Phenotypes for disease #01499 (Andersen syndrome, OMIM:170390)

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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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110 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
0000154480	LQT, bilateral VT	-	-	-	-	-	-	-	-	Ikuko Takeda	00206609
0000154481	small chin, prominent U waves and bigeminy, hypokalemia, symptoms disappeared 24h later. Decreasement of the amplitude of th CMAP following long execise test.	-	-	Familial, autosomal dominant	-	19y	15y	steroid induced hypokalemic paralysis	-	Ikuko Takeda	00206610
0000154482	Valvular pulmonary stenosis, cardiac arrest, polymorphiventricular tachycardia	-	-	Familial, autosomal dominant	-	13y	11y	polymorphic ventricualr tachycardia	-	Ikuko Takeda	00206611
0000154483	PVC, bigeminy, bidirectional VT, prolonged Quc	-	-	Familial, autosomal dominant	-	-	-	-	-	Ikuko Takeda	00206612
0000154484	hypokalemic, bigeminy, polymorphic and bidirectional VT, Micrognathia, slight scoliosis, broad-base nose, low-set ears	-	-	Isolated (sporadic)	-	-	-	-	-	Ikuko Takeda	00206613
0000154485	bigeminy, polymorphic VT, low-set ears, retrognathia. muscle biopsy: tubular aggregates.	-	-	-	-	-	-	-	-	Ikuko Takeda	00206614
0000154486	hypokalemia, LQT, painful paralysis. muscle biopsy: tubular aggregates.	-	-	Isolated (sporadic)	-	25y	9y	focal peisodic weakness	-	Ikuko Takeda	00206615
0000154487	hypokalemia. muscle biopsy: myopathic.	-	-	Familial, autosomal dominant	-	-	13y	periodic paralysis	-	Ikuko Takeda	00206616
0000154488	Asymptomatic/polymorphic PVCs, non-specific inferior and lateral T-wave changes	-	-	-	-	15y	-	-	-	Ikuko Takeda	00206618
0000154489	PVC, couplet, bidirectional VT	-	-	Familial	-	-	-	-	-	Ikuko Takeda	00206619
0000154490	LQT, elevated CK,	-	-	Familial, autosomal dominant	-	-	6y	-	-	Ikuko Takeda	00206620
0000154491	hypokalemic, low-set asymmetrical ears, micrognathia, broad-base nose, hypertelorism, syndactyly of second and third toes, short toes on right foot, LQT, bigeminy, polymorphic VT	-	-	Isolated (sporadic)	-	-	-	-	-	Ikuko Takeda	00206621
0000154492	bilateral syndactyly of toes 2-3, premature ventricular complexes, bigeminy, prominent U waves	-	-	-	-	28y	-	-	-	Ikuko Takeda	00206622
0000154493	LQT	-	-	Familial, autosomal dominant	-	-	-	-	-	Ikuko Takeda	00206623
0000154494	complex ventricular ectopy	-	-	Familial, autosomal dominant	-	-	10y	periodic paralysis	-	Ikuko Takeda	00206624
0000154495	primary hypothyroidism, ventricular ectopy, LQT, hypermobility of hip joint, U wave, normakalemia	-	-	Familial, autosomal dominant	-	-	11y	periodic paralysis	-	Ikuko Takeda	00206625
0000154496	broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, PVC, VT	-	-	-	-	15y	5y	periodic paralysis	-	Ikuko Takeda	00206626
0000154497	Clinodactyly, micrognathia, low-set ears, hypertelorism, short stature, normokalemic, bigeminy, bidirectional VT, LQT. muscle biopsy: tubular aggregates.	-	-	Isolated (sporadic)	-	-	-	-	-	Ikuko Takeda	00206627
0000154498	clinodactyly, scoliosis, high arched palate, asymmetrically placed lower mandible, mild varus position, PVC, normokalemia, prominent U wave, non-sustained VT, RBBB	-	-	Familial, autosomal dominant	-	15y	10y	episodic weakness and cardiac rhythm irregularities	-	Ikuko Takeda	00206628
0000154499	syncope, normokalemia, Short stature (1.4m), LQT, bidirectional VT	-	-	Familial, autosomal dominant	-	35y	-	syncope	-	Ikuko Takeda	00206629
