Phenotypes for disease #02811 (MTPD (mitochondrial trifunctional protein deficiency))

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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!	Date	!2020-03	all entries not matching March, 2020
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combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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Example	Matches
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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155 entries on 2 pages. Showing entries 1 - 100.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000021245	lower limb weakness	-	-	Isolated (sporadic)	-	-	-	-	-	Xiaona Fu	00025019
0000060541	Trifunctional protein deficiency (OMIM:609015)	-	-	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00080972
0000257675	-	-	-	Unknown	-	-	-	-	-	Gemeinschaftspraxis für Humangenetik Dresden	00362264
0000345915	see paper; ...	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457451
0000345917	4m-hypoglycemia, hyperammonemia, mild liver dysfunction, 3 hydroxydicarboxylic aciduria; no cardiomyopathy, skeletal myopathy, neuropathy	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	23y	-	03y	-	-	Johan den Dunnen	00457453
0000345918	see paper; ..., myopathic, muscle pain, weakness; elevated CK, myoglobinuria; normal development	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	-	-	15y	myalgia	-	Johan den Dunnen	00457454
0000345919	see paper; ..., respiratory failure, hypotonia; liver dysfunction; delayed development	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	-	-	01y01m	lethargy, respiratory failure	-	Johan den Dunnen	00457455
0000345920	see paper; ..., 8d-deceased; cardiomyopathy, respiratory distress, hypoglycemia, hyperammonemia, metabolic acidosis, liver dysfunction	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	-	-	00y00m00d	respiratory failure	-	Johan den Dunnen	00457456
0000345921	see paper; ..., 3m-deceased; cardiomyopathy, respiratory distress; hypoglycemia, hyperammonemia	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	-	-	00y00m05d	cardiomyopathy	-	Johan den Dunnen	00457457
0000345922	see paper; ..., hepatic, coma, convulsion, developmental delay; lactic acidemia, liver dysfunction; developmental delay	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	-	-	00y09m	seizure, lactic acidosis	-	Johan den Dunnen	00457458
0000345923	see paper; ..., 35d-hypoparathyroidism; 2y-rhabdomyolysis; 3y-peripheral polyneuropathy; no hypotonia; no liver dysfunction	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	18y	-	02y	rhabdomyolysis	-	Johan den Dunnen	00457459
0000345924	see paper; ..., 4m-hypoparathyroidism; 3y-rhabdomyolysis; 3y-peripheral polyneuropathy; no hypotonia; no liver dysfunction	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	18y	-	03y	rhabdomyolysis	-	Johan den Dunnen	00457460
0000345925	see paper; ..., admitted for lethargy, hypotonia, hypomobility due to muscular pains, areflexia; mild hypoglycaemia; peripheral neuropathy, decreased sensitive nerve conduction velocity; 4m-hypoparathyroidism; 1y3m-rhabdomyolysis; 4m-peripheral polyneuropathy; hypotonia; liver dysfunction; hypoparathyroidism	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	-	00y04m	-	-	-	Johan den Dunnen	00457461
0000345926	see paper; ..., 36w-birth, weight 2600 g (25-50th), length 48.5 cm (50-75th ), OFC 33 cm (50th); 1d-chest retractions with grunting sound, severe metabolic acidosis; hypotension, oliguric renal failure	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457462
0000345931	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457467
0000345932	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457468
0000345933	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457469
0000345934	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457470
0000345935	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457471
0000345936	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457472
0000345937	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457473
0000345938	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457474
0000345939	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457475
0000345940	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457476
0000345941	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457477
0000345942	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457478
0000345943	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457479
0000345944	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457480
0000345945	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457481
0000345946	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457482
0000345947	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457483
0000345948	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457484
0000345949	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457485
0000345950	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457486
0000345951	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457487
0000345952	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457488
0000345953	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457489
0000345954	-	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457490
0000345955	see paper; ...	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457491
0000345956	see paper; ...	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457492
0000345957	see paper; ...	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457493
0000345958	see paper; ...	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457494
0000345959	see paper; ...	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457495
0000345960	see paper; ..., recurrent rhabdomyolysis; normal developmental milestones, athletic, worked as railroad conductor; ankle reflexes markedly diminished	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	53y	-	-	recurrent rhabdomyolysis	-	Johan den Dunnen	00457496
0000345961	see paper; ..., 35w-delivered by emergent cesarean section for fetal distress, required brief respiratory support; 4m-viral upper respiratory infection with vomiting, irritability, decreased oral intake, rapidly lethargic, developed coma with hypoglycemia/metabolic acidosis	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457497
0000345962	see paper; ..., 3y-deceased (fever half a day; sleepiness, diminished speech, progressive disturbance of consciousness for 1 day; respiratory weakness for 30 min); 39w+2-birth, weight 3,990 g; weakness in both lower limbs, poor swallowing function	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	03y	-	-	-	-	Johan den Dunnen	00457498
0000345963	see paper; ..., 7m-deceased (sudden death fever,diarrhea); 38w+3-birth,weight 3,070 g; autopsy upper respiratory tract infection, liver/cardiac cell fat modification	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	00y07m	-	-	-	-	Johan den Dunnen	00457499
0000345964	see paper; ...	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457500
0000345965	see paper; ...	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457501
0000345966	see paper; ...	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457502
0000345967	see paper; ..., diarrhea, irritability, anorexia, poor reactions	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457503
0000345968	see paper; ..., early milestones slightly delayed; 14m-recurrent afebrile convulsion, limbs/trunk hypotonia	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	01y09m	-	-	-	-	Johan den Dunnen	00457504
0000345969	late-onset neuromyopathic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457505
0000345970	severe neonatal form; abnormalities third trimester pregnancy ; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457506
0000345971	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457507
0000345972	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457508
0000345973	severe neonatal form; abnormalities third trimester pregnancy ; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457509
0000345974	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457510
0000345975	late-onset neuromyopathic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457511
0000345976	late-onset neuromyopathic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457512
0000345977	late-onset neuromyopathic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457513
0000345978	late-onset neuromyopathic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457514
0000345979	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457515
0000345980	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457516
0000345981	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457517
0000345982	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457518
0000345983	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457519
0000345984	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457520
0000345985	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457521
0000345986	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457522
0000345987	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457523
0000345988	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457524
0000345989	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457525
0000345990	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457526
0000345991	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457527
0000345992	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457528
0000345993	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457529
0000345994	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457530
0000345995	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457531
0000345996	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457532
0000345997	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457533
0000345998	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457534
0000345999	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457535
0000346000	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457536
0000346001	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457537
0000346002	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457538
0000346003	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457539
0000346004	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457540
0000346005	severe neonatal form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457541
0000346006	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457542
0000346007	severe neonatal form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457543
0000346008	infantile hepatic form; abnormalities third trimester pregnancy ; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457544
0000346009	severe neonatal form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457545
0000346010	infantile hepatic form; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457546
0000346011	severe neonatal form; abnormalities third trimester pregnancy ; died	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457547
0000346012	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457548
0000346013	infantile hepatic form; alive	mitochondrial trifunctional protein deficiency	MTPD1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457549
0000346014	severe neonatal form; died	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457550
0000346015	severe neonatal form; died	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457551
0000346016	severe neonatal form; abnormalities third trimester pregnancy ; died	mitochondrial trifunctional protein deficiency	MTPD2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00457552

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Global Variome shared LOVD

NPC1 (Niemann-Pick disease, type C1)