HANAC
MCID: ANG060
MIFTS: 44

Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps (HANAC)

Categories: Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle...

MalaCards integrated aliases for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps:

Name: Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 57 29 6 39 70
Hanac Syndrome 20 43 58
Hanac 57 43 72
Autosomal Dominant Familial Hematuria-Retinal Arteriolar Tortuosity-Contractures Syndrome 20 58
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Syndrome 20 43
Hereditary Angiopathy-Nephropathy-Aneurysms-Muscle Cramps Syndrome 20 58
Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures 43
Hereditary Angiopathy with Nephropathy, Aneurysm, and Muscle Cramps Syndrome 43
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps 36
Hereditary Angiopathy with Nephropathy Aneurysms and Muscle Cramps 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases


External Ids:

OMIM® 57 611773
KEGG 36 H00579
ICD10 via Orphanet 33 I99
UMLS via Orphanet 71 C2673195
Orphanet 58 ORPHA73229
MedGen 41 C2673195
UMLS 70 C2673195

Summaries for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle...

MedlinePlus Genetics : 43 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. HANAC syndrome is characterized by angiopathy, which is a disorder of the blood vessels. In people with HANAC syndrome, angiopathy affects several parts of the body. The blood vessels as well as thin sheet-like structures called basement membranes that separate and support cells are weakened and more susceptible to breakage.People with HANAC syndrome develop kidney disease (nephropathy). Fragile or damaged blood vessels or basement membranes in the kidneys can lead to blood in the urine (hematuria). Cysts can also form in one or both kidneys, and the cysts may grow larger over time.Compared to other COL4A1-related disorders, the brain is only mildly affected in HANAC syndrome. People with this condition may have a bulge in one or multiple blood vessels in the brain (intracranial aneurysms). These aneurysms have the potential to burst, causing bleeding within the brain (hemorrhagic stroke). However, in people with HANAC syndrome, these aneurysms typically do not burst. About half of people with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).Muscle cramps experienced by most people with HANAC syndrome typically begin in early childhood. Any muscle may be affected, and cramps usually last from a few seconds to a few minutes, although in some cases they can last for several hours. Muscle cramps can be spontaneous or triggered by exercise.Individuals with HANAC syndrome also experience a variety of eye problems. All individuals with this condition have arteries that twist and turn abnormally within the light-sensitive tissue at the back of the eyes (arterial retinal tortuosity). This blood vessel abnormality can cause episodes of bleeding within the eyes following any minor trauma to the eyes, leading to temporary vision loss. Other eye problems associated with HANAC syndrome include a clouding of the lens of the eye (cataract) and an abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly is associated with various other eye abnormalities, including underdevelopment and eventual tearing of the colored part of the eye (iris), and a pupil that is not in the center of the eye.Rarely, affected individuals will have a condition called Raynaud phenomenon in which the blood vessels in the fingers and toes temporarily narrow, restricting blood flow to the fingertips and the ends of the toes. As a result, the skin around the affected area may turn white or blue for a brief period of time and the area may tingle or throb. Raynaud phenomenon is typically triggered by changes in temperature and usually causes no long term damage.

MalaCards based summary : Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps, also known as hanac syndrome, is related to porencephaly and retinal arteries, tortuosity of, and has symptoms including muscle cramp An important gene associated with Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. Affiliated tissues include eye, brain and smooth muscle, and related phenotypes are renal insufficiency and multiple renal cysts

GARD : 20 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is a genetic condition that causes blood vessels to become fragile. Signs and symptoms include muscle cramps, Raynaud phenomenon, kidney cysts, blood in the urine (typically not visible to the eye), leukoencephalopathy (a change in brain tissue that can be seen on MRI ), arteries in the back of the eye that twist and turn abnormally, headaches, and supraventricular arrhythmia. These signs and symptoms do not often cause serious complications, however temporary vision loss due to bleeding in the back of the eye, minor ischemic stroke, and bleeding complications with blood thinner use has been described. While muscle cramps may begin in childhood, many of the other symptoms do not appear until later in life. HANAC syndrome is caused by mutations in the COL4A1 gene. It is passed through families in a autosomal dominant fashion.

KEGG : 36 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) is a syndrome that is linked to the missense mutations in the COL4A1 in basement membranes. The renal manifestations include hematuria and bilateral renal cysts. In affected individuals, retinal arteriolar tortuosity and intracranial aneurysms are commonly observed.

UniProtKB/Swiss-Prot : 72 Hereditary angiopathy with nephropathy aneurysms and muscle cramps: The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries.

