MCID: MDR004
MIFTS: 28

Madras Motor Neuron Disease

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Madras Motor Neuron Disease

MalaCards integrated aliases for Madras Motor Neuron Disease:

Name: Madras Motor Neuron Disease 53 59
Mmnd 53 59

Characteristics:

Orphanet epidemiological data:

59
madras motor neuron disease
Inheritance: Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Madras Motor Neuron Disease

MalaCards based summary : Madras Motor Neuron Disease, also known as mmnd, is related to brown-vialetto-van laere syndrome and motor neuron disease. An important gene associated with Madras Motor Neuron Disease is SLC52A1 (Solute Carrier Family 52 Member 1), and among its related pathways/superpathways is Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include cerebellum, and related phenotypes are sensorineural hearing impairment and bulbar palsy

Wikipedia : 76 Madras motor neuron disease (MMND) is a rare motor neuron disease originating in South India. Two other... more...

Related Diseases for Madras Motor Neuron Disease

Diseases related to Madras Motor Neuron Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brown-vialetto-van laere syndrome 28.0 SLC52A1 SLC52A2 SLC52A3
2 motor neuron disease 10.5
3 neuronitis 10.5
4 brown-vialetto-van laere syndrome 1 10.0
5 riboflavin transporter deficiency 10.0
6 chronic apical periodontitis 9.3 SLC52A2 SLC52A3
7 progressive bulbar palsy 9.2 SLC52A2 SLC52A3
8 riboflavin deficiency 9.2 SLC52A1 SLC52A3

Graphical network of the top 20 diseases related to Madras Motor Neuron Disease:



Diseases related to Madras Motor Neuron Disease

Symptoms & Phenotypes for Madras Motor Neuron Disease

Human phenotypes related to Madras Motor Neuron Disease:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 bulbar palsy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001283
3 weak voice 59 32 frequent (33%) Frequent (79-30%) HP:0001621
4 distal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002460
5 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
6 distal amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003693
7 hyperactive deep tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0006801
8 limb fasciculations 59 32 frequent (33%) Frequent (79-30%) HP:0007289
9 tinnitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000360
10 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
11 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
12 reduced tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001315
13 abnormality of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001317
14 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
15 schizophrenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100753
16 reduced visual acuity 59 32 very rare (1%) Very rare (<4-1%) HP:0007663
17 facial palsy 59 32 very rare (1%) Very rare (<4-1%) HP:0010628

Drugs & Therapeutics for Madras Motor Neuron Disease

Search Clinical Trials , NIH Clinical Center for Madras Motor Neuron Disease

Genetic Tests for Madras Motor Neuron Disease

Anatomical Context for Madras Motor Neuron Disease

MalaCards organs/tissues related to Madras Motor Neuron Disease:

41
Cerebellum

Publications for Madras Motor Neuron Disease

Articles related to Madras Motor Neuron Disease:

# Title Authors Year
1
Chin fasciculations in Madras motor neuron disease: a new clinical feature. ( 24441336 )
2013
2
Mitochondrial DNA variations in Madras motor neuron disease. ( 23419391 )
2013
3
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. ( 24139842 )
2013
4
Madras motor neuron disease: crossing borders. ( 23286753 )
2013
5
Madras motor neuron disease in Turkey. ( 19922122 )
2009
6
First case of Madras motor neuron disease from Korea. ( 18563717 )
2008
7
Madras motor neuron disease (MMND): clinical description and survival pattern of 116 patients from Southern India seen over 36 years (1971-2007). ( 18261745 )
2008
8
Familial Madras motor neuron disease (FMMND): study of 15 families from southern India. ( 17010382 )
2006
9
Madras motor neuron disease variant, clinical features of seven patients. ( 12686396 )
2003

Variations for Madras Motor Neuron Disease

Expression for Madras Motor Neuron Disease

Search GEO for disease gene expression data for Madras Motor Neuron Disease.

Pathways for Madras Motor Neuron Disease

GO Terms for Madras Motor Neuron Disease

Cellular components related to Madras Motor Neuron Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 8.8 SLC52A1 SLC52A2 SLC52A3

Biological processes related to Madras Motor Neuron Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral entry into host cell GO:0046718 9.16 SLC52A1 SLC52A2
2 riboflavin metabolic process GO:0006771 9.13 SLC52A1 SLC52A2 SLC52A3
3 riboflavin transport GO:0032218 8.8 SLC52A1 SLC52A2 SLC52A3

Molecular functions related to Madras Motor Neuron Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 8.96 SLC52A1 SLC52A2
2 riboflavin transmembrane transporter activity GO:0032217 8.8 SLC52A1 SLC52A2 SLC52A3

Sources for Madras Motor Neuron Disease

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
Content
Loading form....