ADFN
MCID: ALB003
MIFTS: 29

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 57 53 59 13 73
Albinism Deafness Syndrome 76 53
Alds 57 53
Adfn 57

Characteristics:

Orphanet epidemiological data:

59
albinism-deafness syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
x-linked


HPO:

32
albinism-deafness syndrome:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 300700
Orphanet 59 ORPHA998
ICD10 via Orphanet 34 H90.5
MESH via Orphanet 45 C537042
UMLS via Orphanet 74 C1845068
MedGen 42 C1845068
UMLS 73 C1845068

Summaries for Albinism-Deafness Syndrome

NIH Rare Diseases : 53 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, eye and liver, and related phenotypes are neurological speech impairment and sensorineural hearing impairment

Wikipedia : 76 Albinism´┐Ż??deafness syndrome (also known as "Woolf syndrome" and "Ziprkowski´┐Ż??Margolis syndrome") is a... more...

Description from OMIM: 300700

Related Diseases for Albinism-Deafness Syndrome

Diseases in the Albinism-Deafness Syndrome family:

Deafness, Congenital, with Total Albinism

Diseases related to Albinism-Deafness Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 tietz albinism-deafness syndrome 12.7
2 adrenoleukodystrophy 12.4
3 childhood-onset cerebral x-linked adrenoleukodystrophy 11.9
4 adrenomyeloneuropathy 11.5
5 perrault syndrome 1 11.1
6 d-bifunctional protein deficiency 11.1
7 albinism 10.4
8 liver disease 10.2
9 neural tube defects 10.1
10 waardenburg's syndrome 10.1
11 adamantinoma of long bones 10.0
12 hypoadrenocorticism, familial 10.0
13 ameloblastoma 10.0
14 cholera 10.0
15 demyelinating disease 10.0
16 diastolic heart failure 10.0

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



Diseases related to Albinism-Deafness Syndrome

Symptoms & Phenotypes for Albinism-Deafness Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Albinism-Deafness Syndrome:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
2 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
3 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
4 heterochromia iridis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001100
5 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
6 partial albinism 59 32 frequent (33%) Frequent (79-30%) HP:0007443
7 piebaldism 59 32 frequent (33%) Frequent (79-30%) HP:0007544
8 abnormality of the eye 32 HP:0000478
9 congenital sensorineural hearing impairment 32 HP:0008527
10 patchy hypo- and hyperpigmentation 32 HP:0007509
11 albinism 32 HP:0001022

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:

41
Skin, Eye, Liver, Heart

Publications for Albinism-Deafness Syndrome

Articles related to Albinism-Deafness Syndrome:

# Title Authors Year
1
Toward expression mapping of albinism-deafness syndrome (ADFN) locus on chromosome Xq26. ( 9919313 )
1998
2
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). ( 9546825 )
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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