More information from OMIM: 611773

Related Diseases for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle...

Graphical network of the top 20 diseases related to Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps:



Diseases related to Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps

Symptoms & Phenotypes for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle...

Human phenotypes related to Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0000083
2 multiple renal cysts 58 31 hallmark (90%) Very frequent (99-80%) HP:0005562
3 muscle spasm 58 31 hallmark (90%) Very frequent (99-80%) HP:0003394
4 retinal vascular tortuosity 58 31 hallmark (90%) Very frequent (99-80%) HP:0012841
5 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
6 stroke 31 occasional (7.5%) HP:0001297
7 nephropathy 31 HP:0000112
8 supraventricular arrhythmia 31 HP:0005115
9 retinal arteriolar tortuosity 31 HP:0001136
10 leukoencephalopathy 31 HP:0002352
11 retinal hemorrhage 31 HP:0000573
12 renal cyst 31 HP:0000107
13 raynaud phenomenon 31 HP:0030880
14 dilatation of the cerebral artery 31 HP:0004944

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
retinal arteriolar tortuosity
retinal hemorrhage

Muscle Soft Tissue:
muscle cramps

Cardiovascular Heart:
arrhythmias, supraventricular

Skin Nails Hair Nails:
capillary tortuosity in nail beds

Laboratory Abnormalities:
creatine kinase, serum, elevated
glomerular filtration rate, decreased

Cardiovascular Vascular:
raynaud phenomenon
aneurysms of right internal carotid artery, intracranial segment
aneurysm of right middle cerebral artery, horizontal segment

Genitourinary Kidneys:
renal cysts
hematuria, microscopic
hematuria, gross (in some patients)
renal failure, mild
basement membrane alterations in bowman capsule, tubules, and interstitial capillaries, with irregular thickening, splitting into multiple layers, and electron-lucent areas
more
Skin Nails Hair Skin Electron Microscopy:
basement membrane duplications at dermoepidermal junction
dermal arteriole dissociation in vascular smooth muscle cells
basement membrane abnormally spread in vascular smooth muscle cells

Neurologic Central Nervous System:
leukoencephalopathy, periventricular
microvascular spaces, dilated
cerebrovascular accident (in some patients)

Clinical features from OMIM®:

611773 (Updated 20-May-2021)

UMLS symptoms related to Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps:


muscle cramp

Drugs & Therapeutics for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle...

Search Clinical Trials , NIH Clinical Center for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps

Genetic Tests for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle...

Genetic tests related to Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps:

# Genetic test Affiliating Genes
1 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 29 COL4A1

Anatomical Context for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle...

MalaCards organs/tissues related to Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps:

40
Eye, Brain, Smooth Muscle, Kidney, Skeletal Muscle

Publications for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle...

Articles related to Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps:

(show all 34)
# Title Authors PMID Year
1
Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. 6 57 61
20818663 2010
2
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. 61 6 57
18160688 2007
3
Familial retinal arterial tortuosity associated with tortuosity in nail bed capillaries. 6 57
17030722 2006
4
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. 6 61
25228067 2014
5
Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume. 57 61
20056676 2010
6
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. 57 61
19949034 2009
7
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
8
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. 57
25719457 2015
9
Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. 57
17317786 2007
10
Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome. 57
15882279 2005
11
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. 57
15905400 2005
12
Hereditary Angiopathy With Nephropathy, Aneurysm, and Muscle Cramps (HANAC) Syndrome Presenting to Neuro-Ophthalmology With Metamorphopsia. 61
31453918 2019
13
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. 61
31230195 2019
14
[Clinical features and COL4A1 genotype of a toddler with hereditary angiopathy with nephropathy, aneurysms and muscle cramps syndrome]. 61
31416498 2019
15
The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations. 61
29395486 2018
16
An unusual phenocopy of the HANAC syndrome without genetic involvement of COL4A1/COL4A2. 61
29423873 2018
17
Col4a1 mutation generates vascular abnormalities correlated with neuronal damage in a mouse model of HANAC syndrome. 61
28057519 2017
18
HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect. 61
28056338 2017
19
A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen. 61
27190376 2016
20
HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease. 61
26260163 2016
21
Drosophila type IV collagen mutation associates with immune system activation and intestinal dysfunction. 61
26363084 2016
22
[Retinal arteriolar tortuosity in a patient with HANAC syndrome (dominant hereditary angiopathy with nephropathy, aneurysms and muscle cramps)]. 61
26525594 2016
23
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 61
25873210 2015
24
Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation. 61
25425218 2015
25
How benign is hematuria? Using genetics to predict prognosis. 61
23325022 2013
26
COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage. 61
22522439 2012
27
Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. 61
21157337 2011
28
Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes. 61
21280145 2011
29
Genetic disorders of glomerular basement membranes. 61
21071975 2011
30
Glomerular basement membrane disorders in experimental models for renal diseases: impact on understanding pathogenesis and improving diagnosis. 61
21252518 2011
31
COL4A1-Related Disorders 61
20301768 2009
32
[HANAC syndrome (hereditary angiopathy with nephropathy, aneurysms and muscle cramps) and mutations of the collagen 4A1 gene: a new basement membrane hereditary pathology with multisystemic expression]. 61
18818132 2008
33
[Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene]. 61
19238787 2008
34
[Technical data on the Kurschner-Hanac method of determining cellulose in flours and derivatives, modified by Bellucci]. 61
14813505 1950

