AGBK
MCID: MCR021
MIFTS: 32

Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (AGBK) malady

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

Aliases & Classifications for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive...

Aliases & Descriptions for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies:

Name: Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 54 66 13 69
Multiple Epiphyseal Dysplasia-Macrocephaly-Distinctive Facies Syndrome 56
Multiple Epiphyseal Dysplasia, Al-Gazali Type 56
Al-Gazali-Bakalinova Syndrome 66
Craniofacial Abnormalities 42
Mmedf 66
Agbk 66

Characteristics:

Orphanet epidemiological data:

56
multiple epiphyseal dysplasia, al-gazali type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
macrocephaly with multiple epiphyseal dysplasia and distinctive facies:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 607131
Orphanet 56 ORPHA166024
ICD10 via Orphanet 34 Q77.3
MedGen 40 C1846722
ICD10 33 Q75.3

Summaries for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive...

UniProtKB/Swiss-Prot : 66 Al-Gazali-Bakalinova syndrome: An autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

MalaCards based summary : Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies, also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome, is related to x-linked mental retardation craniofacial abnormal microcephaly club and craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation, and has symptoms including macrocephaly, malar flattening and hypertelorism. An important gene associated with Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies is KIF7 (Kinesin Family Member 7). The drugs Tranexamic Acid and Carbamazepine have been mentioned in the context of this disorder. Affiliated tissues include bone and brain.

Description from OMIM: 607131

Related Diseases for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive...

Diseases related to Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
id Related Disease Score Top Affiliating Genes
1 x-linked mental retardation craniofacial abnormal microcephaly club 11.9
2 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 11.9
3 immunodeficiency 49 11.5
4 distal arthrogryposis 11.2
5 opsismodysplasia 10.8
6 arthrogryposis, distal, type 2b 10.8
7 larsen syndrome 10.8
8 short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 10.7
9 peroxisome biogenesis disorder 1a 10.7
10 ritscher-schinzel syndrome 10.7
11 peroxisome biogenesis disorder 12a 10.5
12 peroxisome biogenesis disorder 11a 10.5
13 peroxisome biogenesis disorder 2a 10.5
14 antley-bixler syndrome 10.5
15 stickler sydrome, type i, nonsyndromic ocular 10.5
16 fetal akinesia deformation sequence 10.5
17 robinow syndrome 10.5
18 peroxisome biogenesis disorder 4a 10.5
19 acrocallosal syndrome 10.5
20 ritscher-schinzel syndrome 2 10.5
21 rubinstein-taybi syndrome 10.5
22 peroxisome biogenesis disorder 10a 10.5
23 peroxisome biogenesis disorder 3a 10.5
24 saethre-chotzen syndrome 10.5
25 peroxisome biogenesis disorder 7a 10.5
26 jackson-weiss syndrome 10.5
27 rubinstein-taybi syndrome 2 10.5
28 osteoglophonic dysplasia 10.5
29 peroxisome biogenesis disorder 5a 10.5
30 peroxisome biogenesis disorder 6a 10.5
31 arrhinia 10.5
32 peroxisome biogenesis disorder 13a 10.5
33 gomez-lopez-hernandez syndrome 10.5
34 hirschsprung disease, cardiac defects, and autonomic dysfunction 10.5
35 peroxisome biogenesis disorder 8a, 10.5
36 encephalocele 10.5
37 potocki-shaffer syndrome 10.5
38 multiple epiphyseal dysplasia 10.3
39 arthrogryposis, renal dysfunction, and cholestasis 1 9.8 KIF7 MMEDF
40 cleidocranial dysplasia 9.7
41 holoprosencephaly 9.5
42 mucopolysaccharidoses 9.5
43 paternal uniparental disomy of chromosome 6 9.5
44 alobar holoprosencephaly 9.5
45 congenital fiber-type disproportion 9.5
46 cryptorchidism 9.5
47 mucopolysaccharidosis 9.5
48 progeria 9.5
49 myopathy 9.5
50 lujan-fryns syndrome 9.5

Graphical network of the top 20 diseases related to Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies:



Diseases related to Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies

Symptoms & Phenotypes for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive...

