AGBK
MCID: ALG027
MIFTS: 37

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 74
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 57 74 29 13 6 72
Mmedf 57 74
Agbk 57 74
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies; Mmedf 57
Multiple Epiphyseal Dysplasia-Macrocephaly-Distinctive Facies Syndrome 59
Multiple Epiphyseal Dysplasia, Al-Gazali Type 59
Craniofacial Abnormalities 44

Characteristics:

Orphanet epidemiological data:

59
multiple epiphyseal dysplasia, al-gazali type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
al-gazali-bakalinova syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 607131
ICD10 via Orphanet 34 Q77.3
UMLS via Orphanet 73 C1846722
Orphanet 59 ORPHA166024
MedGen 42 C1846722
UMLS 72 C1846722

Summaries for Al-Gazali-Bakalinova Syndrome

UniProtKB/Swiss-Prot : 74 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 neurodevelopmental disorder, x-linked, with craniofacial abnormalities and craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation. An important gene associated with Al-Gazali-Bakalinova Syndrome is KIF7 (Kinesin Family Member 7). The drugs Celiprolol and Sympathomimetics have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and skin, and related phenotypes are macrocephaly and malar flattening

More information from OMIM: 607131

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 176)
# Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder, x-linked, with craniofacial abnormalities 12.6
2 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.3
3 immunodeficiency 49 12.0
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 jackson-weiss syndrome 10.9
15 coffin-siris syndrome 1 10.9
16 metatropic dysplasia 10.9
17 rubinstein-taybi syndrome 1 10.9
18 acrocallosal syndrome 10.9
19 fetal akinesia deformation sequence 1 10.9
20 peroxisome biogenesis disorder 2a 10.9
21 cohen syndrome 10.9
22 woodhouse-sakati syndrome 10.9
23 ritscher-schinzel syndrome 2 10.9
24 potocki-shaffer syndrome 10.9
25 peroxisome biogenesis disorder 1b 10.9
26 gomez-lopez-hernandez syndrome 10.9
27 stickler syndrome, type i, nonsyndromic ocular 10.9
28 glass syndrome 10.9
29 rubinstein-taybi syndrome 2 10.9
30 hirschsprung disease, cardiac defects, and autonomic dysfunction 10.9
31 peroxisome biogenesis disorder 3a 10.9
32 peroxisome biogenesis disorder 4a 10.9
33 peroxisome biogenesis disorder 5a 10.9
34 peroxisome biogenesis disorder 6a 10.9
35 peroxisome biogenesis disorder 7a 10.9
36 peroxisome biogenesis disorder 8a 10.9
37 peroxisome biogenesis disorder 10a 10.9
38 peroxisome biogenesis disorder 11a 10.9
39 peroxisome biogenesis disorder 12a 10.9
40 peroxisome biogenesis disorder 13a 10.9
41 white-sutton syndrome 10.9
42 fetal akinesia deformation sequence 2 10.9
43 fetal akinesia deformation sequence 3 10.9
44 fetal akinesia deformation sequence 4 10.9
45 antley-bixler syndrome 10.9
46 robinow syndrome 10.9
47 zellweger syndrome 10.9
48 arrhinia 10.9
49 musculocontractural ehlers-danlos syndrome 10.9
50 pterygium colli mental retardation digital anomalies 10.9

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:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
3 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
4 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
5 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
6 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
7 joint dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001373
8 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
9 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
10 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
11 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
12 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
13 clinodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0030084
14 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
15 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
16 brain atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012444
17 inguinal hernia 32 HP:0000023
18 pectus carinatum 32 HP:0000768
19 abnormal facial shape 32 HP:0001999
20 lymphedema 32 HP:0001004
21 motor delay 32 HP:0001270
22 molar tooth sign on mri 32 HP:0002419
23 multiple epiphyseal dysplasia 32 HP:0002654

Symptoms via clinical synopsis from OMIM:

57
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

Drugs & Therapeutics for Al-Gazali-Bakalinova Syndrome

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

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celiprolol Approved, Investigational Phase 4 56980-93-9
2 Sympathomimetics Phase 4
3 Antihypertensive Agents Phase 4
4 Adrenergic beta-1 Receptor Antagonists Phase 4
5 Adrenergic beta-Antagonists Phase 4
6 Adrenergic Antagonists Phase 4
7 Adrenergic Agents Phase 4
8
Sulfamethoxazole Approved Phase 2 723-46-6 5329
9
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
10 Anti-Infective Agents Phase 2
11 Tranquilizing Agents Phase 2
12 Central Nervous System Depressants Phase 2
13 GABA Agents Phase 2
14 Antimanic Agents Phase 2
15 Histone Deacetylase Inhibitors Phase 2
16 Psychotropic Drugs Phase 2
17 Anticonvulsants Phase 2
18
Prednisolone phosphate Approved, Vet_approved 302-25-0
19
Methylprednisolone hemisuccinate Approved 2921-57-5
20
Methylprednisolone Approved, Vet_approved 83-43-2 6741
21
Prednisolone Approved, Vet_approved 50-24-8 5755
22
Adenosine Approved, Investigational 58-61-7 60961
23
Prednisolone hemisuccinate Experimental 2920-86-7
24 Anesthetics
25 Antibodies
26 Immunoglobulins
27 Pepsin A
28 Hormones
29 Autonomic Agents
30 Gastrointestinal Agents
31 Anti-Inflammatory Agents
32 Antiemetics
33 Neuroprotective Agents
34 glucocorticoids
35 Methylprednisolone Acetate
36 Protective Agents
37 Antineoplastic Agents, Hormonal
38 Hormone Antagonists
39 Hormones, Hormone Substitutes, and Hormone Antagonists
40 Prednisolone acetate
41 Neurotransmitter Agents
42 Peripheral Nervous System Agents
43 Anti-Arrhythmia Agents
44 Vasodilator Agents
45 Analgesics
46 Purinergic P1 Receptor Agonists

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Prevention of Vascular Complications by BetaBlocker Treatment in Vascular Ehlers-Danlos Syndrome Completed NCT00190411 Phase 4 celiprolol;Control
2 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie) Unknown status NCT02640443 Phase 2 Sulfamethoxazole
3 Impact of Physical Therapy Program in Mouthbreathing Children After Adenotonsillectomy: Randomized Clinical Trial. Unknown status NCT02373553 Phase 1, Phase 2
4 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
5 Cephalometric Indicators of Biological Responsiveness to Orthodontic Treatment of Class II/I in Growing Patients Completed NCT00248014 Phase 2
6 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
7 PREPL in Health and Disease Unknown status NCT02263781
8 Role of a Written Summary on Risk Recall During Consent Process for Cleft Palate Repair Unknown status NCT02595307
9 FaceBase Biorepository Completed NCT01252264
10 Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome Completed NCT02435745
11 Retrospective Cohort Study Assessing the Natural Course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and Sporadic and Hereditary Inclusion Body Myopathies (IBM) Completed NCT01902940
12 Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome Completed NCT02712060
13 Stereo Photogrammetry Soft Tissue in Normal Individuals and Patients With Craniofacial Dysmorphologies Completed NCT00100529
14 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
15 Comparison of Three Methods Used in the Diagnosis of Extraesophageal Reflux in Children With Chronic Otitis Media With Effusion Completed NCT02183961
16 Clinical Research Core Dental Screening Protocol Completed NCT00090818
17 Intermediate Phenotype and Genetic Mechanisms for Psychosis and Cognitive Disturbance in 22q11.2-Hemideletion Syndrome Completed NCT00105274
18 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
19 Bone Regeneration Using Bone Marrow Stromal Cells Completed NCT00001391
20 Mandibular Slotplates Recruiting NCT03679377
21 Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies Recruiting NCT02890641
22 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
23 Pilot Study on High Resolution 3D Digital Scanning for Maxillofacial Prosthetics for Feasibility and Efficacy Recruiting NCT04035928
24 Personalized Three-Dimensionally Printed CPAP Masks for Obstructive Sleep Apnea Therapy in Children With Craniofacial Anomalies Recruiting NCT02261857 Early Phase 1
25 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Recruiting NCT01144741
26 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
27 Online Psychosocial Support for Young People Distressed by Appearance-altering Conditions: A Randomised Control Trial (RCT) Active, not recruiting NCT03165331
28 Comparison of Two Oral Myofunctional Reeducation Methods for Children With Obstructive Sleep Apnea Before Adenotonsillectomy : a Randomized Controlled Trial. Enrolling by invitation NCT03061019
29 The Association Between Sleep Duration and Sleep Disorders and Proteinuria in Children Not yet recruiting NCT03933046
30 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
31 Post-operative Oral Corticosteroids Following Tonsillectomy: A Randomized Controlled Trial Not yet recruiting NCT03352115 Prednisolone;Placebos
32 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
33 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:

41
Bone, Brain, Skin, Bone Marrow

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. 8 71
22587682 2012
2
Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. 8 71
9689990 1998
3
Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome? 38 8
23431744 2012
4
Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. 8
11389160 2001

Variations for Al-Gazali-Bakalinova Syndrome

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

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

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

74
# 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
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28 GO
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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38 LifeMap
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44 MeSH
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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