Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications

General Information (adopted from Orphanet):

Synonyms, Signs: Rambaud-Gallian-Touchard syndrome
Rambaud-Gallian syndrome
Number of Symptoms 30
OrphanetNr: 3018
OMIM Id: 277175
ICD-10:
UMLs: C2930864
MeSH: C535283
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare systemic disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000093) Proteinuria Very frequent [Orphanet] 169 / 7739
2
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
3
 (HPO:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
4
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
5
 (HPO:0008046) Abnormality of the retinal vasculature Very frequent [Orphanet] 41 / 7739
6
 (HPO:0007777) Chorioretinal scar 1 / 7739
7
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
8
 (HPO:0002514) Cerebral calcification Very frequent [Orphanet] 89 / 7739
9
 (HPO:0002243) Protein-losing enteropathy 8 / 7739
10
 (HPO:0002014) Diarrhea 225 / 7739
11
 (HPO:0002573) Hematochezia 18 / 7739
12
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
13
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
14
 (HPO:0100579) Mucosal telangiectasiae Very frequent [Orphanet] 10 / 7739
15
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
16
 (HPO:0002216) Premature graying of hair Very frequent [Orphanet] 43 / 7739
17
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
18
 (HPO:0001031) Subcutaneous lipoma Frequent [Orphanet] 112 / 7739
19
 (HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
20
 (HPO:0001029) Poikiloderma 23 / 7739
21
 (HPO:0002138) Subarachnoid hemorrhage 9 / 7739
22
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
23
 (HPO:0002617) Aneurysm Occasional [Orphanet] 34 / 7739
24
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
25
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
26
 (OMIM) EM shows concentric layers of basement membrane-like deposits in intestinal capillaries, and subepithelial and mesangial spaces of the kidneys 1 / 7739
27
 (OMIM) Peripheral retinal ischemic changes 1 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
 (OMIM) Progressive vascular hyalinosis 1 / 7739
30
 (OMIM) Sylvian aneurysm 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: