Congenital rubella syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 31
OrphanetNr: 290
OMIM Id:
ICD-10: P35.0
UMLs: C0035921
MeSH: D012410
MedDRA: 10010618
Snomed: 1857005

Prevalence, inheritance and age of onset:

Prevalence: 0.29 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Infectious disease with epilepsy
 -Rare neurologic disease
Infectious embryofetopathy
 -Rare developmental defect during embryogenesis
 -Rare infectious disease

Symptom Information: Sort by abundance 

1
(HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
2
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
3
(HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
4
(HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
5
(HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
6
(HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
7
(HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
8
(HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
9
(HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
10
(HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
11
(HPO:0008053) Aplasia/Hypoplasia of the iris Frequent [Orphanet] 38 / 7739
12
(HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
13
(HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
14
(HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
15
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
16
(HPO:0100651) Type I diabetes mellitus Occasional [Orphanet] 44 / 7739
17
(HPO:0000944) Abnormality of the metaphyses Occasional [Orphanet] 141 / 7739
18
(HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
19
(HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
20
(HPO:0001396) Cholestasis Occasional [Orphanet] 136 / 7739
21
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
22
(HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
23
(HPO:0000988) Skin rash Frequent [Orphanet] 98 / 7739
24
(HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
25
(HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
26
(HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
27
(HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
28
(HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
29
(HPO:0001873) Thrombocytopenia Frequent [Orphanet] 224 / 7739
30
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
31
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: