MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
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expandcerebellar degeneration (MONDO:0022687)
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expandeye degenerative disease (MONDO:0004884)
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expandhereditary ataxia (MONDO:0000557)
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expandinherited neurodegenerative disorder (MONDO:0024237)
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expandinherited tremor disorder (MONDO:0017663)
Parent Node:
expandsyndromic retinitis pigmentosa (MONDO:0020240)
..Starting node
..expandmuscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome ()

       Child Nodes:



 Sister Nodes: 
..expandAlstrom syndrome ()
..expandautosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome ()
..expandBardet-Biedl syndrome ()
..expandcleft lip-retinopathy syndrome ()
..expandCockayne syndrome ()
..expandCohen syndrome ()
..expandfamilial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ()
..expandhypogonadotropic hypogonadism-retinitis pigmentosa syndrome ()
..expandJoubert syndrome with ocular defect ()
..expandJoubert syndrome with oculorenal defect ()
..expandKearns-Sayre syndrome ()  LSDB  L: 00143;
..expandLaurence-Moon syndrome ()
..expandmuscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome ()
..expandoculotrichodysplasia ()
..expandosteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome ()
..expandpantothenate kinase-associated neurodegeneration ()
..expandPHARC syndrome ()
..expandprimary ciliary dyskinesia-retinitis pigmentosa syndrome ()
..expandpseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa ()
..expandretinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ()
..expandretinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome ()
..expandretinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome ()
..expandRHYNS syndrome ()
..expandSaldino-Mainzer syndrome ()
..expandspastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome ()
..expandTELO2-related intellectual disability-neurodevelopmental disorder ()
..expandUsher syndrome ()
..expandxeroderma pigmentosum-Cockayne syndrome complex ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8023
Name:muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Definition:This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.
Alternative IDs:158500
ParentIDs:
TreeNumbers:
Synonyms:Furukawa-Takagi-Nakao syndrome; muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus; muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM: 158500;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001251Ataxia
3 HP:0000819Diabetes mellitus
NAMDC:  Diabetes mellitus
4 HP:0000510Rod-cone dystrophy
5 HP:0003202Skeletal muscle atrophy
Disease Causing ClinVar Variants
MSeqDR Portal