Disease #00087

Official abbreviation	Pheo
Name	Pheochromocytoma, susceptibility to
OMIM ID	171300
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	23
Phenotype entries for this disease	23
Associated with 6 genes	MAX, RET, SDHB, SDHD, TMEM127, VHL
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Gender: The gender of the reported individual.
All options:

? = Unknown
F = Female
M = Male
rF = Raised as female
rM = Raised as male

Geographic origin: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.

Geographic origin: The second geographic origin of the individual (when parents are from different regions) (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.

Population: Additional information on the individual's population.

Consanguinity: Indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

? = Unknown
no = Non-consanguineous parents
yes = Consanguineous parents

Remarks: Remarks about the individual.

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

23 entries on 1 page. Showing entries 1 - 23.

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Individual ID	Reference	Gender	Geographic origin	Geographic origin	Population	Consanguinity	Remarks	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00015430	-	F	Megara	-	Greek	no	-	BrCa, Pheo	-	-	-	0	1	Despoina Kalfakakou
00020489	-	M	Amfilochia	Arta	Greek	no	-	Pheo, RCC	-	VHL	-	0	1	Despoina Kalfakakou
00020493	-	F	Nikisiani, Drama	-	Greek	no	-	BBT, HMGM, PanLes, Pheo	-	VHL	VHL	1	9	Despoina Kalfakakou
00020513	-	M	Pontokomi, Kozani	Kordelio, Thessaloniki	Greek	no	-	ADNM, Pheo, RCC	-	VHL	VHL	1	2	Despoina Kalfakakou
00020521	-	F	Naxos	Crete	Greek	no	-	BBT, BKT, Pheo	-	VHL	-	0	1	Despoina Kalfakakou
00020580	-	M	-	-	Greek	no	-	MNGM, OBT, Pheo, TRC	-	-	ATM	1	3	Despoina Kalfakakou
00020588	-	M	Klio, Mitilini	-	Greek	no	-	HypPT, Pheo, TRC	-	RET	-	0	1	Despoina Kalfakakou
00020592	-	F	Kefalonia	-	Greek	no	-	Pheo	-	RET	-	0	1	Despoina Kalfakakou
00020729	-	F	-	-	Greek	no	-	Pheo	-	SDHB, SDHC, SDHD	-	0	1	Despoina Kalfakakou
00020734	-	F	Kozani	-	Greek	no	-	CAL, GIST, NF, Pheo	-	-	BAP1, ERCC4, FANCE, KIT, MLH1, MUTYH, NF1, PTCH1, SDHB, SUFU	11	1	Despoina Kalfakakou
00020766	-	F	Milies, Euboea	Krioneritis, Euboea	Greek	no	-	PGL2, Pheo	-	-	ATM, BLM, FANCE, FANCI, FANCM, FLCN, MLH1, MSH6, NBN, RECQL4, RET, TSC1, TSC2	16	1	Despoina Kalfakakou
00020776	-	F	Kalamata	-	Greek	no	-	Pheo	-	-	ATM, BRCA1, BRCA2, CEP57, ERCC3, EZH2, GATA2, GPC3, MLH1, PMS1, SLX4, TSC1	14	1	Despoina Kalfakakou
00020782	-	F	Epiniana, Evrytania	-	Greek	no	-	HMGM, Pheo, PNCA2, RCC	-	-	BLM, DIS3L2, EXT2, FANCA, FANCG, PTCH1, RAD51D, RECQL4, SDHAF2, TSC2	11	1	Despoina Kalfakakou
00020821	-	F	Mousoura, Missolonghi	-	Greek	no	-	Pheo	-	-	ATM, BRCA2, CHEK2, DICER1, FANCA, FANCD2, FANCI, SLX4	15	1	Despoina Kalfakakou
00020844	-	M	Rhodes	-	Greek	no	-	Pheo	-	-	BRCA2, ERCC4, EXT2, HNF1A, KIT, RECQL4	6	1	Despoina Kalfakakou
00020848	-	F	Albania	-	Greek	no	-	Pheo	-	-	ALK, CDH1, FANCM, RECQL4, RUNX1, SMAD4, WRN	10	1	Despoina Kalfakakou
00020873	-	M	Nisyros	Constantinople	Greek	no	-	CAL, HypPT, NDL, Pheo	-	-	ALK, BAP1, BRCA2, BUB1B, DIS3L2, ERCC2, MLH1, NF1, PTCH1, RB1, SUFU	14	2	Despoina Kalfakakou
00020883	-	F	Asia Minor	Pontus	Greek	no	-	Pheo	-	-	ATM, BMPR1A, CHEK2, EGFR, ERCC2, FANCB, PMS2, TP53, TSC2, XPA	13	1	Despoina Kalfakakou
00020909	-	M	Ariada, Etolia-Akarnania	-	Greek	no	-	PGL2, Pheo	-	-	CYLD, ERCC3, ERCC4, FANCA, FANCD2, FANCE, KIT, NSD1, RET	11	1	Despoina Kalfakakou
00020940	-	M	Syria	-	Syrian	no	-	Pheo	-	-	AIP, APC, BRCA2, FANCA, FANCC, FANCD2, FANCL, MLH1, MSH6, NBN, PTCH1, RB1, RHBDF2, WT1	15	1	Despoina Kalfakakou
00020944	-	F	Limni, Euboea	-	Greek	no	-	Pheo	-	-	ALK, APC, ATM, BRCA2, PMS2, RECQL4, TSC2, WRN	10	1	Despoina Kalfakakou
00020949	-	M	Astros, Kynouria	Amfilochia	Greek	no	-	Pheo	-	-	AIP, BLM, CHEK2, DIS3L2, EXT1, FANCE, MSH6, PTCH1, RB1, RECQL4, SMARCB1	12	1	Despoina Kalfakakou
00021994	-	M	Negades, Zagori	Ioannina	Greek	-	-	Pheo	-	-	BAP1, BRCA1, BUB1B, CDC73, ERCC2, FANCA, FLCN, PRKAR1A, RECQL4	10	1	Despoina Kalfakakou

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