ADFN
MCID: ALB003
MIFTS: 31

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 56 52 58 13 71
Albinism Deafness Syndrome 74 52
Alds 56 52
Adfn 56

Characteristics:

Orphanet epidemiological data:

58
albinism-deafness syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
x-linked


HPO:

31
albinism-deafness syndrome:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 300700
MESH via Orphanet 44 C537042
ICD10 via Orphanet 33 H90.5
UMLS via Orphanet 72 C1845068
Orphanet 58 ORPHA998
MedGen 41 C1845068
UMLS 71 C1845068

Summaries for Albinism-Deafness Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 998 Definition A rare disorder 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 liver, skin and lung, and related phenotypes are neurological speech impairment and sensorineural hearing impairment

Wikipedia : 74 Albinism-deafness syndrome is a condition characterized by congenital neural deafness and a severe or... more...

More information 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 top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 tietz albinism-deafness syndrome 12.9
2 adrenoleukodystrophy 12.6
3 x-linked cerebral adrenoleukodystrophy 12.1
4 adrenomyeloneuropathy 11.7
5 d-bifunctional protein deficiency 11.2
6 liver disease 10.5
7 branchiootic syndrome 1 10.4
8 albinism 10.4
9 non-alcoholic fatty liver disease 10.3
10 fatty liver disease 10.3
11 neural tube defects 10.3
12 premature ovarian failure 7 10.3
13 waardenburg's syndrome 10.2
14 ataxia and polyneuropathy, adult-onset 10.2
15 demyelinating disease 10.2
16 peroxisomal disease 10.2
17 triiodothyronine receptor auxiliary protein 10.1
18 fatty liver disease, nonalcoholic 1 10.1
19 non-alcoholic steatohepatitis 10.1
20 leukodystrophy 10.1
21 liver cirrhosis 10.1
22 inherited metabolic disorder 10.1
23 zellweger syndrome 10.1
24 spastic paraparesis 10.1
25 hypomelanosis of ito 10.1
26 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 10.1
27 pigmentation disease 10.1
28 amyotrophic lateral sclerosis 1 10.0
29 hepatocellular carcinoma 10.0
30 fibrosis of extraocular muscles, congenital, 1 10.0
31 attention deficit-hyperactivity disorder 10.0
32 cerebrotendinous xanthomatosis 10.0
33 hypoadrenocorticism, familial 10.0
34 ocular motor apraxia 10.0
35 polycythemia vera 10.0
36 adrenal hypoplasia, congenital 10.0
37 xanthomatosis 10.0
38 muscle hypertrophy 10.0
39 neu-laxova syndrome 2 10.0
40 autoimmune lymphoproliferative syndrome, type v 10.0
41 lung disease, immunodeficiency, and chromosome breakage syndrome 10.0
42 peripheral vascular disease 10.0
43 limb ischemia 10.0
44 ameloblastoma 10.0
45 lymphoproliferative syndrome 10.0
46 tabes dorsalis 10.0
47 osteomyelitis 10.0
48 portal hypertension 10.0
49 hydrocephalus 10.0
50 hemosiderosis 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

Human phenotypes related to Albinism-Deafness Syndrome:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
4 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
5 partial albinism 58 31 frequent (33%) Frequent (79-30%) HP:0007443
6 piebaldism 58 31 frequent (33%) Frequent (79-30%) HP:0007544
7 heterochromia iridis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001100
8 abnormality of the eye 31 HP:0000478
9 patchy hypo- and hyperpigmentation 31 HP:0007509
10 congenital sensorineural hearing impairment 31 HP:0008527
11 albinism 31 HP:0001022

Symptoms via clinical synopsis from OMIM:

56
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:

40
Liver, Skin, Lung, Eye, Heart, Lymph Node, Brain

Publications for Albinism-Deafness Syndrome

Articles related to Albinism-Deafness Syndrome:

