ADFN
MCID: ALB003
MIFTS: 34

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 20 58 13 71
Albinism Deafness Syndrome 74 20
Alds 57 20
Albinism-Hearing Loss Syndrome 58
Adfn 57

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®:

57 (Updated 05-Mar-2021)
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® 57 300700
MESH via Orphanet 45 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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 998DefinitionA 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 branchiootic syndrome 1. An important gene associated with Albinism-Deafness Syndrome is ADFN (Albinism-Deafness Syndrome). The drugs Ethanol and Altretamine have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and bone, 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:

# Related Disease Score Top Affiliating Genes
1 tietz albinism-deafness syndrome 11.7
2 branchiootic syndrome 1 10.3
3 albinism 10.3
4 waardenburg's syndrome 10.1
5 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 10.0
6 pigmentation disease 10.0
7 peripheral vascular disease 9.9
8 limb ischemia 9.9
9 intermittent claudication 9.9

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 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
4 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
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 congenital sensorineural hearing impairment 31 HP:0008527
10 albinism 31 HP:0001022
11 patchy hypo- and hyperpigmentation 31 HP:0007509

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Albinism-Deafness Syndrome

Drugs for Albinism-Deafness Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2
Altretamine Approved Phase 2 645-05-6 2123
3
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
4
Bezafibrate Approved, Investigational 41859-67-0 39042
5 Antimetabolites
6 Hypolipidemic Agents
7 Lipid Regulating Agents
8 Liver Extracts

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Open-Label Study With Ademetionine (Heptral®) in Subjects With Intrahepatic Cholestasis (IHC) Associated With Alcoholic Liver Disease (ALD) Completed NCT02200029 Phase 3 Ademetionine IV+tablet;Ademetionine tablet
2 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
3 A Phase 2 Randomized, Controlled Study With a Phase 1 Safety Cohort Testing ALD-401 Derived From Autologous Bone Marrow Delivered Via Intracarotid Infusion in Subjects With Ischemic Stroke With Blinded Assessments Unknown status NCT01273337 Phase 2
4 Clinical and MR Imaging Assessments in Patients With Intermittent Claudication Following Injection of Bone Marrow Derived ALDH Bright Cells Completed NCT01774097 Phase 2
5 A Phase I/II Clinical Trial of Lentiviral Hematopoietic Stem Cell Gene Therapy for Treatment of Developed Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
6 A Pilot Safety Study of the Administration of Bone Marrow Derived Stem Cells (ALD-451) in WHO Grade IV Malignant Glioma Completed NCT01639612 Phase 1
7 Treatment of Early Infantile-Onset Lysosomal Storage Diseases With Fetal Umbilical Cord Blood (UCB) Transplantation Withdrawn NCT01003912 Phase 1
8 A Prospective Safety, Tolerance, Pharmacodynamics and Pharmacokinetics Study of Sobetirome in Male Subjects Diagnosed With X-linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
9 Palliative Care Coaching for Family Caregivers & Patients With Rare Advanced Lung Disease Completed NCT03813667
10 Growth of High-Quality Oxides on The Inner Surface of ECMO Circuit by Atomic Layer Deposition to Reduce Thrombus Formation Completed NCT03662594
11 Effect of Bezafibrate on Very Long Chain Fatty Acid Metabolism in Men With X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Bezafibrate
12 Exercise Study of Function and Pathology for Women With X-ALD Completed NCT01594853
13 Adrenoleukodystrophy National Registry Study Recruiting NCT03789721
14 Comparison of ALD, NASH, and Healthy Control Patients Recruiting NCT03224949
15 Lentiviral Gene Therapy for X-linked Adrenoleukodystrophy (X-ALD) Recruiting NCT03727555
16 Quantitative MRI for Non-invasive Assessment of Severity of Alcoholic Liver Disease (ALD) Active, not recruiting NCT03113929
17 SMART-ALD - A New Lifestyle Intervention to Improve Physical and Mental Well-being and Quality of Life in Women With X-linked Adrenoleukodystrophy (X-ALD) Not yet recruiting NCT04687007
18 A Prospective and Retrospective Data Collection Study to Evaluate Outcomes in Males ≤17 Years of Age Undergoing Allogeneic Hematopoietic Stem Cell Transplantation for the Treatment of Cerebral Adrenoleukodystrophy Terminated NCT02204904
19 Objective Measurements of Lens Opacification After Intravitreal Injections (MOC-IVT) Withdrawn NCT03964597

Search 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, Bone Marrow, Bone, Eye, Lymph Node, Brain, Kidney

Publications for Albinism-Deafness Syndrome

Articles related to Albinism-Deafness Syndrome:

(show top 50) (show all 126)
# Title Authors PMID Year
1
X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis. 57 61
8599367 1995
2
Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. 57 61
2349949 1990
3
Homozygosity for Waardenburg syndrome. 57
7726174 1995
4
Hearing impairment in female carriers of the sex-linked syndrome of deafness with albinism. 57
5801459 1969
5
Pigmentary disorders in association with congenital deafness. 57
6018993 1967
6
CONGENITAL DEAFNESS ASSOCIATED WITH PIEBALDNESS. 57
14327022 1965
7
ALBINISM AMONG INDIANS IN ARIZONA AND NEW MEXICO. 57
14255554 1965
8
Waardenbrug's syndrome. A variation of the first arch syndrome. 57
14018109 1962
9
Partial albinism and deaf-mutism due to a recessive sex-linked gene. 57
14003785 1962
10
A new hereditary syndrome--sex linked deafmutism associated with total albinism. 57
14469778 1962
11
Ce4+-triggered cascade reaction for ratiometric fluorescence detection of alendronate. 61
33461138 2021
12
The three-spot seahorse-derived peptide PAGPRGPA attenuates ethanol-induced oxidative stress in LO2 cells through MAPKs, the Keap1/Nrf2 signalling pathway and amino acid metabolism. 61
33496711 2021
13
Investigation of acute, subacute and subchronic toxicities of anthocyanin derived acylation reaction products and evaluation of their antioxidant activities in vitro. 61
33283810 2020
14
Loop changes after knee flexion-extension movement in a cadaveric anterior cruciate reconstruction model. 61
32530878 2020
15
A hybrid therapeutic approach for decreasing postoperative complications in patients with adult lumbar degenerative scoliosis. 61
32791696 2020
16
Direct Oral Anticoagulants in Patients With Atrial Fibrillation and Advanced Liver Disease: An Exploratory Meta-Analysis. 61
32626835 2020
17
Estimating Age-Based Developmental Trajectories Using Latent Change Score Models Based on Measurement Occasion. 61
31448970 2020
18
Risk factors for recurrent autoimmune liver diseases after liver transplantation: A meta-analysis. 61
32443344 2020
19
COVID-19: Presumed Infection Routes and Psychological Impact on Staff in Administrative and Logistics Departments in a Designated Hospital in Wuhan, China. 61
32595580 2020
20
Roseburia spp. Abundance Associates with Alcohol Consumption in Humans and Its Administration Ameliorates Alcoholic Fatty Liver in Mice. 61
31866426 2020
21
Comprehensive Analysis of Protein N-Terminome by Guanidination of Terminal Amines. 61
31846294 2020
22
Studying developmental processes in accelerated cohort-sequential designs with discrete- and continuous-time latent change score models. 61
30945901 2019
23
Distinct metabolic adaptation of liver circadian pathways to acute and chronic patterns of alcohol intake. 61
31757851 2019
24
A randomized controlled efficacy study of the Medido medication dispenser in Parkinson's disease. 61
31619184 2019
25
Fixed- Versus Adjustable-Loop Devices for Femoral Fixation in Anterior Cruciate Ligament Reconstruction: A Systematic Review. 61
31147109 2019
26
Physical impairment and perceived general health preceding critical illness is predictive of survival. 61
30745286 2019
27
Development and Deployment of Air-Launched Drifters from Small UAS. 61
31075892 2019
28
Using Movement Sensors to Assess Lying Time in Horses With and Without Angular Limb Deformities. 61
31002093 2019
29
Benefits of Compression Amplification in Telephone Bluetooth-Assistive Listening Devices for People with Hearing Loss. 61
30461395 2019
30
Optic nerve head cupping in glaucomatous and non-glaucomatous optic neuropathy. 61
29793928 2019
31
Alanine dehydrogenases in mycobacteria. 61
30706339 2019
32
Disease progression in women with X-linked adrenoleukodystrophy is slow. 61
30732635 2019
33
Precision Treatment of Adult Lumbar Degenerative Scoliosis Complicated by Lumbar Stenosis with the Use of Selective Nerve Root Block. 61
30196177 2018
34
Minimizing Risk Associated With Older Liver Donors by Matching to Preferred Recipients: A National Registry and Validation Study. 61
29570165 2018
35
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
36
Radiographic and clinical outcomes following MIS-TLIF in patients with adult lumbar degenerative scoliosis. 61
29673371 2018
37
Clinical analysis of liver transplantation in autoimmune liver diseases. 61
29428100 2018
38
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
39
Integrated respiratory and palliative care may improve outcomes in advanced lung disease. 61
29707561 2018
40
Sepsis in alcohol-related liver disease. 61
28647569 2017
41
Farnesoid X Receptor Agonist Treatment Alters Bile Acid Metabolism but Exacerbates Liver Damage in a Piglet Model of Short-Bowel Syndrome. 61
28560290 2017
42
Heterologous biosynthesis and manipulation of crocetin in Saccharomyces cerevisiae. 61
28356104 2017
43
Functional hearing in the classroom: assistive listening devices for students with hearing impairment in a mainstream school setting. 61
27609144 2016
44
Activities of daily living and quality of life during treatment with neoadjuvant chemoradiotherapy and after surgery in patients with esophageal cancer. 61
27761914 2016
45
[Distribution Characteristics and Source Identification of Organochlorine Pesticides in the Karst Groundwater System]. 61
29964769 2016
46
Rheumatic Disease Autoantibodies in Autoimmune Liver Diseases. 61
27409579 2016
47
Effectiveness of a 6-year multidomain vascular care intervention to prevent dementia (preDIVA): a cluster-randomised controlled trial. 61
27474376 2016
48
Replacement of the initial steps of ethanol metabolism in Saccharomyces cerevisiae by ATP-independent acetylating acetaldehyde dehydrogenase. 61
26818854 2016
49
Construction of Nanodroplet/Adiposome and Artificial Lipid Droplets. 61
26910792 2016
50
RORα switches transcriptional mode of ERRγ that results in transcriptional repression of CYP2E1 under ethanol-exposure. 61
26464440 2016

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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