Variations for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle...

ClinVar genetic disease variations for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps:

6 (show top 50) (show all 196)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL4A1 NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val) SNV Pathogenic 17418 rs113994104 GRCh37: 13:110844604-110844604
GRCh38: 13:110192257-110192257
2 COL4A1 NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg) SNV Pathogenic 17419 rs113994105 GRCh37: 13:110839658-110839658
GRCh38: 13:110187311-110187311
3 COL4A1 NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu) SNV Pathogenic 17420 rs113994106 GRCh37: 13:110839630-110839630
GRCh38: 13:110187283-110187283
4 COL4A1 NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg) SNV Pathogenic 18462 rs267606744 GRCh37: 13:110844605-110844605
GRCh38: 13:110192258-110192258
5 COL4A1 NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg) SNV Pathogenic 18463 rs267606743 GRCh37: 13:110844569-110844569
GRCh38: 13:110192222-110192222
6 COL4A1 NM_001845.6(COL4A1):c.1573_1574delinsTT (p.Gly525Leu) Indel Pathogenic 18464 rs281865426 GRCh37: 13:110839639-110839640
GRCh38: 13:110187292-110187293
7 COL4A1 NM_001845.6(COL4A1):c.921dup (p.Gly308fs) Duplication Pathogenic 807560 rs1594579579 GRCh37: 13:110857735-110857736
GRCh38: 13:110205388-110205389
8 COL4A1 NM_001845.6(COL4A1):c.1937del (p.Gly646fs) Deletion Pathogenic 974459 GRCh37: 13:110835584-110835584
GRCh38: 13:110183237-110183237
9 COL4A1 NM_001845.6(COL4A1):c.3112G>A (p.Gly1038Ser) SNV Pathogenic 974460 GRCh37: 13:110827651-110827651
GRCh38: 13:110175304-110175304
10 COL4A1 NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) SNV Pathogenic 389182 rs1057523354 GRCh37: 13:110831734-110831734
GRCh38: 13:110179387-110179387
11 COL4A1 NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) SNV Pathogenic 161974 rs672601346 GRCh37: 13:110831699-110831699
GRCh38: 13:110179352-110179352
12 COL4A1 NM_001845.6(COL4A1):c.4151G>A (p.Gly1384Asp) SNV Likely pathogenic 974461 GRCh37: 13:110815908-110815908
GRCh38: 13:110163561-110163561
13 COL4A1 NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) SNV Likely pathogenic 522668 rs747585517 GRCh37: 13:110838822-110838822
GRCh38: 13:110186475-110186475
14 COL4A1 NM_001845.6(COL4A1):c.1438G>A (p.Gly480Arg) SNV Likely pathogenic 627579 rs1461754052 GRCh37: 13:110845204-110845204
GRCh38: 13:110192857-110192857
15 COL4A1 NM_001845.6(COL4A1):c.1834G>C (p.Gly612Arg) SNV Likely pathogenic 803000 rs1594560766 GRCh37: 13:110838795-110838795
GRCh38: 13:110186448-110186448
16 COL4A1 NM_001845.6(COL4A1):c.3068G>C (p.Gly1023Ala) SNV Likely pathogenic 975100 GRCh37: 13:110827695-110827695
GRCh38: 13:110175348-110175348
17 COL4A1 NM_001845.6(COL4A1):c.1793G>T (p.Gly598Val) SNV Likely pathogenic 974458 GRCh37: 13:110838836-110838836
GRCh38: 13:110186489-110186489
18 COL4A1 NM_001845.6(COL4A1):c.2262C>T (p.Pro754=) SNV Uncertain significance 311054 rs750538499 GRCh37: 13:110831700-110831700
GRCh38: 13:110179353-110179353
19 COL4A1 NM_001845.6(COL4A1):c.2095+7C>G SNV Uncertain significance 311059 rs886049961 GRCh37: 13:110835333-110835333
GRCh38: 13:110182986-110182986
20 COL4A1 NM_001845.6(COL4A1):c.*1099G>A SNV Uncertain significance 311003 rs193065628 GRCh37: 13:110801611-110801611
GRCh38: 13:110149264-110149264
21 COL4A1 NM_001845.6(COL4A1):c.3742+14G>A SNV Uncertain significance 311035 rs377503687 GRCh37: 13:110822880-110822880
GRCh38: 13:110170533-110170533
22 COL4A1 NM_001845.6(COL4A1):c.2344+11G>A SNV Uncertain significance 311053 rs886049960 GRCh37: 13:110831607-110831607
GRCh38: 13:110179260-110179260
23 COL4A1 NM_001845.6(COL4A1):c.*1039A>G SNV Uncertain significance 311004 rs776016334 GRCh37: 13:110801671-110801671
GRCh38: 13:110149324-110149324
24 COL4A1 NM_001845.6(COL4A1):c.-71C>G SNV Uncertain significance 311086 rs867117624 GRCh37: 13:110959445-110959445
GRCh38: 13:110307098-110307098
