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Ataxia - deafness - intellectual disability syndrome

MedGen UID:
208659
•Concept ID:
C0796045
•
Disease or Syndrome
Synonyms: ADR syndrome; Ataxia, hearing loss, and mental retardation; Ataxia-deafness-retardation syndrome; Familial ataxia, deafness, and developmental delay; Reardon Wilson Cavanagh syndrome
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008838
OMIM®: 208850
Orphanet: ORPHA1188

Definition

A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993. [from ORDO]

Clinical features

From HPO
Progressive sensorineural hearing impairment
MedGen UID:
335894
•Concept ID:
C1843156
•
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
See: Feature record | Search on this feature
Cerebellar ataxia
MedGen UID:
849
•Concept ID:
C0007758
•
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtaxia - deafness - intellectual disability syndrome
Follow this link to review classifications for Ataxia - deafness - intellectual disability syndrome in Orphanet.

Recent clinical studies

Etiology

Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.
Mir A, Chaudhary M, Alkhaldi H, Alhazmi R, Albaradie R, Housawi Y
Brain Dev 2019 Sep;41(8):706-715. Epub 2019 Apr 2 doi: 10.1016/j.braindev.2019.03.009. PMID: 30952461
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
Cross JH, Arora R, Heckemann RA, Gunny R, Chong K, Carr L, Baldeweg T, Differ AM, Lench N, Varadkar S, Sirimanna T, Wassmer E, Hulton SA, Ognjanovic M, Ramesh V, Feather S, Kleta R, Hammers A, Bockenhauer D
Dev Med Child Neurol 2013 Sep;55(9):846-56. doi: 10.1111/dmcn.12171. PMID: 23924083Free PMC Article

Diagnosis

EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
Celmina M, Micule I, Inashkina I, Audere M, Kuske S, Pereca J, Stavusis J, Pelnena D, Strautmanis J
Clin Genet 2019 Jan;95(1):63-78. Epub 2018 Jul 8 doi: 10.1111/cge.13374. PMID: 29722015
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Parrock S, Hussain S, Issler N, Differ AM, Lench N, Guarino S, Oosterveld MJ, Keijzer-Veen M, Brilstra E, van Wieringen H, Konijnenberg AY, Amin-Rasip S, Dumitriu S, Klootwijk E, Knoers N, Bockenhauer D, Kleta R, Zdebik AA
Nephron Physiol 2013;123(3-4):7-14. Epub 2013 Nov 2 doi: 10.1159/000356353. PMID: 24193250
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
Cross JH, Arora R, Heckemann RA, Gunny R, Chong K, Carr L, Baldeweg T, Differ AM, Lench N, Varadkar S, Sirimanna T, Wassmer E, Hulton SA, Ognjanovic M, Ramesh V, Feather S, Kleta R, Hammers A, Bockenhauer D
Dev Med Child Neurol 2013 Sep;55(9):846-56. doi: 10.1111/dmcn.12171. PMID: 23924083Free PMC Article
Pediatric neurology.
Baird HW
Prog Neurol Psychiatry 1969;24:241-54. PMID: 4244101
MENTAL RETARDATION: METHODS OF DIAGNOSIS AND SOME RECENTLY DESCRIBED SYNDROMES.
RICHARDS BW
Can Med Assoc J 1963 Nov 16;89(20):1024-9. PMID: 14081787Free PMC Article

Therapy

Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.
Mir A, Chaudhary M, Alkhaldi H, Alhazmi R, Albaradie R, Housawi Y
Brain Dev 2019 Sep;41(8):706-715. Epub 2019 Apr 2 doi: 10.1016/j.braindev.2019.03.009. PMID: 30952461
The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.
Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. PMID: 20852892
Oculocerebral hypopigmentation syndrome associated with Bartter syndrome.
White CP, Waldron M, Jan JE, Carter JE
Am J Med Genet 1993 Jun 15;46(5):592-6. doi: 10.1002/ajmg.1320460526. PMID: 8322826

Prognosis

Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.
Mir A, Chaudhary M, Alkhaldi H, Alhazmi R, Albaradie R, Housawi Y
Brain Dev 2019 Sep;41(8):706-715. Epub 2019 Apr 2 doi: 10.1016/j.braindev.2019.03.009. PMID: 30952461
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
Celmina M, Micule I, Inashkina I, Audere M, Kuske S, Pereca J, Stavusis J, Pelnena D, Strautmanis J
Clin Genet 2019 Jan;95(1):63-78. Epub 2018 Jul 8 doi: 10.1111/cge.13374. PMID: 29722015
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
Cross JH, Arora R, Heckemann RA, Gunny R, Chong K, Carr L, Baldeweg T, Differ AM, Lench N, Varadkar S, Sirimanna T, Wassmer E, Hulton SA, Ognjanovic M, Ramesh V, Feather S, Kleta R, Hammers A, Bockenhauer D
Dev Med Child Neurol 2013 Sep;55(9):846-56. doi: 10.1111/dmcn.12171. PMID: 23924083Free PMC Article
Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.
Kremer H, Hamel BC, van den Helm B, Arts WF, de Wijs IJ, Sistermans EA, Ropers HH, Mariman EC
Hum Genet 1996 Nov;98(5):513-7. doi: 10.1007/s004390050250. PMID: 8882866
MENTAL RETARDATION: METHODS OF DIAGNOSIS AND SOME RECENTLY DESCRIBED SYNDROMES.
RICHARDS BW
Can Med Assoc J 1963 Nov 16;89(20):1024-9. PMID: 14081787Free PMC Article

Clinical prediction guides

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S
Eur J Med Genet 2020 Nov;63(11):104033. Epub 2020 Aug 8 doi: 10.1016/j.ejmg.2020.104033. PMID: 32781272
SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.
Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP
Pediatr Nephrol 2012 Nov;27(11):2081-2090. Epub 2012 Aug 21 doi: 10.1007/s00467-012-2219-4. PMID: 22907601
The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.
Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. PMID: 20852892
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
Scholl UI, Choi M, Liu T, Ramaekers VT, Häusler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP
Proc Natl Acad Sci U S A 2009 Apr 7;106(14):5842-7. Epub 2009 Mar 16 doi: 10.1073/pnas.0901749106. PMID: 19289823Free PMC Article
MENTAL RETARDATION: METHODS OF DIAGNOSIS AND SOME RECENTLY DESCRIBED SYNDROMES.
RICHARDS BW
Can Med Assoc J 1963 Nov 16;89(20):1024-9. PMID: 14081787Free PMC Article

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