Thyrocerebrorenal syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Cutler-Bass-Romshe syndrome
Number of Symptoms 22
OrphanetNr: 3327
OMIM Id: 274240
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency Very frequent [Orphanet] 232 / 7739
2
 (HPO:0000123) Nephritis 18 / 7739
3
 (HPO:0000124) Renal tubular dysfunction Very frequent [Orphanet] 46 / 7739
4
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
5
 (HPO:0001336) Myoclonus 115 / 7739
6
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
7
 (HPO:0001350) Slurred speech 16 / 7739
8
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
9
 (HPO:0001251) Ataxia 413 / 7739
10
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
11
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
12
 (HPO:0000853) Goiter 39 / 7739
13
 (HPO:0000820) Abnormality of the thyroid gland Very frequent [Orphanet] 19 / 7739
14
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
15
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
16
 (HPO:0002149) Hyperuricemia Very frequent [Orphanet] 37 / 7739
17
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
20
 (OMIM) Simple colloid goiter 1 / 7739
21
 (OMIM) Normal mentality 1 / 7739
22
 (OMIM) Chronic renal disease 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: