MCID: INT300
MIFTS: 20

Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

MalaCards integrated aliases for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome:

Name: Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome 58
Intellectual Disability-Loss of Expressive Language-Facial Dysmorphism Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-expressive aphasia-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

MalaCards based summary : Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome, is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome. An important gene associated with Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome is SETBP1 (SET Binding Protein 1). Related phenotypes are delayed speech and language development and motor delay

Related Diseases for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Symptoms & Phenotypes for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Human phenotypes related to Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
2 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
3 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
4 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
5 abnormal social behavior 58 31 frequent (33%) Frequent (79-30%) HP:0012433
6 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
7 mutism 58 31 frequent (33%) Frequent (79-30%) HP:0002300
8 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
9 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
10 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
11 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
12 intellectual disability, profound 58 31 occasional (7.5%) Occasional (29-5%) HP:0002187
13 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
14 incomprehensible speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002546
15 seizure 31 occasional (7.5%) HP:0001250
16 seizures 58 Occasional (29-5%)
17 abnormal facial shape 58 Very frequent (99-80%)

Drugs & Therapeutics for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Search Clinical Trials , NIH Clinical Center for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome

Genetic Tests for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Anatomical Context for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Publications for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Articles related to Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome:

# Title Authors PMID Year
1
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 6
28346496 2017
2
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. 6
25663181 2015
3
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
4
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. 6
25852444 2015
5
Refining analyses of copy number variation identifies specific genes associated with developmental delay. 6
25217958 2014
6
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 6
20436468 2010

Variations for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

ClinVar genetic disease variations for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome:

