ALYUS
MCID: ALZ044
MIFTS: 18

Alazami-Yuan Syndrome (ALYUS)

Categories: Genetic diseases

Aliases & Classifications for Alazami-Yuan Syndrome

MalaCards integrated aliases for Alazami-Yuan Syndrome:

Name: Alazami-Yuan Syndrome 58 76 30 6
Alyus 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
alazami-yuan syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Alazami-Yuan Syndrome

UniProtKB/Swiss-Prot : 76 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, is also known as alyus. An important gene associated with Alazami-Yuan Syndrome is TAF6 (TATA-Box Binding Protein Associated Factor 6). Related phenotypes are high palate and intellectual disability

Description from OMIM: 617126

Related Diseases for Alazami-Yuan Syndrome

Symptoms & Phenotypes for Alazami-Yuan Syndrome

Human phenotypes related to Alazami-Yuan Syndrome:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 high palate 33 HP:0000218
2 intellectual disability 33 HP:0001249
3 global developmental delay 33 HP:0001263
4 microcephaly 33 HP:0000252
5 thick eyebrow 33 HP:0000574
6 neonatal hypotonia 33 HP:0001319
7 short stature 33 HP:0004322
8 long philtrum 33 HP:0000343
9 cryptorchidism 33 HP:0000028
10 prominent nasal bridge 33 HP:0000426
11 underdeveloped nasal alae 33 HP:0000430
12 dental crowding 33 HP:0000678
13 narrow mouth 33 HP:0000160
14 thin upper lip vermilion 33 HP:0000219
15 low anterior hairline 33 HP:0000294
16 highly arched eyebrow 33 HP:0002553
17 long eyelashes 33 HP:0000527
18 synophrys 33 HP:0000664
19 hyperactivity 33 HP:0000752
20 prominent nose 33 HP:0000448
21 hirsutism 33 HP:0001007
22 poor speech 33 HP:0002465
23 broad hallux 33 HP:0010055

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
poor speech
delayed psychomotor development

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Eyes:
long eyelashes
synophrys
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

Head And Neck Face:
long philtrum

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

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

Muscle Soft Tissue:
hypotonia, neonatal

Skeletal Hands:
palmar crease

Clinical features from OMIM:

617126

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 30 TAF6

Anatomical Context for Alazami-Yuan Syndrome

Publications for Alazami-Yuan Syndrome

Articles related to Alazami-Yuan Syndrome:

# Title Authors Year
1
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. ( 25574841 )
2015
2
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. ( 25558065 )
2015

Variations for Alazami-Yuan Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 TAF6 p.Arg46Cys VAR_077840 rs727503778
2 TAF6 p.Ile71Thr VAR_077841 rs374993554

ClinVar genetic disease variations for Alazami-Yuan Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TAF6 NM_005641.3(TAF6): c.212T> C (p.Ile71Thr) single nucleotide variant Pathogenic/Likely pathogenic rs374993554 GRCh38 Chromosome 7, 100113899: 100113899
2 TAF6 NM_005641.3(TAF6): c.212T> C (p.Ile71Thr) single nucleotide variant Pathogenic/Likely pathogenic rs374993554 GRCh37 Chromosome 7, 99711522: 99711522
3 TAF6 NM_005641.3(TAF6): c.136C> T (p.Arg46Cys) single nucleotide variant Pathogenic rs727503778 GRCh38 Chromosome 7, 100114074: 100114074
4 TAF6 NM_005641.3(TAF6): c.136C> T (p.Arg46Cys) single nucleotide variant Pathogenic rs727503778 GRCh37 Chromosome 7, 99711697: 99711697

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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