AGBK
MCID: ALG027
MIFTS: 38

Al-Gazali-Bakalinova Syndrome (AGBK)

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

Aliases & Classifications for Al-Gazali-Bakalinova Syndrome

MalaCards integrated aliases for Al-Gazali-Bakalinova Syndrome:

Name: Al-Gazali-Bakalinova Syndrome 57 72
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 57 72 29 13 6 70
Mmedf 57 72
Agbk 57 72
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies; Mmedf 57
Multiple Epiphyseal Dysplasia-Macrocephaly-Distinctive Facies Syndrome 58
Multiple Epiphyseal Dysplasia, Al-Gazali Type 58
Craniofacial Abnormalities 44

Characteristics:

Orphanet epidemiological data:

58
multiple epiphyseal dysplasia, al-gazali type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
one consanguineous omani family with a kif7 mutation has been described (last curated january 2016)


HPO:

31
al-gazali-bakalinova syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Al-Gazali-Bakalinova Syndrome

OMIM® : 57 Al-Gazali-Bakalinova syndrome (AGBK) is characterized by multiple epiphyseal dysplasia, macrocephaly, and distinctive facial features including frontal bossing, hypertelorism, flat malar regions, low-set ears, and short neck. Other features include pectus excavatum, spindle-shaped fingers, clinodactyly, prominent joints, and genu valgum (summary by Ali et al., 2012). (607131) (Updated 20-May-2021)

MalaCards based summary : Al-Gazali-Bakalinova Syndrome, also known as macrocephaly with multiple epiphyseal dysplasia and distinctive facies, is related to immunodeficiency 49 and mullegama-klein-martinez syndrome. An important gene associated with Al-Gazali-Bakalinova Syndrome is KIF7 (Kinesin Family Member 7). The drugs Valproic acid and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and bone marrow, and related phenotypes are macrocephaly and frontal bossing

UniProtKB/Swiss-Prot : 72 Al-Gazali-Bakalinova syndrome: An autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

Related Diseases for Al-Gazali-Bakalinova Syndrome

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

(show top 50) (show all 161)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 49 11.6
2 mullegama-klein-martinez syndrome 11.4
3 arthrogryposis, distal, type 2b1 11.3
4 larsen syndrome 11.1
5 opsismodysplasia 11.1
6 ritscher-schinzel syndrome 1 11.1
7 osteoglophonic dysplasia 11.1
8 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 11.1
9 peroxisome biogenesis disorder 1a 11.0
10 potocki-shaffer syndrome 11.0
11 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 11.0
12 weiss-kruszka syndrome 11.0
13 chromosome 8p23.1 deletion 11.0
14 encephalocele 10.9
15 saethre-chotzen syndrome 10.9
16 atelosteogenesis, type iii 10.8
17 jackson-weiss syndrome 10.8
18 coffin-siris syndrome 1 10.8
19 metatropic dysplasia 10.8
20 rubinstein-taybi syndrome 1 10.8
21 acrocallosal syndrome 10.8
22 fetal akinesia deformation sequence 1 10.8
23 peroxisome biogenesis disorder 2a 10.8
24 cohen syndrome 10.8
25 woodhouse-sakati syndrome 10.8
26 ritscher-schinzel syndrome 2 10.8
27 peroxisome biogenesis disorder 1b 10.8
28 gomez-lopez-hernandez syndrome 10.8
29 stickler syndrome, type i, nonsyndromic ocular 10.8
30 glass syndrome 10.8
31 rubinstein-taybi syndrome 2 10.8
32 hirschsprung disease, cardiac defects, and autonomic dysfunction 10.8
33 peroxisome biogenesis disorder 3a 10.8
34 peroxisome biogenesis disorder 4a 10.8
35 peroxisome biogenesis disorder 5a 10.8
36 peroxisome biogenesis disorder 6a 10.8
37 peroxisome biogenesis disorder 7a 10.8
38 peroxisome biogenesis disorder 8a 10.8
39 peroxisome biogenesis disorder 10a 10.8
40 peroxisome biogenesis disorder 11a 10.8
41 peroxisome biogenesis disorder 12a 10.8
42 peroxisome biogenesis disorder 13a 10.8
43 white-sutton syndrome 10.8
44 fetal akinesia deformation sequence 2 10.8
45 fetal akinesia deformation sequence 3 10.8
46 fetal akinesia deformation sequence 4 10.8
47 vertebral, cardiac, tracheoesophageal, renal, and limb defects 10.8
48 antley-bixler syndrome 10.8
49 robinow syndrome 10.8
50 zellweger syndrome 10.8

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



Diseases related to Al-Gazali-Bakalinova Syndrome

Symptoms & Phenotypes for Al-Gazali-Bakalinova Syndrome

Human phenotypes related to Al-Gazali-Bakalinova Syndrome:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
5 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
6 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
7 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
8 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
9 joint dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001373
10 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
11 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
12 osteoarthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002758
13 clinodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0030084
14 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
15 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
16 brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012444
17 inguinal hernia 31 HP:0000023
18 pectus carinatum 31 HP:0000768
19 abnormal facial shape 31 HP:0001999
20 lymphedema 31 HP:0001004
21 motor delay 31 HP:0001270
22 molar tooth sign on mri 31 HP:0002419
23 multiple epiphyseal dysplasia 31 HP:0002654

