MRXS33
MCID: MNT295
MIFTS: 27

Mental Retardation, X-Linked, Syndromic 33 (MRXS33)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic 33

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic 33:

Name: Mental Retardation, X-Linked, Syndromic 33 56 29 6
Mrxs33 56 73
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome 58
Mental Retardation, X-Linked, Syndromic, Type 33 39
Mental Retardation, X-Linked, Syndromic, 33 73

Characteristics:

OMIM:

56
Miscellaneous:
onset at birth
de novo mutation in most patients

Inheritance:
x-linked recessive


HPO:

31
mental retardation, x-linked, syndromic 33:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, X-Linked, Syndromic 33

UniProtKB/Swiss-Prot : 73 Mental retardation, X-linked, syndromic, 33: A mental retardation syndrome characterized by intellectual deficit, delayed psychomotor development, delayed speech and language, and characteristic facial features. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic 33, is also known as mrxs33. An important gene associated with Mental Retardation, X-Linked, Syndromic 33 is TAF1 (TATA-Box Binding Protein Associated Factor 1). Affiliated tissues include eye and bone, and related phenotypes are low-set ears and global developmental delay

OMIM : 56 X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015). (300966)

Related Diseases for Mental Retardation, X-Linked, Syndromic 33

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic 33

Human phenotypes related to Mental Retardation, X-Linked, Syndromic 33:

58 31 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 31 very rare (1%) Very frequent (99-80%) HP:0000369
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 delayed gross motor development 58 31 very rare (1%) Very frequent (99-80%) HP:0002194
4 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
5 generalized hypotonia 58 31 very rare (1%) Very frequent (99-80%) HP:0001290
6 postnatal growth retardation 58 31 very rare (1%) Very frequent (99-80%) HP:0008897
7 hypoplasia of the corpus callosum 58 31 very rare (1%) Very frequent (99-80%) HP:0002079
8 severe expressive language delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0006863
9 prominent protruding coccyx 58 31 hallmark (90%) Very frequent (99-80%) HP:0008472
10 abnormal sacral segmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008468
11 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
12 hearing impairment 58 31 very rare (1%) Frequent (79-30%) HP:0000365
13 prominent supraorbital ridges 58 31 very rare (1%) Frequent (79-30%) HP:0000336
14 chronic otitis media 58 31 very rare (1%) Frequent (79-30%) HP:0000389
15 downslanted palpebral fissures 58 31 very rare (1%) Frequent (79-30%) HP:0000494
16 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
17 long philtrum 58 31 very rare (1%) Frequent (79-30%) HP:0000343
18 strabismus 58 31 very rare (1%) Frequent (79-30%) HP:0000486
19 joint hypermobility 58 31 very rare (1%) Frequent (79-30%) HP:0001382
20 long face 58 31 very rare (1%) Frequent (79-30%) HP:0000276
21 autistic behavior 58 31 very rare (1%) Frequent (79-30%) HP:0000729
22 pointed chin 58 31 very rare (1%) Frequent (79-30%) HP:0000307
23 oral-pharyngeal dysphagia 58 31 very rare (1%) Frequent (79-30%) HP:0200136
24 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
25 seizures 58 31 very rare (1%) Occasional (29-5%) HP:0001250
26 tremor 58 31 very rare (1%) Occasional (29-5%) HP:0001337
27 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
28 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
29 microcephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000252
30 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
31 broad nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000455
32 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
33 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
34 deeply set eye 58 31 very rare (1%) Occasional (29-5%) HP:0000490
35 thin upper lip vermilion 58 31 very rare (1%) Occasional (29-5%) HP:0000219
36 synophrys 58 31 very rare (1%) Occasional (29-5%) HP:0000664
37 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
38 long eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000527
39 lipoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012032
40 lower limb hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002395
41 spastic diplegia 58 31 very rare (1%) Occasional (29-5%) HP:0001264
42 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
43 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
44 delayed speech and language development 58 31 very rare (1%) Very frequent (99-80%) HP:0000750
45 hypertelorism 31 very rare (1%) HP:0000316
46 short neck 31 very rare (1%) HP:0000470
47 pectus excavatum 31 very rare (1%) HP:0000767
48 scoliosis 31 very rare (1%) HP:0002650
49 abnormality of eye movement 31 very rare (1%) HP:0000496
50 nystagmus 31 very rare (1%) HP:0000639

