MCID: DFN017
MIFTS: 11

Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome

Categories: Rare diseases

Aliases & Classifications for Deafness Onychodystrophy Osteodystrophy and Mental Retardation...

MalaCards integrated aliases for Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome:

Name: Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 50
Digitorenocerebral Syndrome 50 25 69
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome 50 25
Autosomal Recessive Deafness-Onychodystrophy Syndrome 50 25
Doors Syndrome 50 25
Door Syndrome 50 25
Deafness, Onychodystrophy, Osteodystrophy, and Mental Retardation Syndrome 25
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 25
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 50
Eronen Syndrome 25
Drc Syndrome 25

Classifications:



Summaries for Deafness Onychodystrophy Osteodystrophy and Mental Retardation...

NIH Rare Diseases : 50 deafness onychodystrophy osteodystrophy and mental retardation (door) syndrome is a rare genetic disorder that is usually recognized shortly after birth. the term door is an acronym with each letter representing a common feature in affected individuals: (d)eafness due to a defect of the inner ear or auditory nerve; (o)nychodystrophy or malformation of the nails; (o)steodystrophy, meaning malformation of certain bones; and mild to profound mental (r)etardation, which is now referred to as intellectual disability. in some cases, individuals may also experience seizures. this condition is inherited in an autosomal recessive fashion; the exact genetic cause is unknown. last updated: 11/3/2011

MalaCards based summary : Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome, also known as digitorenocerebral syndrome, is related to door syndrome and autosomal dominant deafness-onychodystrophy syndrome, and has symptoms including seizures An important gene associated with Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include bone.

Genetics Home Reference : 25 DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have all of these features.

Related Diseases for Deafness Onychodystrophy Osteodystrophy and Mental Retardation...

Diseases related to Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 door syndrome 12.3
2 autosomal dominant deafness-onychodystrophy syndrome 10.9
3 deafness, congenital, with onychodystrophy, autosomal dominant 10.8
4 fryns syndrome 9.6
5 heart disease 9.6
6 status epilepticus 9.6

Graphical network of the top 20 diseases related to Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome:



Diseases related to Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome

Symptoms & Phenotypes for Deafness Onychodystrophy Osteodystrophy and Mental Retardation...

UMLS symptoms related to Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome:


seizures

Drugs & Therapeutics for Deafness Onychodystrophy Osteodystrophy and Mental Retardation...

Search Clinical Trials , NIH Clinical Center for Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome

Genetic Tests for Deafness Onychodystrophy Osteodystrophy and Mental Retardation...

Anatomical Context for Deafness Onychodystrophy Osteodystrophy and Mental Retardation...

MalaCards organs/tissues related to Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome:

39
Bone

Publications for Deafness Onychodystrophy Osteodystrophy and Mental Retardation...

Variations for Deafness Onychodystrophy Osteodystrophy and Mental Retardation...

ClinVar genetic disease variations for Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs398122965 GRCh37 Chromosome 16, 2546873: 2546873
2 TBC1D24 NM_001199107.1(TBC1D24): c.118C> T (p.Arg40Cys) single nucleotide variant Pathogenic rs398122966 GRCh37 Chromosome 16, 2546267: 2546267
3 TBC1D24 NM_001199107.1(TBC1D24): c.58C> G (p.Gln20Glu) single nucleotide variant Pathogenic rs201257588 GRCh37 Chromosome 16, 2546207: 2546207
4 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
5 TBC1D24 NM_001199107.1(TBC1D24): c.1206+5G> A single nucleotide variant Pathogenic rs398122968 GRCh37 Chromosome 16, 2549426: 2549426
6 TBC1D24 NM_001199107.1(TBC1D24): c.119G> T (p.Arg40Leu) single nucleotide variant Pathogenic rs760474458 GRCh38 Chromosome 16, 2496267: 2496267
7 TBC1D24 NM_001199107.1(TBC1D24): c.313T> C (p.Cys105Arg) single nucleotide variant Pathogenic rs797044547 GRCh38 Chromosome 16, 2496461: 2496461
8 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Pathogenic/Likely pathogenic rs747821285 GRCh38 Chromosome 16, 2496476: 2496476
9 TBC1D24 NM_001199107.1(TBC1D24): c.999G> T (p.Leu333Phe) single nucleotide variant Pathogenic rs797044548 GRCh38 Chromosome 16, 2498253: 2498253
10 TBC1D24 NM_001199107.1(TBC1D24): c.1460dupA (p.His487Glnfs) duplication Pathogenic rs797044549 GRCh38 Chromosome 16, 2500425: 2500425

Expression for Deafness Onychodystrophy Osteodystrophy and Mental Retardation...

Search GEO for disease gene expression data for Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome.

Pathways for Deafness Onychodystrophy Osteodystrophy and Mental Retardation...

GO Terms for Deafness Onychodystrophy Osteodystrophy and Mental Retardation...

Sources for Deafness Onychodystrophy Osteodystrophy and Mental Retardation...

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