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Syndromic X-linked intellectual disability 17(MRXS17)

MedGen UID:
477091
Concept ID:
C3275460
Mental or Behavioral Dysfunction
Synonyms: MENTAL RETARDATION, X-LINKED, WITH ALACRIMA AND ACHALASIA; MRXS17
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:0010460
OMIM®: 300858
Orphanet: ORPHA289483

Definition

Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals. [from ORDO]

Clinical features

From HPO
Achalasia
MedGen UID:
5023
Concept ID:
C0014848
Disease or Syndrome
A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
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.
Abnormality of adrenal physiology
MedGen UID:
868802
Concept ID:
C4023212
Pathologic Function
A functional abnormality of the adrenal glands.
Anisocoria
MedGen UID:
1944
Concept ID:
C0003079
Finding
Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
Alacrima
MedGen UID:
87488
Concept ID:
C0344505
Disease or Syndrome
Absence of tear secretion.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSyndromic X-linked intellectual disability 17
Follow this link to review classifications for Syndromic X-linked intellectual disability 17 in Orphanet.

Professional guidelines

PubMed

Elhawary NA, AlJahdali IA, Abumansour IS, Azher ZA, Falemban AH, Madani WM, Alosaimi W, Alghamdi G, Sindi IA
Hum Genomics 2023 Jul 7;17(1):60. doi: 10.1186/s40246-023-00507-2. PMID: 37420260Free PMC Article
D'Avanzo F, Rigon L, Zanetti A, Tomanin R
Int J Mol Sci 2020 Feb 13;21(4) doi: 10.3390/ijms21041258. PMID: 32070051Free PMC Article
Cheng H, Du C, Zhang Y, James AF, Dempsey CE, Abdala AP, Hancox JC
J Mol Cell Cardiol 2019 Oct;135:22-30. Epub 2019 Jul 27 doi: 10.1016/j.yjmcc.2019.07.012. PMID: 31362019Free PMC Article

Recent clinical studies

Etiology

Saby JN, Peters SU, Benke TA, Standridge SM, Swanson LC, Lieberman DN, Olson HE, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED
J Neurodev Disord 2023 Mar 4;15(1):10. doi: 10.1186/s11689-023-09479-9. PMID: 36870948Free PMC Article
Salazar R, Beenders S, LaMarca NM, Thornburg O, Rubin-Thompson L, Snow A, Goldman S, Chung WK, Bain JM
Res Dev Disabil 2021 Dec;119:104110. Epub 2021 Nov 16 doi: 10.1016/j.ridd.2021.104110. PMID: 34794115
Trivisano M, Lucchi C, Rustichelli C, Terracciano A, Cusmai R, Ubertini GM, Giannone G, Bertini ES, Vigevano F, Gecz J, Biagini G, Specchio N
Epilepsia 2017 Jun;58(6):e91-e95. Epub 2017 May 4 doi: 10.1111/epi.13772. PMID: 28471529
Accogli A, Traverso M, Madia F, Bellini T, Vari MS, Pinto F, Capra V
Birth Defects Res 2017 Jul 3;109(11):866-868. Epub 2017 May 2 doi: 10.1002/bdr2.1032. PMID: 28464487
Storey E
Semin Neurol 2014 Jul;34(3):280-92. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386766. PMID: 25192506

Diagnosis

van Geest FS, Groeneweg S, Popa VM, Stals MAM, Visser WE
J Clin Endocrinol Metab 2023 Dec 21;109(1):e330-e335. doi: 10.1210/clinem/dgad412. PMID: 37450560Free PMC Article
Elhawary NA, AlJahdali IA, Abumansour IS, Azher ZA, Falemban AH, Madani WM, Alosaimi W, Alghamdi G, Sindi IA
Hum Genomics 2023 Jul 7;17(1):60. doi: 10.1186/s40246-023-00507-2. PMID: 37420260Free PMC Article
Saby JN, Peters SU, Benke TA, Standridge SM, Swanson LC, Lieberman DN, Olson HE, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED
J Neurodev Disord 2023 Mar 4;15(1):10. doi: 10.1186/s11689-023-09479-9. PMID: 36870948Free PMC Article
Pascual-Alonso A, Martínez-Monseny AF, Xiol C, Armstrong J
Int J Mol Sci 2021 Sep 4;22(17) doi: 10.3390/ijms22179610. PMID: 34502518Free PMC Article
D'Avanzo F, Rigon L, Zanetti A, Tomanin R
Int J Mol Sci 2020 Feb 13;21(4) doi: 10.3390/ijms21041258. PMID: 32070051Free PMC Article