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly

Head And Neck Face:
frontal bossing
malar flattening

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Eyes:
hypertelorism

Skeletal Limbs:
genu valgum
multiple epiphyseal dysplasia
prominent swollen joints

Skeletal Hands:
clinodactyly
spindle-shaped fingers
interdigital soft tissue webbing

Head And Neck Ears:
low-set

Neurologic Central Nervous System:
agenesis of corpus callosum
molar tooth sign
developmental motor delay
frontotemporal brain atrophy

Head And Neck Neck:
short neck

Genitourinary External Genitalia Female:
inguinal hernia

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum

Muscle Soft Tissue:
lymphedema

Growth Height:
normal

Skin Nails Hair Skin:
soft and lax skin

Clinical features from OMIM®:

607131 (Updated 20-May-2021)

Drugs & Therapeutics for Al-Gazali-Bakalinova Syndrome

Drugs for Al-Gazali-Bakalinova Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
2
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 68602 5311068
3
Sevoflurane Approved, Vet_approved Phase 2 28523-86-6 5206
4
Gabexate Investigational Phase 2 39492-01-8
5 Psychotropic Drugs Phase 2
6 Anticonvulsants Phase 2
7 Histone Deacetylase Inhibitors Phase 2
8 Adrenergic alpha-Agonists Phase 2
9 Hypnotics and Sedatives Phase 2
10 Adrenergic Agonists Phase 2
11 Anesthetics, General Phase 2
12 Anesthetics, Inhalation Phase 2
13 Platelet Aggregation Inhibitors Phase 2
14 Adrenergic Agents Phase 2
15 Analgesics, Non-Narcotic Phase 2
16 Anesthetics Phase 2
17
Adenosine Approved, Investigational 58-61-7 60961
18 Neurotransmitter Agents
19 Analgesics
20 Anti-Arrhythmia Agents
21 Vasodilator Agents

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
2 Dexmedetomidine Versus Sevoflurane Inhalation for Fibreoptic Nasotracheal Intubation in Children With Anticipated Difficult Intubation Recruiting NCT04426552 Phase 2 dexmedetomidine;sevoflurane
3 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial Not yet recruiting NCT04465188 Phase 2
4 An Analysis of the Clinical Applicability of a Three-Dimensional Imaging Platform Used to Register the Influence of Orthognathic Surgery on Facial Hard and Soft Tissue in Patients With Congenital Maxillofacial Deformities. Unknown status NCT00285714
5 Role of a Written Summary on Risk Recall During Consent Process for Cleft Palate Repair Unknown status NCT02595307
6 FaceBase Biorepository Completed NCT01252264
7 Stereo Photogrammetry Soft Tissue in Normal Individuals and Patients With Craniofacial Dysmorphologies Completed NCT00100529
8 Personalized Three-Dimensionally Printed CPAP Masks for Obstructive Sleep Apnea Therapy in Children With Craniofacial Anomalies Completed NCT02261857 Early Phase 1
9 Bone Regeneration Using Bone Marrow Stromal Cells Completed NCT00001391
10 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
11 Mandibular Slotplates Recruiting NCT03679377
12 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
13 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Recruiting NCT01144741
14 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
15 Pilot Study on High Resolution 3D Digital Scanning for Maxillofacial Prosthetics for Feasibility and Efficacy Recruiting NCT04035928
16 Upper-airway Changes After Bimaxillary Advancement in Moderate-severe Obstructive Sleep Apnoea / Hypopnoea Syndrome Active, not recruiting NCT04301635
17 Online Psychosocial Support for Young People Distressed by Appearance-altering Conditions: A Randomised Control Trial (RCT) Active, not recruiting NCT03165331
18 Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters Not yet recruiting NCT01306994
19 Freeman-Sheldon Syndrome Quality of Life Study (FSS-QLS): Cross-sectional Study of Concomitant Disorder-Specific Contributors to Quality of Life and Clinical Outcome Terminated NCT01307475
20 Examining the Psychosocial Effects of Resiliency Training for Adolescents With Craniofacial Conditions and Their Caregivers Withdrawn NCT02562339

Search NIH Clinical Center for Al-Gazali-Bakalinova Syndrome

Cochrane evidence based reviews: craniofacial abnormalities

Genetic Tests for Al-Gazali-Bakalinova Syndrome

Genetic tests related to Al-Gazali-Bakalinova Syndrome:

# Genetic test Affiliating Genes
1 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 29 KIF7

Anatomical Context for Al-Gazali-Bakalinova Syndrome

MalaCards organs/tissues related to Al-Gazali-Bakalinova Syndrome:

