RRNS
MCID: RCH002
MIFTS: 32

Richards-Rundle Syndrome (RRNS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Richards-Rundle Syndrome

MalaCards integrated aliases for Richards-Rundle Syndrome:

Name: Richards-Rundle Syndrome 57 53 59 72
Ketoaciduria-Intellectual Disability-Ataxia-Deafness Syndrome 53 59
Ketoaciduria - Intellectual Disability - Ataxia - Deafness 53
Ataxia-Deafness-Retardation Syndrome with Ketoaciduria 53
Ataxia-Deafness-Mental Retardation Syndrome 57
Ketoaciduria-Mental Deficiency Syndrome 53
Familial Ataxia-Hypogonadism Syndrome 53
Rrns 57
Rrs 53

Characteristics:

Orphanet epidemiological data:

59
richards-rundle syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder


HPO:

32
richards-rundle syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:



External Ids:

OMIM 57 245100
MESH via Orphanet 45 C535674
ICD10 via Orphanet 34 G60.2
UMLS via Orphanet 73 C0796136
Orphanet 59 ORPHA1399
MedGen 42 C0796136
UMLS 72 C0796136

Summaries for Richards-Rundle Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1399DefinitionRichards-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.Visit the Orphanet disease page for more resources.

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

More information from OMIM: 245100

Related Diseases for Richards-Rundle Syndrome

Diseases related to Richards-Rundle Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 191)
# Related Disease Score Top Affiliating Genes
1 reardon wilson cavanagh syndrome 11.6
2 robinow syndrome, autosomal recessive 1 11.5
3 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.2
4 robinow syndrome, autosomal dominant 1 11.2
5 uv-sensitive syndrome 1 11.2
6 uv-sensitive syndrome 2 11.2
7 uv-sensitive syndrome 3 11.2
8 robinow syndrome, autosomal dominant 2 11.2
9 robinow syndrome, autosomal dominant 3 11.2
10 robinow syndrome 11.2
11 chaotic atrial tachycardia 11.2
12 atrial fibrillation 10.6
13 ataxia and polyneuropathy, adult-onset 10.5
14 hypogonadism 10.5
15 hypogonadotropism 10.5
16 congestive heart failure 10.4
17 cardiac conduction defect 10.4
18 neurofibromatosis, type iv, of riccardi 10.4
19 branchiootic syndrome 1 10.4
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
21 ventricular fibrillation, paroxysmal familial, 1 10.3
22 helix syndrome 10.3
23 salmonellosis 10.3
24 acute myocardial infarction 10.3
25 atrioventricular block 10.2
26 cardiac arrhythmia 10.2
27 relapsing-remitting multiple sclerosis 10.2
28 autonomic dysfunction 10.2
29 myocardial infarction 10.2
30 heart disease 10.2
31 long qt syndrome 10.2
32 syncope 10.2
33 infective endocarditis 10.1
34 endocarditis 10.1
35 pyelonephritis 10.1
36 cholera 10.1
37 dental caries 10.1
38 haemophilus influenzae 10.1
39 mycobacterium abscessus 10.1
40 mycobacterium chelonae 10.1
41 progressive familial heart block, type ia 10.1
42 angina pectoris 10.1
43 atrial standstill 1 10.1
44 hypertension, essential 10.1
45 papillomatosis, confluent and reticulated 10.1
46 leprosy 3 10.1
47 resting heart rate, variation in 10.1
48 coronary heart disease 1 10.1
49 sleep apnea 10.1
50 cardiac arrest 10.1

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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
3 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
4 hypergonadotropic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000815
5 mental deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001268
6 distal amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003693
7 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
8 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
9 ketonuria 59 32 frequent (33%) Frequent (79-30%) HP:0002919
10 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
11 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
12 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
13 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
14 intellectual disability 32 HP:0001249
15 global developmental delay 32 HP:0001263
16 pes planus 32 HP:0001763
17 sensorineural hearing impairment 32 HP:0000407
18 skeletal muscle atrophy 32 HP:0003202
19 areflexia 32 HP:0001284
20 strabismus 32 HP:0000486
21 primary amenorrhea 32 HP:0000786
22 pes cavus 32 HP:0001761
23 talipes equinovarus 32 HP:0001762
24 hypogonadism 32 HP:0000135
25 absence of secondary sex characteristics 32 HP:0008187
26 aggressive behavior 32 HP:0000718
27 atrophy of the spinal cord 32 HP:0006827
28 mutism 32 HP:0002300

