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 57 53 59 13 72
Albinism Deafness Syndrome 75 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
MESH via Orphanet 45 C537042
ICD10 via Orphanet 34 H90.5
UMLS via Orphanet 73 C1845068
Orphanet 59 ORPHA998
MedGen 42 C1845068
UMLS 72 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: 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 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 : 75 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 68)
# Related Disease Score Top Affiliating Genes
1 tietz albinism-deafness syndrome 12.8
2 adrenoleukodystrophy 12.6
3 childhood-onset cerebral x-linked 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 fatty liver disease, nonalcoholic 1 10.1
18 non-alcoholic steatohepatitis 10.1
19 leukodystrophy 10.1
20 liver cirrhosis 10.1
21 inherited metabolic disorder 10.1
22 zellweger syndrome 10.1
23 spastic paraparesis 10.1
24 hematopoietic stem cell transplantation 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 triiodothyronine receptor auxiliary protein 10.0
33 cerebrotendinous xanthomatosis 10.0
34 hypoadrenocorticism, familial 10.0
35 ocular motor apraxia 10.0
36 polycythemia vera 10.0
37 adrenal hypoplasia, congenital 10.0
38 xanthomatosis 10.0
39 muscle hypertrophy 10.0
40 neu-laxova syndrome 2 10.0
41 autoimmune lymphoproliferative syndrome, type v 10.0
42 lung disease, immunodeficiency, and chromosome breakage syndrome 10.0
43 peripheral vascular disease 10.0
44 limb ischemia 10.0
45 ameloblastoma 10.0
46 lymphoproliferative syndrome 10.0
47 tabes dorsalis 10.0
48 osteomyelitis 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:

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 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
5 partial albinism 59 32 frequent (33%) Frequent (79-30%) HP:0007443
6 piebaldism 59 32 frequent (33%) Frequent (79-30%) HP:0007544
7 heterochromia iridis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001100
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

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

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, Liver, Eye, Brain, Lung, Kidney, Lymph Node

Publications for Albinism-Deafness Syndrome

Articles related to Albinism-Deafness Syndrome:

