GRNG
MCID: GRN034
MIFTS: 36

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 56 25 58 73 36 29 6
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 56 25 73 71
Grange Occlusive Arterial Syndrome 56 25 58 73
Grng 56 25 73
Progressive Arterial Occlusive Disease-Hypertension-Heart Defects-Bone Fragility-Brachysyndactyly Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
grange syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
grange syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


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. Additional features of Grange syndrome can include short fingers and toes (brachydactyly), fusion of some of the fingers or toes (syndactyly), fragile bones that are prone to breakage, and learning disabilities. Most people with this disorder also have heart defects that are present from birth.

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 learning disability. 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 bone, heart and brain, and related phenotypes are specific learning disability and arterial stenosis

KEGG : 36 Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. It has been reported that mutations in YY1AP1 lead to Grange syndrome.

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 602531

Related Diseases for Grange Syndrome

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 fibromuscular dysplasia 28.9 YY1AP1 YY1 INO80
2 learning disability 10.5
3 chromosome 2q35 duplication syndrome 10.4
4 brachydactyly 10.4
5 arterial calcification of infancy 10.3
6 vascular disease 10.3
7 moyamoya disease 1 10.1
8 stroke, ischemic 10.1
9 renovascular hypertension 10.1
10 gastritis 10.1
11 floating-harbor syndrome 9.2 YY1AP1 INO80

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



Diseases related to Grange Syndrome

Symptoms & Phenotypes for Grange Syndrome

Human phenotypes related to Grange Syndrome:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
2 arterial stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100545
3 intellectual disability, borderline 58 31 hallmark (90%) Very frequent (99-80%) HP:0006889
4 increased susceptibility to fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002659
5 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
6 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
7 aortic regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001659
8 syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001159
9 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
10 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
11 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
12 coronary artery stenosis 31 occasional (7.5%) HP:0005145
13 intellectual disability 31 HP:0001249
14 brachydactyly 31 HP:0001156
15 recurrent fractures 31 HP:0002757
16 renovascular hypertension 31 HP:0100817
17 decreased body weight 31 HP:0004325
18 renal artery stenosis 31 HP:0001920
19 finger clinodactyly 31 HP:0040019
20 carotid artery stenosis 31 HP:0100546

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Grange Syndrome

Search Clinical Trials , NIH Clinical Center for Grange Syndrome

Genetic Tests for Grange Syndrome

Genetic tests related to Grange Syndrome:

# Genetic test Affiliating Genes
1 Grange Syndrome 29 YY1AP1

Anatomical Context for Grange Syndrome

MalaCards organs/tissues related to Grange Syndrome:

40
Bone, Heart, Brain, Kidney

Publications for Grange Syndrome

Articles related to Grange Syndrome:

(show all 12)
# Title Authors PMID Year
1
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. 6 56 61
27939641 2017
2
A new case of Grange syndrome without cardiac findings. 56 61 6
16691574 2006
3
Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome? 61 56 6
11241488 2001
4
Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. 6 56
9489789 1998
5
Schottky Barrier Variable Graphene/Multilayer-MoS2 Heterojunction Transistor Used to Overcome Short Channel Effects. 61
31855598 2020
6
Grange syndrome due to homozygous YY1AP1 missense rare variants. 61
31633303 2019
7
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1. 61
31270375 2019
8
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. 61
30556293 2019
9
Biological function analysis of monoclonal antibodies against human granulins in vitro using U251 cells as a model. 61
27693922 2017
10
Mixed-grass prairie canopy structure and spectral reflectance vary with topographic position. 61
22961614 2012
11
Grange syndrome: an identifiable cause of stroke in young adults. 61
22987684 2012
12
Vasculitis mimics. 61
18281854 2008

Variations for Grange Syndrome

ClinVar genetic disease variations for Grange Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 YY1AP1 NM_001198903.1(YY1AP1):c.826-1G>ASNV Pathogenic 523660 rs199653824 1:155642523-155642523 1:155672732-155672732
2 YY1AP1 NM_001198903.1(YY1AP1):c.997+23T>GSNV Pathogenic 523661 rs1558307853 1:155642328-155642328 1:155672537-155672537
3 YY1AP1 NM_001198903.1(YY1AP1):c.724C>T (p.Gln242Ter)SNV Pathogenic 375638 rs749232831 1:155646353-155646353 1:155676562-155676562
4 YY1AP1 NM_001198903.1(YY1AP1):c.2390T>A (p.Leu797Ter)SNV Pathogenic 375639 rs1057519597 1:155629725-155629725 1:155659934-155659934
5 YY1AP1 NM_001198906.2(YY1AP1):c.*930G>TSNV Pathogenic 375640 rs1057519598 1:155629714-155629714 1:155659923-155659923
6 YY1AP1 NM_001198906.2(YY1AP1):c.*428_*431TCTG[1]short repeat Pathogenic 375641 rs759089960 1:155630209-155630212 1:155660418-155660421
7 YY1AP1 NM_018253.3(YY1AP1):c.217C>T (p.Gln73Ter)SNV Pathogenic 375642 rs1057519599 1:155646413-155646413 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 YY1AP1 YY1 INO80

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.37 YY1 INO80
2 DNA repair GO:0006281 9.32 YY1 INO80
3 protein deubiquitination GO:0016579 9.26 YY1 INO80
4 DNA recombination GO:0006310 9.16 YY1 INO80
5 double-strand break repair via homologous recombination GO:0000724 8.96 YY1 INO80
6 cellular response to UV GO:0034644 8.62 YY1 INO80

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 YY1AP1 YY1

Sources for Grange Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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