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Albinism-hearing loss syndrome(ADFN)

MedGen UID:
375573
Concept ID:
C1845068
Disease or Syndrome
Synonym: Albinism-deafness syndrome
SNOMED CT: Albinism with deafness syndrome (722285005)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0010403
OMIM®: 300700
Orphanet: ORPHA998

Definition

Syndrome with characteristics of congenital nerve deafness and piebaldness without ocular albinism. 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. [from SNOMEDCT_US]

Clinical features

From HPO
Congenital sensorineural hearing impairment
MedGen UID:
356101
Concept ID:
C1865866
Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
Albinism
MedGen UID:
182
Concept ID:
C0001916
Disease or Syndrome
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
Partial albinism
MedGen UID:
36361
Concept ID:
C0080024
Congenital Abnormality
Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004).
Patchy hypo- and hyperpigmentation
MedGen UID:
867215
Concept ID:
C4021573
Disease or Syndrome
Abnormality of the eye
MedGen UID:
1370071
Concept ID:
C4316870
Anatomical Abnormality
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlbinism-hearing loss syndrome
Follow this link to review classifications for Albinism-hearing loss syndrome in Orphanet.

Professional guidelines

PubMed

Tomkins M, Lawless S, Martin-Grace J, Sherlock M, Thompson CJ
J Clin Endocrinol Metab 2022 Sep 28;107(10):2701-2715. doi: 10.1210/clinem/dgac381. PMID: 35771962Free PMC Article
Pouwels S, Sakran N, Graham Y, Leal A, Pintar T, Yang W, Kassir R, Singhal R, Mahawar K, Ramnarain D
BMC Endocr Disord 2022 Mar 14;22(1):63. doi: 10.1186/s12902-022-00980-1. PMID: 35287643Free PMC Article
Camilleri M
JAMA 2021 Mar 2;325(9):865-877. doi: 10.1001/jama.2020.22532. PMID: 33651094

Recent clinical studies

Etiology

GBD 2019 Antimicrobial Resistance Collaborators
Lancet 2022 Dec 17;400(10369):2221-2248. Epub 2022 Nov 21 doi: 10.1016/S0140-6736(22)02185-7. PMID: 36423648Free PMC Article
Giudice V, Selleri C
Semin Hematol 2022 Jan;59(1):13-20. Epub 2022 Jan 5 doi: 10.1053/j.seminhematol.2021.12.002. PMID: 35491054
Lambeck J, Hieber M, Dreßing A, Niesen WD
Dtsch Arztebl Int 2019 Sep 2;116(35-36):600-606. doi: 10.3238/arztebl.2019.0600. PMID: 31587708Free PMC Article
Chen X, Mao G, Leng SX
Clin Interv Aging 2014;9:433-41. Epub 2014 Mar 19 doi: 10.2147/CIA.S45300. PMID: 24672230Free PMC Article
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Diagnosis

Lambeck J, Hieber M, Dreßing A, Niesen WD
Dtsch Arztebl Int 2019 Sep 2;116(35-36):600-606. doi: 10.3238/arztebl.2019.0600. PMID: 31587708Free PMC Article
Kagan R, Kellogg-Spadt S, Parish SJ
Drugs Aging 2019 Oct;36(10):897-908. doi: 10.1007/s40266-019-00700-w. PMID: 31452067Free PMC Article
Burkett JG, Ailani J
Curr Neurol Neurosci Rep 2018 May 2;18(6):33. doi: 10.1007/s11910-018-0839-1. PMID: 29721718
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Therapy

Carson JL, Stanworth SJ, Dennis JA, Trivella M, Roubinian N, Fergusson DA, Triulzi D, Dorée C, Hébert PC
Cochrane Database Syst Rev 2021 Dec 21;12(12):CD002042. doi: 10.1002/14651858.CD002042.pub5. PMID: 34932836Free PMC Article
Wang X, Li Q, Liu Y, Jiang H, Chen W
Diabetes Res Clin Pract 2021 Sep;179:109003. Epub 2021 Aug 12 doi: 10.1016/j.diabres.2021.109003. PMID: 34391831
Traish AM
Fertil Steril 2020 Jan;113(1):21-50. doi: 10.1016/j.fertnstert.2019.11.030. PMID: 32033719
Krejčí H, Vyjídák J, Kohutiar M
Vnitr Lek 2018 Fall;64(7-8):742-752. PMID: 30441982
Fearon K, Strasser F, Anker SD, Bosaeus I, Bruera E, Fainsinger RL, Jatoi A, Loprinzi C, MacDonald N, Mantovani G, Davis M, Muscaritoli M, Ottery F, Radbruch L, Ravasco P, Walsh D, Wilcock A, Kaasa S, Baracos VE
Lancet Oncol 2011 May;12(5):489-95. Epub 2011 Feb 4 doi: 10.1016/S1470-2045(10)70218-7. PMID: 21296615

