Zpráva o onemocněních · Cardiovascular

Primary Lymphedema

Inherited conditions in which the lymphatic system does not develop or work normally, causing long-term swelling, usually of the legs. Some forms also affect the eyes, hair, heart or other organs.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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Všech 17 onemocnění, která analyzujeme

Milroy Disease (Lymphatic Malformation 1)
Lymphoedema-Distichiasis Syndrome
Lymphatic Malformation 3
Lymphatic Malformation 4
Lymphatic Malformation 6
Lymphatic Malformation 7
Lymphatic Malformation 9
Lymphatic Malformation 10
Lymphatic Malformation 11
Lymphatic Malformation 12
Lymphatic Malformation 13
Hennekam Syndrome Type 1
Hennekam Syndrome Type 2
Hennekam Syndrome Type 3
Hypotrichosis-Lymphoedema-Telangiectasia Syndrome
Hypotrichosis-Lymphoedema-Telangiectasia-Renal Defect Syndrome
Microcephaly with Chorioretinopathy, Lymphoedema or Intellectual Disability

Milroy Disease (Lymphatic Malformation 1)

Autozomálně dominantní

Swelling of the lower legs and feet from birth or early childhood, caused by changes in FLT4.

Co se diagnózou změní

Knowing about it supports early compression therapy, skin care and prompt treatment of infections.

Analyzované geny

FLT4

Známé také jako

congenital hereditary lymphedema; early onset lymphedema; FLT4 hereditary lymphedema; hereditary lymphedema 1; hereditary lymphedema caused by mutation in FLT4; hereditary lymphedema type I; LMPH1A; lymphedema, hereditary, 1A; lymphedema, hereditary, type 1A; Milroy disease; Nonne-Milroy disease; Nonne-Milroy lymphedema; Nonne-Milroy syndrome; Nonne’s syndrome; primary congenital lymphedema

MONDO:0007919 OMIM 153100 Orphanet 79452 MedGen 309963

Lymphoedema-Distichiasis Syndrome

Autozomálně dominantní

A condition caused by changes in FOXC2 that causes leg swelling from puberty and an extra row of eyelashes, sometimes with varicose veins, droopy eyelids or heart defects.

Co se diagnózou změní

Knowing about it supports compression therapy and eye and heart checks.

Analyzované geny

FOXC2

Známé také jako

hereditary lymphedema-distichiasis syndrome (subtype)

MONDO:0007922 OMIM 153400 Orphanet 33001 MedGen 75566

Lymphatic Malformation 3

Autozomálně dominantní

Hereditary lymphoedema caused by changes in GJC2, usually starting in childhood or adolescence.

Analyzované geny

GJC2

Známé také jako

GJC2 hereditary lymphedema; hereditary lymphedema caused by mutation in GJC2; LMPH1C; lymphedema, hereditary, 1C; lymphedema, hereditary, IC; lymphedema, hereditary, type 1C

MONDO:0013278 OMIM 613480 MedGen 1652857

Lymphatic Malformation 4

Autozomálně dominantní

Hereditary lymphoedema caused by changes in VEGFC.

Analyzované geny

VEGFC

Známé také jako

hereditary lymphedema caused by mutation in VEGFC; LMPH1D; lymphedema, hereditary, 1D; lymphedema, hereditary, type 1D; VEGFC hereditary lymphedema

MONDO:0014393 OMIM 615907 MedGen 1651756

Lymphatic Malformation 6

Autozomálně recesivní

Generalised lymphatic dysplasia caused by changes in PIEZO1, which can cause swelling before birth (fetal hydrops) and lifelong swelling.

Co se diagnózou změní

Knowing about it informs reproductive counselling and pregnancy monitoring.

Analyzované geny

PIEZO1

Známé také jako

generalised lymphatic dysplasia of Fotiou; generalized lymphatic dysplasia of Fotiou; LMPH3; lymphedema, hereditary, III; lymphedema, hereditary, type III; PIEZO1-related generalised lymphatic dysplasia with systemic involvement; PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis; PIEZO1-related generalized lymphatic dysplasia with systemic involvement; PIEZO1-related LRHF/GLD; PIEZO1-related lymphatic-related hydrops fetalis

MONDO:0014797 OMIM 616843 Orphanet 568062 MedGen 908120

Lymphatic Malformation 7

Autozomálně dominantní

A condition caused by changes in EPHB4 that can cause fluid build-up before birth (fetal hydrops) or a hole between the upper heart chambers.

Analyzované geny

EPHB4

Známé také jako

HFASD; hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD

MONDO:0015009 OMIM 617300 MedGen 934596

Lymphatic Malformation 9

Autozomálně dominantní

A rare inherited form of primary lymphoedema.

Analyzované geny

CELSR1

Známé také jako

LMPHM9

MONDO:0030270 OMIM 619319 MedGen 1779656

Lymphatic Malformation 10

A rare inherited form of primary lymphoedema.

Analyzované geny

ANGPT2

Známé také jako

LMPHM10

MONDO:0023662 OMIM 619369 MedGen 1780452

Lymphatic Malformation 11

Autozomálně dominantní

A rare inherited form of primary lymphoedema.

Analyzované geny

TIE1

Známé také jako

LMPHM11

MONDO:0030316 OMIM 619401 MedGen 1784862

Lymphatic Malformation 12

Autozomálně recesivní

A rare inherited lymphatic disorder affecting the central lymphatic vessels.

Analyzované geny

MDFIC

Známé také jako

central conducting lymphatic anomaly; LMPHM12

MONDO:0031043 OMIM 620014 MedGen 1823976

Lymphatic Malformation 13

Autozomálně recesivní

A rare inherited form of primary lymphoedema.

Analyzované geny

THSD1

MONDO:0859379 OMIM 620244 MedGen 1840915

Hennekam Syndrome Type 1

Autozomálně recesivní

A condition caused by changes in CCBE1 that combines lymphoedema, swollen lymph vessels in the gut and other organs, and variable learning difficulties.

Analyzované geny

CCBE1

Známé také jako

CCBE1 Hennekam syndrome; Hennekam lymphangiectasia-lymphedema syndrome type 1; Hennekam syndrome caused by mutation in CCBE1; HKLLS1; lymphatic dysplasia, generalised

MONDO:0009337 OMIM 235510 MedGen 860487

Hennekam Syndrome Type 2

Autozomálně recesivní

A condition caused by changes in FAT4 that combines lymphoedema, swollen lymph vessels in the gut and variable learning difficulties.

Analyzované geny

FAT4

Známé také jako

FAT4 Hennekam syndrome; Hennekam lymphangiectasia-lymphedema syndrome type 2; Hennekam syndrome caused by mutation in FAT4; HKLLS2

MONDO:0014454 OMIM 616006 MedGen 863376

Hennekam Syndrome Type 3

Autozomálně recesivní

A condition caused by changes in ADAMTS3 that combines lymphoedema and swollen lymph vessels in the gut and other organs.

Analyzované geny

ADAMTS3

Známé také jako

HKLLS3

MONDO:0032564 OMIM 618154 MedGen 1648368

Hypotrichosis-Lymphoedema-Telangiectasia Syndrome

A condition caused by changes in SOX18 that combines sparse hair, lymphoedema and small dilated blood vessels in the skin.

Analyzované geny

SOX18

Známé také jako

HLTS

MONDO:0011914 OMIM 607823 MedGen 375070

Hypotrichosis-Lymphoedema-Telangiectasia-Renal Defect Syndrome

Autozomálně dominantní

A form of SOX18-related disease that also affects the kidneys.

Analyzované geny

SOX18

Známé také jako

HLTRS

MONDO:0019073 OMIM 137940 MedGen 1373459

Microcephaly with Chorioretinopathy, Lymphoedema or Intellectual Disability

Autozomálně dominantní

A condition caused by changes in KIF11 with variable small head size, eye changes, leg lymphoedema and learning difficulties.

Analyzované geny

KIF11

Známé také jako

KIF11 disease; KIF11-associated disorder; lymphedema, microcephaly and chorioretinopathy syndrome; MCLMR; microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant; microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; microcephaly, lymphedema, chorioretinal dysplasia syndrome; MLCRD; MLCRD syndrome

MONDO:0007918 OMIM 152950 Orphanet 2526 MedGen 320559

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Primary Lymphedema

Všech 17 onemocnění, která analyzujeme

Milroy Disease (Lymphatic Malformation 1)

Lymphoedema-Distichiasis Syndrome

Lymphatic Malformation 3

Lymphatic Malformation 4

Lymphatic Malformation 6

Lymphatic Malformation 7

Lymphatic Malformation 9

Lymphatic Malformation 10

Lymphatic Malformation 11

Lymphatic Malformation 12

Lymphatic Malformation 13

Hennekam Syndrome Type 1

Hennekam Syndrome Type 2

Hennekam Syndrome Type 3

Hypotrichosis-Lymphoedema-Telangiectasia Syndrome

Hypotrichosis-Lymphoedema-Telangiectasia-Renal Defect Syndrome

Microcephaly with Chorioretinopathy, Lymphoedema or Intellectual Disability

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