MCID: PHT013
MIFTS: 18

Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction

Categories: Ear diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and...

MalaCards integrated aliases for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction:

Name: Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 58
Herrmann Syndrome 58 54 74
Hereditary Photomyoclonus Associated with Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 54
Symphalangism-Brachydactyly Syndrome 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and...

MalaCards based summary : Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction, also known as herrmann syndrome, is related to diabetes and deafness, maternally inherited, and has symptoms including myoclonus, waddling gait and cerebellar ataxia. Affiliated tissues include brain, and related phenotypes are depressivity and diabetes mellitus

Description from OMIM: 172500

Related Diseases for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and...

Diseases related to Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 diabetes and deafness, maternally inherited 11.2

Symptoms & Phenotypes for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and...

Human phenotypes related to Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 depressivity 33 HP:0000716
2 diabetes mellitus 33 HP:0000819
3 ataxia 33 HP:0001251
4 nephropathy 33 HP:0000112
5 horizontal nystagmus 33 HP:0000666
6 astrocytosis 33 HP:0002446
7 confusion 33 HP:0001289
8 personality changes 33 HP:0000751
9 progressive sensorineural hearing impairment 33 HP:0000408
10 photomyoclonic seizures 33 HP:0001327
11 cochlear degeneration 33 HP:0005102
12 slowed slurred speech 33 HP:0007164
13 focal motor seizure 33 HP:0011153

Symptoms via clinical synopsis from OMIM:

58
Endocrine:
diabetes mellitus

G U:
nephropathy

Lab:
audiograms consistent with progressive cochlear degeneration
small foci of interstitial chronic renal inflammation
vacuolation and pas-positive cytoplasmic granules in renal tubules
diffuse neuronal degeneration and astrocytosis of brain
decreased cerebellar granule cells
more
Neuro:
ataxia
horizontal nystagmus
confusion
focal motor seizures
photomyoclonic seizures
more
Ears:
progressive nerve deafness

Clinical features from OMIM:

172500

UMLS symptoms related to Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction:


myoclonus, waddling gait, cerebellar ataxia

Drugs & Therapeutics for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and...

Search Clinical Trials , NIH Clinical Center for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction

Genetic Tests for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and...

Anatomical Context for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and...

MalaCards organs/tissues related to Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction:

42
Brain

Publications for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and...

Articles related to Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction:

# Title Authors Year
1
Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification. ( 4469994 )
1974

Variations for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and...

Expression for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and...

Search GEO for disease gene expression data for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction.

Pathways for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and...

GO Terms for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and...

Sources for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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