U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mitochondrial complex 1 deficiency, nuclear type 30(MC1DN30)

MedGen UID:
1648313
Concept ID:
C4746985
Disease or Syndrome
Synonym: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30
 
Gene (location): NDUFB11 (Xp11.3)
 
Monarch Initiative: MONDO:0026721
OMIM®: 301021

Clinical features

From HPO
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Redundant skin
MedGen UID:
154379
Concept ID:
C0581342
Pathologic Function
Loose and sagging skin often associated with loss of skin elasticity.
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
Decreased activity of mitochondrial complex I
MedGen UID:
393796
Concept ID:
C2677650
Finding
A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.

Recent clinical studies

Etiology

Hipps D, Dobson PF, Warren C, McDonald D, Fuller A, Filby A, Bulmer D, Laude A, Russell O, Deehan DJ, Turnbull DM, Lawless C
Bone 2022 May;158:116371. Epub 2022 Feb 19 doi: 10.1016/j.bone.2022.116371. PMID: 35192969
Ritov VB, Menshikova EV, Azuma K, Wood R, Toledo FG, Goodpaster BH, Ruderman NB, Kelley DE
Am J Physiol Endocrinol Metab 2010 Jan;298(1):E49-58. Epub 2009 Nov 3 doi: 10.1152/ajpendo.00317.2009. PMID: 19887598Free PMC Article
Zeviani M, Corona P, Nijtmans L, Tiranti V
Ital J Neurol Sci 1999 Dec;20(6):401-8. doi: 10.1007/s100720050059. PMID: 10937860

Diagnosis

Hipps D, Dobson PF, Warren C, McDonald D, Fuller A, Filby A, Bulmer D, Laude A, Russell O, Deehan DJ, Turnbull DM, Lawless C
Bone 2022 May;158:116371. Epub 2022 Feb 19 doi: 10.1016/j.bone.2022.116371. PMID: 35192969

Clinical prediction guides

Hipps D, Dobson PF, Warren C, McDonald D, Fuller A, Filby A, Bulmer D, Laude A, Russell O, Deehan DJ, Turnbull DM, Lawless C
Bone 2022 May;158:116371. Epub 2022 Feb 19 doi: 10.1016/j.bone.2022.116371. PMID: 35192969
von Kleist-Retzow JC, Cormier-Daire V, de Lonlay P, Parfait B, Chretien D, Rustin P, Feingold J, Rötig A, Munnich A
Am J Hum Genet 1998 Aug;63(2):428-35. doi: 10.1086/301957. PMID: 9683589Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...