MCID: MLT068
MIFTS: 28

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 54 12 24 71 29 13 14 69
Mmds1 24 71
Fatal Multiple Mitochondrial Dysfunctions Syndrome Type 1 56
Nfu1 Deficiency 56
Mmds 71

Characteristics:

Orphanet epidemiological data:

56
fatal multiple mitochondrial dysfunctions syndrome type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
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 : 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 2 with hyperglycinemia and multiple mitochondrial dysfunctions syndrome 5, and has symptoms including failure to thrive, lethargy and global developmental delay. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 1 is NFU1 (NFU1 Iron-Sulfur Cluster Scaffold). The drugs Hypoglycemic Agents and insulin have been mentioned in the context of this disorder. Affiliated tissues include brain.

OMIM : 54
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 3 Multiple Mitochondrial Dysfunctions Syndrome 1
Multiple Mitochondrial Dysfunctions Syndrome 5 Multiple Mitochondrial Dysfunctions Syndrome 4
Multiple Mitochondrial Dysfunctions Syndrome 2

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

id Related Disease Score Top Affiliating Genes
1 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 10.8
2 multiple mitochondrial dysfunctions syndrome 5 10.8
3 multiple mitochondrial dysfunctions syndrome 9.9

Symptoms & Phenotypes for Multiple Mitochondrial Dysfunctions Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Metabolic Features:
lactic acidosis

Cardiovascular- Vascular:
pulmonary hypertension
obstructive vasculopathy

Abdomen- Gastroin testinal:
feeding difficulties

Neurologic- Central Nervous System:
lethargy
psychomotor retardation
decreasing responsiveness
neurologic regression
white matter lesions seen on brain imaging
more
Respiratory:
respiratory failure

Muscle Soft Tissue:
weakness

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

UMLS symptoms related to Multiple Mitochondrial Dysfunctions Syndrome 1:


lethargy, weakness

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 1

Drugs for Multiple Mitochondrial Dysfunctions Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hypoglycemic Agents
2 insulin
3 Insulin, Globin Zinc

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of Dapagliflozin on Mitochondrial Dysfunction and Impaired Insulin Signaling/Action Recruiting NCT01439854 Dapagliflozin;Placebo

Search 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:

id Genetic test Affiliating Genes
1 Multiple Mitochondrial Dysfunctions Syndrome 1 29 24 NFU1

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 1

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

39
Brain

Publications for Multiple Mitochondrial Dysfunctions Syndrome 1

Articles related to Multiple Mitochondrial Dysfunctions Syndrome 1:

id 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:

71
id Symbol AA change Variation ID SNP ID
1 NFU1 p.Gly208Cys VAR_066639 rs374514431

ClinVar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 1:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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