MCID: PHT013
MIFTS: 19

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 57
Herrmann Syndrome 57 53 73
Hereditary Photomyoclonus Associated with Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 53
Symphalangism-Brachydactyly Syndrome 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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. An important gene associated with Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction is NOG (Noggin). 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 11.1

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

Symptoms via clinical synopsis from OMIM:

57
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
slowed slurred speech
more
Ears:
progressive nerve deafness


Clinical features from OMIM:

172500

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 depressivity 32 HP:0000716
2 diabetes mellitus 32 HP:0000819
3 ataxia 32 HP:0001251
4 nephropathy 32 HP:0000112
5 horizontal nystagmus 32 HP:0000666
6 astrocytosis 32 HP:0002446
7 confusion 32 HP:0001289
8 personality changes 32 HP:0000751
9 focal motor seizures 32 HP:0011153
10 progressive sensorineural hearing impairment 32 HP:0000408
11 slowed slurred speech 32 HP:0007164
12 cochlear degeneration 32 HP:0005102
13 photomyoclonic seizures 32 HP:0001327

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:

41
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...

ClinVar genetic disease variations for Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction:

6 (show top 50) (show all 204)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOG NM_005450.4(NOG): c.649T> G (p.Trp217Gly) single nucleotide variant Pathogenic rs104894603 GRCh37 Chromosome 17, 54672233: 54672233
2 NOG NM_005450.4(NOG): c.649T> G (p.Trp217Gly) single nucleotide variant Pathogenic rs104894603 GRCh38 Chromosome 17, 56594872: 56594872
3 NOG NOG, 1-BP DEL deletion Pathogenic
4 NOG NOG, TRP205TER undetermined variant Pathogenic
5 NOG NM_005450.4(NOG): c.615G> C (p.Trp205Cys) single nucleotide variant Pathogenic rs104894615 GRCh37 Chromosome 17, 54672199: 54672199
6 NOG NM_005450.4(NOG): c.615G> C (p.Trp205Cys) single nucleotide variant Pathogenic rs104894615 GRCh38 Chromosome 17, 56594838: 56594838
7 GDF5 NM_000557.4(GDF5): c.-275T> C single nucleotide variant Benign rs143383 GRCh37 Chromosome 20, 34025983: 34025983
8 GDF5 NM_000557.4(GDF5): c.-275T> C single nucleotide variant Benign rs143383 GRCh38 Chromosome 20, 35438203: 35438203
9 NOG NM_005450.4(NOG): c.696C> G (p.Cys232Trp) single nucleotide variant Pathogenic rs387906844 GRCh37 Chromosome 17, 54672280: 54672280
10 NOG NM_005450.4(NOG): c.696C> G (p.Cys232Trp) single nucleotide variant Pathogenic rs387906844 GRCh38 Chromosome 17, 56594919: 56594919
11 GDF5 NM_000557.4(GDF5): c.1017A= (p.Lys339=) single nucleotide variant Benign rs224330 GRCh38 Chromosome 20, 35434398: 35434398
12 GDF5 NM_000557.4(GDF5): c.1017A= (p.Lys339=) single nucleotide variant Benign rs224330 GRCh37 Chromosome 20, 34022196: 34022196
13 GDF5 NM_000557.4(GDF5): c.826G= (p.Ala276=) single nucleotide variant Benign rs224331 GRCh38 Chromosome 20, 35434589: 35434589
14 GDF5 NM_000557.4(GDF5): c.826G= (p.Ala276=) single nucleotide variant Benign rs224331 GRCh37 Chromosome 20, 34022387: 34022387
15 GDF5 NM_000557.4(GDF5): c.-48C= single nucleotide variant Benign rs143384 GRCh38 Chromosome 20, 35437976: 35437976
16 GDF5 NM_000557.4(GDF5): c.-48C= single nucleotide variant Benign rs143384 GRCh37 Chromosome 20, 34025756: 34025756
17 GDF5 NM_000557.4(GDF5): c.652A> C (p.Arg218=) single nucleotide variant Benign/Likely benign rs116467702 GRCh37 Chromosome 20, 34022561: 34022561
18 GDF5 NM_000557.4(GDF5): c.652A> C (p.Arg218=) single nucleotide variant Benign/Likely benign rs116467702 GRCh38 Chromosome 20, 35434763: 35434763
19 FGF9 NM_002010.2(FGF9): c.-452A> T single nucleotide variant Uncertain significance rs886050041 GRCh38 Chromosome 13, 21671461: 21671461
20 FGF9 NM_002010.2(FGF9): c.-796C> T single nucleotide variant Likely benign rs549054241 GRCh37 Chromosome 13, 22245256: 22245256
