MCID: MLT068
MIFTS: 25

Multiple Mitochondrial Dysfunctions Syndrome 1

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

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 1

MalaCards integrated aliases for Multiple Mitochondrial Dysfunctions Syndrome 1:

Name: Multiple Mitochondrial Dysfunctions Syndrome 1 53 12 71 28 13 14 69
Mmds1 53 71
Mmds 53 71
Multiple Mitochondrial Dysfunctions Syndrome Type 1 55
Nfu1 Deficiency 55

Characteristics:

Orphanet epidemiological data:

55
multiple mitochondrial dysfunctions syndrome type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset soon after birth
death by age 15 months


HPO:

31
multiple mitochondrial dysfunctions syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Multiple Mitochondrial Dysfunctions Syndrome 1

UniProtKB/Swiss-Prot : 71 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 muscle weakness, lethargy and failure to thrive. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 1 is NFU1 (NFU1 Iron-Sulfur Cluster Scaffold). Affiliated tissues include brain.

OMIM : 53 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

Diseases in the Multiple Mitochondrial Dysfunctions Syndrome family:

Multiple Mitochondrial Dysfunctions Syndrome 1 Multiple Mitochondrial Dysfunctions Syndrome 3
Multiple Mitochondrial Dysfunctions Syndrome 4 Multiple Mitochondrial Dysfunctions Syndrome 5
Multiple Mitochondrial Dysfunctions Syndrome 2

Diseases related to Multiple Mitochondrial Dysfunctions Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 multiple mitochondrial dysfunctions syndrome 11.5
2 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 10.9
3 multiple mitochondrial dysfunctions syndrome 5 10.9

Symptoms & Phenotypes for Multiple Mitochondrial Dysfunctions Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
lethargy
astrogliosis
psychomotor retardation
decreasing responsiveness
neurologic regression
more
Growth Other:
failure to thrive

Metabolic Features:
lactic acidosis

Cardiovascular Vascular:
pulmonary hypertension
obstructive vasculopathy

Muscle Soft Tissue:
weakness

Abdomen Gastroin testinal:
feeding difficulties

Respiratory:
respiratory failure

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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 lethargy 31 HP:0001254
3 failure to thrive 31 HP:0001508
4 global developmental delay 31 HP:0001263
5 pulmonary arterial hypertension 31 HP:0002092
6 feeding difficulties 31 HP:0011968
7 lactic acidosis 31 HP:0003128
8 respiratory failure 31 HP:0002878
9 decreased activity of mitochondrial respiratory chain 31 HP:0008972

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 28 NFU1

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 1

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

38
Brain

Publications for Multiple Mitochondrial Dysfunctions Syndrome 1

Articles related to Multiple Mitochondrial Dysfunctions Syndrome 1:

# Title Authors Year
1
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
2
Understanding the Molecular Basis for Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1): Impact of a Disease-Causing Gly189Arg Substitution on NFU1. ( 28906594 )
2017

Variations for Multiple Mitochondrial Dysfunctions Syndrome 1

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

71
# 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
# 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

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
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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