Nonsyndromic X-linked mental retardation

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The nonsyndromic X-linked mental retardation (MRX) belongs to the X-linked mental retardation and, in contrast to the syndromic forms (MRXS), comprises the group of diseases, which is about two thirds more common, without additional abnormalities.

distribution

The frequency is estimated at 1 in 600.

Classification

According to the Orphanet database , a distinction is made between:

• Armfield syndrome , synonym: mental retardation, X-linked, Armfield type
• Atkin-Flaitz syndrome , synonym: mental retardation, X-linked, Atkin type
• Brooks-Wisniewski-Brown syndrome , synonym: mental retardation, X-linked, Brooks type; Brooks-type X-linked intellectual disability; MRXSBWB
• Cabezas syndrome , synonym: mental retardation, X-linked, type Cabezas; Mental retardation, X-linked, Vitale type
• Mental retardation, X-linked, type Abidi , synonym: retardation Mental, X-linked syndromic, type Abidi , mutations in the gene locus q13.2
• Mental retardation, X-linked, Cantagrel type , synonym: Mental retardation, X-linked 98 , mutations in q13.3
• Mental retardation, X-linked, Cilliers type
• Mental retardation, X-linked, Fichera type , old name, now seen as a variant of Renpenning's syndrome .
• Mental retardation, X-linked, Kroes type , synonym: Cerebral-cerebellar-coloboma syndrome, X-linked
• Mental retardation, X-linked, type Nascimento , Synonym: retardation Mental, X-linked syndromic, Nascimento-type; Mental retardation, X-linked syndromic 30; MRXS30 , mutations in the UBE2A gene at q24
• Mental retardation, X-linked, Pai type
• Mental retardation, X-linked, Raymond type , outdated term for Lujan-Fryns syndrome
• Mental retardation, X-linked, Schimke type , synonyms: Schimke X-Linked Mental Retardations Syndrome; Choreoathetosis With Mental Retardation, X-Linked
• Mental retardation, X-linked, Seemanova type
• Mental retardation, X-linked, Shashi type , synonyms: Mental retardation, X-linked, syndromic type 11; MRXS11; Shashi X-Linked Mental Retardation Syndrome; SMRXS , mutations in the RBMX gene n q26.3
• Mental retardation, X-linked, Stocco Dos Santos type , mutations in the SHROOM4 gene at p11.22
• Mental retardation, X-linked, Stoll type
• Mental retardation, X-linked, Van Esch type
• Mental retardation, X-linked, Wilson type , synonym: Mental retardation, X-linked, syndromic 12 , mutations at p11
• Mental retardation, X-linked, Wittwer type , outdated term for Wolf-Hirschhorn syndrome
• Mental retardation, X-linked, Zorick type , outdated term for Allan-Herndon-Dudley syndrome
• Golabi-Ito-Hall syndrome , synonym: mental retardation, X-linked, type Golabi-Ito-Hall , variant of Renpenning syndrome
• Gustavson Syndrome , Synonyms: Mental retardation, severe X-linked, Gustavson type; Mental Retardation With Optic Atrophy, Deafness, And Seizures
• Atypical HSD10 deficiency , synonym: mental retardation, X-linked, syndromic, type 10; HSD10 Mitochondrial Disease; HSD10MD; HSD17B10 Deficiendy; 17-beta-hydroxysteroid dehydrogenase X Deficiendy; 3-hydroxyacly-CoA dehydrogenase II deficiency; MHBD Deficiency; Mental retardation, X-linked, syndromic 10; MRXS10 , mutations in the HSD17B19 gene at p11.22
• Mental retardation, X-linked, type Hedera , Synonym: Mental retardation, X-linked, type Hedera; Mental retardation, X-linked, With Epilepsy; MRXE; Mental retardation, X-linked, syndromic , mutations in the ATP6AP2 gene at p11.4
• Intellectual disability, X-linked, due to GRIA3 anomaly , synonym: mental retardation, X-linked, due to GRIA3 disorder; Mental retardation, X-linked, Syndromic, WU Type; MRXSW; Mental retardation, X-linked 94; MRX94; Mental retardation, X-linked, Syndromic 29; MRXS29 , mutations in the GRIA3 gene at q25
• MICPCH syndrome , synonym: mental retardation, X-linked, type Najm; X-linked intellectual disability - microcephaly - brain stem and cerebellar hypoplasia; Intellectual disability , X-linked, type Najm , mutations in the CASK gene at p11.4
• MRXS9 , synonym: mental retardation, X-linked, type Shrimpton; X-linked mental retardation type Shrimpton; Mental retardation, X-linked, syndromic 9 , mutations in q12-q21.32
• Porteous syndrome as a variant of Renpenning syndrome
• Siderius-Hamel syndrome , synonym: mental retardation, X-linked, type Siderius
• Snyder-Robinson syndrome , synonym: mental retardation, X-linked, type Snyder; X-linked intellectual disability, Snyder type
• Sutherland-Haan syndrome , variant of Renpenning syndrome
• Wieacker-Wolff syndrome , synonyms: WRWF; Mental retardation, X-linked, Miles-Carpenter type; MCS; Mental Retardation, X-Linked, Syndromic 4; MRXS4; Mental Retardation, X-linked, With Congenital contractures And Low Arches fingertip , mutations in ZC4H2 - gene at q11.2
• X-linked intellectual disability type Gu , synonym: mental retardation, X-linked, type Gu , outdated term for X-linked intellectual disability-short stature-obesity syndrome
• X-linked Schütz type , synonym: mental retardation, X-linked, Schütz type
• Turner type X-linked intellectual disability , synonym: mental retardation, X-linked, Turner type; Mental Retardation And Macrocephaly Syndrome; Mental retardation, X-linked syndromic, Turner type

literature

• P. Chiurazzi, CE Schwartz, J. Gecz, G. Neri: XLMR genes: update 2007. In: European journal of human genetics: EJHG. Vol. 16, No. 4, April 2008, pp. 422-434, doi: 10.1038 / sj.ejhg. 5201994 , PMID 18197188 (Review)

