Phenotypes for disease #02045 (pyr.kin. deficiency (pyruvate kinase deficiency), OMIM:266200)

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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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327 entries on 4 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
0000166509	pyruvate kinase deficiency	-	pyruvate kinase deficiency	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00217266
0000172727	mild/moderate	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00228915
0000172728	mild	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00228922
0000172729	mild	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00228923
0000172730	mild	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00228924
0000172731	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00228925
0000172732	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00228926
0000172733	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00228927
0000172734	mild/moderate	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00228928
0000172735	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00228959
0000172736	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00228961
0000172737	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00228964
0000172738	hemolytic anemia	-	-	Isolated (sporadic)	-	-	-	-	-	Richard van Wijk	00228987
0000172739	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00228999
0000172740	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229012
0000172741	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229022
0000172742	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229023
0000172743	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229032
0000172744	mild/moderate	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229037
0000172745	mild/moderate	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229067
0000172746	mild/moderate	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229079
0000172747	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229100
0000172748	mild/moderate	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229101
0000172749	mild/moderate	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229102
0000172750	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229112
0000172751	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229123
0000172752	mild	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229132
0000172755	hemolytic anemia	-	-	Isolated (sporadic)	-	-	-	-	-	Richard van Wijk	00229167
0000172757	mild	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229175
0000172758	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229185
0000172759	mild/moderate	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229193
0000172760	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229201
0000172761	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229202
0000172762	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229207
0000172763	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229219
0000172764	mild/moderate	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229220
0000172765	mild/moderate	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229223
0000172766	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229228
0000172767	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229273
0000172768	mild	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229288
0000172769	mild	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229289
0000172770	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229357
0000172771	severe	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229358
0000172772	hemolytic anemia	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00228956
0000172773	hemolytic anemia	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229034
0000172774	hemolytic anemia	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229164
0000172775	hemolytic anemia	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229165
0000172776	hemolytic anemia	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229169
0000172777	hemolytic anemia	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229230
0000172779	hemolytic anemia	-	-	Unknown	-	-	-	-	-	Richard van Wijk	00229232
0000295864	see paper; ...	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00403117
0000295865	see paper; ...	pyruvate kinase deficiency	-	Familial, autosomal recessive	02y	-	-	-	-	Johan den Dunnen	00229412
0000296027	splenectomy, not transfused; hemoglobin 6.1 g/dl; no gallstones; iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y2m	-	-	-	Johan den Dunnen	00403287
0000296028	no splenectomy, regularly transfused; hemoglobin 6.2 g/dl; no gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y5m	-	-	-	Johan den Dunnen	00403288
0000296029	splenectomy, not regularly transfused; hemoglobin 9.3 g/dl; no gallstones; iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y8m	-	-	-	Johan den Dunnen	00403289
0000296030	splenectomy, not transfused; hemoglobin 8.4 g/dl; no gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	4y	-	-	-	Johan den Dunnen	00403290
0000296031	splenectomy, not transfused; hemoglobin 7.4 g/dl; no gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y5m	-	-	-	Johan den Dunnen	00403291
0000296032	splenectomy, not transfused; hemoglobin 4.3 g/dl; no gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	1y1m	-	-	-	Johan den Dunnen	00403292
0000296033	splenectomy, not transfused; hemoglobin 9.3 g/dl; gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403293
0000296034	splenectomy, not transfused; hemoglobin 10.7 g/dl; gallstones; iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403294
0000296035	splenectomy, not transfused; hemoglobin 9 g/dl; gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403295
0000296036	no splenectomy, not transfused; hemoglobin 8.4 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	5y	-	-	-	Johan den Dunnen	00403296
0000296037	splenectomy, not transfused; hemoglobin 9.8 g/dl; no gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00403297
0000296038	splenectomy, not transfused; hemoglobin 10.4 g/dl; gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y1m	-	-	-	Johan den Dunnen	00403298
0000296039	splenectomy, not transfused; hemoglobin 9.6 g/dl; gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403299
0000296040	no splenectomy, regularly transfused; hemoglobin 10.7 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403300
0000296041	splenectomy, not transfused; hemoglobin 12.8 g/dl; no gallstones; iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y2m	-	-	-	Johan den Dunnen	00403301
0000296042	no splenectomy, not regularly transfused; hemoglobin 7.5 g/dl; no gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y3m	-	-	-	Johan den Dunnen	00403302
0000296043	splenectomy, not transfused; hemoglobin 8 g/dl; gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403303
0000296044	splenectomy, not transfused; hemoglobin 7.3 g/dl; no gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00403304
0000296045	no splenectomy, regularly transfused; hemoglobin 7.1 g/dl; no gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y2m	-	-	-	Johan den Dunnen	00403305
0000296046	no splenectomy, not regularly transfused; hemoglobin 10.5 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	1y2m	-	-	-	Johan den Dunnen	00403306
0000296047	no splenectomy, regularly transfused; hemoglobin 8.3 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403307
0000296048	no splenectomy, not regularly transfused; hemoglobin 7.3 g/dl; no gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403308
0000296049	splenectomy, not transfused; hemoglobin 9 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403309
0000296050	splenectomy, not transfused; hemoglobin 9.1 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403310
0000296051	splenectomy, not transfused; hemoglobin 9.7 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403311
0000296052	splenectomy, not transfused; hemoglobin 11.2 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403312
0000296053	splenectomy, not transfused; hemoglobin 10.9 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403313
0000296054	splenectomy, not transfused; hemoglobin 10.2 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403314
0000296055	splenectomy, not transfused; hemoglobin 8.7 g/dl; gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y2m	-	-	-	Johan den Dunnen	00403315
0000296056	splenectomy, not transfused; hemoglobin 8.2 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403316
0000296057	splenectomy, not transfused; hemoglobin 10.5 g/dl; gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403317
0000296058	splenectomy, not transfused; hemoglobin 8.8 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403318
0000296059	splenectomy, not transfused; hemoglobin 9.9 g/dl; gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403319
0000296060	splenectomy, not transfused; hemoglobin 9.1 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y5m	-	-	-	Johan den Dunnen	00403320
0000296061	splenectomy, not transfused; hemoglobin 8.5 g/dl; gallstones; iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y1m	-	-	-	Johan den Dunnen	00403321
0000296062	splenectomy, not transfused; hemoglobin 10.2 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y5m	-	-	-	Johan den Dunnen	00403322
0000296063	splenectomy, not transfused; hemoglobin 8.7 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403323
0000296064	splenectomy, not transfused; hemoglobin 10 g/dl; gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403324
0000296065	splenectomy, not transfused; hemoglobin 8.4 g/dl; no gallstones; iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403325
0000296066	splenectomy, not transfused; hemoglobin 9.7 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403326
0000296067	splenectomy, not transfused; hemoglobin 9.7 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403327
0000296068	splenectomy, not transfused; hemoglobin 8.5 g/dl; no gallstones; no iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403328
0000296069	splenectomy, not transfused; hemoglobin 10.1 g/dl; gallstones; iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y1m	-	-	-	Johan den Dunnen	00403329
0000296070	splenectomy, not transfused; hemoglobin 10.5 g/dl; no gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y	-	-	-	Johan den Dunnen	00403330
0000296071	splenectomy, not transfused; hemoglobin 10.4 g/dl; gallstones; iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y1m	-	-	-	Johan den Dunnen	00403331
0000296072	splenectomy, not transfused; hemoglobin 8.9 g/dl; gallstones; iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	1y6m	-	-	-	Johan den Dunnen	00403332
0000296073	splenectomy, not regularly transfused; hemoglobin 9.4 g/dl; gallstones; iron overload	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	2y8m	-	-	-	Johan den Dunnen	00403333
0000296074	splenectomy, not transfused; hemoglobin 8.5 g/dl; gallstones	pyruvate kinase deficiency	-	Familial, autosomal recessive	-	0y1m	-	-	-	Johan den Dunnen	00403334

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