6 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZMYND11 NM_006624.5(ZMYND11):c.1246_1247del (p.Glu416fs) Deletion Pathogenic 157553 rs606231268 GRCh37: 10:294293-294294
GRCh38: 10:248353-248354
2 SETBP1 NM_015559.3(SETBP1):c.2464del (p.Ile822fs) Deletion Pathogenic 157555 rs606231269 GRCh37: 18:42531769-42531769
GRCh38: 18:44951803-44951803
3 SETBP1 NM_015559.3(SETBP1):c.1596G>A (p.Trp532Ter) SNV Pathogenic 157556 rs672601342 GRCh37: 18:42530901-42530901
GRCh38: 18:44950936-44950936
4 SETBP1 NM_015559.3(SETBP1):c.427del (p.Arg143fs) Deletion Pathogenic 157558 rs606231271 GRCh37: 18:42281738-42281738
GRCh38: 18:44701771-44701771
5 ZMYND11 NM_001330057.1(ZMYND11):c.-125C>T SNV Pathogenic 393552 rs1060499626 GRCh37: 10:225974-225974
GRCh38: 10:180034-180034
6 ZMYND11 NM_006624.5(ZMYND11):c.383del (p.Ser128fs) Deletion Pathogenic 431092 rs1135401771 GRCh37: 10:267241-267241
GRCh38: 10:221301-221301
7 ZMYND11 NM_006624.5(ZMYND11):c.76C>T (p.Arg26Trp) SNV Pathogenic 431123 rs1135401797 GRCh37: 10:226028-226028
GRCh38: 10:180088-180088
8 ZMYND11 NM_006624.7(ZMYND11):c.561del (p.Met187fs) Deletion Pathogenic 157554 rs672601341 GRCh37: 10:283569-283569
GRCh38: 10:237629-237629
9 ZMYND11 NM_006624.5(ZMYND11):c.1756_1758CAG[1] (p.Gln587del) Microsatellite Pathogenic 157550 rs606231266 GRCh37: 10:298357-298359
GRCh38: 10:252417-252419
10 ZMYND11 NM_001370124.1(ZMYND11):c.-33-26860dup Duplication Pathogenic 157551 rs606231267 GRCh37: 10:255917-255918
GRCh38: 10:209977-209978
11 SETBP1 NM_015559.3(SETBP1):c.2016_2017insT (p.Lys673Ter) Insertion Pathogenic 375633 rs1057519594 GRCh37: 18:42531321-42531322
GRCh38: 18:44951356-44951357
12 SETBP1 NM_015559.3(SETBP1):c.1190C>A (p.Ser397Ter) SNV Pathogenic 975771 GRCh37: 18:42530495-42530495
GRCh38: 18:44950530-44950530
13 SETBP1 NM_015559.3(SETBP1):c.2621A>G (p.Asp874Gly) SNV Pathogenic 984820 GRCh37: 18:42531926-42531926
GRCh38: 18:44951961-44951961
14 SETBP1 NM_015559.3(SETBP1):c.1408del (p.Lys469_Met470insTer) Deletion Pathogenic 520830 rs1555706391 GRCh37: 18:42530710-42530710
GRCh38: 18:44950745-44950745
15 SETBP1 NM_015559.3(SETBP1):c.1082_1083dup (p.Phe362fs) Duplication Pathogenic 976037 GRCh37: 18:42530386-42530387
GRCh38: 18:44950421-44950422
16 SETBP1 NM_015559.3(SETBP1):c.3198C>A (p.Tyr1066Ter) SNV Pathogenic 931693 GRCh37: 18:42532503-42532503
GRCh38: 18:44952538-44952538
17 SETBP1 NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) SNV Pathogenic 1032 rs267607042 GRCh37: 18:42531907-42531907
GRCh38: 18:44951942-44951942
18 SETBP1 NM_015559.3(SETBP1):c.1821del (p.Ser608fs) Deletion Pathogenic 212152 rs797045952 GRCh37: 18:42531125-42531125
GRCh38: 18:44951160-44951160
19 SETBP1 NM_015559.3(SETBP1):c.2425C>T (p.Gln809Ter) SNV Pathogenic 807682 rs1599368323 GRCh37: 18:42531730-42531730
GRCh38: 18:44951765-44951765
20 ZMYND11 NM_006624.5(ZMYND11):c.1262G>A (p.Ser421Asn) SNV Pathogenic 225254 rs869320713 GRCh37: 10:294310-294310
GRCh38: 10:248370-248370
21 SETBP1 NM_015559.3(SETBP1):c.1630C>T (p.Arg544Ter) SNV Pathogenic 620563 rs1568234874 GRCh37: 18:42530935-42530935
GRCh38: 18:44950970-44950970
22 SETBP1 NM_015559.3(SETBP1):c.1568del (p.His523fs) Deletion Pathogenic 280223 rs886041469 GRCh37: 18:42530873-42530873
GRCh38: 18:44950908-44950908
23 SETBP1 NM_015559.3(SETBP1):c.487-1G>A SNV Pathogenic 429524 rs147805077 GRCh37: 18:42449194-42449194
GRCh38: 18:44869229-44869229
24 SETBP1 NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) SNV Pathogenic 1031 rs267607038 GRCh37: 18:42531917-42531917
GRCh38: 18:44951952-44951952
25 ZMYND11 NM_006624.5(ZMYND11):c.976C>T (p.Gln326Ter) SNV Pathogenic 157552 rs672601340 GRCh37: 10:292731-292731
GRCh38: 10:246791-246791
26 SETBP1 NM_015559.3(SETBP1):c.3032C>G (p.Ser1011Ter) SNV Pathogenic 157557 rs606231270 GRCh37: 18:42532337-42532337
GRCh38: 18:44952372-44952372
27 SETBP1 NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) SNV Pathogenic 157559 rs606231272 GRCh37: 18:42531178-42531178