(show top 50) (show all 113)
# Title Authors PMID Year
1
X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis. 38 8
8599367 1995
2
Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. 38 8
2349949 1990
3
Homozygosity for Waardenburg syndrome. 8
7726174 1995
4
Hearing impairment in female carriers of the sex-linked syndrome of deafness with albinism. 8
5801459 1969
5
Pigmentary disorders in association with congenital deafness. 8
6018993 1967
6
CONGENITAL DEAFNESS ASSOCIATED WITH PIEBALDNESS. 8
14327022 1965
7
ALBINISM AMONG INDIANS IN ARIZONA AND NEW MEXICO. 8
14255554 1965
8
Waardenbrug's syndrome. A variation of the first arch syndrome. 8
14018109 1962
9
Partial albinism and deaf-mutism due to a recessive sex-linked gene. 8
14003785 1962
10
A new hereditary syndrome--sex linked deafmutism associated with total albinism. 8
14469778 1962
11
Fixed- Versus Adjustable-Loop Devices for Femoral Fixation in Anterior Cruciate Ligament Reconstruction: A Systematic Review. 38
31147109 2019
12
Physical impairment and perceived general health preceding critical illness is predictive of survival. 38
30745286 2019
13
Development and Deployment of Air-Launched Drifters from Small UAS. 38
31075892 2019
14
Studying developmental processes in accelerated cohort-sequential designs with discrete- and continuous-time latent change score models. 38
30945901 2019
15
Using Movement Sensors to Assess Lying Time in Horses With and Without Angular Limb Deformities. 38
31002093 2019
16
Benefits of Compression Amplification in Telephone Bluetooth-Assistive Listening Devices for People with Hearing Loss. 38
30461395 2019
17
Optic nerve head cupping in glaucomatous and non-glaucomatous optic neuropathy. 38
29793928 2019
18
Alanine dehydrogenases in mycobacteria. 38
30706339 2019
19
Disease progression in women with X-linked adrenoleukodystrophy is slow. 38
30732635 2019
20
Precision Treatment of Adult Lumbar Degenerative Scoliosis Complicated by Lumbar Stenosis with the Use of Selective Nerve Root Block. 38
30196177 2018
21
Minimizing Risk Associated With Older Liver Donors by Matching to Preferred Recipients: A National Registry and Validation Study. 38
29570165 2018
22
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. 38
30037573 2018
23
Radiographic and clinical outcomes following MIS-TLIF in patients with adult lumbar degenerative scoliosis. 38
29673371 2018
24
Clinical analysis of liver transplantation in autoimmune liver diseases. 38
29428100 2018
25
Differences in Riverine and Pond Water Dissolved Organic Matter Composition and Sources in Canadian High Arctic Watersheds Affected by Active Layer Detachments. 38
29301070 2018
26
Integrated respiratory and palliative care may improve outcomes in advanced lung disease. 38
29707561 2018
27
Sepsis in alcohol-related liver disease. 38
28647569 2017
28
Farnesoid X Receptor Agonist Treatment Alters Bile Acid Metabolism but Exacerbates Liver Damage in a Piglet Model of Short-Bowel Syndrome. 38
28560290 2017
29
Heterologous biosynthesis and manipulation of crocetin in Saccharomyces cerevisiae. 38
28356104 2017
30
Functional hearing in the classroom: assistive listening devices for students with hearing impairment in a mainstream school setting. 38
27609144 2016
31
Activities of daily living and quality of life during treatment with neoadjuvant chemoradiotherapy and after surgery in patients with esophageal cancer. 38
27761914 2016
32
[Distribution Characteristics and Source Identification of Organochlorine Pesticides in the Karst Groundwater System]. 38
29964769 2016
33
Effectiveness of a 6-year multidomain vascular care intervention to prevent dementia (preDIVA): a cluster-randomised controlled trial. 38
27474376 2016
34
Rheumatic Disease Autoantibodies in Autoimmune Liver Diseases. 38
27409579 2016
35
Construction of Nanodroplet/Adiposome and Artificial Lipid Droplets. 38
26910792 2016
36
Replacement of the initial steps of ethanol metabolism in Saccharomyces cerevisiae by ATP-independent acetylating acetaldehyde dehydrogenase. 38
26818854 2016
37
RORĪ± switches transcriptional mode of ERRĪ³ that results in transcriptional repression of CYP2E1 under ethanol-exposure. 38
26464440 2016
38
Structural investigation of Ru/Pt nanocomposite films prepared by plasma-enhanced atomic layer depositions. 38
25910429 2015
39
Establishment of the tree shrew as an alcohol-induced Fatty liver model for the study of alcoholic liver diseases. 38
26030870 2015
40
A review of assistive listening device and digital wireless technology for hearing instruments. 38
25566400 2014
41
Biomechanical strain vehicles for fibroblast-directed skeletal myoblast differentiation and myotube functionality in a novel coculture. 38
25122874 2014
42
Annexation of a high-activity enzyme in a synthetic three-enzyme complex greatly decreases the degree of substrate channeling. 38
24283966 2014
43
Unsaturated aldehydes induce CCK secretion via TRPA1 in STC-1 cells. 38
24357536 2014
44
Communicating with Assistive Listening Devices and Age-Related Hearing Loss: Perceptions of Older Australians. 38
24484316 2014
45
Communicating with assistive listening devices and age-related hearing loss: Perceptions of older Australians. 38
25267134 2014
46
Integrated multidisciplinary care in Parkinson's disease: a non-randomised, controlled trial (IMPACT). 38
23988337 2013
47
Changes in functional status after treatment of critical limb ischemia. 38
24075105 2013
48
Inflammation and MMPs in alcohol-induced liver diseases and protective action of antioxidants. 38
24772959 2013
49
Spinal dural arteriovenous fistulas--presentation, management and outcome in a single neurosurgical institution. 38
24350764 2013
50
Change in health insurance coverage in Massachusetts and other New England States by perceived health status: potential impact of health reform. 38
23597359 2013

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 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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