RRNS
MCID: RCH002
MIFTS: 31

Richards-Rundle Syndrome (RRNS)

Categories: Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Richards-Rundle Syndrome

MalaCards integrated aliases for Richards-Rundle Syndrome:

Name: Richards-Rundle Syndrome 57 19 58 71
Ketoaciduria-Intellectual Disability-Ataxia-Deafness Syndrome 19 58
Ketoaciduria-Intellectual Disability-Ataxia-Hearing Loss Syndrome 58
Ketoaciduria - Intellectual Disability - Ataxia - Deafness 19
Ataxia-Deafness-Retardation Syndrome with Ketoaciduria 19
Ataxia-Deafness-Mental Retardation Syndrome 57
Ketoaciduria-Mental Deficiency Syndrome 19
Familial Ataxia-Hypogonadism Syndrome 19
Rrns 57
Rrs 19

Characteristics:


Inheritance:

Autosomal recessive 58 57

Age Of Onset:

Infancy 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in infancy
progressive disorder


Classifications:

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


Summaries for Richards-Rundle Syndrome

GARD: 19 Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.

MalaCards based summary: Richards-Rundle Syndrome, also known as ketoaciduria-intellectual disability-ataxia-deafness syndrome, is related to robinow syndrome, autosomal recessive 1 and robinow syndrome, autosomal dominant 1, and has symptoms including ataxia and cerebellar ataxia. Affiliated tissues include spinal cord, skeletal muscle and bone, and related phenotypes are ataxia and gait disturbance

Orphanet: 58 Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.

More information from OMIM: 245100

Related Diseases for Richards-Rundle Syndrome

Graphical network of the top 20 diseases related to Richards-Rundle Syndrome:



Diseases related to Richards-Rundle Syndrome

Symptoms & Phenotypes for Richards-Rundle Syndrome

Human phenotypes related to Richards-Rundle Syndrome:

58 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001251
2 gait disturbance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001288
3 hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000365
4 mental deterioration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001268
5 hypergonadotropic hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000815
6 distal amyotrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003693
7 hyperreflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001347
8 hypertonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001276
9 ketonuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0002919
10 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
11 joint stiffness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001387
12 reduced bone mineral density 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004349
13 dolichocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000268
14 intellectual disability 30 HP:0001249
15 global developmental delay 30 HP:0001263
16 pes planus 30 HP:0001763
17 sensorineural hearing impairment 30 HP:0000407
18 skeletal muscle atrophy 30 HP:0003202
19 strabismus 30 HP:0000486
20 primary amenorrhea 30 HP:0000786
21 talipes equinovarus 30 HP:0001762
22 areflexia 30 HP:0001284
23 pes cavus 30 HP:0001761
24 hypogonadism 30 HP:0000135
25 aggressive behavior 30 HP:0000718
26 mutism 30 HP:0002300
27 atrophy of the spinal cord 30 HP:0006827
28 absence of secondary sex characteristics 30 HP:0008187

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Skeletal Feet:
pes planus
pes cavus
pes equinovarus

Neurologic Peripheral Nervous System:
areflexia

Neurologic Central Nervous System:
mutism
cerebellar ataxia
mental retardation
cerebellar degeneration
loss of independent ambulation
more
Muscle Soft Tissue:
muscle atrophy

Genitourinary External Genitalia Male:
spermatogenic arrest

Laboratory Abnormalities:
low urinary excretion of neutral 17-ketosteroids

Endocrine Features:
primary amenorrhea
hypogonadotropic hypogonadism

Genitourinary:
hypogonadism

Head And Neck Eyes:
sensorineural deafness

Neurologic Behavioral Psychiatric Manifestations:
aggression
tantrums

Genitourinary Internal Genitalia Female:
ovaries lack follicles

Clinical features from OMIM®:

245100 (Updated 24-Oct-2022)

UMLS symptoms related to Richards-Rundle Syndrome:


ataxia; cerebellar ataxia

Drugs & Therapeutics for Richards-Rundle Syndrome

Search Clinical Trials, NIH Clinical Center for Richards-Rundle Syndrome

Genetic Tests for Richards-Rundle Syndrome

Anatomical Context for Richards-Rundle Syndrome

Organs/tissues related to Richards-Rundle Syndrome:

MalaCards : Spinal Cord, Skeletal Muscle, Bone, Liver

Publications for Richards-Rundle Syndrome

Articles related to Richards-Rundle Syndrome:

(show top 50) (show all 283)
# Title Authors PMID Year
1
Spino-cerebellar degeneration, hormonal disorder, hypogonadism, deaf mutism and mental deficiency. 57
4671995 1972
2
Familial ataxia, deaf-mutism, and muscular wasting. 57
14795246 1950
3
Characterization and Phylogenetic Implication of Complete Mitochondrial Genome of the Medicinal Ant Formica sinae (Hymenoptera: Formicidae): Genomic Comparisons in Formicidae. 62
36209399 2022
4
Morphometry and genetic diversity pattern of Cysticercus tenuicollis, an important food-borne taeniid metacestode in goats in Bangladesh. 62
36100031 2022
5
Parasite identification in mullet fish (Mugil curema) from Chautengo Lagoon, Guerrero, Mexico, based on morphology and molecular analysis. 62
35932907 2022
6
Complete mitochondrial genome of Idea leuconoe (Lepidoptera: Danaidae) and related phylogenetic analyses. 62
35138680 2022
7
Study on the Chinese Subfamily Anabropsinae (Orthoptera: Anostostomatidae) VI: One new species of Anabropsis (Pteranabropsis) from Yunnan Province. 62
36095736 2022
8
Genome Organization and Comparative Evolutionary Mitochondriomics of Brown Planthopper, Nilaparvata lugens Biotype 4 Using Next Generation Sequencing (NGS). 62
36143326 2022
9
Bladder Tissue Microbiome Composition in Patients of Bladder Cancer or Benign Prostatic Hyperplasia and Related Human Beta Defensin Levels. 62
35885062 2022
10
DNA Arithmetic with Error Correction. 62
35816540 2022
11
Analysis of Complete Mitochondrial Genome of Bohadschia argus (Jaeger, 1833) (Aspidochirotida, Holothuriidae). 62
35681901 2022
12
The First Complete Mitochondrial Genome of Eucrate crenata (Decapoda: Brachyura: Goneplacidae) and Phylogenetic Relationships within Infraorder Brachyura. 62
35885910 2022
13
Novel Gene Rearrangements in the Mitochondrial Genomes of Cynipoid Wasps (Hymenoptera: Cynipoidea). 62
35627299 2022
14
Electrical conductivity of random metallic nanowire networks: an analytical consideration along with computer simulation. 62
35507328 2022
15
Electrical conductivity of nanorod-based transparent electrodes: Comparison of mean-field approaches. 62
35590647 2022
16
Mitophylogenomics of the zoonotic fluke Echinostoma malayanum confirms it as a member of the genus Artyfechinostomum Lane, 1915 and illustrates the complexity of Echinostomatidae systematics. 62
35142926 2022
17
The complete mitochondrial genome of Tuberolachnus salignus (Gmelin, 1790) (Hemiptera: Aphididae: Lachninae). 62
35859716 2022
18
The complete mitochondrial genome of invasive insect Leptinotarsa decemlineata Say 1824 (Coleoptera: Chrysomelidae). 62
35174290 2022
19
The complete mitochondrial genome of Ahamus yushuensis Chu et Wang 1985 (Lepidoptera: Hepialidae) and phylogenetic analysis. 62
36106190 2022
20
Characterization and Phylogenetic Analysis of the Complete Mitochondrial Genomes of Two Tiny Necrophagous Phorid Flies, Metopina sagittata and Puliciphora borinquenensis (Diptera: Phoridae). 62
34487176 2022
21
First genomic resource for an endangered neotropical mega-herbivore: the complete mitochondrial genome of the forest-dweller (Baird's) tapir (Tapirus bairdii). 62
35669959 2022
22
Complete mitochondrial genome of the Woodland Brown, Lopinga achine Scopoli, 1763 (Nymphalidae: Satyrinae) and its phylogenetic analysis. 62
35528255 2022
23
Characterization of the complete mitochondrial genome of Cerogria popularis Borchmann, 1936 (Coleoptera: Tenebrionidae). 62
35573605 2022
24
Characterization of mitogenomes from four Mucorales species and insights into pathogenicity. 62
34570921 2022
25
The mitochondrial genome sequence analysis of Ophidascaris baylisi from the Burmese python (Python molurus bivittatus). 62
34375752 2021
26
Microbiological and Clinical Effects of a Proanthocyanidin-enriched Extract from Rumex acetosa in Periodontally Healthy Carriers of Porphyromonas gingivalis: a Randomized Controlled Pilot Study. 62
34953469 2021
27