0000154500	sncope/PVCs, bigeminy	-	-	-	-	14y	-	-	-	Ikuko Takeda	00206630
0000154501	ventricular	-	-	-	-	-	7y	Cardiac onset	-	Ikuko Takeda	00206631
0000154502	broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, PVC, U wave. muscle biopsy: tubular aggregates.	-	-	Familial, autosomal dominant	-	34y	4y	periodic paralysis	-	Ikuko Takeda	00206632
0000154503	painful paralysis, hypokalemia. muscle biopsy: vacuolar myopathy.	-	-	-	-	-	8y	periodic paralysis	-	Ikuko Takeda	00206633
0000154504	Irregular heart rhythm and palpitations, prominent U wave, frequent premature ventricular beats, short runs of VT	-	-	-	-	6y	-	-	-	Ikuko Takeda	00206634
0000154505	Ventricular ectopy, asymptomatic, bidirectional ventricular tachycardia, polymorphic ventricular tachycardia	-	-	-	-	-	-	-	-	Ikuko Takeda	00206635
0000154506	Ventricular ectopy	-	-	-	-	-	-	-	-	Ikuko Takeda	00206636
0000154507	PVC, bidirectal VT,	-	-	-	-	-	-	-	-	Ikuko Takeda	00206637
0000154508	bidirectional VT	-	-	-	-	-	-	-	-	Ikuko Takeda	00206638
0000154509	hypokalemia	-	-	Familial, autosomal dominant	-	-	15y	periodic paralysis	-	Ikuko Takeda	00206639
0000154510	bidirectal VT, long QT	-	-	-	-	-	-	-	-	Ikuko Takeda	00206640
0000154512	Electrocardiogram showed enlarged U-waves, wide T–U junction, prolonged QUc interval; periodic paralysis, dysmorphological features comprised short stature, low-set ears, hypertelorism, small mandible, high arched palate, dental anomalies, broad nasal root, fifth-digit clinodactyly	-	-	Familial, autosomal recessive	-	62y	6y	-	-	Ikuko Takeda	00206642
0000154513	LQT, bigeminy, polymorphic VT, nonsustain VT, normokalemia, prolonged T wave, prominent U wave,	-	-	-	-	-	12y	-	-	Ikuko Takeda	00206643
0000154514	bidirectional VT, ICD	-	-	-	-	-	13y	irregular heart rate	-	Ikuko Takeda	00206644
0000154515	Prolong of T wave, prominent U wave, nonsustained VT, hypokalemia, micrognathia, hypertelorism	-	-	-	-	-	-	-	-	Ikuko Takeda	00206645
0000154516	CK elevated, muxcle weakness	-	-	-	-	-	18y	periodic paralysis	-	Ikuko Takeda	00206646
0000154517	LQT, Bigeminy	-	-	-	-	-	-	-	-	Ikuko Takeda	00206647
0000154518	LQT, Bidirectal VT,	-	-	Isolated (sporadic)	-	-	-	-	-	Ikuko Takeda	00206648
0000154519	PVC, bidirectional VT, polymorphic VT, LQT, prolonged Quc	-	-	Familial, autosomal dominant	-	12y	12y	absorbed sudden death	-	Ikuko Takeda	00206649
0000154520	catecholaminergic polymorhpic VT	-	-	-	-	-	-	-	-	Ikuko Takeda	00206650
0000154521	ocular hypertelorism, low-set ear, small mandibled, clinodacytly of the fifth finger, normokalemia, bigeminy, nonsustained VT,	-	-	Isolated (sporadic)	-	-	7y	periodic paralysis	-	Ikuko Takeda	00206651
0000154522	scoliosis, ventricular arrhythmia, proximal muscle weakness, hyporeflexia,	-	-	Familial, autosomal dominant	-	9y	-	-	-	Ikuko Takeda	00206652
0000154523	PVC, bigeminy, bidirectional VT, polymorphic VT	-	-	Isolated (sporadic)	-	-	-	-	-	Ikuko Takeda	00206653
0000154524	broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, chin hypoplasia, bigeminy. muscle biopsy: normal.	-	-	Familial, autosomal dominant	-	27y	1y	periodic paralysis	-	Ikuko Takeda	00206654
0000154525	scoliosis, short stature, low-set ears, micrognathia	-	-	Familial, autosomal dominant	-	-	-	-	-	Ikuko Takeda	00206655