25 COL4A1 NM_001845.6(COL4A1):c.*6C>G SNV Uncertain significance 311018 rs762512053 GRCh37: 13:110802704-110802704
GRCh38: 13:110150357-110150357
26 COL4A1 NM_001845.6(COL4A1):c.*137G>A SNV Uncertain significance 311017 rs886049956 GRCh37: 13:110802573-110802573
GRCh38: 13:110150226-110150226
27 COL4A1 NM_001845.6(COL4A1):c.1453C>G (p.Pro485Ala) SNV Uncertain significance 813669 GRCh37: 13:110845189-110845189
GRCh38: 13:110192842-110192842
28 COL4A1 NM_001845.6(COL4A1):c.3406G>A (p.Gly1136Ser) SNV Uncertain significance 1027963 GRCh37: 13:110826793-110826793
GRCh38: 13:110174446-110174446
29 COL4A1 NM_001845.6(COL4A1):c.1717A>C (p.Lys573Gln) SNV Uncertain significance 1032008 GRCh37: 13:110839496-110839496
GRCh38: 13:110187149-110187149
30 COL4A1 NM_001845.6(COL4A1):c.*265A>G SNV Uncertain significance 311015 rs555157539 GRCh37: 13:110802445-110802445
GRCh38: 13:110150098-110150098
31 COL4A1 NM_001845.6(COL4A1):c.*634_*635AT[8] Microsatellite Uncertain significance 311009 rs886049952 GRCh37: 13:110802062-110802063
GRCh38: 13:110149715-110149716
32 COL4A1 NM_001845.6(COL4A1):c.380G>T (p.Gly127Val) SNV Uncertain significance 311080 rs886049963 GRCh37: 13:110864771-110864771
GRCh38: 13:110212424-110212424
33 COL4A1 NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala) SNV Uncertain significance 880572 GRCh37: 13:110815893-110815893
GRCh38: 13:110163546-110163546
34 COL4A1 NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg) SNV Uncertain significance 880784 GRCh37: 13:110830443-110830443
GRCh38: 13:110178096-110178096
35 COL4A1 NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) SNV Uncertain significance 585510 rs531373470 GRCh37: 13:110853813-110853813
GRCh38: 13:110201466-110201466
36 COL4A1 NM_001845.6(COL4A1):c.354C>T (p.Gly118=) SNV Uncertain significance 881017 GRCh37: 13:110864797-110864797
GRCh38: 13:110212450-110212450
37 COL4A1 NM_001845.6(COL4A1):c.-101G>T SNV Uncertain significance 881060 GRCh37: 13:110959475-110959475
GRCh38: 13:110307128-110307128
38 COL4A1 NM_001845.6(COL4A1):c.*995C>T SNV Uncertain significance 881414 GRCh37: 13:110801715-110801715
GRCh38: 13:110149368-110149368
39 COL4A1 NM_001845.6(COL4A1):c.*952A>G SNV Uncertain significance 881849 GRCh37: 13:110801758-110801758
GRCh38: 13:110149411-110149411
40 COL4A1 NM_001845.6(COL4A1):c.2492C>T (p.Pro831Leu) SNV Uncertain significance 880786 GRCh37: 13:110830545-110830545
GRCh38: 13:110178198-110178198
41 COL4A1 NM_001845.6(COL4A1):c.4928A>G (p.Lys1643Arg) SNV Uncertain significance 881914 GRCh37: 13:110804681-110804681
GRCh38: 13:110152334-110152334
42 COL4A1 NM_001845.6(COL4A1):c.*510A>G SNV Uncertain significance 311013 rs886049954 GRCh37: 13:110802200-110802200
GRCh38: 13:110149853-110149853
43 COL4A1 NM_001845.6(COL4A1):c.*531T>A SNV Uncertain significance 311012 rs886049953 GRCh37: 13:110802179-110802179
GRCh38: 13:110149832-110149832
44 COL4A1 NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu) SNV Uncertain significance 311049 rs778143775 GRCh37: 13:110829369-110829369
GRCh38: 13:110177022-110177022
45 COL4A1 NM_001845.6(COL4A1):c.2706G>A (p.Pro902=) SNV Uncertain significance 311050 rs754208625 GRCh37: 13:110830199-110830199
GRCh38: 13:110177852-110177852
46 COL4A1 NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) SNV Uncertain significance 447160 rs375318302 GRCh37: 13:110835342-110835342
GRCh38: 13:110182995-110182995
47 COL4A1 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) SNV Uncertain significance 195868 rs145172612 GRCh37: 13:110839625-110839625
GRCh38: 13:110187278-110187278
48 COL4A1 NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) SNV Uncertain significance 289628 rs751749989 GRCh37: 13:110959368-110959368
GRCh38: 13:110307021-110307021
49 COL4A1 NM_001845.6(COL4A1):c.3557-14T>C SNV Uncertain significance 311037 rs886049957 GRCh37: 13:110823093-110823093
GRCh38: 13:110170746-110170746
50 COL4A1 NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) SNV Uncertain significance 311056 rs150129180 GRCh37: 13:110833706-110833706
GRCh38: 13:110181359-110181359

