MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1

General Information (adopted from Orphanet):

Synonyms, Signs: MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE
Number of Symptoms 22
OrphanetNr:
OMIM Id: 604273
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000047) Hypospadias 250 / 7739
3
(HPO:0000426) Prominent nasal bridge 121 / 7739
4
(HPO:0000252) Microcephaly 832 / 7739
5
(HPO:0000278) Retrognathia 100 / 7739
6
(HPO:0000369) Low-set ears 372 / 7739
7
(HPO:0001263) Global developmental delay 853 / 7739
8
(HPO:0001251) Ataxia 413 / 7739
9
(HPO:0002240) Hepatomegaly 467 / 7739
10
(HPO:0004322) Short stature 1232 / 7739
11
(HPO:0001508) Failure to thrive 454 / 7739
12
(HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
13
(HPO:0001987) Hyperammonemia 50 / 7739
14
(HPO:0003128) Lactic acidosis 116 / 7739
15
(HPO:0002151) Increased serum lactate 92 / 7739
16
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
17
(HPO:0001252) Muscular hypotonia 990 / 7739
18
(HPO:0001324) Muscle weakness 859 / 7739
19
(HPO:0010547) Muscle flaccidity 466 / 7739
20
(OMIM) ATP synthase deficiency 1 / 7739
21
(OMIM) Decreased ATP synthase in muscle, heart, liver, and brain 1 / 7739
22
(OMIM) Intermittent 3-methylglutaconic aciduria 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease ...
Clinical Description OMIM Houstek et al. (1999) reported a male patient with ATPase deficiency who was born of healthy first-cousin parents. He was born at term with oligohydramnios, birth weight less than the 5th percentile, and length of 45 cm. Dysmorphic ...
Molecular genetics OMIM In a female infant with decreased complex V activity, De Meirleir et al. (2004) identified homozygosity for a missense mutation in the ATPAF2 gene (W94R; 608918.0001). The consanguineous Moroccan parents and a healthy sib were heterozygous for the ...