Integrative taxonomy unveils a new species of Dugesia (Platyhelminthes, Tricladida, Dugesiidae) from the southern portion of the Taihang Mountains in northern China, with the description of its complete mitogenome and an exploratory analysis of mitochondrial gene order as a taxonomic character. 62
34783153 2021
28
Is Galactose a Hormetic Sugar? An Exploratory Study of the Rat Hippocampal Redox Regulatory Network. 62
34453395 2021
29
Rapid Response System Restructure: Focus on Prevention and Early Intervention. 62
34437321 2021
30
The complete mitochondrial genome of Trifida elongate and comparative analysis of 43 leafhoppers. 62
33962105 2021
31
Characterization of the complete mitochondrial genomes of two Ixodes ticks, I. nipponensis and Ixodes (Pholeoixodes) sp. 62
33931902 2021
32
Mitochondrial Genomes of Hestina persimilis and Hestinalis nama (Lepidoptera, Nymphalidae): Genome Description and Phylogenetic Implications. 62
34442319 2021
33
Morphological and complete mitogenomic characterisation of the acanthocephalan Polymorphus minutus infecting the duck Anas platyrhynchos. 62
34152291 2021
34
Recorded Mental Health Recovery Narratives as a Resource for People Affected by Mental Health Problems: Development of the Narrative Experiences Online (NEON) Intervention. 62
34042595 2021
35
The mitochondrial genomes of five spring and groundwater amphipods of the family Crangonyctidae (Crustacea: Amphipoda) from eastern North America. 62
34104729 2021
36
Characterization of the complete mitochondrial genome of Alectryonella plicatula (Bivalvia: Ostreidae). 62
34212079 2021
37
Mitogenome of emAlaudala/em emcheleensis/em (Passeriformes: Alaudidae) and comparative analyses of Sylvioidea mitogenomes. 62
33903371 2021
38
The complete mitochondrial genome of Palomena viridissima (Hemiptera: Pentatomidae) and phylogenetic analysis. 62
33889740 2021
39
The complete mitochondrial genome sequence of Dodona eugenes (Lepidoptera: Riodinidae). 62
33763588 2021
40
Molecular Evidence for Local Acquisition of Human Alveolar Echinococcosis in Saskatchewan, Canada. 62
32766836 2021
41
Morphological and molecular characterization of Cystoisospora yuensis n. sp. and Cystoisospora rastegaievae (Protozoa: Eimeriidae) in amur hedgehogs, Erinaceus amurensis (Schrenk, 1859). 62
33191445 2021
42
The first mitogenome of Lesser Whitethroat, Sylvia curruca blythi Ticehurst & Whistler, 1933 (Passeriformes: Sylviidae) and its phylogenetic implications for the genus Sylvia. 62
34345689 2021
43
Phylogenomic analysis of the chloroplast genome of the green-tide forming macroalga Ulva intestinalis Linnaeus (Ulvophyceae, Chlorophyta). 62
34589588 2021
44
Comparative Mitogenomic Analysis of Two Cuckoo Bees (Apoidea: Anthophila: Megachilidae) with Phylogenetic Implications. 62
33466344 2021
45
New insights into the coexistence of Contracaecum rudolphii A and Contracaecum rudolphii B (Nematoda: Anisakidae) in Phalacrocorax carbo sinensis from Sardinia: genetic variability and phylogenetic analysis. 62
32741423 2020
46
The complete mitochondrial genome of Eutrichosiphum pasaniae (Okajima, 1908) (Hemiptera: Aphididae: Greenideinae). 62
33367053 2020
47
The complete mitochondrial genome of Nysius fuscovittatus (Hemiptera: Lygaeidae). 62
33458212 2020
48
Mitogenomic architecture of the multivalent endemic black clam (Villorita cyprinoides) and its phylogenetic implications. 62
32963308 2020
49
A new species of the genus Tricholapita nom. nov. and stat. nov. (Coleoptera: Chrysomelidae, Eumolpinae) from New Caledonia. 62
33056243 2020
50
The complete mitochondrial DNA sequence of Heterochaerus australis (Acoela, Convolutidae). 62
33458044 2020

Variations for Richards-Rundle Syndrome

Expression for Richards-Rundle Syndrome

Search GEO for disease gene expression data for Richards-Rundle Syndrome.

Pathways for Richards-Rundle Syndrome

GO Terms for Richards-Rundle Syndrome

Sources for Richards-Rundle Syndrome

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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