ALGAZ
MCID: ALG026
MIFTS: 26

Al-Gazali Syndrome (ALGAZ)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Al-Gazali Syndrome

MalaCards integrated aliases for Al-Gazali Syndrome:

Name: Al-Gazali Syndrome 57 73 36 6 39 71
Algaz 57 73
Eye Defects-Arachnodactyly-Cardiopathy Syndrome 58
Eye Defects Arachnodactyly Cardiopathy 20
Al Gazali Al Talabani Syndrome 20
Al Gazali-Al Talabani Syndrome 58
Al Gazali-Lytle Syndrome 58
Al Gazali Syndrome 20

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 609465
KEGG 36 H02436
MeSH 44 D000015
Orphanet 58 ORPHA2725
MedGen 41 C1836121
UMLS 71 C1836121

Summaries for Al-Gazali Syndrome

UniProtKB/Swiss-Prot : 73 Al-Gazali syndrome: A severe disorder characterized by prenatal growth retardation, large joints contractures, camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. The transmission pattern of the disorder is consistent with autosomal recessive inheritance.

MalaCards based summary : Al-Gazali Syndrome, also known as algaz, is related to clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly and spondyloepimetaphyseal dysplasia. An important gene associated with Al-Gazali Syndrome is B3GALT6 (Beta-1,3-Galactosyltransferase 6), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Glycosaminoglycan biosynthesis - heparan sulfate / heparin. Affiliated tissues include eye, bone and heart, and related phenotypes are cataract and craniofacial hyperostosis

OMIM® : 57 Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality (summary by Ben-Mahmoud et al., 2018). (609465) (Updated 05-Mar-2021)

KEGG : 36 Al-Gazali syndrome (ALGAZ) is characterized by multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality. Pathogenic variants in B3GALT6 have been reported to cause ALGAZ. This gene encodes an essential component of the glycosaminoglycan synthesis pathway.

Related Diseases for Al-Gazali Syndrome

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

# Related Disease Score Top Affiliating Genes
1 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
2 spondyloepimetaphyseal dysplasia 10.1
3 spondyloepimetaphyseal dysplasia with joint laxity 10.1
4 clubfoot 10.1
5 ehlers-danlos syndrome 10.1

Graphical network of the top 20 diseases related to Al-Gazali Syndrome:



Diseases related to Al-Gazali Syndrome

Symptoms & Phenotypes for Al-Gazali Syndrome

Human phenotypes related to Al-Gazali Syndrome:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 craniofacial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004493
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
7 prominent occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0000269
8 abnormality of the hip bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003272
9 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
10 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
11 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
12 sandal gap 58 31 hallmark (90%) Very frequent (99-80%) HP:0001852
13 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
14 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
15 radioulnar synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002974
16 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
17 abnormal distal phalanx morphology of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009832
18 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
19 non-midline cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0100335
20 abnormality of cardiovascular system morphology 31 hallmark (90%) HP:0030680
21 malformation of the heart and great vessels 58 Very frequent (99-80%)
22 abnormality of pelvic girdle bone morphology 58 Very frequent (99-80%)

Clinical features from OMIM®:

609465 (Updated 05-Mar-2021)

Drugs & Therapeutics for Al-Gazali Syndrome

Search Clinical Trials , NIH Clinical Center for Al-Gazali Syndrome

Genetic Tests for Al-Gazali Syndrome

Anatomical Context for Al-Gazali Syndrome

MalaCards organs/tissues related to Al-Gazali Syndrome:

40
Eye, Bone, Heart

Publications for Al-Gazali Syndrome

Articles related to Al-Gazali Syndrome:

# Title Authors PMID Year
1
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations. 61 6 57
29443383 2018
2
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. 57 6 61
25149931 2014
3
Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome. 6 57
10319196 1999
4
Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family. 57 61
15602085 2005
5
Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome? 57
7981860 1994
6
Peters anomaly: A 5-year experience. 61
32107814 2020

Variations for Al-Gazali Syndrome

ClinVar genetic disease variations for Al-Gazali Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 B3GALT6 NM_080605.4(B3GALT6):c.476C>A (p.Ser159Tyr) SNV Pathogenic 869983 1:1168134-1168134 1:1232754-1232754
2 B3GALT6 NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp) SNV Pathogenic 838573 1:1168453-1168453 1:1233073-1233073
3 B3GALT6 NM_080605.4(B3GALT6):c.618C>G (p.Cys206Trp) SNV Pathogenic 869985 1:1168276-1168276 1:1232896-1232896

Expression for Al-Gazali Syndrome

Search GEO for disease gene expression data for Al-Gazali Syndrome.

Pathways for Al-Gazali Syndrome

Pathways related to Al-Gazali Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532
2 Glycosaminoglycan biosynthesis - heparan sulfate / heparin hsa00534

GO Terms for Al-Gazali Syndrome

Sources for Al-Gazali 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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