Symptoms by clinical synopsis from OMIM:

607131

Clinical features from OMIM:

607131

Human phenotypes related to Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
2 malar flattening 56 32 Very frequent (99-80%) HP:0000272
3 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
4 low-set ears 56 32 Very frequent (99-80%) HP:0000369
5 short neck 56 32 Very frequent (99-80%) HP:0000470
6 pectus excavatum 56 32 Very frequent (99-80%) HP:0000767
7 agenesis of corpus callosum 56 32 Frequent (79-30%) HP:0001274
8 joint dislocation 56 32 Very frequent (99-80%) HP:0001373
9 obesity 56 32 Frequent (79-30%) HP:0001513
10 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
11 osteoarthritis 56 32 Very frequent (99-80%) HP:0002758
12 genu valgum 56 32 Very frequent (99-80%) HP:0002857
13 abnormality of epiphysis morphology 56 32 Very frequent (99-80%) HP:0005930
14 finger syndactyly 56 32 Very frequent (99-80%) HP:0006101
15 brain atrophy 56 32 Frequent (79-30%) HP:0012444
16 clinodactyly 56 32 Very frequent (99-80%) HP:0030084
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 multiple epiphyseal dysplasia 32 HP:0002654

Drugs & Therapeutics for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive...

Drugs for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 198)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4,Phase 3 1197-18-8 5526
2
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
3
Celiprolol Approved, Investigational Phase 4 56980-93-9
4
Nicardipine Approved Phase 4 55985-32-5 4474
5
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
6
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
7
Remifentanil Approved Phase 4 132875-61-7 60815
8
Codeine Approved, Illicit Phase 4 76-57-3 5284371
9
Oxcarbazepine Approved Phase 4 28721-07-5 34312
10
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
11
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
12
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
13
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
14
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613 2171
15 Analgesics Phase 4,Phase 1,Phase 2
16 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
17 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
18 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1
19 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1
20 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
21 Vasodilator Agents Phase 4
22 Anti-Arrhythmia Agents Phase 4
23 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
24 Anti-Infective Agents Phase 4,Phase 2,Phase 1
25 Antifibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1
27 calcium channel blockers Phase 4
28 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
29 Adrenergic Agents Phase 4
30 Narcotics Phase 4
31 Adrenergic Agonists Phase 4
32 Adrenergic Antagonists Phase 4
33 Sodium Channel Blockers Phase 4
34 Adrenergic alpha-2 Receptor Agonists Phase 4
35 Adrenergic alpha-Agonists Phase 4
36 Adrenergic beta-1 Receptor Antagonists Phase 4
37 Adrenergic beta-Antagonists Phase 4
38 Cytochrome P-450 CYP3A Inducers Phase 4
39 Analgesics, Non-Narcotic Phase 4,Phase 1,Phase 2
40 Analgesics, Opioid Phase 4
41 Tranquilizing Agents Phase 4,Phase 2
42 Diuretics, Potassium Sparing Phase 4
43 Anesthetics, General Phase 4
44 Anesthetics, Inhalation Phase 4
45 Anesthetics, Intravenous Phase 4
46 Hypnotics and Sedatives Phase 4
47 Platelet Aggregation Inhibitors Phase 4
48 Anticonvulsants Phase 4,Phase 2
49 Psychotropic Drugs Phase 4,Phase 2
50 Antihypertensive Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 238)
id Name Status NCT ID Phase
1 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4
2 Double Blind Randomized Study Into the Efficacy of Codeine Phosphate Analgesia After Cleft Palate Repair in Infants Completed NCT00386269 Phase 4
3 Acid Tranexamic Effectiveness in Reducing the Intraoperative Bleeding in Palatoplasty Completed NCT02422056 Phase 4
4 The Effect of Deliberate Hypotension on QTc, Tp-e Intervals and Heart Rate Variability Completed NCT01634594 Phase 4
5 Efficacy, Safety, and Tolerability of Oxcarbazepine Monotherapy in Children With Partial Seizures Completed NCT00275912 Phase 4
6 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Recruiting NCT02188576 Phase 4
7 The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery Recruiting NCT02953145 Phase 4
8 The Role of Antibiotic Prophylaxis in Cleft Palate and Velopharyngeal Insufficiency Repair Recruiting NCT02688634 Phase 4
9 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4
10 Dexmedetomidine vs Placebo for Pediatric Cleft Palate Repair Not yet recruiting NCT02915042 Phase 4
11 Tranexamic Acid for Craniofacial Surgery Terminated NCT00722436 Phase 4
12 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4