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
chronic otitis media
protruding ears
hearing impairment (in some patients)

Head And Neck Eyes:
prominent supraorbital ridges
strabismus
downslanting palpebral fissures

Head And Neck Head:
microcephaly

Head And Neck Face:
long philtrum
long face
pointed chin
sagging cheeks

Skin Nails Hair Skin:
sacral dimple

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
oropharyngeal dysphagia

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
tremor (in some patients)
cerebellar hypoplasia (in some patients)
enlarged ventricles (in some patients)
more
Growth Other:
intrauterine growth retardation
growth retardation, postnatal

Head And Neck Nose:
anteverted nares

Skeletal Spine:
sacral dimple
prominent protruding coccyx
gluteal crease with sacral caudal remnant

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Skeletal:
joint hypermotility

Clinical features from OMIM:

300966

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic 33

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic 33

Genetic Tests for Mental Retardation, X-Linked, Syndromic 33

Genetic tests related to Mental Retardation, X-Linked, Syndromic 33:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic 33 29

Anatomical Context for Mental Retardation, X-Linked, Syndromic 33

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic 33:

40
Eye, Bone

Publications for Mental Retardation, X-Linked, Syndromic 33

Articles related to Mental Retardation, X-Linked, Syndromic 33:

# Title Authors PMID Year
1
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. 56 6
26637982 2015
2
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. 61
31646703 2019

Variations for Mental Retardation, X-Linked, Syndromic 33

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic 33:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TAF1 NM_004606.4(TAF1):c.4010T>C (p.Ile1337Thr)SNV Pathogenic 219114 rs864321627 X:70621541-70621541 X:71401691-71401691
2 TAF1 NM_004606.4(TAF1):c.2419T>C (p.Cys807Arg)SNV Pathogenic 219115 rs864321628 X:70607243-70607243 X:71387393-71387393
3 TAF1 NM_004606.4(TAF1):c.3736C>T (p.Arg1246Trp)SNV Pathogenic 219116 rs864321629 X:70618477-70618477 X:71398627-71398627
4 TAF1 NM_004606.4(TAF1):c.2926G>C (p.Asp976His)SNV Pathogenic 219118 rs864321631 X:70612503-70612503 X:71392653-71392653
5 TAF1 NM_004606.4(TAF1):c.3568C>T (p.Arg1190Cys)SNV Pathogenic 599303 rs1569301036 X:70617204-70617204 X:71397354-71397354
6 TAF1 NM_004606.4(TAF1):c.4286C>T (p.Pro1429Leu)SNV Likely pathogenic 545434 rs1555980523 X:70627843-70627843 X:71407993-71407993
7 TAF1 NM_004606.4(TAF1):c.1786C>T (p.Pro596Ser)SNV Likely pathogenic 219117 rs864321630 X:70602671-70602671 X:71382821-71382821
8 TAF1 NM_004606.4(TAF1):c.2831T>C (p.Ile944Thr)SNV Uncertain significance 635062 rs1174447128 X:70609505-70609505 X:71389655-71389655
9 TAF1 NM_138923.3(TAF1):c.481C>G (p.Pro161Ala)SNV Uncertain significance 638058 X:70595085-70595085 X:71375235-71375235

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic 33:

73
# Symbol AA change Variation ID SNP ID
1 TAF1 p.Pro575Ser VAR_076394 rs864321630
2 TAF1 p.Cys786Arg VAR_076395 rs864321628
3 TAF1 p.Asp955His VAR_076396 rs864321631
4 TAF1 p.Arg1225Trp VAR_076397 rs864321629
5 TAF1 p.Ile1316Thr VAR_076398 rs864321627

Expression for Mental Retardation, X-Linked, Syndromic 33

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic 33.

Pathways for Mental Retardation, X-Linked, Syndromic 33

GO Terms for Mental Retardation, X-Linked, Syndromic 33

Sources for Mental Retardation, X-Linked, Syndromic 33

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