GRNG
MCID: GRN034
MIFTS: 55

Grange Syndrome (GRNG)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Grange Syndrome

MalaCards integrated aliases for Grange Syndrome:

Name: Grange Syndrome 57 25 59 75 37 6
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 57 25 75 73
Grange Occlusive Arterial Syndrome 57 25 59 75
Grng 57 25 75
Progressive Arterial Occlusive Disease-Hypertension-Heart Defects-Bone Fragility-Brachysyndactyly Syndrome 59
Arterial Occlusive Diseases 44

Characteristics:

Orphanet epidemiological data:

59
grange syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
grange syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Grange Syndrome

Genetics Home Reference : 25 Grange syndrome is a rare condition that primarily affects the blood vessels. It is characterized by narrowing (stenosis) or blockage (occlusion) of arteries that supply blood to various organs and tissues, including the kidneys, brain, and heart. Stenosis or occlusion of the arteries that supply blood to the kidneys (renal arteries) can result in chronic high blood pressure (hypertension). Blockage of the arteries that carry blood to the brain (cerebral arteries) can cause a stroke.

MalaCards based summary : Grange Syndrome, also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly, is related to peripheral vascular disease and fibromuscular dysplasia. An important gene associated with Grange Syndrome is YY1AP1 (YY1 Associated Protein 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Selenium Micronutrient Network. Affiliated tissues include bone, heart and brain, and related phenotypes are hypertension and patent ductus arteriosus

UniProtKB/Swiss-Prot : 75 Grange syndrome: An autosomal recessive syndrome of stenosis or occlusion of multiple arteries, including renal, abdominal, cerebral and probably coronary arteries, congenital heart defects, brachydactyly, syndactyly, bone fragility, and learning disabilities.

Description from OMIM: 602531

Related Diseases for Grange Syndrome

Diseases related to Grange Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 155)
# Related Disease Score Top Affiliating Genes
1 peripheral vascular disease 31.2 F3 PLAT SELE SELP THBD VCAM1
2 fibromuscular dysplasia 30.3 INO80 YY1 YY1AP1
3 buerger disease 29.9 MTHFR SELE
4 atrial fibrillation 29.6 PLAT SELP VWF
5 protein s deficiency 29.4 F3 MTHFR
6 takayasu arteritis 29.2 SELE THBD VCAM1 VWF
7 coronary heart disease 1 29.1 MTHFR PLAT SELE SELP VWF
8 essential thrombocythemia 29.1 F3 SELP THBD VWF
9 thrombosis 29.0 F3 MTHFR PLAT SELP THBD VWF
10 diabetes mellitus, noninsulin-dependent 28.9 CCL2 PLAT SELE VCAM1 VWF
11 vasculitis 28.9 CCL2 SELE THBD VCAM1 VWF
12 heart disease 28.8 CBS F3 MTHFR PLAT SELP VWF
13 thrombophilia due to thrombin defect 28.8 CBS F3 MTHFR PLAT THBD VWF
14 arteries, anomalies of 28.8 CCL2 F3 PLAT SELE SELP VCAM1
15 myocardial infarction 28.2 CBS CCL2 F3 MTHFR PLAT SELP
16 vascular disease 28.2 CBS CCL2 F3 MTHFR PLAT SELE
17 peripheral arterial occlusive disease 1 12.5
18 pseudoxanthoma elasticum 11.3
19 ischemia 10.4
20 limb ischemia 10.3
21 critical limb ischemia 10.3
22 lens subluxation 10.2 CBS MTHFR
23 mercury poisoning 10.2 PLAT THBD
24 postaxial acrofacial dysostosis 10.2 PLAT THBD
25 thrombophlebitis 10.2 MTHFR PLAT
26 unilateral absence of a pulmonary artery 10.1 THBD VWF
27 intermittent claudication 10.1
28 portal vein thrombosis 10.1 MTHFR SELP
29 legg-calve-perthes disease 10.1 SELP THBD
30 raynaud phenomenon 10.1 THBD VWF
31 immune-complex glomerulonephritis 10.1 SELP VCAM1
32 exposure keratitis 10.1 SELE SELP
33 boutonneuse fever 10.1 SELE THBD
34 primary thrombocytopenia 10.1 SELP VWF
35 dysfibrinogenemia 10.1 PLAT THBD
36 autoimmune disease of blood 10.1 SELP VWF
37 chronic active epstein-barr virus infection 10.1 SELE THBD
38 spotted fever 10.1 THBD VWF
39 lymphocytic vasculitis 10.1 SELE VCAM1
40 ischemic heart disease 10.1 CCL2 MTHFR
41 mooren's ulcer 10.1 SELE VCAM1
42 subendocardial myocardial infarction 10.1 SELE VCAM1
43 actinic prurigo 10.1 SELE VCAM1
44 cystathioninuria 10.1 CBS MTHFR
45 rheumatoid vasculitis 10.0 SELE VCAM1
46 platelet aggregation, spontaneous 10.0 PLAT SELP VWF
47 arteriosclerosis obliterans 10.0 SELP VCAM1
48 eisenmenger syndrome 10.0 PLAT THBD VWF
49 leukostasis 10.0 SELE VCAM1
50 scleritis 10.0 CCL2 SELE

