108043619-108043619
45 OSTM1 NM_014028.4(OSTM1):c.*1085T>G SNV Uncertain significance 904384 6:108364904-108364904 6:108043700-108043700
46 OSTM1 NM_014028.4(OSTM1):c.*1045T>C SNV Uncertain significance 904385 6:108364944-108364944 6:108043740-108043740
47 OSTM1 NM_014028.4(OSTM1):c.*2362A>G SNV Uncertain significance 905118 6:108363627-108363627 6:108042423-108042423
48 OSTM1 NM_014028.4(OSTM1):c.*2276C>T SNV Uncertain significance 905119 6:108363713-108363713 6:108042509-108042509
49 OSTM1 NM_014028.4(OSTM1):c.*1007G>A SNV Uncertain significance 905177 6:108364982-108364982 6:108043778-108043778
50 OSTM1 NM_014028.4(OSTM1):c.*872T>C SNV Uncertain significance 905178 6:108365117-108365117 6:108043913-108043913

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

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