Phenotype: Arterial stenosis (HP:0100545)
Associated genes and diseases:
gene_symbol: LDLR
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: LDLR
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: PCSK9
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: LDLRAP1
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: APOB
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: APOB
disease_id: OMIM:144010
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 2
gene_symbol: ABCG5
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG8
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG8
disease_id: OMIM:210250
disease_name: SITOSTEROLEMIA 1
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
gene_symbol: LMNA
disease_id: ORPHA:79084
disease_name: Familial partial lipodystrophy, Köbberling type
FPLD1
Familial partial lipodystrophy type 1
gene_symbol: LMNA
disease_id: ORPHA:363618
disease_name: LMNA-related cardiocutaneous progeria syndrome
LCPS
gene_symbol: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
gene_symbol: LMNA
disease_id: ORPHA:2348
disease_name: Familial partial lipodystrophy, Dunnigan type
Dunnigan syndrome
FPLD2
Familial partial lipodystrophy type 2
gene_symbol: SMPD1
disease_id: ORPHA:77293
disease_name: Chronic visceral acid sphingomyelinase deficiency
Chronic visceral ASMD
NPD-B
Niemann-Pick disease type B
gene_symbol: CELA2A
disease_id: OMIM:618620
disease_name: ABDOMINAL OBESITY-METABOLIC SYNDROME 4
gene_symbol: APOA2
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: EPHX2
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: PPP1R17
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: GHR
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: PPARG
disease_id: ORPHA:79083
disease_name: PPARG-related familial partial lipodystrophy
FPLD3
Familial partial lipodystrophy type 3
PPARG-related FPLD
gene_symbol: ABCA1
disease_id: OMIM:205400
disease_name: TANGIER DISEASE
gene_symbol: MYH11
disease_id: OMIM:132900
disease_name: AORTIC ANEURYSM, FAMILIAL THORACIC 4
gene_symbol: MYH11
disease_id: ORPHA:229
disease_name: Familial aortic dissection
Annuloaortic ectasia
Cystic medial necrosis of aorta
gene_symbol: MYH11
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: BRCC3
disease_id: ORPHA:280679
disease_name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
gene_symbol: CYP7A1
disease_id: ORPHA:209902
disease_name: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
gene_symbol: ESR1
disease_id: ORPHA:785
disease_name: Estrogen resistance syndrome
gene_symbol: SETD5
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: BRPF1
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: PNPLA2
disease_id: ORPHA:565612
disease_name: Primary triglyceride deposit cardiomyovasculopathy
Neutral lipid storage disease with severe cardiovascular involvement
TGCV
gene_symbol: XYLT1
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: XYLT2
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: LOX
disease_id: OMIM:617168
disease_name: AORTIC ANEURYSM, FAMILIAL THORACIC 10
gene_symbol: LOX
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: ZNF687
disease_id: OMIM:616833
disease_name: PAGET DISEASE OF BONE 6
gene_symbol: TGFBR1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: TGFBR2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: SMAD2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: TGFB3
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: SMAD3
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: TGFB2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: SMAD4
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: FBN1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: ACTA2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: PRKG1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: FOXE3
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MAT2A
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: HEY2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MFAP5
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MYLK
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: THSD4
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: EFEMP2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
gene_symbol: STAT1
disease_id: ORPHA:391487
disease_name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: TMEM127
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: MAX
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: KIF1B
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: RET
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: VHL
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: GEMIN4
disease_id: OMIM:617913
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: POU3F4
disease_id: ORPHA:1435
disease_name: Xq21 microdeletion syndrome
Ayazi syndrome
Del(X)(q21)
Monosomy Xq21
gene_symbol: SERPIND1
disease_id: OMIM:612356
disease_name: HEPARIN COFACTOR II DEFICIENCY
gene_symbol: MPL
disease_id: ORPHA:71493
disease_name: Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
gene_symbol: THPO
disease_id: ORPHA:71493
disease_name: Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
gene_symbol: JAK2
disease_id: ORPHA:71493
disease_name: Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
gene_symbol: AGXT
disease_id: OMIM:259900
disease_name: HYPEROXALURIA, PRIMARY, TYPE I
gene_symbol: APOE
disease_id: ORPHA:412
disease_name: Dysbetalipoproteinemia
Broad-beta disease
Familial dyslipidemia type 3
HLP type 3
Hyperlipidemia type 3
Hyperlipoproteinemia type 3
Remnant hyperlipoproteinemia
gene_symbol: LIPC
disease_id: ORPHA:140905
disease_name: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Hyperlipidemia due to HL deficiency
Hyperlipidemia due to HTGL deficiency
Hyperlipidemia due to hepatic lipase deficiency
Hyperlipidemia due to hepatic triglyceride lipase deficiency
gene_symbol: APOA1
disease_id: OMIM:618463
disease_name: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2
gene_symbol: APOA1
disease_id: ORPHA:425
disease_name: Apolipoprotein A-I deficiency
ApoA-I deficiency
Familial apoA-I deficiency
Familial hypoalphalipoproteinemia
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC6
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: CEP19
disease_id: OMIM:615703
disease_name: MORBID OBESITY AND SPERMATOGENIC FAILURE
gene_symbol: GPIHBP1
disease_id: OMIM:615947
disease_name: HYPERLIPOPROTEINEMIA, TYPE ID
gene_symbol: MEF2A
disease_id: OMIM:608320
disease_name: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: LRP6
disease_id: OMIM:610947
disease_name: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2
gene_symbol: F12
disease_id: ORPHA:330
disease_name: Congenital factor XII deficiency
Congenital Hageman factor deficiency
gene_symbol: BEST1
disease_id: OMIM:193220
disease_name: VITREORETINOCHOROIDOPATHY
gene_symbol: NOTCH3
disease_id: ORPHA:136
disease_name: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
CADASIL
Hereditary multi-infarct dementia
gene_symbol: ATP7A
disease_id: ORPHA:565
disease_name: Menkes disease
MD
Menkes kinky hair disease
Menkes syndrome
gene_symbol: COL3A1
disease_id: ORPHA:286
disease_name: Vascular Ehlers-Danlos syndrome
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
gene_symbol: ENPP1
disease_id: OMIM:208000
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
gene_symbol: ENPP1
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: ABCC6
disease_id: OMIM:208000
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
gene_symbol: ABCC6
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: PCNT
disease_id: ORPHA:2637
disease_name: Microcephalic osteodysplastic primordial dwarfism type II
MOPD type II
Majewski osteodysplastic primordial dwarfism type II
gene_symbol: YY1AP1
disease_id: ORPHA:79094
disease_name: Grange syndrome
Grange occlusive arterial syndrome
Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: IL12B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: HLA-B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: MLX
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: SLC2A10
disease_id: ORPHA:3342
disease_name: Arterial tortuosity syndrome
ATS
gene_symbol: ADA2
disease_id: ORPHA:820
disease_name: Sneddon syndrome
Ehrmann-Sneddon syndrome
Livedo racemosa-cerebrovascular accident syndrome
Livedo reticularis-cerebrovascular accident syndrome
gene_symbol: GNA11
disease_id: ORPHA:1556
disease_name: Cutis marmorata telangiectatica congenita
CMTC
gene_symbol: ARL6IP6
disease_id: ORPHA:1556
disease_name: Cutis marmorata telangiectatica congenita
CMTC
gene_symbol: HTRA1
disease_id: OMIM:600142
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
gene_symbol: ANO1
disease_id: OMIM:620687
disease_name: MOYAMOYA DISEASE 7
gene_symbol: AEBP1
disease_id: ORPHA:536532
disease_name: Classical-like Ehlers-Danlos syndrome type 2
AEBP1-related EDS
AEBP1-related Ehlers-Danlos syndrome
Classical-like EDS type 2
clEDS type 2
gene_symbol: AEBP1
disease_id: OMIM:618000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2