PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRALDYSFUNCTION

General Information (adopted from Orphanet):

Synonyms, Signs: HERRMANN SYNDROME
Number of Symptoms 21
OrphanetNr:
OMIM Id: 172500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000112) Nephropathy 92 / 7739
2
(HPO:0000666) Horizontal nystagmus 32 / 7739
3
(HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
4
(HPO:0005102) Cochlear degeneration 5 / 7739
5
(HPO:0011153) Focal motor seizures 2 / 7739
6
(HPO:0000716) Depression 99 / 7739
7
(HPO:0001327) Photomyoclonic seizures 125 / 7739
8
(HPO:0007164) Slowed slurred speech 1 / 7739
9
(HPO:0001251) Ataxia 413 / 7739
10
(HPO:0001289) Confusion 36 / 7739
11
(HPO:0000751) Personality changes 33 / 7739
12
(HPO:0000819) Diabetes mellitus 131 / 7739
13
(OMIM) Audiograms consistent with progressive cochlear degeneration 1 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
(OMIM) Decreased neurons in dentate and inferior olivary nuclei 1 / 7739
16
(OMIM) Diffuse neuronal degeneration and astrocytosis of brain 1 / 7739
17
(OMIM) Small foci of interstitial chronic renal inflammation 1 / 7739
18
(OMIM) Vacuolation and PAS-positive cytoplasmic granules in renal tubules 1 / 7739
19
(OMIM) Decreased cerebellar granule cells 1 / 7739
20
(OMIM) Progressive nerve deafness 1 / 7739
21
(HPO:0002446) Astrocytosis 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Herrmann et al. (1964) reported 14 members in 5 generations of a family with diabetes mellitus, nephropathy, epilepsy, and deafness. The proband, a 43-year-old woman, had photomyoclonic seizures for 20 years and progressive nerve deafness for 7 years. ...