MCID: ALZ044
MIFTS: 17

Alazami-Yuan Syndrome

Categories: Genetic diseases

Aliases & Classifications for Alazami-Yuan Syndrome

MalaCards integrated aliases for Alazami-Yuan Syndrome:

Name: Alazami-Yuan Syndrome 57 75 29 6
Alyus 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
alazami-yuan syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Alazami-Yuan Syndrome

UniProtKB/Swiss-Prot : 75 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 cryptorchidism and narrow mouth

Description from OMIM: 617126

Related Diseases for Alazami-Yuan Syndrome

Symptoms & Phenotypes for Alazami-Yuan Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Alazami-Yuan Syndrome:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 narrow mouth 32 HP:0000160
3 high palate 32 HP:0000218
4 thin upper lip vermilion 32 HP:0000219
5 microcephaly 32 HP:0000252
6 low anterior hairline 32 HP:0000294
7 long philtrum 32 HP:0000343
8 prominent nasal bridge 32 HP:0000426
9 underdeveloped nasal alae 32 HP:0000430
10 prominent nose 32 HP:0000448
11 long eyelashes 32 HP:0000527
12 thick eyebrow 32 HP:0000574
13 synophrys 32 HP:0000664
14 dental crowding 32 HP:0000678
15 hyperactivity 32 HP:0000752
16 hirsutism 32 HP:0001007
17 intellectual disability 32 HP:0001249
18 global developmental delay 32 HP:0001263
19 neonatal hypotonia 32 HP:0001319
20 poor speech 32 HP:0002465
21 highly arched eyebrow 32 HP:0002553
22 short stature 32 HP:0004322
23 broad hallux 32 HP:0010055

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

Variations for Alazami-Yuan Syndrome

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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