MCID: VSC014
MIFTS: 20

Vascular Hyalinosis

Categories: Bone diseases, Cardiovascular diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Vascular Hyalinosis

MalaCards integrated aliases for Vascular Hyalinosis:

Name: Vascular Hyalinosis 56 52 71
Digestive Tract and Renal Small Vessel Hyalinosis, Intracerebral Calcifications, Retinal Ischemic Syndrome and Phenotypic a 52
Retinal Ischemic Syndrome-Digestive Tract Small Vessel Hyalinosis-Diffuse Cerebral Calcifications Syndrome 58
Rambaud-Gallian-Touchard Syndrome 58
Rambaud-Gallian Syndrome 58

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
vascular hyalinosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

OMIM 56 277175
MESH via Orphanet 44 C535283
ICD10 via Orphanet 33 E78.8
UMLS via Orphanet 72 C2930864
Orphanet 58 ORPHA3018
MedGen 41 C1848590
UMLS 71 C1848590

Summaries for Vascular Hyalinosis

MalaCards based summary : Vascular Hyalinosis, is also known as digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a, and has symptoms including diarrhea Affiliated tissues include brain, bone and kidney, and related phenotypes are cerebral calcification and malabsorption

More information from OMIM: 277175

Related Diseases for Vascular Hyalinosis

Symptoms & Phenotypes for Vascular Hyalinosis

Human phenotypes related to Vascular Hyalinosis:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cerebral calcification 31 HP:0002514
2 malabsorption 31 HP:0002024
3 premature graying of hair 31 HP:0002216
4 hematochezia 31 HP:0002573
5 subarachnoid hemorrhage 31 HP:0002138
6 protein-losing enteropathy 31 HP:0002243
7 poikiloderma 31 HP:0001029
8 dilatation 31 HP:0002617
9 chorioretinal scar 31 HP:0007777

Symptoms via clinical synopsis from OMIM:

56
G I:
malabsorption
diarrhea
protein-losing enteropathy
rectal bleeding

Skin:
poikiloderma

Hair:
early graying

Lab:
em shows concentric layers of basement membrane-like deposits in intestinal capillaries, and subepithelial and mesangial spaces of the kidneys

Vascular:
subarachnoid hemorrhage
progressive vascular hyalinosis
sylvian aneurysm

Neuro:
brain calcification

Eyes:
peripheral retinal ischemic changes
chorioretinal scars

Clinical features from OMIM:

277175

UMLS symptoms related to Vascular Hyalinosis:


diarrhea

Drugs & Therapeutics for Vascular Hyalinosis

Search Clinical Trials , NIH Clinical Center for Vascular Hyalinosis

Genetic Tests for Vascular Hyalinosis

Anatomical Context for Vascular Hyalinosis

MalaCards organs/tissues related to Vascular Hyalinosis:

40
Brain, Bone, Kidney

Publications for Vascular Hyalinosis

Articles related to Vascular Hyalinosis:

(show all 20)
# Title Authors PMID Year
1
Digestive tract and renal small vessel hyalinosis, idiopathic nonarteriosclerotic intracerebral calcifications, retinal ischemic syndrome, and phenotypic abnormalities. A new familial syndrome. 56
3485063 1986
2
Histological grading in primary membranous nephropathy is essential for clinical management and predicts outcome of patients. 61
31318463 2019
3
Collapsing glomerulopathy superimposed on diabetic nephropathy: insights into etiology of an under-recognized, severe pattern of glomerular injury. 61
24081860 2014
4
Diffuse glomerular nodular lesions in diabetic pigs carrying a dominant-negative mutant hepatocyte nuclear factor 1-alpha, an inheritant diabetic gene in humans. 61
24647409 2014
5
[Atypical magnetic resonance imaging vs pathological findings of leiomyoma in the female reproductive system]. 61
19246306 2009
6
Histological, immunohistochemical and biological data in assessing interstitial fibrosis in patients with chronic glomerulonephritis. 61
18155753 2008
7
Neuropathological alterations in drug abusers : The involvement of neurons, glial, and vascular systems. 61
25868590 2006
8
The 2,6-disubstituted naphthalene derivative FDDNP labeling reliably predicts Congo red birefringence of protein deposits in brain sections of selected human neurodegenerative diseases. 61
16768752 2006
9
The remission of nephrotic syndrome with cyclosporin treatment does not attenuate the progression of idiopathic membranous nephropathy. 61
14964453 2004
10
Histologic change of peritoneal membrane in relation to adequacy of dialysis in continuous ambulatory peritoneal dialysis patients. 61
17986552 2003
11
Histopathological findings in renal allografts at time of transplantation and correlation with onset of graft function. 61
10549592 1999
12
Secondary microvascular degeneration in amyloid angiopathy of patients with hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D). 61
9542588 1998
13
Light, immunofluorescence and electron microscopy renal biopsy findings as predictors of mortality in eighty-five Spanish patients with systemic lupus erythematosus. 61
8156289 1994
14
Lacunar infarctions due to cholesterol emboli. 61
1750055 1991
15
Is there a "point of no return" in progressive renal disease? 61
1751786 1991
16
IgA nephritis associated with plasminogen abnormalities. 61
2311307 1990
17
Epidemiology of idiopathic glomerular disease: a prospective study. 61
3626293 1987
18
Quantitative clinicopathologic study of cerebral amyloid angiopathy. 61
7462543 1981
19
[Vascular hyalinosis in diabetic microangiopathy]. 61
57768 1975
20
[Vascular hyalinosis of the brain]. 61
14787204 1950

Variations for Vascular Hyalinosis

Expression for Vascular Hyalinosis

Search GEO for disease gene expression data for Vascular Hyalinosis.

Pathways for Vascular Hyalinosis

GO Terms for Vascular Hyalinosis

Sources for Vascular Hyalinosis

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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