0000154526	low set ear, micrognathia, oligodontia, bilateral clinodactyly of the third and fourth fingers, hypokalemia, prominent U wave	-	-	Isolated (sporadic)	-	18y	11y	periodic paralysis	-	Ikuko Takeda	00206656
0000154527	cleft palate, short stature, distinctive craniofacial dysmorphism, broad forehead, mild facial asymmetry, downslanting palpebral fissures, thin upper lip, long nose, dental anomalies, high arch palate, proximal weakness of lower limbs, hypokalemic, U wave	-	-	Familial, autosomal dominant	-	31y	20y	painful cramps	-	Ikuko Takeda	00206657
0000154528	short stature( height 1.58 m), high broad, prominent forehead, bone malformation (including acnormal radial curbature of the fif digits and non-deviated short toes). hypokalemia, premature beat, Dcreasement of CMAP amplitude in following long exercise. Deltoid muscle biopsy was normal.	-	-	-	-	27y	14y	periodic paralysis	-	Ikuko Takeda	00206658
0000154529	bigeminal rhythm, LQT, U wave,	-	-	Familial, autosomal dominant	-	-	37y	presyncopal spell	-	Ikuko Takeda	00206659
0000154531	polymorpihc VT, normokalemia, hyperkalemia, hypertelorism, clinodactyly, prominent U wave, nosustained VT, RBBB	-	-	Familial	-	-	-	-	-	Ikuko Takeda	00206661
0000154532	hypokalemic, bigeminy, PVC, prominent U wave, scoliosis, high-arched palate, micrognathia, broad-base nose, hypertelorism, low-set ears retrognathia	-	-	Familial, autosomal dominant	-	-	-	-	-	Ikuko Takeda	00206662
0000154533	normokalemia, premature ventricular contractions, LQT, seizure. muscle biopsy: tubular aggregates.	-	-	Familial, autosomal dominant	-	13y	3y	periodic paralysis, seizure	-	Ikuko Takeda	00206663
0000154534	PVC, bigeminy, LQT, seizure,	-	-	Familial, autosomal dominant	-	-	-	-	-	Ikuko Takeda	00206664
0000154535	PVC, nonsustained ventricular tachycardia, palpitations, normokalemia, low-set ears, micrognathia, tapering fingers. endomyocardial biopsy: normal.	-	-	-	-	13y	13y	periodic paralysis	-	Ikuko Takeda	00206665
0000154536	normokalemia, short stature, low-set ear, hypoplasitc mandible, hypertelosrism, clinodactyly of fifth fingers, submucous cleft palate, bifid uvula, RBBB, LQT, prominent U wave,bidirectional ventricular tachycardia, polymorphic ventricular tachycardia, ASD	-	-	-	-	19y	10y	periodic paralysis	-	Ikuko Takeda	00206666
0000154537	short stature,broad forehead,ocular hypertelorism,small head size,low-set ears, mandibular hypoplasia, clinodactyly of the fifth fingers and toes, quadriparesis with proximal muscle group, hyperreflexia, Babinski's sign,hypokalemia,bigeminy,LQT,depression	-	-	Familial, autosomal dominant	-	-	27y	four-limb weakness	-	Ikuko Takeda	00206667
0000154538	cardiac arrest, ventricular fibrillation, short stature, scolliosis, broad forehead, low-set ears, mandibular micrognathia, clinodadtyly, hyperkalemia,LQT, long Quc interval, U wave, polymorphic ventricular tachycardia. muscle biopsy: tubular aggregates.	-	-	-	-	34y	8y	periodic paralysis	-	Ikuko Takeda	00206668
0000154539	PVC, bigeminy, polymorphic VT, VF, sudden death, ICD, prolonged Quc, high T&U wave	-	-	-	-	-	-	-	-	Ikuko Takeda	00206669
0000154540	hypertelorism, low-set ear, small mandible, normokalemia, dizziness	-	-	Familial, autosomal dominant	-	-	3y	periodic paralysis	-	Ikuko Takeda	00206670
0000154541	LQT, bidirectional VT, cardiac arrest	-	-	-	-	-	4y	-	-	Ikuko Takeda	00206671
0000154542	normokalemia, supraventricular tachycardia	-	-	-	-	-	5y	periodic paralysis,	-	Ikuko Takeda	00206672
