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AGBK
MCID: ALG027
MIFTS: 38

Al-Gazali-Bakalinova Syndrome (AGBK)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Al-Gazali-Bakalinova Syndrome

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MalaCards integrated aliases for Al-Gazali-Bakalinova Syndrome:

Name: Al-Gazali-Bakalinova Syndrome 56 73
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 56 73 29 13 6 71
Mmedf 56 73
Agbk 56 73
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies; Mmedf 56
Multiple Epiphyseal Dysplasia-Macrocephaly-Distinctive Facies Syndrome 58
Multiple Epiphyseal Dysplasia, Al-Gazali Type 58
Craniofacial Abnormalities 43

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Al-Gazali-Bakalinova Syndrome

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UniProtKB/Swiss-Prot : 73 Al-Gazali-Bakalinova syndrome: An autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

MalaCards based summary : Al-Gazali-Bakalinova Syndrome, also known as macrocephaly with multiple epiphyseal dysplasia and distinctive facies, is related to craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation and immunodeficiency 49. An important gene associated with Al-Gazali-Bakalinova Syndrome is KIF7 (Kinesin Family Member 7). The drugs Fentanyl and Remifentanil have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and heart, and related phenotypes are macrocephaly and malar flattening

More information from OMIM: 607131
Sources

Related Diseases for Al-Gazali-Bakalinova Syndrome

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

(show top 50) (show all 176)
# Related Disease Score Top Affiliating Genes
1 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.3
2 immunodeficiency 49 12.0
3 mullegama-klein-martinez syndrome 11.9
4 arthrogryposis, distal, type 2b1 11.8
5 ritscher-schinzel syndrome 1 11.5
6 encephalocele 11.3
7 saethre-chotzen syndrome 11.2
8 larsen syndrome 11.2
9 opsismodysplasia 11.2
10 osteoglophonic dysplasia 11.2
11 peroxisome biogenesis disorder 1a 11.1
12 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 11.1
13 chromosome 8p23.1 deletion 11.1
14 atelosteogenesis, type iii 10.9
15 jackson-weiss syndrome 10.9
16 coffin-siris syndrome 1 10.9
17 metatropic dysplasia 10.9
18 rubinstein-taybi syndrome 1 10.9
19 acrocallosal syndrome 10.9
20 fetal akinesia deformation sequence 1 10.9
21 peroxisome biogenesis disorder 2a 10.9
22 cohen syndrome 10.9
23 woodhouse-sakati syndrome 10.9
24 ritscher-schinzel syndrome 2 10.9
25 potocki-shaffer syndrome 10.9
26 peroxisome biogenesis disorder 1b 10.9
27 gomez-lopez-hernandez syndrome 10.9
28 stickler syndrome, type i, nonsyndromic ocular 10.9
29 glass syndrome 10.9
30 rubinstein-taybi syndrome 2 10.9
31 hirschsprung disease, cardiac defects, and autonomic dysfunction 10.9
32 peroxisome biogenesis disorder 3a 10.9
33 peroxisome biogenesis disorder 4a 10.9
34 peroxisome biogenesis disorder 5a 10.9
35 peroxisome biogenesis disorder 6a 10.9
36 peroxisome biogenesis disorder 7a 10.9
37 peroxisome biogenesis disorder 8a 10.9
38 peroxisome biogenesis disorder 10a 10.9
39 peroxisome biogenesis disorder 11a 10.9
40 peroxisome biogenesis disorder 12a 10.9
41 peroxisome biogenesis disorder 13a 10.9
42 white-sutton syndrome 10.9
43 fetal akinesia deformation sequence 2 10.9
44 fetal akinesia deformation sequence 3 10.9
45 fetal akinesia deformation sequence 4 10.9
46 weiss-kruszka syndrome 10.9
47 antley-bixler syndrome 10.9
48 robinow syndrome 10.9
49 zellweger syndrome 10.9
50 arrhinia 10.9

