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 53
Dominant Ano-Rectal Malformation, Nephritis and Nerve-Deafness 53
Deafness-Nephritis-Ano-Rectal Malformation Syndrome 59
Deafness - Nephritis - Ano-Rectal Malformation 53
Deafness Nephritis Ano Rectal Malformation 72
Lowe Kohn Cohen Syndrome 53
Lowe-Kohn-Cohen Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
lowe-kohn-cohen syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C2931080
Orphanet 59 ORPHA2408
UMLS 72 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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
2 anal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002023
3 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
4 preauricular skin tag 59 32 frequent (33%) Frequent (79-30%) HP:0000384
5 anorectal anomaly 59 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:

41
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? 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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