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes planus
pes cavus
pes equinovarus

Endocrine Features:
primary amenorrhea
hypogonadotropic hypogonadism

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

Neurologic Peripheral Nervous System:
areflexia

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

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

MalaCards organs/tissues related to Richards-Rundle Syndrome:

41
Spinal Cord, Ovary, Bone, Skeletal Muscle, Liver

Publications for Richards-Rundle Syndrome

Articles related to Richards-Rundle Syndrome:

(show top 50) (show all 199)
# Title Authors PMID Year
1
Spino-cerebellar degeneration, hormonal disorder, hypogonadism, deaf mutism and mental deficiency. 8
4671995 1972
2
Familial ataxia, deaf-mutism, and muscular wasting. 8
14795246 1950
3
Structural features and phylogenetic implications of four new mitogenomes of Centrotinae (Hemiptera: Membracidae). 38
31401283 2019
4
Characterization of the complete mitochondrial genome of Chinese Triops granarius and implications for species delimitation. 38
31152835 2019
5
Mitogenome types of two Lentinula edodes sensu lato populations in China. 38
31263159 2019
6
Characterization of the complete mitochondrial genome of Centrorhynchus milvus (Acanthocephala: Polymorphida) and its phylogenetic implications. 38
31279002 2019
7
Characterization of the mitochondrial genome sequences of the liver fluke Amphimerus sp. (Trematoda: Opisthorchiidae) from Ecuador and phylogenetic implications. 38
31022381 2019
8
A New Species of Sucking Louse from the Long-tailed Ground Squirrel, Urocitellus undulatus, from Mongolia, with a Key to Species, and a Review of Host Associations and Geographical Distributions of Members of the Genus Linognathoides (Psocodea: Anoplura: Polyplacidae). 38
31251703 2019
9
On the occurrence and molecular identification of Contracaecum larvae (Nematoda: Anisakidae) in Mugil cephalus from Turkish waters. 38
30863896 2019
10
The first mitogenomes of the superfamily Pamphilioidea (Hymenoptera: Symphyta): Mitogenome architecture and phylogenetic inference. 38
30448489 2019
11
Characterization of the mitochondrial genome of Analcellicampa xanthosoma gen. et sp. nov. (Hymenoptera: Tenthredinidae). 38
31106070 2019
12
Rapid and Visual Detection of Trichinella Spp. Using a Lateral Flow Strip-Based Recombinase Polymerase Amplification (LF-RPA) Assay. 38
30719427 2019
13
Conservation of mitochondrial genome arrangements in brittle stars (Echinodermata, Ophiuroidea). 38
30316947 2019
14
Characterization of the complete mitochondrial genome of Phymatostetha huangshanensis (Hemiptera: Cercopidae) and phylogenetic analysis. 38
30036628 2018
15
Description of Kumatoeides gen. nov. (Coleoptera: Chrysomelidae, Eumolpinae) from New Caledonia. 38
30486162 2018
16
The mitochondrial genome of Dipetalonema gracile from a squirrel monkey in China. 38
30326978 2018
17
Relationship of diversity and the secondary structure in 16S-23S rDNA internal transcribed spacer: a case in Vibrio parahaemolyticus. 38
30010854 2018
18
The Complete Mitogenome of Falco amurensis (Falconiformes, Falconidae), and a Comparative Analysis of Genus Falco. 38
30079837 2018
19
Characterization of the complete mitochondrial genome of Metastrongylus salmi (M. salmi) derived from Tibetan pigs in Tibet, China. 38
29654674 2018
20
The Complete Mitochondrial Genome of Ugyops sp. (Hemiptera: Delphacidae). 38
29924333 2018
21
Comparative mitogenomics supports synonymy of the genera Ligula and Digramma (Cestoda: Diphyllobothriidae). 38
29848351 2018
22
Mitochondrial phylogeny, divergence history and high-altitude adaptation of grassland caterpillars (Lepidoptera: Lymantriinae: Gynaephora) inhabiting the Tibetan Plateau. 38
29408286 2018
23
The complete mitochondrial genome of Melon thrips, Thrips palmi (Thripinae): Comparative analysis. 38
30379813 2018
24
Characterization of the mitochondrial genome of Arge bella Wei & Du sp. nov. (Hymenoptera: Argidae). 38