Individual evidence

1. ↑ ^{a b} Intellectual disability, nonsyndromic, X-linked. In: Orphanet (Rare Disease Database).
2. ↑ P. Chiurazzi, E. Tabolacci, G. Neri: X-linked mental retardation (XLMR): from clinical conditions to cloned genes. In: Critical reviews in clinical laboratory sciences. Vol. 41, No. 2, 2004, pp. 117-158, doi: 10.1080 / 10408360490443013 , PMID 15270552 (review).
3. ↑ Mental retardation, X-linked, Abidi type. In: Orphanet (Rare Disease Database).
4. ^ Mental retardation, X-linked syndromic, Abidi type.  In: Online Mendelian Inheritance in Man . (English)
5. ↑ Mental retardation, X-linked, Cantagrel type. In: Orphanet (Rare Disease Database).
6. ^ Mental retardation, X-linked 98.  In: Online Mendelian Inheritance in Man . (English)
7. ↑ Mental retardation, X-linked, Cilliers type. In: Orphanet (Rare Disease Database).
8. ↑ Mental retardation, X-linked, Fichera type. In: Orphanet (Rare Disease Database).
9. ↑ Mental retardation, X-linked, Kroes type. In: Orphanet (Rare Disease Database).
10. ↑ Mental retardation, X-linked, type Nascimento. In: Orphanet (Rare Disease Database).
11. ^ Mental retardation, X-linked syndromic, Nascimento-type.  In: Online Mendelian Inheritance in Man . (English)
12. ↑ Mental retardation, X-linked, Pai type. In: Orphanet (Rare Disease Database).
13. ^ Mental retardation, X-linked, Raymond type. In: Orphanet (Rare Disease Database).
14. ↑ Mental retardation, X-linked, Schimke type. In: Orphanet (Rare Disease Database).
15. ↑ Mental retardation, X-linked, Seemanova type. In: Orphanet (Rare Disease Database).
16. ↑ Mental retardation, X-linked, Shashi type. In: Orphanet (Rare Disease Database).
17. ^ Mental retardation, X-linked, syndromic 11, Shashi type.  In: Online Mendelian Inheritance in Man . (English)
18. ↑ Mental retardation, X-linked, type Stocco Dos Santos. In: Orphanet (Rare Disease Database).
19. ^ Stocco dos Santos X-linked mental retardation syndrome.  In: Online Mendelian Inheritance in Man . (English)
20. ↑ Mental retardation, X-linked, Stoll type. In: Orphanet (Rare Disease Database).
21. ↑ Mental retardation, X-linked, Van Esch type. In: Orphanet (Rare Disease Database).
22. ↑ Mental retardation, X-linked, Wilson type. In: Orphanet (Rare Disease Database).
23. ^ Mental retardation, X-linked, syndromic 12.  In: Online Mendelian Inheritance in Man . (English)
24. ^ Mental retardation, X-linked, Wittwer type. In: Orphanet (Rare Disease Database).
25. ↑ Mental retardation, X-linked, Zorick type. In: Orphanet (Rare Disease Database).
26. Jump up ↑ intellectual disability , X-linked, Golabi-Ito-Hall type. In: Orphanet (Rare Disease Database).
27. ↑ HSD10 deficiency, atypical form. In: Orphanet (Rare Disease Database).
28. ↑ HSD10 mitochondrial disease.  In: Online Mendelian Inheritance in Man . (English)
29. ↑ Intellectual disability, X-linked, type Hedera. In: Orphanet (Rare Disease Database).
30. ^ Mental retardation, X-linked, syndromic.  In: Online Mendelian Inheritance in Man . (English)
31. ↑ Deterioration, X-linked, due to GRIA3 anomaly. In: Orphanet (Rare Disease Database).
32. ^ Mental retardation, X-linked 94.  In: Online Mendelian Inheritance in Man . (English)
33. Jump up ↑ intellectual disability , X-linked, type Najm. In: Orphanet (Rare Disease Database).
34. ^ Mental retardation and microcephaly with pontine and cerebellar hypoplasia.  In: Online Mendelian Inheritance in Man . (English)
35. ^ Shrimpton-type X-linked intellectual disabilities. In: Orphanet (Rare Disease Database).
36. ↑ retardation, X-linked, syndromic 9 Nonsyndromic X-linked mental retardation.  In: Online Mendelian Inheritance in Man . (English)
37. ↑ Mental retardation, X-linked, Porteous type. In: Orphanet (Rare Disease Database).
38. ↑ Mental retardation, X-linked, Sutherland-Haan type. In: Orphanet (Rare Disease Database).
39. ^ Mental retardation, X-linked, Miles-Carpenter type. In: Orphanet (Rare Disease Database).
40. ^ Wieacker-Wolff syndrome.  In: Online Mendelian Inheritance in Man . (English)
41. ↑ X-linked intellectual disability type Gu. In: Orphanet (Rare Disease Database).
42. ↑ Schütz type X-linked intellectual disability. In: Orphanet (Rare Disease Database).
43. ^ Turner-type X-linked intellectual disability. In: Orphanet (Rare Disease Database).
44. ^ Mental retardation, X-linked syndromic, Turner type.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !