MCID: MLT068
MIFTS: 26

Multiple Mitochondrial Dysfunctions Syndrome 1

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 1

MalaCards integrated aliases for Multiple Mitochondrial Dysfunctions Syndrome 1:

Name: Multiple Mitochondrial Dysfunctions Syndrome 1 57 12 75 29 13 6 15 73
Mmds1 57 75
Mmds 57 75
Mitochondrial Dysfunctions Syndrome, Multiple, Type 1 40
Multiple Mitochondrial Dysfunctions Syndrome Type 1 59
Nfu1 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
multiple mitochondrial dysfunctions syndrome type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset soon after birth
death by age 15 months


HPO:

32
multiple mitochondrial dysfunctions syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Multiple Mitochondrial Dysfunctions Syndrome 1

UniProtKB/Swiss-Prot : 75 Multiple mitochondrial dysfunctions syndrome 1: A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2- oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.

MalaCards based summary : Multiple Mitochondrial Dysfunctions Syndrome 1, also known as mmds1, is related to multiple mitochondrial dysfunctions syndrome and multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, and has symptoms including lethargy and weakness. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 1 is NFU1 (NFU1 Iron-Sulfur Cluster Scaffold). Affiliated tissues include brain, and related phenotypes are lethargy and global developmental delay

OMIM : 57 Multiple mitochondrial dysfunctions syndrome is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (summary by Seyda et al., 2001). (605711)

Related Diseases for Multiple Mitochondrial Dysfunctions Syndrome 1

Graphical network of the top 20 diseases related to Multiple Mitochondrial Dysfunctions Syndrome 1:



Diseases related to Multiple Mitochondrial Dysfunctions Syndrome 1

Symptoms & Phenotypes for Multiple Mitochondrial Dysfunctions Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Metabolic Features:
lactic acidosis

Neurologic Central Nervous System:
lethargy
astrogliosis
psychomotor retardation
decreasing responsiveness
neurologic regression
more
Muscle Soft Tissue:
weakness

Abdomen Gastrointestinal:
feeding difficulties

Respiratory:
respiratory failure

Cardiovascular Vascular:
pulmonary hypertension
obstructive vasculopathy

Laboratory Abnormalities:
increased serum and urinary lactate
increased urinary 2-hydroxybutyrate
increased serum glycine, leucine, isoleucine, valine
decreased activity of pyruvate dehydrogenase complex
decreased activity of 2-oxoacid dehydrogenases
more

Clinical features from OMIM:

605711

Human phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 1:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 lethargy 32 HP:0001254
2 global developmental delay 32 HP:0001263
3 muscle weakness 32 HP:0001324
4 failure to thrive 32 HP:0001508
5 pulmonary arterial hypertension 32 HP:0002092
6 respiratory failure 32 HP:0002878
7 lactic acidosis 32 HP:0003128
8 decreased activity of mitochondrial respiratory chain 32 HP:0008972
9 feeding difficulties 32 HP:0011968

UMLS symptoms related to Multiple Mitochondrial Dysfunctions Syndrome 1:


lethargy, weakness

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 1

Search Clinical Trials , NIH Clinical Center for Multiple Mitochondrial Dysfunctions Syndrome 1

Genetic Tests for Multiple Mitochondrial Dysfunctions Syndrome 1

Genetic tests related to Multiple Mitochondrial Dysfunctions Syndrome 1:

# Genetic test Affiliating Genes
1 Multiple Mitochondrial Dysfunctions Syndrome 1 29 NFU1

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 1

MalaCards organs/tissues related to Multiple Mitochondrial Dysfunctions Syndrome 1:

41
Brain

Publications for Multiple Mitochondrial Dysfunctions Syndrome 1

Articles related to Multiple Mitochondrial Dysfunctions Syndrome 1:

# Title Authors Year
1
Understanding the Molecular Basis for Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1): Impact of a Disease-Causing Gly189Arg Substitution on NFU1. ( 28906594 )
2017
2
Understanding the Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1)-Impact of a Disease-Causing Gly208Cys Substitution on Structure and Activity of NFU1 in the Fe/S Cluster Biosynthetic Pathway. ( 28161430 )
2017

Variations for Multiple Mitochondrial Dysfunctions Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 NFU1 p.Gly208Cys VAR_066639 rs374514431
2 NFU1 p.Arg21Pro VAR_079757 rs776875884
3 NFU1 p.Arg182Trp VAR_079758
4 NFU1 p.Gly189Arg VAR_079759

ClinVar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 1:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 NFU1 NFU1, 545G-A single nucleotide variant Pathogenic
2 NFU1 NM_001002755.2(NFU1): c.622G> T (p.Gly208Cys) single nucleotide variant Pathogenic rs374514431 GRCh37 Chromosome 2, 69627594: 69627594
3 NFU1 NM_001002755.2(NFU1): c.622G> T (p.Gly208Cys) single nucleotide variant Pathogenic rs374514431 GRCh38 Chromosome 2, 69400462: 69400462
4 NFU1 NM_001002755.2(NFU1): c.151G> T (p.Ala51Ser) single nucleotide variant Benign/Likely benign rs76646410 GRCh38 Chromosome 2, 69431917: 69431917
5 NFU1 NM_001002755.2(NFU1): c.151G> T (p.Ala51Ser) single nucleotide variant Benign/Likely benign rs76646410 GRCh37 Chromosome 2, 69659049: 69659049
6 NFU1 NM_001002755.2(NFU1): c.545+5G> A single nucleotide variant Pathogenic rs756085990 GRCh37 Chromosome 2, 69633149: 69633149
7 NFU1 NM_001002755.2(NFU1): c.545+5G> A single nucleotide variant Pathogenic rs756085990 GRCh38 Chromosome 2, 69406017: 69406017
8 NFU1 NM_001002755.2(NFU1): c.544C> T (p.Arg182Trp) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 69633155: 69633155
9 NFU1 NM_001002755.2(NFU1): c.544C> T (p.Arg182Trp) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 69406023: 69406023
10 NFU1 NM_001002755.2(NFU1): c.545+9T> C single nucleotide variant Likely benign rs767405381 GRCh37 Chromosome 2, 69633145: 69633145
11 NFU1 NM_001002755.2(NFU1): c.545+9T> C single nucleotide variant Likely benign rs767405381 GRCh38 Chromosome 2, 69406013: 69406013

Expression for Multiple Mitochondrial Dysfunctions Syndrome 1

Search GEO for disease gene expression data for Multiple Mitochondrial Dysfunctions Syndrome 1.

Pathways for Multiple Mitochondrial Dysfunctions Syndrome 1

GO Terms for Multiple Mitochondrial Dysfunctions Syndrome 1

Sources for Multiple Mitochondrial Dysfunctions Syndrome 1

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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