30595984 2018
25
Molecular genotyping of Echinococcus granulosus in the North of Iraq. 38
29279091 2018
26
Prevalence of Trichinella spp. Infections in Hunted Wild Boars in Northern Iran. 38
29259947 2017
27
Complete mitochondrial genome sequence of fruit-piercing moth Eudocima phalonia (Linnaeus, 1763) (Lepidoptera: Noctuoidea). 38
29021958 2017
28
Cystic echinococcosis in Poland: genetic variability and the first record of Echinococcus granulosus sensu stricto (G1 genotype) in the country. 38
28975403 2017
29
The complete mitochondrial DNA of three monozoic tapeworms in the Caryophyllidea: a mitogenomic perspective on the phylogeny of eucestodes. 38
28655342 2017
30
Atp8 is in the ground pattern of flatworm mitochondrial genomes. 38
28549457 2017
31
Comparative analyses within Gyrodactylus (Platyhelminthes: Monogenea) mitochondrial genomes and conserved polymerase chain reaction primers for gyrodactylid mitochondrial DNA. 38
27502106 2017
32
Complete mitochondrial genome of the aphid Hormaphis betulae (Mordvilko) (Hemiptera: Aphididae: Hormaphidinae). 38
26713493 2017
33
Molecular characterization of Echinococcus granulosus isolates from Bulgarian human cystic echinococcosis patients. 38
28110440 2017
34
The complete mitochondrial genome of the conifer needle endophyte, Phialocephala scopiformis DAOMC 229536 confirms evolutionary division within the fungal Phialocephala fortinii s.l. - Acephala appalanata species complex. 38
28215349 2017
35
Mitochondrial genome diversity in dagger and needle nematodes (Nematoda: Longidoridae). 38
28150734 2017
36
Fasciolopsis buski (Digenea: Fasciolidae) from China and India may represent distinct taxa based on mitochondrial and nuclear ribosomal DNA sequences. 38
28228149 2017
37
Phylogenetic relationships of Mediterranean and North-East Atlantic Cantharidinae and notes on Stomatellinae (Vetigastropoda: Trochidae). 38
27746316 2017
38
Complete Mitochondrial Genome of Phytophthora nicotianae and Identification of Molecular Markers for the Oomycetes. 38
28848506 2017
39
The mitochondrial genome of the lepidopteran host cadaver (Thitarodes sp.) of Ophiocordyceps sinensis and related phylogenetic analysis. 38
27984192 2017
40
Phylogeny and taxonomy of Favolus (Basidiomycota). 38
29336686 2017
41
The complete mitochondrial genome of Tambocerus sp. (Hemiptera: Cicadellidae). 38
26710270 2017
42
The complete nucleotide sequence of the mitochondrial genome of Drosophila formosana (Diptera: Drosophilidae). 38
26544023 2016
43
Identification of the complete mitochondrial genome of the pacific white shrimp Litopenaeus vannamei (Decapoda: Penaeidae). 38
26709974 2016
44
Genetic variability among Hymenolepis nana isolates from different geographical regions in China revealed by sequence analysis of three mitochondrial genes. 38
26642941 2016
45
A complete mitochondrial genome from Echinochasmus japonicus supports the elevation of Echinochasminae Odhner, 1910 to family rank (Trematoda: Platyhelminthes). 38
27702649 2016
46
The complete mitochondrial genome of Bactrocera diaphora (Diptera: Tephtitidae). 38
26462416 2016
47
Next-Generation Sequencing of Two Mitochondrial Genomes from Family Pompilidae (Hymenoptera: Vespoidea) Reveal Novel Patterns of Gene Arrangement. 38
27727175 2016
48
Complete mitochondrial genome of a Neotropical dobsonfly Chloronia mirifica Navás, 1925 (Megaloptera: Corydalidae), with phylogenetic implications for the genus Chloronia Banks, 1908. 38
27615958 2016
49
Complete mitochondrial genomes of Trisidos kiyoni and Potiarca pilula: Varied mitochondrial genome size and highly rearranged gene order in Arcidae. 38
27653979 2016
50
Complete mitochondrial genome of the Antarctic midge Parochlus steinenii (Diptera: Chironomidae). 38
26642812 2016

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

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64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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