13 Comparative Results of Maxillary Deficiency Treatment by Fixed Tongue Appliance and Fixed Facemask in Growing Patients Unknown status NCT00916084 Phase 3
14 Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome. Unknown status NCT02070211 Phase 2, Phase 3
15 Posterior Compression Distraction Reduction (CDR)Technique in the Treatment of BI-AAD Unknown status NCT02463630 Phase 3
16 Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic Acid Unknown status NCT01094977 Phase 3
17 Comparative Study Between Levobupivacaine and Bupivacaine for Nerve Block During Pediatric Primary Cleft Palate Surgery Completed NCT02923869 Phase 2, Phase 3
18 Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658 Completed NCT01529944 Phase 3
19 Oral Cleft Prevention Trial in Brazil Completed NCT00098319 Phase 3
20 Comparative Results of Maxillary Deficiency Treatment by Tongue Plate and Facemask in Growing Patients Completed NCT00519415 Phase 3
21 Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome Completed NCT01529840 Phase 3
22 Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome Completed NCT00452725 Phase 3
23 Oral Cleft Prevention Program Completed NCT00397917 Phase 3
24 Clinical Trial of New Elastomer for Maxillofacial Prosthetics Completed NCT00123097 Phase 3
25 Assessing the Results of Lip Surgery in Patients With Cleft Lip and Palate Completed NCT00070811 Phase 2, Phase 3
26 Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome Recruiting NCT02713945 Phase 3
27 Preventive EXACYL® on Perioperative Bleeding During Orthognathism of Maxillary Surgery Recruiting NCT02702128 Phase 3
28 Effects of PTH Replacement on Bone in Hypoparathyroidism Active, not recruiting NCT00395538 Phase 3
29 Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome Active, not recruiting NCT01927861 Phase 3
30 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
31 Cleft Palate Surgery and Speech Development Completed NCT00004639 Phase 2
32 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2
33 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2
34 Cell Therapy for Craniofacial Bone Defects Completed NCT01616953 Phase 1, Phase 2
35 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
36 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2
37 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2
38 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850 Phase 2
39 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
40 Does Use of Rigid Fixation After Removing Distraction Osteogenesis Device Reduce the Relapse? Completed NCT02350803 Phase 2
41 Preoperative Antibiotics Study Completed NCT00760006 Phase 2
42 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2
43 Pilot Study of Thalidomide to Treat Sjogren's Syndrome Completed NCT00001599 Phase 2
44 Safety of and Immune Response to the Human Papillomavirus (HPV) Vaccine in HIV-Infected Women Completed NCT00604175 Phase 2
45 Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Completed NCT01775462 Phase 2
46 3D-Printed CPAP Masks for Children With Obstructive Sleep Apnea Recruiting NCT02261857 Phase 1, Phase 2
47 Improvement of the Appearance of Cleft Lip Scars Using Botox Recruiting NCT02247193 Phase 1, Phase 2
48 Efficacy of Amicar for Children Having Craniofacial Surgery Recruiting NCT02229968 Phase 2
49 Effects of Oral Melatonin on Neurosensory Recovery Following Facial Osteotomies Recruiting NCT02889432 Phase 2
50 Ambrisentan in Single Ventricle Recruiting NCT02080637 Phase 2

Search NIH Clinical Center for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies

Cochrane evidence based reviews: craniofacial abnormalities

Genetic Tests for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive...

Anatomical Context for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive...

MalaCards organs/tissues related to Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies:

39
Bone, Brain

Publications for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive...

Variations for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive...

UniProtKB/Swiss-Prot genetic disease variations for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies:

66
id Symbol AA change Variation ID SNP ID
1 KIF7 p.Asn1060Ser VAR_071185

ClinVar genetic disease variations for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KIF7 NM_198525.2(KIF7): c.3179A> G (p.Asn1060Ser) single nucleotide variant Pathogenic rs886039282 GRCh38 Chromosome 15, 89630426: 89630426

Expression for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive...

Search GEO for disease gene expression data for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies.

Pathways for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive...

GO Terms for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive...

Sources for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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