Graphical network of the top 20 diseases related to Grange Syndrome:



Diseases related to Grange Syndrome

Symptoms & Phenotypes for Grange Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
brachydactyly
syndactyly
fifth-finger clinodactyly
phalangeal dysplasia (primarily middle phalanx)

Cardiovascular Vascular:
renovascular hypertension
renal artery stenosis
occlusive arterial vascular disease
beaded appearance of arteries (in some patients)
arterial aneurysms (in some patients)
more
Neurologic Central Nervous System:
mental retardation, mild to moderate
ischemic cerebrovascular disease (in some patients)
hemorrhagic cerebrovascular disease (rare)

Cardiovascular Heart:
coronary artery stenosis (in some patients)
bicuspid aortic valve (in some patients)

Skeletal Feet:
brachydactyly
syndactyly

Growth Weight:
low weight

Skeletal:
bone fragility
reduced mineralization

Skeletal Limbs:
multiple fractures (with minimal trauma)


Clinical features from OMIM:

602531

Human phenotypes related to Grange Syndrome:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
2 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
3 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
4 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
5 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
6 arterial stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100545
7 intellectual disability, borderline 59 32 hallmark (90%) Very frequent (99-80%) HP:0006889
8 aortic regurgitation 59 32 frequent (33%) Frequent (79-30%) HP:0001659
9 increased susceptibility to fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002659
10 syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001159
11 intellectual disability 32 HP:0001249
12 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
13 brachydactyly 32 HP:0001156
14 recurrent fractures 32 HP:0002757
15 renovascular hypertension 32 HP:0100817
16 decreased body weight 32 HP:0004325
17 finger clinodactyly 32 HP:0040019
18 carotid artery stenosis 32 HP:0100546
19 renal artery stenosis 32 HP:0001920
20 coronary artery stenosis 32 occasional (7.5%) HP:0005145

GenomeRNAi Phenotypes related to Grange Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NANOG protein expression GR00184-A-3 9.55 YY1
2 Decreased NANOG protein expression GR00184-A-6 9.55 VWF
3 Decreased NANOG protein expression GR00184-A-8 9.55 CCL2 VWF YY1
4 Decreased OCT4 protein expression GR00184-A-2 9.5 CCL2 YY1
5 Decreased OCT4 protein expression GR00184-A-5 9.5 VWF YY1
6 Decreased OCT4 protein expression GR00184-A-7 9.5 CCL2 VWF YY1
7 Decreased POU5F1-GFP protein expression GR00184-A-1 9.1 CCL2 VWF YY1
8 Decreased POU5F1-GFP protein expression GR00184-A-4 9.1 CCL2 VWF YY1

MGI Mouse Phenotypes related to Grange Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 F3 INO80 PLAT SELE SELP THBD
2 cardiovascular system MP:0005385 10.03 F3 INO80 PLAT SELE SELP THBD
3 growth/size/body region MP:0005378 10.02 F3 INO80 MTHFR PLAT SELE SELP
4 homeostasis/metabolism MP:0005376 10.02 F3 INO80 MTHFR PLAT SELE SELP
5 immune system MP:0005387 9.91 CCL2 F3 PLAT SELE SELP THBD
6 integument MP:0010771 9.7 F3 MTHFR PLAT SELE SELP THBD
7 mortality/aging MP:0010768 9.65 F3 INO80 MTHFR PLAT SELE SELP
8 respiratory system MP:0005388 9.1 F3 PLAT SELE SELP THBD YY1

Drugs & Therapeutics for Grange Syndrome

Search Clinical Trials , NIH Clinical Center for Grange Syndrome

Cochrane evidence based reviews: arterial occlusive diseases

Genetic Tests for Grange Syndrome

Anatomical Context for Grange Syndrome

MalaCards organs/tissues related to Grange Syndrome:

41
Bone, Heart, Brain, Kidney, Endothelial, Bone Marrow, Liver

Publications for Grange Syndrome

Articles related to Grange Syndrome:

# Title Authors Year
1
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. ( 30556293 )
2018
2
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. ( 27939641 )
2017
3
Grange syndrome: an identifiable cause of stroke in young adults. ( 22987684 )
2012
4
A new case of Grange syndrome without cardiac findings. ( 16691574 )
2006
5
Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome? ( 11241488 )
2001

Variations for Grange Syndrome

ClinVar genetic disease variations for Grange Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 YY1AP1 NM_001198903.1(YY1AP1): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic rs749232831 GRCh38 Chromosome 1, 155676562: 155676562
2 YY1AP1 NM_001198903.1(YY1AP1): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic rs749232831 GRCh37 Chromosome 1, 155646353: 155646353
3 YY1AP1 NM_001198903.1(YY1AP1): c.2390T> A (p.Leu797Ter) single nucleotide variant Pathogenic rs1057519597 GRCh38 Chromosome 1, 155659934: 155659934
4 YY1AP1 NM_001198903.1(YY1AP1): c.2390T> A (p.Leu797Ter) single nucleotide variant Pathogenic rs1057519597 GRCh37 Chromosome 1, 155629725: 155629725
5 YY1AP1 NM_001198903.1(YY1AP1): c.2401G> T (p.Glu801Ter) single nucleotide variant Pathogenic rs1057519598 GRCh38 Chromosome 1, 155659923: 155659923
6 YY1AP1 NM_001198903.1(YY1AP1): c.2401G> T (p.Glu801Ter) single nucleotide variant Pathogenic rs1057519598 GRCh37 Chromosome 1, 155629714: 155629714
7 YY1AP1 NM_001198903.1(YY1AP1): c.1903_1906delTCTG (p.Glu636Profs) deletion Pathogenic rs759089960 GRCh37 Chromosome 1, 155630209: 155630212
8 YY1AP1 NM_001198903.1(YY1AP1): c.1903_1906delTCTG (p.Glu636Profs) deletion Pathogenic rs759089960 GRCh38 Chromosome 1, 155660418: 155660421
9 YY1AP1 NM_001198903.1(YY1AP1): c.664C> T (p.Gln222Ter) single nucleotide variant Pathogenic rs1057519599 GRCh38 Chromosome 1, 155676622: 155676622
10 YY1AP1 NM_001198903.1(YY1AP1): c.664C> T (p.Gln222Ter) single nucleotide variant Pathogenic rs1057519599 GRCh37 Chromosome 1, 155646413: 155646413

Expression for Grange Syndrome

Search GEO for disease gene expression data for Grange Syndrome.

Pathways for Grange Syndrome

Pathways related to Grange Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 F3 PLAT SELE SELP THBD VWF
2
Show member pathways
12 CBS CCL2 MTHFR PLAT
3
Show member pathways
11.95 SELE SELP THBD
4 11.84 SELE SELP VCAM1
5
Show member pathways
11.82 F3 PLAT THBD VWF
6 11.7 F3 PLAT THBD VWF
7 11.69 CCL2 SELE VCAM1
8 11.56 CCL2 F3 VWF
9 11.5 CCL2 PLAT SELE THBD VCAM1
10 11.15 CCL2 SELE SELP VCAM1
11 11.09 SELE VCAM1
12 11.07 CCL2 THBD
13 11.02 CCL2 F3 SELE THBD VCAM1
14 10.7 CCL2 VCAM1
15 10.31 CBS MTHFR

GO Terms for Grange Syndrome

Cellular components related to Grange Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 CCL2 F3 PLAT SELE SELP THBD
2 Ino80 complex GO:0031011 8.8 INO80 YY1 YY1AP1

Biological processes related to Grange Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.83 CCL2 SELE SELP VCAM1 VWF
2 response to hypoxia GO:0001666 9.65 MTHFR PLAT VCAM1
3 blood coagulation GO:0007596 9.62 F3 PLAT THBD VWF
4 hemostasis GO:0007599 9.54 F3 THBD VWF
5 response to interleukin-1 GO:0070555 9.49 MTHFR SELE
6 calcium-mediated signaling using intracellular calcium source GO:0035584 9.46 SELP VCAM1
7 response to lipopolysaccharide GO:0032496 9.46 SELE SELP THBD VCAM1
8 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.43 SELE SELP VCAM1
9 homocysteine metabolic process GO:0050667 9.4 CBS MTHFR
10 leukocyte cell-cell adhesion GO:0007159 9.13 SELE SELP VCAM1
11 leukocyte tethering or rolling GO:0050901 8.8 SELE SELP VCAM1

Molecular functions related to Grange Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oligosaccharide binding GO:0070492 9.16 SELE SELP
2 sialic acid binding GO:0033691 8.96 SELE SELP
3 modified amino acid binding GO:0072341 8.62 CBS MTHFR

Sources for Grange Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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