MCID: MNT295
MIFTS: 25

Mental Retardation, X-Linked, Syndromic 33

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases, Eye diseases, Cardiovascular diseases, Bone 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 57 29 6
Mrxs33 57 75
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome 59
Mental Retardation, X-Linked, Syndromic, Type 33 40
Mental Retardation, X-Linked, Syndromic, 33 75

Characteristics:

OMIM:

57
Miscellaneous:
onset at birth
de novo mutation in most patients

Inheritance:
x-linked recessive


HPO:

32
mental retardation, x-linked, syndromic 33:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked, Syndromic 33

UniProtKB/Swiss-Prot : 75 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 related phenotypes are hypertelorism and low-set ears

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
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 Nose:
anteverted nares

Growth Other:
intrauterine growth retardation
growth retardation, postnatal

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
Head And Neck Head:
microcephaly

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

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

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

32 (show top 50) (show all 76)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 very rare (1%) HP:0000316
2 low-set ears 32 very rare (1%) HP:0000369
3 short neck 32 very rare (1%) HP:0000470
4 pectus excavatum 32 very rare (1%) HP:0000767
5 abnormality of eye movement 32 very rare (1%) HP:0000496
6 nystagmus 32 very rare (1%) HP:0000639
7 osteopenia 32 very rare (1%) HP:0000938
8 intellectual disability 32 very rare (1%) HP:0001249
9 seizures 32 very rare (1%) HP:0001250
10 ataxia 32 very rare (1%) HP:0001251
11 tremor 32 very rare (1%) HP:0001337
12 constipation 32 very rare (1%) HP:0002019
13 scoliosis 32 very rare (1%) HP:0002650
14 kyphosis 32 very rare (1%) HP:0002808
15 prominent supraorbital ridges 32 very rare (1%) HP:0000336
16 hearing impairment 32 very rare (1%) HP:0000365
17 chronic otitis media 32 very rare (1%) HP:0000389
18 macrotia 32 HP:0000400
19 global developmental delay 32 HP:0001263
20 hip dysplasia 32 very rare (1%) HP:0001385
21 delayed speech and language development 32 very rare (1%) HP:0000750
22 microcephaly 32 very rare (1%) HP:0000252
23 gastroesophageal reflux 32 very rare (1%) HP:0002020
24 prominent forehead 32 very rare (1%) HP:0011220
25 long philtrum 32 very rare (1%) HP:0000343
26 strabismus 32 very rare (1%) HP:0000486
27 attention deficit hyperactivity disorder 32 very rare (1%) HP:0007018
28 intrauterine growth retardation 32 very rare (1%) HP:0001511
29 postnatal growth retardation 32 very rare (1%) HP:0008897
30 anxiety 32 very rare (1%) HP:0000739
31 high, narrow palate 32 very rare (1%) HP:0002705
32 myopia 32 very rare (1%) HP:0000545
33 gait imbalance 32 very rare (1%) HP:0002141
34 dystonia 32 occasional (7.5%) HP:0001332
35 reduced tendon reflexes 32 very rare (1%) HP:0001315
36 protruding ear 32 HP:0000411
37 ventriculomegaly 32 very rare (1%) HP:0002119
38 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
39 deeply set eye 32 very rare (1%) HP:0000490
40 joint hypermobility 32 very rare (1%) HP:0001382
41 downslanted palpebral fissures 32 very rare (1%) HP:0000494
42 broad nasal tip 32 HP:0000455
43 long face 32 very rare (1%) HP:0000276
44 bulbous nose 32 HP:0000414
45 thin upper lip vermilion 32 very rare (1%) HP:0000219
46 flat occiput 32 very rare (1%) HP:0005469
47 eczema 32 very rare (1%) HP:0000964
48 pointed chin 32 very rare (1%) HP:0000307
49 sacral dimple 32 very rare (1%) HP:0000960
50 nasolacrimal duct obstruction 32 very rare (1%) HP:0000579

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 TAF1

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

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

41
Eye

Publications for Mental Retardation, X-Linked, Syndromic 33

Variations for Mental Retardation, X-Linked, Syndromic 33

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

75
# 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

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

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TAF1 NM_004606.4(TAF1): c.4010T> C (p.Ile1337Thr) single nucleotide variant Pathogenic rs864321627 GRCh38 Chromosome X, 71401691: 71401691
2 TAF1 NM_004606.4(TAF1): c.4010T> C (p.Ile1337Thr) single nucleotide variant Pathogenic rs864321627 GRCh37 Chromosome X, 70621541: 70621541
3 TAF1 NM_004606.4(TAF1): c.2419T> C (p.Cys807Arg) single nucleotide variant Pathogenic rs864321628 GRCh38 Chromosome X, 71387393: 71387393
4 TAF1 NM_004606.4(TAF1): c.2419T> C (p.Cys807Arg) single nucleotide variant Pathogenic rs864321628 GRCh37 Chromosome X, 70607243: 70607243
5 TAF1 NM_004606.4(TAF1): c.3736C> T (p.Arg1246Trp) single nucleotide variant Pathogenic rs864321629 GRCh38 Chromosome X, 71398627: 71398627
6 TAF1 NM_004606.4(TAF1): c.3736C> T (p.Arg1246Trp) single nucleotide variant Pathogenic rs864321629 GRCh37 Chromosome X, 70618477: 70618477
7 TAF1 NM_004606.4(TAF1): c.1786C> T (p.Pro596Ser) single nucleotide variant Likely pathogenic rs864321630 GRCh38 Chromosome X, 71382821: 71382821
8 TAF1 NM_004606.4(TAF1): c.1786C> T (p.Pro596Ser) single nucleotide variant Likely pathogenic rs864321630 GRCh37 Chromosome X, 70602671: 70602671
9 TAF1 NM_004606.4(TAF1): c.2926G> C (p.Asp976His) single nucleotide variant Pathogenic rs864321631 GRCh37 Chromosome X, 70612503: 70612503
10 TAF1 NM_004606.4(TAF1): c.2926G> C (p.Asp976His) single nucleotide variant Pathogenic rs864321631 GRCh38 Chromosome X, 71392653: 71392653
11 TAF1 NM_004606.4(TAF1): c.4286C> T (p.Pro1429Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 70627843: 70627843
12 TAF1 NM_004606.4(TAF1): c.4286C> T (p.Pro1429Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 71407993: 71407993

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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