Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: MTDPS13
mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Number of Symptoms 61
OrphanetNr: 369897
OMIM Id: 615471
ICD-10: E88.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mitochondrial DNA depletion syndrome, encephalomyopathic form
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare gastroenterologic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias 250 / 7739
2
 (HPO:0001947) Renal tubular acidosis rare [HPO:skoehler] 21 / 7739
3
 (HPO:0001357) Plagiocephaly rare [HPO:skoehler] 106 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
5
 (HPO:0000286) Epicanthus 371 / 7739
6
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
7
 (HPO:0000275) Narrow face 76 / 7739
8
 (HPO:0000574) Thick eyebrow 96 / 7739
9
 (HPO:0011120) Concave nasal ridge 9 / 7739
10
 (HPO:0000252) Microcephaly 832 / 7739
11
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
12
 (HPO:0010697) Anterior pyramidal cataract 22 / 7739
13
 (HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
14
 (HPO:0000377) Abnormality of the pinna 111 / 7739
15
 (HPO:0000411) Protruding ear 140 / 7739
16
 (HPO:0001332) Dystonia rare [HPO:skoehler] 197 / 7739
17
 (HPO:0001263) Global developmental delay 853 / 7739
18
 (HPO:0002311) Incoordination 84 / 7739
19
 (HPO:0002015) Dysphagia 301 / 7739
20
 (HPO:0002066) Gait ataxia 327 / 7739
21
 (HPO:0001298) Encephalopathy 72 / 7739
22
 (HPO:0001266) Choreoathetosis rare [HPO:skoehler] 57 / 7739
23
 (HPO:0001250) Seizures 1245 / 7739
24
 (HPO:0001251) Ataxia rare [HPO:skoehler] 413 / 7739
25
 (HPO:0011344) Severe global developmental delay 46 / 7739
26
 (HPO:0001786) Narrow foot 11 / 7739
27
 (HPO:0001773) Short foot rare [HPO:skoehler] 86 / 7739
28
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
29
 (HPO:0002910) Elevated hepatic transaminases rare [HPO:skoehler] 158 / 7739
30
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
31
 (HPO:0001508) Failure to thrive 454 / 7739
32
 (HPO:0001518) Small for gestational age 107 / 7739
33
 (HPO:0001510) Growth delay 295 / 7739
34
 (HPO:0011675) Arrhythmia rare [HPO:skoehler] 226 / 7739
35
 (HPO:0001639) Hypertrophic cardiomyopathy rare [HPO:skoehler] 137 / 7739
36
 (HPO:0001875) Neutropenia rare [HPO:skoehler] 83 / 7739
37
 (HPO:0003128) Lactic acidosis 116 / 7739
38
 (HPO:0200125) Mitochondrial respiratory chain defects 6 / 7739
39
 (HPO:0003348) Hyperalaninemia 19 / 7739
40
 (HPO:0002151) Increased serum lactate 92 / 7739
41
 (HPO:0002719) Recurrent infections rare [HPO:skoehler] 107 / 7739
42
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
43
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
44
 (HPO:0001252) Muscular hypotonia 990 / 7739
45
 (HPO:0001324) Muscle weakness 859 / 7739
46
 (HPO:0010547) Muscle flaccidity 466 / 7739
47
 (OMIM) Elongated face 4 / 7739
48
 (HPO:0002415) Leukodystrophy 30 / 7739
49
 (OMIM) Dysmorphic facial features, variable (in some patients) 1 / 7739
50
 (HPO:0002059) Cerebral atrophy 171 / 7739
51
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
52
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
53
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
54
 (HPO:0003812) Phenotypic variability 129 / 7739
55
 (OMIM) White matter lesions in the basal ganglia 1 / 7739
56
 (OMIM) Fragmentation of the mitochondrial network 1 / 7739
57
 (OMIM) Depletion of mtDNA (skeletal muscle, fibroblasts) 1 / 7739
58
 (HPO:0012448) Delayed myelination 51 / 7739
59
 (OMIM) Increased serum ammonia 5 / 7739
60
 (OMIM) Brainstem white matter lesions 1 / 7739
61
 (HPO:0001272) Cerebellar atrophy rare [HPO:skoehler] 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mitochondrial DNA depletion syndrome-13 is an autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA ...
Clinical Description OMIM Bonnen et al. (2013) reported 3 unrelated consanguineous Arabian families segregating a severe mitochondrial encephalomyopathy. In the first family, 5 infants presented at birth or in the first months of life with global developmental delay, hypotonia, and persistent ...
Molecular genetics OMIM In affected individuals from 3 consanguineous Arabian families with MTDPS13, Bonnen et al. (2013) identified 3 different homozygous mutations in the FBXL4 gene (see, e.g., 605654.0001 and 605654.0002). The mutations, which were found by whole-exome sequencing in the ...