MCID: GRN034
MIFTS: 33

Grange Syndrome

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

Aliases & Classifications for Grange Syndrome

MalaCards integrated aliases for Grange Syndrome:

Name: Grange Syndrome 53 24 55 71
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 53 24 71 69
Grange Occlusive Arterial Syndrome 53 24 55 71
Grng 53 24 71
Progressive Arterial Occlusive Disease-Hypertension-Heart Defects-Bone Fragility-Brachysyndactyly Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
grange syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
grange syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Grange Syndrome

Genetics Home Reference : 24 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 fibromuscular dysplasia and vascular disease, and has symptoms including hypertension, patent ductus arteriosus and short palm. An important gene associated with Grange Syndrome is YY1AP1 (YY1 Associated Protein 1), and among its related pathways/superpathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Deubiquitination. Affiliated tissues include heart, bone and brain.

UniProtKB/Swiss-Prot : 71 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:

# Related Disease Score Top Affiliating Genes
1 fibromuscular dysplasia 28.2 INO80 YY1 YY1AP1
2 vascular disease 9.9

Symptoms & Phenotypes for Grange Syndrome

Symptoms via clinical synopsis from OMIM:

53
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:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0000822
2 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
3 short palm 55 31 frequent (33%) Frequent (79-30%) HP:0004279
4 specific learning disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001328
5 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
6 arterial stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100545
7 intellectual disability, borderline 55 31 hallmark (90%) Very frequent (99-80%) HP:0006889
8 aortic regurgitation 55 31 frequent (33%) Frequent (79-30%) HP:0001659
9 increased susceptibility to fractures 55 31 hallmark (90%) Very frequent (99-80%) HP:0002659
10 syndactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001159
11 intellectual disability 31 HP:0001249
12 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
13 brachydactyly 31 HP:0001156
14 recurrent fractures 31 HP:0002757
15 renovascular hypertension 31 HP:0100817
16 decreased body weight 31 HP:0004325
17 renal artery stenosis 31 HP:0001920
18 coronary artery stenosis 31 occasional (7.5%) HP:0005145

Drugs & Therapeutics for Grange Syndrome

Search Clinical Trials , NIH Clinical Center for Grange Syndrome

Genetic Tests for Grange Syndrome

Anatomical Context for Grange Syndrome

MalaCards organs/tissues related to Grange Syndrome:

38
Heart, Bone, Brain, Kidney

Publications for Grange Syndrome

Articles related to Grange Syndrome:

# Title Authors Year
1
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. ( 27939641 )
2017
2
Grange syndrome: an identifiable cause of stroke in young adults. ( 22987684 )
2012
3
A new case of Grange syndrome without cardiac findings. ( 16691574 )
2006
4
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.2390T> A (p.Leu797Ter) single nucleotide variant Pathogenic rs1057519597 GRCh37 Chromosome 1, 155629725: 155629725
2 YY1AP1 NM_001198903.1(YY1AP1): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic rs749232831 GRCh38 Chromosome 1, 155676562: 155676562
3 YY1AP1 NM_001198903.1(YY1AP1): c.2401G> T (p.Glu801Ter) single nucleotide variant Pathogenic rs1057519598 GRCh38 Chromosome 1, 155659923: 155659923
4 YY1AP1 NM_001198903.1(YY1AP1): c.1903_1906delTCTG (p.Glu636Profs) deletion Pathogenic rs759089960 GRCh37 Chromosome 1, 155630209: 155630212
5 YY1AP1 NM_001198903.1(YY1AP1): c.664C> T (p.Gln222Ter) single nucleotide variant Pathogenic rs1057519599 GRCh38 Chromosome 1, 155676622: 155676622

Expression for Grange Syndrome

Search GEO for disease gene expression data for Grange Syndrome.

Pathways for Grange Syndrome

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 Ino80 complex GO:0031011 8.8 INO80 YY1 YY1AP1

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

# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.54 INO80 YY1 YY1AP1
2 cellular response to DNA damage stimulus GO:0006974 9.4 INO80 YY1
3 DNA repair GO:0006281 9.32 INO80 YY1
4 protein deubiquitination GO:0016579 9.26 INO80 YY1
5 DNA recombination GO:0006310 9.16 INO80 YY1
6 double-strand break repair via homologous recombination GO:0000724 8.96 INO80 YY1
7 cellular response to UV GO:0034644 8.62 INO80 YY1

Sources for Grange Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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