AGBK
MCID: ALG027
MIFTS: 36

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 75
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 57 75 29 13 6 73
Mmedf 57 75
Agbk 57 75
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:



Summaries for Al-Gazali-Bakalinova Syndrome

UniProtKB/Swiss-Prot : 75 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 x-linked mental retardation craniofacial abnormal microcephaly club. An important gene associated with Al-Gazali-Bakalinova Syndrome is KIF7 (Kinesin Family Member 7). Affiliated tissues include brain, skin and bone, and related phenotypes are macrocephaly and malar flattening

Description 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 66)
# Related Disease Score Top Affiliating Genes
1 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.1
2 x-linked mental retardation craniofacial abnormal microcephaly club 12.1
3 immunodeficiency 49 11.8
4 arthrogryposis, distal, type 5 11.3
5 opsismodysplasia 11.1
6 larsen syndrome 11.0
7 osteoglophonic dysplasia 10.9
8 peroxisome biogenesis disorder 1a 10.9
9 ritscher-schinzel syndrome 1 10.9
10 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 10.9
11 chromosome 8p23.1 deletion 10.9
12 saethre-chotzen syndrome 10.8
13 jackson-weiss syndrome 10.8
14 coffin-siris syndrome 1 10.8
15 rubinstein-taybi syndrome 1 10.8
16 acrocallosal syndrome 10.8
17 fetal akinesia deformation sequence 10.8
18 peroxisome biogenesis disorder 2a 10.8
19 woodhouse-sakati syndrome 10.8
20 ritscher-schinzel syndrome 2 10.8
21 potocki-shaffer syndrome 10.8
22 gomez-lopez-hernandez syndrome 10.8
23 stickler syndrome, type i, nonsyndromic ocular 10.8
24 rubinstein-taybi syndrome 2 10.8
25 hirschsprung disease, cardiac defects, and autonomic dysfunction 10.8
26 peroxisome biogenesis disorder 3a 10.8
27 peroxisome biogenesis disorder 4a 10.8
28 peroxisome biogenesis disorder 5a 10.8
29 peroxisome biogenesis disorder 6a 10.8
30 peroxisome biogenesis disorder 7a 10.8
31 peroxisome biogenesis disorder 8a 10.8
32 peroxisome biogenesis disorder 10a 10.8
33 peroxisome biogenesis disorder 11a 10.8
34 peroxisome biogenesis disorder 12a 10.8
35 peroxisome biogenesis disorder 13a 10.8
36 antley-bixler syndrome 10.8
37 robinow syndrome 10.8
38 arrhinia 10.8
39 encephalocele 10.8
40 pterygium colli mental retardation digital anomalies 10.8
41 x-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis 10.8
42 multiple epiphyseal dysplasia 10.5
43 cleidocranial dysplasia 9.8
44 fibromatosis, gingival, with progressive deafness 9.7
45 macroglossia 9.7
46 hutchinson-gilford progeria syndrome 9.7
47 mitochondrial complex iv deficiency 9.7
48 fryns syndrome 9.7
49 myopathy, congenital, with fiber-type disproportion 9.7
50 orofaciodigital syndrome viii 9.7

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

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

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 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
8 joint dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001373
9 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
10 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
11 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
12 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
13 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
14 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
15 brain atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012444
16 clinodactyly 59 32 hallmark (90%) 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 motor delay 32 HP:0001270
22 molar tooth sign on mri 32 HP:0002419
23 multiple epiphyseal dysplasia 32 HP:0002654

Drugs & Therapeutics for Al-Gazali-Bakalinova Syndrome

Search Clinical Trials , 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
Brain, Skin, Bone, Heart

Publications for Al-Gazali-Bakalinova Syndrome

Articles related to Al-Gazali-Bakalinova Syndrome:

# Title Authors Year
1
Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome? ( 23431744 )
2012

Variations for Al-Gazali-Bakalinova Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 KIF7 p.Asn1060Ser VAR_071185 rs886039282

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

6
# 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
2 KIF7 NM_198525.2(KIF7): c.3179A> G (p.Asn1060Ser) single nucleotide variant Pathogenic rs886039282 GRCh37 Chromosome 15, 90173657: 90173657

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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