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



Diseases related to Al-Gazali-Bakalinova Syndrome
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Symptoms & Phenotypes for Al-Gazali-Bakalinova Syndrome

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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 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
5 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
6 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
7 joint dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001373
8 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
9 osteoarthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002758
10 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
11 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
12 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
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:

56
Head And Neck Head:
macrocephaly

Head And Neck Eyes:
hypertelorism

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum

Skeletal Limbs:
genu valgum
multiple epiphyseal dysplasia
prominent swollen joints

Genitourinary External Genitalia Male:
inguinal hernia

Muscle Soft Tissue:
lymphedema

Head And Neck Ears:
low-set

Head And Neck Face:
malar flattening
frontal bossing

Head And Neck Neck:
short neck

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

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

Genitourinary External Genitalia Female:
inguinal hernia

Growth Height:
normal

Skin Nails Hair Skin:
soft and lax skin

Clinical features from OMIM:

607131
Sources

Drugs & Therapeutics for Al-Gazali-Bakalinova Syndrome

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

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
2
Remifentanil Approved Phase 4 132875-61-7 60815
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
6
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
7
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
8 Narcotics Phase 4
9 Anesthetics Phase 4
10 Adrenergic Agonists Phase 4
11 Adrenergic alpha-2 Receptor Agonists Phase 4
12 Analgesics, Opioid Phase 4
13 Platelet Aggregation Inhibitors Phase 4
14 Analgesics, Non-Narcotic Phase 4
15 Adjuvants, Anesthesia Phase 4
16 Anesthetics, General Phase 4
17 Central Nervous System Depressants Phase 4
18 Anesthetics, Dissociative Phase 4
19 Hypnotics and Sedatives Phase 4
20 Anesthetics, Intravenous Phase 4
21 Anesthetics, Inhalation Phase 4
22 Adrenergic Agents Phase 4
23 Excitatory Amino Acid Antagonists Phase 4
24 Excitatory Amino Acids Phase 4
25
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
26 Tranquilizing Agents Phase 2
27 Psychotropic Drugs Phase 2
28 GABA Agents Phase 2
29 Anticonvulsants Phase 2
30 Antimanic Agents Phase 2
31 Histone Deacetylase Inhibitors Phase 2
32
Methylprednisolone Approved, Vet_approved 83-43-2 6741
33
Prednisolone Approved, Vet_approved 50-24-8 5755
34
Methylprednisolone hemisuccinate Approved 2921-57-5
35 Prednisolone acetate Approved, Vet_approved 52-21-1
36
Prednisolone phosphate Approved, Vet_approved 302-25-0
37
Adenosine Approved, Investigational 58-61-7 60961
38
Prednisolone hemisuccinate Experimental 2920-86-7
39 Methylprednisolone Acetate
40 Antiemetics
41 Anti-Inflammatory Agents
42 Hormone Antagonists
43 Neuroprotective Agents
44 Protective Agents
45 Autonomic Agents
46 Antineoplastic Agents, Hormonal
47 glucocorticoids
48 Hormones
49 Pepsin A
50 Immunoglobulins