Therapy

Calò LA, Davis PA
Int J Mol Sci 2020 Aug 7;21(16) doi: 10.3390/ijms21165660. PMID: 32784543Free PMC Article
Woodfin T, Stoops C, Philips JB 3rd, Lose E, Mikhail FM, Hurst A
Mol Genet Genomic Med 2019 Aug;7(8):e829. Epub 2019 Jun 28 doi: 10.1002/mgg3.829. PMID: 31250568Free PMC Article
Zain R, Smith CIE
Neurotherapeutics 2019 Apr;16(2):248-262. doi: 10.1007/s13311-019-00712-9. PMID: 31098852Free PMC Article
Motil KJ, Schultz RJ, Abrams S, Ellis KJ, Glaze DG
J Pediatr Gastroenterol Nutr 2006 Apr;42(4):419-26. doi: 10.1097/01.mpg.0000189370.22288.0c. PMID: 16641581
Wichers-Rother M, Grigull A, Sokolowski P, Stoffel-Wagner B, Köhler W
J Neurol 2005 Dec;252(12):1525-9. doi: 10.1007/s00415-005-0908-7. PMID: 16362829

Prognosis

Darden D, Hsu JC, Tzou WS, von Alvensleben JC, Brooks M, Hoffmayer KS, Brambatti M, Sauer WH, Feld GK, Adler E
Heart Rhythm 2021 Jul;18(7):1194-1202. Epub 2021 Mar 16 doi: 10.1016/j.hrthm.2021.03.024. PMID: 33737230
Calò LA, Davis PA
Int J Mol Sci 2020 Aug 7;21(16) doi: 10.3390/ijms21165660. PMID: 32784543Free PMC Article
Remerand G, Boespflug-Tanguy O, Tonduti D, Touraine R, Rodriguez D, Curie A, Perreton N, Des Portes V, Sarret C; RMLX/AHDS Study Group
Dev Med Child Neurol 2019 Dec;61(12):1439-1447. Epub 2019 Aug 13 doi: 10.1111/dmcn.14332. PMID: 31410843
Galasso C, Lo-Castro A, El-Malhany N, Curatolo P
Ital J Pediatr 2010 Feb 14;36:17. doi: 10.1186/1824-7288-36-17. PMID: 20152051Free PMC Article
Davidson BL, Tarlé SA, Van Antwerp M, Gibbs DA, Watts RW, Kelley WN, Palella TD
Am J Hum Genet 1991 May;48(5):951-8. PMID: 2018042Free PMC Article

Clinical prediction guides

van Geest FS, Groeneweg S, Popa VM, Stals MAM, Visser WE
J Clin Endocrinol Metab 2023 Dec 21;109(1):e330-e335. doi: 10.1210/clinem/dgad412. PMID: 37450560Free PMC Article
Salazar R, Beenders S, LaMarca NM, Thornburg O, Rubin-Thompson L, Snow A, Goldman S, Chung WK, Bain JM
Res Dev Disabil 2021 Dec;119:104110. Epub 2021 Nov 16 doi: 10.1016/j.ridd.2021.104110. PMID: 34794115
Piché J, Van Vliet PP, Pucéat M, Andelfinger G
Cell Cycle 2019 Nov;18(21):2828-2848. Epub 2019 Sep 13 doi: 10.1080/15384101.2019.1658476. PMID: 31516082Free PMC Article
Rajan-Babu IS, Law HY, Yoon CS, Lee CG, Chong SS
Expert Rev Mol Med 2015 May 4;17:e7. doi: 10.1017/erm.2015.5. PMID: 25936533Free PMC Article
Davidson BL, Tarlé SA, Van Antwerp M, Gibbs DA, Watts RW, Kelley WN, Palella TD
Am J Hum Genet 1991 May;48(5):951-8. PMID: 2018042Free PMC Article

Recent systematic reviews

Della Vecchia S, Lopergolo D, Trovato R, Pasquariello R, Ferrari AR, Bartolini E
Seizure 2023 Jan;104:32-37. Epub 2022 Nov 29 doi: 10.1016/j.seizure.2022.11.014. PMID: 36476360
Mahdi SS, Jafri HA, Allana R, Amenta F, Khawaja M, Qasim SSB
Int J Environ Res Public Health 2021 Jan 28;18(3) doi: 10.3390/ijerph18031162. PMID: 33525609Free PMC Article

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