GRCh38: 18:44951213-44951213
28 SETBP1 NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) SNV Pathogenic 157560 rs606231273 GRCh37: 18:42531181-42531181
GRCh38: 18:44951216-44951216
29 SETBP1 NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) SNV Pathogenic 157559 rs606231272 GRCh37: 18:42531178-42531178
GRCh38: 18:44951213-44951213
30 SETBP1 NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) SNV Pathogenic 157560 rs606231273 GRCh37: 18:42531181-42531181
GRCh38: 18:44951216-44951216
31 SETBP1 NM_015559.3(SETBP1):c.821G>A (p.Trp274Ter) SNV Pathogenic 489124 rs1555705966 GRCh37: 18:42530126-42530126
GRCh38: 18:44950161-44950161
32 ZMYND11 NM_006624.5(ZMYND11):c.1798C>T (p.Arg600Trp) SNV Pathogenic/Likely pathogenic 208648 rs797044854 GRCh37: 10:298399-298399
GRCh38: 10:252459-252459
33 ZMYND11 NM_001370100.5(ZMYND11):c.1255A>C (p.Ser419Arg) SNV Likely pathogenic 1029064 GRCh37: 10:294303-294303
GRCh38: 10:248363-248363
34 SETBP1 NM_015559.3(SETBP1):c.265C>T (p.Gln89Ter) SNV Likely pathogenic 620362 rs1568097623 GRCh37: 18:42281576-42281576
GRCh38: 18:44701611-44701611
35 SETBP1 NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) SNV Likely pathogenic 620410 rs1568235086 GRCh37: 18:42531070-42531070
GRCh38: 18:44951105-44951105
36 SETBP1 NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs) Deletion Likely pathogenic 988755 GRCh37: 18:42530718-42530721
GRCh38: 18:44950753-44950756
37 SETBP1 NM_015559.3(SETBP1):c.2561C>T (p.Ser854Phe) SNV Likely pathogenic 984834 GRCh37: 18:42531866-42531866
GRCh38: 18:44951901-44951901
38 SETBP1 NM_015559.3(SETBP1):c.1677_1686dup (p.Pro563fs) Duplication Likely pathogenic 982630 GRCh37: 18:42530981-42530982
GRCh38: 18:44951016-44951017
39 SETBP1 NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) SNV Likely pathogenic 521296 rs1178702025 GRCh37: 18:42531877-42531877
GRCh38: 18:44951912-44951912
40 SETBP1 NM_015559.3(SETBP1):c.4790_*9del (p.Ter1597TrpextTer?) Deletion Likely pathogenic 984901 GRCh37: 18:42643660-42643670
GRCh38: 18:45063695-45063705
41 ZMYND11 NM_001370100.5(ZMYND11):c.1793G>C (p.Cys598Ser) SNV Likely pathogenic 976009 GRCh37: 10:298394-298394
GRCh38: 10:252454-252454
42 SETBP1 NM_015559.3(SETBP1):c.2699A>G (p.Asp900Gly) SNV Uncertain significance 984821 GRCh37: 18:42532004-42532004
GRCh38: 18:44952039-44952039
43 SETBP1 NM_015559.3(SETBP1):c.3436C>T (p.Arg1146Trp) SNV Uncertain significance 984822 GRCh37: 18:42532741-42532741
GRCh38: 18:44952776-44952776
44 SETBP1 NM_015559.3(SETBP1):c.2870T>C (p.Leu957Pro) SNV Uncertain significance 984823 GRCh37: 18:42532175-42532175
GRCh38: 18:44952210-44952210
45 SETBP1 NM_015559.3(SETBP1):c.3499C>A (p.His1167Asn) SNV Uncertain significance 984833 GRCh37: 18:42532804-42532804
GRCh38: 18:44952839-44952839
46 SETBP1 NM_015559.3(SETBP1):c.3055C>T (p.Arg1019Cys) SNV Uncertain significance 638458 rs767260608 GRCh37: 18:42532360-42532360
GRCh38: 18:44952395-44952395
47 ZMYND11 NM_001370100.5(ZMYND11):c.1456C>T (p.His486Tyr) SNV Uncertain significance 973332 GRCh37: 10:294504-294504
GRCh38: 10:248564-248564
48 SETBP1 NM_015559.3(SETBP1):c.3341G>C (p.Gly1114Ala) SNV Uncertain significance 930461 GRCh37: 18:42532646-42532646
GRCh38: 18:44952681-44952681
49 SETBP1 NM_015559.3(SETBP1):c.478A>G (p.Lys160Glu) SNV Uncertain significance 931273 GRCh37: 18:42281789-42281789
GRCh38: 18:44701824-44701824
50 ZMYND11 NM_006624.5(ZMYND11):c.1294G>A (p.Glu432Lys) SNV Uncertain significance 373990 rs1057518819 GRCh37: 10:294342-294342
GRCh38: 10:248402-248402

Expression for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

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Pathways for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

GO Terms for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Sources for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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