Prognosis

Rudd KE, Johnson SC, Agesa KM, Shackelford KA, Tsoi D, Kievlan DR, Colombara DV, Ikuta KS, Kissoon N, Finfer S, Fleischmann-Struzek C, Machado FR, Reinhart KK, Rowan K, Seymour CW, Watson RS, West TE, Marinho F, Hay SI, Lozano R, Lopez AD, Angus DC, Murray CJL, Naghavi M
Lancet 2020 Jan 18;395(10219):200-211. doi: 10.1016/S0140-6736(19)32989-7. PMID: 31954465Free PMC Article
Lambeck J, Hieber M, Dreßing A, Niesen WD
Dtsch Arztebl Int 2019 Sep 2;116(35-36):600-606. doi: 10.3238/arztebl.2019.0600. PMID: 31587708Free PMC Article
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Miller DH, Chard DT, Ciccarelli O
Lancet Neurol 2012 Feb;11(2):157-69. doi: 10.1016/S1474-4422(11)70274-5. PMID: 22265211
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Clinical prediction guides

Cornish EF, McDonnell T, Williams DJ
Front Immunol 2022;13:825075. Epub 2022 Apr 22 doi: 10.3389/fimmu.2022.825075. PMID: 35529853Free PMC Article
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B
Genes (Basel) 2021 Aug 30;12(9) doi: 10.3390/genes12091360. PMID: 34573342Free PMC Article
Vermeiren S, Vella-Azzopardi R, Beckwée D, Habbig AK, Scafoglieri A, Jansen B, Bautmans I; Gerontopole Brussels Study group
J Am Med Dir Assoc 2016 Dec 1;17(12):1163.e1-1163.e17. doi: 10.1016/j.jamda.2016.09.010. PMID: 27886869
Karussis D
J Autoimmun 2014 Feb-Mar;48-49:134-42. Epub 2014 Feb 10 doi: 10.1016/j.jaut.2014.01.022. PMID: 24524923
Miller DH, Chard DT, Ciccarelli O
Lancet Neurol 2012 Feb;11(2):157-69. doi: 10.1016/S1474-4422(11)70274-5. PMID: 22265211

Recent systematic reviews

Pereira PM, Baptista JS, Conceição F, Duarte J, Ferraz J, Costa JT
Int J Environ Res Public Health 2022 Jul 28;19(15) doi: 10.3390/ijerph19159241. PMID: 35954598Free PMC Article
Jafari Z, Kolb BE, Mohajerani MH
Can J Neurol Sci 2022 Mar;49(2):184-195. Epub 2021 Apr 12 doi: 10.1017/cjn.2021.63. PMID: 33843530Free PMC Article
Wang X, Li Q, Liu Y, Jiang H, Chen W
Diabetes Res Clin Pract 2021 Sep;179:109003. Epub 2021 Aug 12 doi: 10.1016/j.diabres.2021.109003. PMID: 34391831
Lazzaroni E, Ben Nasr M, Loretelli C, Pastore I, Plebani L, Lunati ME, Vallone L, Bolla AM, Rossi A, Montefusco L, Ippolito E, Berra C, D'Addio F, Zuccotti GV, Fiorina P
Pharmacol Res 2021 Sep;171:105782. Epub 2021 Jul 22 doi: 10.1016/j.phrs.2021.105782. PMID: 34302978
Whiting PF, Wolff RF, Deshpande S, Di Nisio M, Duffy S, Hernandez AV, Keurentjes JC, Lang S, Misso K, Ryder S, Schmidlkofer S, Westwood M, Kleijnen J
JAMA 2015 Jun 23-30;313(24):2456-73. doi: 10.1001/jama.2015.6358. PMID: 26103030

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