MCID: ATH012
MIFTS: 22

Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease

Categories: Ear diseases, Fetal diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes...

MalaCards integrated aliases for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease:

Name: Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 57 19
Feigenbaum Bergeron Richardson Syndrome 19 71
Feigenbaum-Bergeron-Richardson Syndrome 58 75
Premature Atherosclerosis with Photomyoclonic Epilepsy, Deafness, Diabetes Mellitus, Nephropathy, and Neurodegenerative Disorder 19
Atherosclerosis-Hearing Loss-Diabetes-Epilepsy-Nephropathy Syndrome 58
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome 58

Characteristics:


Inheritance:

Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease: Autosomal recessive 57
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome: Autosomal recessive 58

Prevelance:

Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome: Childhood 58

Age Of Death:

Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome: adult 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes...

GARD: 19 A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.

MalaCards based summary: Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease, also known as feigenbaum bergeron richardson syndrome, is related to atherosclerosis susceptibility and abdominal obesity-metabolic syndrome 1, and has symptoms including myoclonus Affiliated tissues include kidney and cerebellum, and related phenotypes are sensorineural hearing impairment and short stature

Orphanet: 58 A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.

Wikipedia: 75 Feigenbaum Bergeron Richardson syndrome, also known as... more...

More information from OMIM: 209010

Related Diseases for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes...

Diseases related to Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atherosclerosis susceptibility 10.6
2 abdominal obesity-metabolic syndrome 1 10.6
3 sensorineural hearing loss 10.6
4 arteriolosclerosis 10.6

Symptoms & Phenotypes for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes...

Human phenotypes related to Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease:

58 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000407
2 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
3 type i diabetes mellitus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100651
4 anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001903
5 progressive neurologic deterioration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002344
6 abnormality of mitochondrial metabolism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003287
7 cerebral artery atherosclerosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007201
8 coronary artery atherosclerosis 30 Hallmark (90%) HP:0001677
9 photosensitive myoclonic seizure 30 Hallmark (90%) HP:0001327
10 gait disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0001288
11 tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0001337
12 hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0000822
13 hyperlordosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0003307
14 hypertonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001276
15 proteinuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0000093
16 nephropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000112
17 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
18 nephrotic syndrome 58 30 Frequent (33%) Frequent (79-30%)
HP:0000100
19 aplasia/hypoplasia of the cerebellum 58 30 Frequent (33%) Frequent (79-30%)
HP:0007360
20 cerebral cortical atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0002120
21 abnormal mitral valve morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001633
22 limitation of joint mobility 58 30 Frequent (33%) Frequent (79-30%)
HP:0001376
23 diabetes mellitus 30 HP:0000819
24 arterial stenosis 58 Frequent (79-30%)
25 abnormal cerebellum morphology 30 HP:0001317
26 renal artery stenosis 30 HP:0001920
27 photomyoclonic seizures 58 Very frequent (99-80%)
28 coronary atherosclerosis 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Metabolic:
diabetes mellitus

Renal:
renal artery stenosis

Ears:
sensorineural deafness

Lab:
proteinuria

Neuro:
photomyoclonic seizures
cerebral artery atherosclerosis
cerebellar signs
cognitive function loss

Cardiovascular:
aortic and coronary atherosclerosis

Clinical features from OMIM®:

209010 (Updated 24-Oct-2022)

UMLS symptoms related to Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease:


myoclonus

Drugs & Therapeutics for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes...

Search Clinical Trials, NIH Clinical Center for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease

Genetic Tests for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes...

Anatomical Context for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes...

Organs/tissues related to Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease:

MalaCards : Kidney, Cerebellum

Publications for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes...

Articles related to Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease:

# Title Authors PMID Year
1
Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: a new syndrome? 62 57
8172238 1994

Variations for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes...

Expression for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes...

Search GEO for disease gene expression data for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease.

Pathways for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes...

GO Terms for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes...

Sources for Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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