0000154543	broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, U-wave, VT, PVC	-	-	Familial, autosomal dominant	-	8y	4y	periodic paralysis	-	Ikuko Takeda	00206673
0000154544	broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, LQT,U wave, PVC	-	-	Isolated (sporadic)	-	14y	8y	periodic paralysis	-	Ikuko Takeda	00206674
0000154545	polymorphic VT, bigeminy	-	-	Isolated (sporadic)	-	-	2y	-	-	Ikuko Takeda	00206675
0000154546	Bigeminy, non-fatal cardiac arrest, torsades, first-degree A-V block, LQT	-	-	-	-	-	10y	-	-	Ikuko Takeda	00206676
0000154547	LQT, bigeminy, polymorphic VT	-	-	Isolated (sporadic)	-	-	7y	-	-	Ikuko Takeda	00206677
0000154548	bigeminy，LQT	-	-	-	-	-	-	-	-	Ikuko Takeda	00206678
0000154549	hypokalemic, bidirectional VT, polymorphic PVC, prominent U wave, micrognathia, scoliosis, clinodactyly. muscle biopsy: tubular aggregates.	-	-	Familial, autosomal dominant	-	-	-	-	-	Ikuko Takeda	00206679
0000154550	ventricular, abnormal dentition, painful paralysis, mild ataxia. her brothers' muscle biopsies: myopathic, vacuolar myopathy.	-	-	Familial, autosomal dominant	-	-	9y	cardiac onset	-	Ikuko Takeda	00206680
0000154551	painful paralysis. muscle biopsy: myopathic.	-	-	Familial, autosomal dominant	-	-	24y	periodic paralysis	-	Ikuko Takeda	00206681
0000154552	PVC, bigeminy, couplet, bidirectional VT, monomorphic VT, syncope, seizure, LQT, prominent U wave	-	-	Familial, autosomal dominant	-	-	-	-	-	Ikuko Takeda	00206682
0000154553	bigeminy, couplet, bidirectional VT, monomorphic VT, prolonged Quc, prominent U wave	-	-	Familial, autosomal dominant	-	-	-	-	-	Ikuko Takeda	00206683
0000154554	PVC, couplet, bidirectional VT, prominent U wave	-	-	Isolated (sporadic)	-	-	-	-	-	Ikuko Takeda	00206684
0000154555	hypokalemia, short stature, small with short fifth fingers, bilateral clinodactyly, neurocardiogenic syncope	-	-	-	-	34y	15y	syncope	-	Ikuko Takeda	00206685
0000154556	cardiac arrest, PVC, ventricular fibrillation, facial asymmetry, clinodactyly of fifth finger, cutaneous syndactyly, RBBB, polymorphic VT, prominent U wave. myocardia biopsy: hypertrophic myocytes with large irregularly shaped hypochromic nuclei, focal interstitial fibrosis.	-	-	Familial, autosomal dominant	-	18y	-	PVC	-	Ikuko Takeda	00206686
0000154557	ventricular ectopy, nonsustain VT, RBBB, prominent U wave, pregnancy	-	-	-	-	-	-	-	-	Ikuko Takeda	00206687
0000154558	obesity, increased cervical perimeter, weakness of proximal limb muscle, micrognathia, retrognathia, clinodactyly of foruth and fifth fingers, short stateure, arched palate, thoracic scoliosis, normokalemia, LQT, sleepapnea,	-	-	Familial, autosomal dominant	-	-	5y	periodic paralysis	-	Ikuko Takeda	00206688
0000154559	broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, U wave, LQT,PVC. muscle biopsy: tubular aggregates.	-	-	Familial	-	20y	15y	periodic paralysis	-	Ikuko Takeda	00206689
0000154560	bigeminy, couplet, bidirectional VT	-	-	Familial, autosomal dominant	-	-	-	-	-	Ikuko Takeda	00206690
0000154561	bigeminy, couplet, bidirectional VT, prolonged Quc, prominent U wave	-	-	Isolated (sporadic)	-	-	-	-	-	Ikuko Takeda	00206691
0000154562	hypertelorism, micrognathia, serum potassium mildly decreased, broad-based nose, low-set ears, premature ventricular contraction, ventricular tachycardia, mildly decreased, premature ventricular contractions, ventricular tachycardia, CMAP was decreased,	-	-	Familial, autosomal dominant	-	19y	5y	periodic paralysis	-	Ikuko Takeda	00206692
0000154563	catecholaminergic polymorphic ventricular tachycardia,bidirectional VT,Syncope-exertion, palpitations, Nonsustained PVT, ventricular ectopy, Mild mitral regurgitation, mild thickening of mitral valve leaflets	-	-	-	-	-	-	-	-	Ikuko Takeda	00206693
0000154564	PVC, VT	-	-	-	-	-	-	-	-	Ikuko Takeda	00206694
0000154565	normokalemia, micrognathia, retrognathia, hypertelorism, broad-based nose, clinodactyly of the third digit, syndactyly of toes, polymorphic ventricular tachycardia, bidirectional VT, LQT, long Quc,	-	-	Isolated (sporadic)	-	-	-	-	-	Ikuko Takeda	00206695
0000154567	hip subluxaion, bigeminy, ventricular tachycardia	-	-	Familial, autosomal dominant	-	24y	9y	periodic paralysis	-	Ikuko Takeda	00206697
0000154568	hypokalemic, bigeminy, shor stature, low-set ears, micrognathia	-	-	Familial, autosomal dominant	-	-	-	-	-	Ikuko Takeda	00206698
0000154569	hypokalemia, mild learning difficulties, short stature, hypertelorism, low-set ears, hypoplastic mandible, clinodactyly, overriding toes, palatal deformity, LQT. muscle biopsy: myopathic.	-	-	Familial, autosomal dominant	-	15y	15y	attacks of weakness, intermittent chest pain, recurrent palpitations, syncope	-	Ikuko Takeda	00206699
0000154570	broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, VT, PVC, LQT. muscle biopsy: tubular aggregates.	-	-	Familial, autosomal dominant	-	12y	2y	periodic paralysis	-	Ikuko Takeda	00206700
0000154571	LQT, polymorphic VT, bigeminy	-	-	-	-	-	19y	-	-	Ikuko Takeda	00206701
0000154572	bigeminy, bidirectiona VT, syncope, prolonged Quc, high T&U amplitude	-	-	Familial, autosomal dominant	-	-	-	-	-	Ikuko Takeda	00206702
0000154573	pregnancy, syncope, micrognathia, hand clinodactyly, polymorphic PVC, nonsustain VT,	-	-	-	-	26y	4y	ventricular arrhythmia	-	Ikuko Takeda	00206703
0000154575	RBBB, bigeminy	-	-	-	-	-	-	-	-	Ikuko Takeda	00206705
0000154576	PVC, bilateral VT	-	-	-	-	-	1y	paralysis	-	Ikuko Takeda	00206706
0000154577	LQT, PVC	-	-	-	-	-	-	-	-	Ikuko Takeda	00206707
0000154578	Asymptomatic/ventricular ectopy, polymorphic VT, flattening of T-waves	-	-	-	-	11y	-	-	-	Ikuko Takeda	00206708
0000154579	muscle pain, ventricular arrhythmia, bidirectional tachycardia and extrasystolis in ECG. muscle biopsy: normal.	-	-	Familial, autosomal dominant	-	23y	10y	muscle pain	-	Ikuko Takeda	00206709
0000154580	cardiac arrest, VF, PVC, bigeminy, trigeminy, bidirectional VT, short stature(1.52), hypertelorism, micrognathia, low-set ear, prominent U wave,	-	-	Familial	-	37y	14y	PVC	-	Ikuko Takeda	00206710
0000154581	hypertelorism, micrognathia,Clinodactyly, a broad-based nose, low-set ears, CMAP decrease, normokalemia, asymptomatic premature ventricular, weakness was 2–3 days	-	-	Familial, autosomal dominant	-	16y	11y	periodic paralysis	-	Ikuko Takeda	00206711
0000154582	Dcreasement of CMAP amplitude in long exercise, attack last 1-2 weeks, normakalemia, Short stature (1.56m), low-set ear, broad forehead, short philtrum, cognitive impairement, palpitations, bigeminy, right bundle branch block, ventricular tachycardia	-	-	Familial	-	-	12y	periodic paralysis	-	Ikuko Takeda	00206712
0000154583	PVC, bigeminy, couplet, bidirectional, malaise	-	-	-	-	-	-	-	-	Ikuko Takeda	00206713

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Global Variome shared LOVD

MCM6 (minichromosome maintenance complex component 6)