MCID: GRN034
MIFTS: 32

Grange Syndrome

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

Aliases & Classifications for Grange Syndrome

MalaCards integrated aliases for Grange Syndrome:

Name: Grange Syndrome 57 25 59 75 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

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 fibromuscular dysplasia and vascular disease. 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, 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:

# Related Disease Score Top Affiliating Genes
1 fibromuscular dysplasia 27.2 INO80 YY1 YY1AP1
2 vascular disease 9.9

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 18)
# 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 renal artery stenosis 32 HP:0001920
18 coronary artery stenosis 32 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:

41
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.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

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

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

# Name GO ID Score Top Affiliating Genes
1 transcription corepressor activity GO:0003714 8.62 YY1 YY1AP1

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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