ALYUS
MCID: ALZ044
MIFTS: 23

Alazami-Yuan Syndrome (ALYUS)

Categories: Genetic diseases

Aliases & Classifications for Alazami-Yuan Syndrome

MalaCards integrated aliases for Alazami-Yuan Syndrome:

Name: Alazami-Yuan Syndrome 57 72 29 6
Alyus 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable features
five patients from 3 consanguineous families have been reported (last curated september 2016)


HPO:

31
alazami-yuan syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Alazami-Yuan Syndrome

UniProtKB/Swiss-Prot : 72 Alazami-Yuan syndrome: An autosomal recessive syndrome reminiscent of Cornelia de Lange syndrome and characterized by delayed psychomotor development with intellectual disability, hypotonia, microcephaly, short stature, poor speech, and dysmorphic features.

MalaCards based summary : Alazami-Yuan Syndrome, also known as alyus, is related to wiedemann-steiner syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Alazami-Yuan Syndrome is TAF6 (TATA-Box Binding Protein Associated Factor 6). Related phenotypes are intellectual disability and high palate

More information from OMIM: 617126

Related Diseases for Alazami-Yuan Syndrome

Diseases related to Alazami-Yuan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 wiedemann-steiner syndrome 11.3
2 alacrima, achalasia, and mental retardation syndrome 9.6 TAF6 AP4M1
3 microcephaly 9.5 TAF6 AP4M1

Symptoms & Phenotypes for Alazami-Yuan Syndrome

Human phenotypes related to Alazami-Yuan Syndrome:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 high palate 31 HP:0000218
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 thick eyebrow 31 HP:0000574
6 neonatal hypotonia 31 HP:0001319
7 short stature 31 HP:0004322
8 cryptorchidism 31 HP:0000028
9 dental crowding 31 HP:0000678
10 narrow mouth 31 HP:0000160
11 highly arched eyebrow 31 HP:0002553
12 thin upper lip vermilion 31 HP:0000219
13 long philtrum 31 HP:0000343
14 low anterior hairline 31 HP:0000294
15 prominent nasal bridge 31 HP:0000426
16 underdeveloped nasal alae 31 HP:0000430
17 synophrys 31 HP:0000664
18 long eyelashes 31 HP:0000527
19 prominent nose 31 HP:0000448
20 hirsutism 31 HP:0001007
21 hyperactivity 31 HP:0000752
22 poor speech 31 HP:0002465
23 broad hallux 31 HP:0010055

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
poor speech
delayed psychomotor development

Growth Height:
short stature

Head And Neck Face:
long philtrum

Head And Neck Eyes:
synophrys
long eyelashes
thick eyebrows
arched eyebrows

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Head And Neck Teeth:
crowded teeth

Skeletal Feet:
broad great toes

Head And Neck Head:
microcephaly

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Nose:
prominent nasal bridge
prominent nose
hypoplastic nasal wings
long columella

Skin Nails Hair Hair:
synophrys
long eyelashes
hirsutism
low frontal hairline
thick eyebrows
more
Head And Neck Mouth:
thin upper lip
high-arched palate
microstomia

Muscle Soft Tissue:
hypotonia, neonatal

Skeletal Hands:
palmar crease

Clinical features from OMIM®:

617126 (Updated 20-May-2021)

Drugs & Therapeutics for Alazami-Yuan Syndrome

Search Clinical Trials , NIH Clinical Center for Alazami-Yuan Syndrome

Genetic Tests for Alazami-Yuan Syndrome

Genetic tests related to Alazami-Yuan Syndrome:

# Genetic test Affiliating Genes
1 Alazami-Yuan Syndrome 29 TAF6

Anatomical Context for Alazami-Yuan Syndrome

Publications for Alazami-Yuan Syndrome

Articles related to Alazami-Yuan Syndrome:

# Title Authors PMID Year
1
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 6 57
25574841 2015
2
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 57 6
25558065 2015
3
The third family with TAF6-related phenotype: Alazami-Yuan syndrome. 61
32030742 2020

Variations for Alazami-Yuan Syndrome

ClinVar genetic disease variations for Alazami-Yuan Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TAF6 NM_139315.3(TAF6):c.136C>T (p.Arg46Cys) SNV Pathogenic 180203 rs727503778 GRCh37: 7:99711697-99711697
GRCh38: 7:100114074-100114074
2 TAF6 NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) SNV Likely pathogenic 180204 rs374993554 GRCh37: 7:99711522-99711522
GRCh38: 7:100113899-100113899
3 TAF6 , AP4M1 NM_139315.3(TAF6):c.1689A>G (p.Ser563=) SNV Uncertain significance 730826 rs768942294 GRCh37: 7:99705214-99705214
GRCh38: 7:100107591-100107591
4 TAF6 , AP4M1 NM_139315.3(TAF6):c.1769C>A (p.Thr590Asn) SNV Uncertain significance 1030002 GRCh37: 7:99705134-99705134
GRCh38: 7:100107511-100107511
5 TAF6 , AP4M1 NM_139315.3(TAF6):c.1876_1878del (p.Ser626del) Deletion Uncertain significance 1034199 GRCh37: 7:99705025-99705027
GRCh38: 7:100107402-100107404
6 TAF6 , AP4M1 NM_139315.3(TAF6):c.1921A>G (p.Ser641Gly) SNV Uncertain significance 1034200 GRCh37: 7:99704982-99704982
GRCh38: 7:100107359-100107359

UniProtKB/Swiss-Prot genetic disease variations for Alazami-Yuan Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 TAF6 p.Arg46Cys VAR_077840 rs727503778
2 TAF6 p.Ile71Thr VAR_077841 rs374993554

Expression for Alazami-Yuan Syndrome

Search GEO for disease gene expression data for Alazami-Yuan Syndrome.

Pathways for Alazami-Yuan Syndrome

GO Terms for Alazami-Yuan Syndrome

Sources for Alazami-Yuan Syndrome

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
37 LifeMap
39 LOVD
41 MedGen
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....