40
Brain, Heart, Bone Marrow, Bone

Publications for Al-Gazali-Bakalinova Syndrome

Articles related to Al-Gazali-Bakalinova Syndrome:

# Title Authors PMID Year
1
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. 6 57
22587682 2012
2
Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. 6 57
9689990 1998
3
Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome? 61 57
23431744 2012
4
Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. 57
11389160 2001

Variations for Al-Gazali-Bakalinova Syndrome

ClinVar genetic disease variations for Al-Gazali-Bakalinova Syndrome:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIF7 NM_198525.3(KIF7):c.3179A>G (p.Asn1060Ser) SNV Pathogenic 264771 rs886039282 GRCh37: 15:90173657-90173657
GRCh38: 15:89630426-89630426
2 KIF7 NM_198525.3(KIF7):c.67C>T (p.Arg23Ter) SNV Pathogenic 587434 rs1235928535 GRCh37: 15:90196095-90196095
GRCh38: 15:89652864-89652864
3 KIF7 NM_198525.3(KIF7):c.2482G>A (p.Val828Met) SNV Uncertain significance 384330 rs143915145 GRCh37: 15:90177027-90177027
GRCh38: 15:89633796-89633796
4 KIF7 NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) SNV Uncertain significance 522734 rs367734857 GRCh37: 15:90177084-90177084
GRCh38: 15:89633853-89633853
5 KIF7 NM_198525.3(KIF7):c.2420C>T (p.Thr807Met) SNV Uncertain significance 283078 rs757175418 GRCh37: 15:90177089-90177089
GRCh38: 15:89633858-89633858
6 KIF7 NM_198525.3(KIF7):c.2354A>T (p.Glu785Val) SNV Uncertain significance 452288 rs759424882 GRCh37: 15:90185474-90185474
GRCh38: 15:89642243-89642243
7 KIF7 NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln) SNV Uncertain significance 286561 rs149078926 GRCh37: 15:90188330-90188330
GRCh38: 15:89645099-89645099
8 KIF7 NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) SNV Uncertain significance 283923 rs553968087 GRCh37: 15:90191752-90191752
GRCh38: 15:89648521-89648521
9 KIF7 NM_198525.3(KIF7):c.50G>A (p.Arg17Gln) SNV Uncertain significance 1024840 GRCh37: 15:90196112-90196112
GRCh38: 15:89652881-89652881
10 KIF7 NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln) SNV Uncertain significance 286561 rs149078926 GRCh37: 15:90188330-90188330
GRCh38: 15:89645099-89645099
11 KIF7 NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile) SNV Uncertain significance 596874 rs143877028 GRCh37: 15:90171840-90171840
GRCh38: 15:89628609-89628609
12 KIF7 NM_198525.3(KIF7):c.1069T>G (p.Trp357Gly) SNV Uncertain significance 1027928 GRCh37: 15:90191860-90191860
GRCh38: 15:89648629-89648629
13 KIF7 NM_198525.3(KIF7):c.1706G>A (p.Gly569Glu) SNV Uncertain significance 1027930 GRCh37: 15:90190143-90190143
GRCh38: 15:89646912-89646912
14 KIF7 NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp) SNV Uncertain significance 193949 rs141867330 GRCh37: 15:90185592-90185592
GRCh38: 15:89642361-89642361
15 KIF7 NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr) SNV Uncertain significance 194289 rs143250090 GRCh37: 15:90176418-90176418
GRCh38: 15:89633187-89633187
16 KIF7 NM_198525.3(KIF7):c.848G>A (p.Gly283Asp) SNV Uncertain significance 1027932 GRCh37: 15:90192280-90192280
GRCh38: 15:89649049-89649049
17 KIF7 NM_198525.3(KIF7):c.1180C>T (p.Pro394Ser) SNV Uncertain significance 1033263 GRCh37: 15:90191749-90191749
GRCh38: 15:89648518-89648518
18 KIF7 NM_198525.3(KIF7):c.1208T>C (p.Met403Thr) SNV Uncertain significance 1033264 GRCh37: 15:90191721-90191721
GRCh38: 15:89648490-89648490
19 KIF7 NM_198525.3(KIF7):c.1894C>T (p.Pro632Ser) SNV Uncertain significance 1033265 GRCh37: 15:90189152-90189152
GRCh38: 15:89645921-89645921
20 KIF7 NM_198525.3(KIF7):c.787G>T (p.Gly263Cys) SNV Uncertain significance 1033267 GRCh37: 15:90192341-90192341
GRCh38: 15:89649110-89649110

UniProtKB/Swiss-Prot genetic disease variations for Al-Gazali-Bakalinova Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 KIF7 p.Asn1060Ser VAR_071185 rs886039282

Expression for Al-Gazali-Bakalinova Syndrome

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

Pathways for Al-Gazali-Bakalinova Syndrome

GO Terms for Al-Gazali-Bakalinova Syndrome

Sources for Al-Gazali-Bakalinova 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
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