MCID: GRN034
MIFTS: 36

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 54 25 56 71
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 25 71 69
Grange Occlusive Arterial Syndrome 25 56 71
Grng 25 71
Progressive Arterial Occlusive Disease-Hypertension-Heart Defects-Bone Fragility-Brachysyndactyly Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
grange syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 54 602531
Orphanet 56 ORPHA79094
UMLS via Orphanet 70 C1865267
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1865267
MeSH 42 D001157

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 vascular disease and fibromuscular dysplasia, and has symptoms including patent ductus arteriosus, ventricular septal defect and hypertension. 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. The drugs Carboplatin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and kidney.

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:

id Related Disease Score Top Affiliating Genes
1 vascular disease 9.8
2 fibromuscular dysplasia 9.8
3 fibular aplasia ectrodactyly 8.6 INO80 YY1 YY1AP1

Symptoms & Phenotypes for Grange Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Feet:
brachydactyly
syndactyly

Skeletal:
bone fragility
reduced mineralization

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

Neurologic- Central Nervous System:
ischemic cerebrovascular disease (in some patients)
mental retardation, mild to moderate
hemorrhagic cerebrovascular disease (rare)

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

Growth- Weight:
low weight

Cardiovascular- Vascular:
occlusive arterial vascular disease
renovascular hypertension
beaded appearance of arteries (in some patients)
arterial aneurysms (in some patients)
hepatic artery stenosis (in some patients)
more
Skeletal- Limbs:
multiple fractures (with minimal trauma)


Clinical features from OMIM:

602531

Human phenotypes related to Grange Syndrome:

56 32 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
2 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
3 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
4 syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001159
5 aortic regurgitation 56 32 frequent (33%) Frequent (79-30%) HP:0001659
6 increased susceptibility to fractures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002659
7 short palm 56 32 frequent (33%) Frequent (79-30%) HP:0004279
8 specific learning disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001328
9 arterial stenosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100545
10 intellectual disability, borderline 56 32 hallmark (90%) Very frequent (99-80%) HP:0006889

Drugs & Therapeutics for Grange Syndrome

Drugs for Grange Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
2
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
3
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
4
Norepinephrine Approved Phase 3 51-41-2 439260
5
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
6
Temozolomide Approved, Investigational Phase 3 85622-93-1 5394
7
Bevacizumab Approved, Investigational Phase 3 216974-75-3
8
Fluorouracil Approved Phase 3 51-21-8 3385
9
Levoleucovorin Approved Phase 3 68538-85-2
10
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
12
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
13 Albumin-Bound Paclitaxel Phase 3
14 Antimitotic Agents Phase 3
15 Antineoplastic Agents, Phytogenic Phase 3
16 Analgesics Phase 3
17 Antidepressive Agents Phase 3
18 Dopamine Agents Phase 3
19 Duloxetine Hydrochloride Phase 3
20 Neurotransmitter Agents Phase 3
21 Neurotransmitter Uptake Inhibitors Phase 3
22 Peripheral Nervous System Agents Phase 3
23 Psychotropic Drugs Phase 3
24
Serotonin Phase 3 50-67-9 5202
25 Serotonin and Noradrenaline Reuptake Inhibitors Phase 3
26 Micronutrients Phase 3,Phase 2
27 Trace Elements Phase 3,Phase 2
28 Vitamin B Complex Phase 3,Phase 2
29 Vitamins Phase 3,Phase 2
30 Alkylating Agents Phase 3
31 Angiogenesis Inhibitors Phase 3
32 Angiogenesis Modulating Agents Phase 3
33 Antibodies Phase 3
34 Antibodies, Monoclonal Phase 3
35 Antidotes Phase 3
36 Antimetabolites Phase 3
37 Antimetabolites, Antineoplastic Phase 3
38 Bone Density Conservation Agents Phase 3
39 Calcium, Dietary Phase 3
40 Endothelial Growth Factors Phase 3
41 Hematinics Phase 3
42 Immunoglobulins Phase 3
43 Immunosuppressive Agents Phase 3
44 Mitogens Phase 3
45 Protective Agents Phase 3
46 Folate Nutraceutical Phase 3,Phase 2
47 Vitamin B9 Nutraceutical Phase 3,Phase 2
48 Cola Nutraceutical Phase 3
49
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
50
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Glutathione in Preventing Peripheral Neuropathy Caused by Paclitaxel and Carboplatin in Patients With Ovarian Cancer, Fallopian Tube Cancer, and/or Primary Peritoneal Cancer Completed NCT02311907 Phase 3 Carboplatin;Glutathione;Paclitaxel
2 Duloxetine in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer Completed NCT00489411 Phase 3 duloxetine hydrochloride
3 Radiation Therapy With or Without Temozolomide in Treating Patients With Low-Grade Glioma Recruiting NCT00978458 Phase 3 temozolomide
4 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer Active, not recruiting NCT00217737 Phase 3 Fluorouracil;Leucovorin Calcium;Oxaliplatin
5 AMG 706 and Octreotide in Treating Patients With Low-Grade Neuroendocrine Tumors Completed NCT00427349 Phase 2 AMG 706;octreotide
6 Correlation Between PTP1B Expression and Organ Failure During Sepsis Completed NCT02295514
7 Omega Loop Versus Roux-en-Y Gastric Bypass Active, not recruiting NCT02139813

Search NIH Clinical Center for Grange Syndrome

Genetic Tests for Grange Syndrome

Anatomical Context for Grange Syndrome

MalaCards organs/tissues related to Grange Syndrome:

39
Heart, Bone, Kidney, Brain, Colon, Endothelial

Publications for Grange Syndrome

Articles related to Grange Syndrome:

id 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
id 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.2390T> A (p.Leu797Ter) single nucleotide variant Pathogenic rs1057519597 GRCh38 Chromosome 1, 155659934: 155659934
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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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