(show top 50) (show all 118)
# Title Authors PMID Year
1
X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis. 61 56
8599367 1995
2
Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. 61 56
2349949 1990
3
Homozygosity for Waardenburg syndrome. 56
7726174 1995
4
Hearing impairment in female carriers of the sex-linked syndrome of deafness with albinism. 56
5801459 1969
5
Pigmentary disorders in association with congenital deafness. 56
6018993 1967
6
CONGENITAL DEAFNESS ASSOCIATED WITH PIEBALDNESS. 56
14327022 1965
7
ALBINISM AMONG INDIANS IN ARIZONA AND NEW MEXICO. 56
14255554 1965
8
Waardenbrug's syndrome. A variation of the first arch syndrome. 56
14018109 1962
9
Partial albinism and deaf-mutism due to a recessive sex-linked gene. 56
14003785 1962
10
A new hereditary syndrome--sex linked deafmutism associated with total albinism. 56
14469778 1962
11
Roseburia spp. Abundance Associates with Alcohol Consumption in Humans and Its Administration Ameliorates Alcoholic Fatty Liver in Mice. 61
31866426 2020
12
Comprehensive Analysis of Protein N-Terminome by Guanidination of Terminal Amines. 61
31846294 2020
13
Studying developmental processes in accelerated cohort-sequential designs with discrete- and continuous-time latent change score models. 61
30945901 2019
14
Distinct metabolic adaptation of liver circadian pathways to acute and chronic patterns of alcohol intake. 61
31757851 2019
15
A randomized controlled efficacy study of the Medido medication dispenser in Parkinson's disease. 61
31619184 2019
16
Estimating Age-Based Developmental Trajectories Using Latent Change Score Models Based on Measurement Occasion. 61
31448970 2019
17
Fixed- Versus Adjustable-Loop Devices for Femoral Fixation in Anterior Cruciate Ligament Reconstruction: A Systematic Review. 61
31147109 2019
18
Physical impairment and perceived general health preceding critical illness is predictive of survival. 61
30745286 2019
19
Development and Deployment of Air-Launched Drifters from Small UAS. 61
31075892 2019
20
Using Movement Sensors to Assess Lying Time in Horses With and Without Angular Limb Deformities. 61
31002093 2019
21
Optic nerve head cupping in glaucomatous and non-glaucomatous optic neuropathy. 61
29793928 2019
22
Benefits of Compression Amplification in Telephone Bluetooth-Assistive Listening Devices for People with Hearing Loss. 61
30461395 2019
23
Alanine dehydrogenases in mycobacteria. 61
30706339 2019
24
Disease progression in women with X-linked adrenoleukodystrophy is slow. 61
30732635 2019
25
Precision Treatment of Adult Lumbar Degenerative Scoliosis Complicated by Lumbar Stenosis with the Use of Selective Nerve Root Block. 61
30196177 2018
26
Intraoperative Preconditioning of Fixed and Adjustable Loop Suspensory Anterior Cruciate Ligament Reconstruction With Tibial Screw Fixation-An In Vitro Biomechanical Evaluation Using a Porcine Model. 61
30037573 2018
27
Minimizing Risk Associated With Older Liver Donors by Matching to Preferred Recipients: A National Registry and Validation Study. 61
29570165 2018
28
Radiographic and clinical outcomes following MIS-TLIF in patients with adult lumbar degenerative scoliosis. 61
29673371 2018
29
Clinical analysis of liver transplantation in autoimmune liver diseases. 61
29428100 2018
30
Differences in Riverine and Pond Water Dissolved Organic Matter Composition and Sources in Canadian High Arctic Watersheds Affected by Active Layer Detachments. 61
29301070 2018
31
Integrated respiratory and palliative care may improve outcomes in advanced lung disease. 61
29707561 2018
32
Sepsis in alcohol-related liver disease. 61
28647569 2017
33
Farnesoid X Receptor Agonist Treatment Alters Bile Acid Metabolism but Exacerbates Liver Damage in a Piglet Model of Short-Bowel Syndrome. 61
28560290 2017
34
Heterologous biosynthesis and manipulation of crocetin in Saccharomyces cerevisiae. 61
28356104 2017
35
Functional hearing in the classroom: assistive listening devices for students with hearing impairment in a mainstream school setting. 61
27609144 2016
36
Activities of daily living and quality of life during treatment with neoadjuvant chemoradiotherapy and after surgery in patients with esophageal cancer. 61
27761914 2016
37
[Distribution Characteristics and Source Identification of Organochlorine Pesticides in the Karst Groundwater System]. 61
29964769 2016
38
Effectiveness of a 6-year multidomain vascular care intervention to prevent dementia (preDIVA): a cluster-randomised controlled trial. 61
27474376 2016
39
Rheumatic Disease Autoantibodies in Autoimmune Liver Diseases. 61
27409579 2016
40
Construction of Nanodroplet/Adiposome and Artificial Lipid Droplets. 61
26910792 2016
41
Replacement of the initial steps of ethanol metabolism in Saccharomyces cerevisiae by ATP-independent acetylating acetaldehyde dehydrogenase. 61
26818854 2016
42
RORĪ± switches transcriptional mode of ERRĪ³ that results in transcriptional repression of CYP2E1 under ethanol-exposure. 61
26464440 2016
43
Structural investigation of Ru/Pt nanocomposite films prepared by plasma-enhanced atomic layer depositions. 61
25910429 2015
44
Establishment of the tree shrew as an alcohol-induced Fatty liver model for the study of alcoholic liver diseases. 61
26030870 2015
45
A review of assistive listening device and digital wireless technology for hearing instruments. 61
25566400 2014
46
Biomechanical strain vehicles for fibroblast-directed skeletal myoblast differentiation and myotube functionality in a novel coculture. 61
25122874 2014
47
Annexation of a high-activity enzyme in a synthetic three-enzyme complex greatly decreases the degree of substrate channeling. 61
24283966 2014
48
Unsaturated aldehydes induce CCK secretion via TRPA1 in STC-1 cells. 61
24357536 2014
49
Communicating with assistive listening devices and age-related hearing loss: Perceptions of older Australians. 61
25267134 2014
50
Communicating with Assistive Listening Devices and Age-Related Hearing Loss: Perceptions of Older Australians. 61
24484316 2014

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
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
Content
Loading form....