UniProtKB/Swiss-Prot genetic disease variations for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps:

72
# Symbol AA change Variation ID SNP ID
1 COL4A1 p.Gly498Val VAR_044159 rs113994104
2 COL4A1 p.Gly519Arg VAR_044160 rs113994105
3 COL4A1 p.Gly528Glu VAR_044161 rs113994106
4 COL4A1 p.Gly498Arg VAR_064493 rs267606744
5 COL4A1 p.Gly510Arg VAR_064494 rs267606743
6 COL4A1 p.Gly525Leu VAR_064495 rs281865426

Expression for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle...

Search GEO for disease gene expression data for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps.

Pathways for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle...

Pathways related to Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps according to KEGG:

36
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

Pathways related to Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 COL4A2 COL4A1
2
Show member pathways
12.34 COL4A2 COL4A1
3
Show member pathways
12.28 COL4A2 COL4A1
4 12.26 COL4A2 COL4A1
5
Show member pathways
12.18 COL4A2 COL4A1
6
Show member pathways
12.07 COL4A2 COL4A1
7
Show member pathways
11.69 COL4A2 COL4A1
8
Show member pathways
11.49 COL4A2 COL4A1
9 11.47 COL4A2 COL4A1
10 11.43 COL4A2 COL4A1
11 11.37 COL4A2 COL4A1
12 11.15 COL4A2 COL4A1
13 11.03 COL4A2 COL4A1
14 10.95 COL4A2 COL4A1
15 10.79 COL4A2 COL4A1
16 10.56 COL4A2 COL4A1
17 10.46 COL4A2 COL4A1
18 10.19 COL4A2 COL4A1

GO Terms for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle...

Cellular components related to Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.37 COL4A2 COL4A1
2 endoplasmic reticulum lumen GO:0005788 9.32 COL4A2 COL4A1
3 extracellular matrix GO:0031012 9.26 COL4A2 COL4A1
4 basement membrane GO:0005604 9.16 COL4A2 COL4A1
5 collagen trimer GO:0005581 8.96 COL4A2 COL4A1
6 collagen type IV trimer GO:0005587 8.62 COL4A2 COL4A1

Biological processes related to Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.16 COL4A2 COL4A1
2 angiogenesis GO:0001525 8.96 COL4A2 COL4A1
3 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.62 COL4A2 COL4A1

Molecular functions related to Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL4A2 COL4A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL4A2 COL4A1

Sources for Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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