ADFN
MCID: ALB003
MIFTS: 28

Albinism-Deafness Syndrome (ADFN)

Categories: Ear diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Albinism-Deafness Syndrome

MalaCards integrated aliases for Albinism-Deafness Syndrome:

Name: Albinism-Deafness Syndrome 58 54 60 13 74
Albinism Deafness Syndrome 77 54
Alds 58 54
Adfn 58

Characteristics:

Orphanet epidemiological data:

60
albinism-deafness syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
x-linked


HPO:

33
albinism-deafness syndrome:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 300700
MESH via Orphanet 46 C537042
ICD10 via Orphanet 35 H90.5
UMLS via Orphanet 75 C1845068
Orphanet 60 ORPHA998
MedGen 43 C1845068
UMLS 74 C1845068

Summaries for Albinism-Deafness Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 998Disease definitionAlbinism-deafness syndrome (ADFN) is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.Visit the Orphanet disease page for more resources.

MalaCards based summary : Albinism-Deafness Syndrome, also known as albinism deafness syndrome, is related to tietz albinism-deafness syndrome and adrenoleukodystrophy. An important gene associated with Albinism-Deafness Syndrome is ADFN (Albinism-Deafness Syndrome). Affiliated tissues include skin, liver and eye, and related phenotypes are neurological speech impairment and sensorineural hearing impairment

Wikipedia : 77 Albinism–deafness syndrome is a condition characterized by congenital neural deafness and a severe or... more...

Description from OMIM: 300700

Related Diseases for Albinism-Deafness Syndrome

Graphical network of the top 20 diseases related to Albinism-Deafness Syndrome:



Diseases related to Albinism-Deafness Syndrome

Symptoms & Phenotypes for Albinism-Deafness Syndrome

Human phenotypes related to Albinism-Deafness Syndrome:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
2 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
3 hypopigmented skin patches 60 33 hallmark (90%) Very frequent (99-80%) HP:0001053
4 irregular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007400
5 partial albinism 60 33 frequent (33%) Frequent (79-30%) HP:0007443
6 piebaldism 60 33 frequent (33%) Frequent (79-30%) HP:0007544
7 heterochromia iridis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001100
8 abnormality of the eye 33 HP:0000478
9 congenital sensorineural hearing impairment 33 HP:0008527
10 patchy hypo- and hyperpigmentation 33 HP:0007509
11 albinism 33 HP:0001022

Symptoms via clinical synopsis from OMIM:

58
Ears:
congenital neurosensory deafness

Eyes:
no ocular albinism

Skin:
patchy hypo- and hyper-pigmentation
piebald pigmentary variegation

Misc:
hearing impairment in heterozygotes

Clinical features from OMIM:

300700

Drugs & Therapeutics for Albinism-Deafness Syndrome

Search Clinical Trials , NIH Clinical Center for Albinism-Deafness Syndrome

Genetic Tests for Albinism-Deafness Syndrome

Anatomical Context for Albinism-Deafness Syndrome

MalaCards organs/tissues related to Albinism-Deafness Syndrome:

42
Skin, Liver, Eye, Heart, Neutrophil

Publications for Albinism-Deafness Syndrome

Articles related to Albinism-Deafness Syndrome:

# Title Authors Year
1
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). ( 9546825 )
1998
2
Toward expression mapping of albinism-deafness syndrome (ADFN) locus on chromosome Xq26. ( 9919313 )
1998
3
X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis. ( 8599367 )
1995
4
Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. ( 2349949 )
1990

Variations for Albinism-Deafness Syndrome

Expression for Albinism-Deafness Syndrome

Search GEO for disease gene expression data for Albinism-Deafness Syndrome.

Pathways for Albinism-Deafness Syndrome

GO Terms for Albinism-Deafness Syndrome

Sources for Albinism-Deafness Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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