MCID: DFN014
MIFTS: 15

Deafness Nephritis Anorectal Malformation

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

Aliases & Classifications for Deafness Nephritis Anorectal Malformation

MalaCards integrated aliases for Deafness Nephritis Anorectal Malformation:

Name: Deafness Nephritis Anorectal Malformation 52
Dominant Ano-Rectal Malformation, Nephritis and Nerve-Deafness 52
Deafness-Nephritis-Ano-Rectal Malformation Syndrome 58
Deafness - Nephritis - Ano-Rectal Malformation 52
Deafness Nephritis Ano Rectal Malformation 71
Lowe Kohn Cohen Syndrome 52
Lowe-Kohn-Cohen Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
lowe-kohn-cohen syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C2931080
Orphanet 58 ORPHA2408
UMLS 71 C2931080

Summaries for Deafness Nephritis Anorectal Malformation

MalaCards based summary : Deafness Nephritis Anorectal Malformation, also known as dominant ano-rectal malformation, nephritis and nerve-deafness, is related to anorectal anomalies and branchiootic syndrome 1. Affiliated tissues include skin, and related phenotypes are nephropathy and anal atresia

Related Diseases for Deafness Nephritis Anorectal Malformation

Diseases related to Deafness Nephritis Anorectal Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anorectal anomalies 10.4
2 branchiootic syndrome 1 10.4
3 alport syndrome 10.4

Symptoms & Phenotypes for Deafness Nephritis Anorectal Malformation

Human phenotypes related to Deafness Nephritis Anorectal Malformation:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
2 anal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002023
3 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
4 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
5 anorectal anomaly 58 Very frequent (99-80%)

Drugs & Therapeutics for Deafness Nephritis Anorectal Malformation

Search Clinical Trials , NIH Clinical Center for Deafness Nephritis Anorectal Malformation

Genetic Tests for Deafness Nephritis Anorectal Malformation

Anatomical Context for Deafness Nephritis Anorectal Malformation

MalaCards organs/tissues related to Deafness Nephritis Anorectal Malformation:

40
Skin

Publications for Deafness Nephritis Anorectal Malformation

Articles related to Deafness Nephritis Anorectal Malformation:

# Title Authors PMID Year
1
Dominant ano-rectal malformation, nephritis and nerve-deafness: a possible new entity? 61
6627722 1983

Variations for Deafness Nephritis Anorectal Malformation

Expression for Deafness Nephritis Anorectal Malformation

Search GEO for disease gene expression data for Deafness Nephritis Anorectal Malformation.

Pathways for Deafness Nephritis Anorectal Malformation

GO Terms for Deafness Nephritis Anorectal Malformation

Sources for Deafness Nephritis Anorectal Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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