21 FGF9 NM_002010.2(FGF9): c.-796C> T single nucleotide variant Likely benign rs549054241 GRCh38 Chromosome 13, 21671117: 21671117
22 FGF9 NM_002010.2(FGF9): c.-777G> T single nucleotide variant Uncertain significance rs567350418 GRCh37 Chromosome 13, 22245275: 22245275
23 FGF9 NM_002010.2(FGF9): c.-777G> T single nucleotide variant Uncertain significance rs567350418 GRCh38 Chromosome 13, 21671136: 21671136
24 FGF9 NM_002010.2(FGF9): c.-726C> T single nucleotide variant Likely benign rs531745333 GRCh37 Chromosome 13, 22245326: 22245326
25 FGF9 NM_002010.2(FGF9): c.-726C> T single nucleotide variant Likely benign rs531745333 GRCh38 Chromosome 13, 21671187: 21671187
26 FGF9 NM_002010.2(FGF9): c.-452A> T single nucleotide variant Uncertain significance rs886050041 GRCh37 Chromosome 13, 22245600: 22245600
27 FGF9 NM_002010.2(FGF9): c.-429G> A single nucleotide variant Likely benign rs115025644 GRCh37 Chromosome 13, 22245623: 22245623
28 FGF9 NM_002010.2(FGF9): c.-429G> A single nucleotide variant Likely benign rs115025644 GRCh38 Chromosome 13, 21671484: 21671484
29 FGF9 NM_002010.2(FGF9): c.-335delT deletion Uncertain significance rs886050042 GRCh37 Chromosome 13, 22245717: 22245717
30 FGF9 NM_002010.2(FGF9): c.-335delT deletion Uncertain significance rs886050042 GRCh38 Chromosome 13, 21671578: 21671578
31 FGF9 NM_002010.2(FGF9): c.-116dupC duplication Uncertain significance rs886050043 GRCh38 Chromosome 13, 21671797: 21671797
32 FGF9 NM_002010.2(FGF9): c.-116dupC duplication Uncertain significance rs886050043 GRCh37 Chromosome 13, 22245936: 22245936
33 FGF9 NM_002010.2(FGF9): c.-703C> T single nucleotide variant Likely benign rs370588961 GRCh37 Chromosome 13, 22245349: 22245349
34 FGF9 NM_002010.2(FGF9): c.-703C> T single nucleotide variant Likely benign rs370588961 GRCh38 Chromosome 13, 21671210: 21671210
35 FGF9 NM_002010.2(FGF9): c.-414C> T single nucleotide variant Likely benign rs187418449 GRCh37 Chromosome 13, 22245638: 22245638
36 FGF9 NM_002010.2(FGF9): c.-414C> T single nucleotide variant Likely benign rs187418449 GRCh38 Chromosome 13, 21671499: 21671499
37 FGF9 NM_002010.2(FGF9): c.-256G> A single nucleotide variant Uncertain significance rs780183885 GRCh37 Chromosome 13, 22245796: 22245796
38 FGF9 NM_002010.2(FGF9): c.-256G> A single nucleotide variant Uncertain significance rs780183885 GRCh38 Chromosome 13, 21671657: 21671657
39 FGF9 NM_002010.2(FGF9): c.-151G> T single nucleotide variant Likely benign rs542009378 GRCh37 Chromosome 13, 22245901: 22245901
40 FGF9 NM_002010.2(FGF9): c.-151G> T single nucleotide variant Likely benign rs542009378 GRCh38 Chromosome 13, 21671762: 21671762
41 FGF9 NM_002010.2(FGF9): c.-37dupA duplication Uncertain significance rs886050044 GRCh38 Chromosome 13, 21671876: 21671876
42 FGF9 NM_002010.2(FGF9): c.-37dupA duplication Uncertain significance rs886050044 GRCh37 Chromosome 13, 22246015: 22246015
43 FGF9 NM_002010.2(FGF9): c.278-14C> T single nucleotide variant Benign rs3818460 GRCh38 Chromosome 13, 21681028: 21681028
44 FGF9 NM_002010.2(FGF9): c.278-14C> T single nucleotide variant Benign rs3818460 GRCh37 Chromosome 13, 22255167: 22255167
45 FGF9 NM_002010.2(FGF9): c.327C> T (p.Gly109=) single nucleotide variant Likely benign rs34748315 GRCh38 Chromosome 13, 21681091: 21681091
46 FGF9 NM_002010.2(FGF9): c.327C> T (p.Gly109=) single nucleotide variant Likely benign rs34748315 GRCh37 Chromosome 13, 22255230: 22255230
47 FGF9 NM_002010.2(FGF9): c.*274_*279delATGTGT deletion Uncertain significance rs886050047 GRCh38 Chromosome 13, 21701709: 21701714
48 FGF9 NM_002010.2(FGF9): c.*274_*279delATGTGT deletion Uncertain significance rs886050047 GRCh37 Chromosome 13, 22275848: 22275853
49 FGF9 NM_002010.2(FGF9): c.*304_*305delGT deletion Uncertain significance rs886050050 GRCh38 Chromosome 13, 21701739: 21701740
50 FGF9 NM_002010.2(FGF9): c.*304_*305delGT deletion Uncertain significance rs886050050 GRCh37 Chromosome 13, 22275878: 22275879

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...

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