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Opioid Free Anaesthesia vs Opioid Based Anesthesia in Cleft Lip, Palate ,Alveolus Surgery. Not yet recruiting NCT04081909 Phase 4 Fentanyl，Remifentanil;Ketamine,Dexmedetomidine
2 Impact of Physical Therapy Program in Mouthbreathing Children After Adenotonsillectomy: Randomized Clinical Trial. Unknown status NCT02373553 Phase 1, Phase 2
3 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
4 Cephalometric Indicators of Biological Responsiveness to Orthodontic Treatment of Class II/I in Growing Patients Completed NCT00248014 Phase 2
5 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
6 Role of a Written Summary on Risk Recall During Consent Process for Cleft Palate Repair Unknown status NCT02595307
7 Post-operative Oral Corticosteroids Following Tonsillectomy: A Randomized Controlled Trial Unknown status NCT03352115 Prednisolone;Placebos
8 FaceBase Biorepository Completed NCT01252264
9 Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome Completed NCT02435745
10 Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome Completed NCT02712060
11 Stereo Photogrammetry Soft Tissue in Normal Individuals and Patients With Craniofacial Dysmorphologies Completed NCT00100529
12 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
13 Intermediate Phenotype and Genetic Mechanisms for Psychosis and Cognitive Disturbance in 22q11.2-Hemideletion Syndrome Completed NCT00105274
14 Clinical Research Core Dental Screening Protocol Completed NCT00090818
15 Bone Regeneration Using Bone Marrow Stromal Cells Completed NCT00001391
16 Comparison of Three Methods Used in the Diagnosis of Extraesophageal Reflux in Children With Chronic Otitis Media With Effusion Completed NCT02183961
17 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
18 Mandibular Slotplates Recruiting NCT03679377
19 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
20 Online Psychosocial Support for Young People Distressed by Appearance-altering Conditions: A Randomised Control Trial (RCT) Recruiting NCT03165331
21 Pilot Study on High Resolution 3D Digital Scanning for Maxillofacial Prosthetics for Feasibility and Efficacy Recruiting NCT04035928
22 Personalized Three-Dimensionally Printed CPAP Masks for Obstructive Sleep Apnea Therapy in Children With Craniofacial Anomalies Recruiting NCT02261857 Early Phase 1
23 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Recruiting NCT01144741
24 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
25 Comparison of Two Oral Myofunctional Reeducation Methods for Children With Obstructive Sleep Apnea Before Adenotonsillectomy : a Randomized Controlled Trial. Enrolling by invitation NCT03061019
26 The Association Between Sleep Duration and Sleep Disorders and Proteinuria in Children Not yet recruiting NCT03933046
27 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
28 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
29 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

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Genetic Tests for Al-Gazali-Bakalinova Syndrome

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Genetic tests related to Al-Gazali-Bakalinova Syndrome:

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

Anatomical Context for Al-Gazali-Bakalinova Syndrome

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

40
Bone, Brain, Heart, Bone Marrow, Skin
Sources

Publications for Al-Gazali-Bakalinova Syndrome

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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. 56 6
22587682 2012
2
Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. 56 6
9689990 1998
3
Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome? 61 56
23431744 2012
4
Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. 56
11389160 2001
Sources

Variations for Al-Gazali-Bakalinova Syndrome

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF7 NM_198525.3(KIF7):c.3179A>G (p.Asn1060Ser)SNV Pathogenic 264771 rs886039282 15:90173657-90173657 15:89630426-89630426
2 KIF7 NM_198525.3(KIF7):c.67C>T (p.Arg23Ter)SNV Pathogenic 587434 rs1235928535 15:90196095-90196095 15:89652864-89652864
3 KIF7 NM_198525.3(KIF7):c.2420C>T (p.Thr807Met)SNV Uncertain significance 283078 rs757175418 15:90177089-90177089 15:89633858-89633858
4 KIF7 NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)SNV Uncertain significance 283923 rs553968087 15:90191752-90191752 15:89648521-89648521
5 KIF7 NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln)SNV Uncertain significance 286561 rs149078926 15:90188330-90188330 15:89645099-89645099
6 KIF7 NM_198525.3(KIF7):c.2482G>A (p.Val828Met)SNV Uncertain significance 384330 rs143915145 15:90177027-90177027 15:89633796-89633796
7 KIF7 NM_198525.3(KIF7):c.2354A>T (p.Glu785Val)SNV Uncertain significance 452288 rs759424882 15:90185474-90185474 15:89642243-89642243
8 KIF7 NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp)SNV Uncertain significance 522734 rs367734857 15:90177084-90177084 15:89633853-89633853

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

73
# Symbol AA change Variation ID SNP ID
1 KIF7 p.Asn1060Ser VAR_071185 rs886039282

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Expression for Al-Gazali-Bakalinova Syndrome

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

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GO Terms for Al-Gazali-Bakalinova Syndrome

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Sources for Al-Gazali-Bakalinova Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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