AGBK
MCID: ALG027
MIFTS: 31

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 58 76
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 58 76 30 13 6 74
Mmedf 58 76
Agbk 58 76
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies; Mmedf 58
Multiple Epiphyseal Dysplasia-Macrocephaly-Distinctive Facies Syndrome 60
Multiple Epiphyseal Dysplasia, Al-Gazali Type 60
Craniofacial Abnormalities 45

Characteristics:

Orphanet epidemiological data:

60
multiple epiphyseal dysplasia, al-gazali type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
al-gazali-bakalinova syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Al-Gazali-Bakalinova Syndrome

UniProtKB/Swiss-Prot : 76 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). 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 79)
# Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder, x-linked, with craniofacial abnormalities 12.4
2 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.2
3 immunodeficiency 49 11.9
4 arthrogryposis, distal, type 2b1 11.4
5 opsismodysplasia 11.1
6 larsen syndrome 11.0
7 osteoglophonic dysplasia 11.0
8 peroxisome biogenesis disorder 1a 11.0
9 ritscher-schinzel syndrome 1 11.0
10 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 11.0
11 chromosome 8p23.1 deletion 11.0
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 1 10.8
18 peroxisome biogenesis disorder 2a 10.8
19 cohen syndrome 10.8
20 woodhouse-sakati syndrome 10.8
21 ritscher-schinzel syndrome 2 10.8
22 potocki-shaffer syndrome 10.8
23 gomez-lopez-hernandez syndrome 10.8
24 stickler syndrome, type i, nonsyndromic ocular 10.8
25 rubinstein-taybi syndrome 2 10.8
26 hirschsprung disease, cardiac defects, and autonomic dysfunction 10.8
27 peroxisome biogenesis disorder 3a 10.8
28 peroxisome biogenesis disorder 4a 10.8
29 peroxisome biogenesis disorder 5a 10.8
30 peroxisome biogenesis disorder 6a 10.8
31 peroxisome biogenesis disorder 7a 10.8
32 peroxisome biogenesis disorder 8a 10.8
33 peroxisome biogenesis disorder 10a 10.8
34 peroxisome biogenesis disorder 11a 10.8
35 peroxisome biogenesis disorder 12a 10.8
36 peroxisome biogenesis disorder 13a 10.8
37 white-sutton syndrome 10.8
38 antley-bixler syndrome 10.8
39 robinow syndrome 10.8
40 arrhinia 10.8
41 encephalocele 10.8
42 pterygium colli mental retardation digital anomalies 10.8
43 x-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis 10.8
44 multiple epiphyseal dysplasia 10.5
45 cleidocranial dysplasia 9.8
46 acromegaly 9.8
47 cleft palate, isolated 9.7
48 coloboma of macula 9.7
49 fibromatosis, gingival, with progressive deafness 9.7
50 macroglossia 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

Human phenotypes related to Al-Gazali-Bakalinova Syndrome:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
3 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
4 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
5 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
6 pectus excavatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000767
7 joint dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001373
8 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
9 osteoarthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002758
10 genu valgum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002857
11 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
12 finger syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0006101
13 clinodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0030084
14 agenesis of corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0001274
15 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
16 brain atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0012444
17 inguinal hernia 33 HP:0000023
18 pectus carinatum 33 HP:0000768
19 abnormal facial shape 33 HP:0001999
20 lymphedema 33 HP:0001004
21 motor delay 33 HP:0001270
22 molar tooth sign on mri 33 HP:0002419
23 multiple epiphyseal dysplasia 33 HP:0002654

Symptoms via clinical synopsis from OMIM:

58
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

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 30 KIF7

Anatomical Context for Al-Gazali-Bakalinova Syndrome

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

42
Brain, Skin, Bone, Heart

Publications for Al-Gazali-Bakalinova Syndrome

Articles related to Al-Gazali-Bakalinova Syndrome:

# Title Authors Year
1
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. ( 22587682 )
2012
2
Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome? ( 23431744 )
2012
3
Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. ( 9689990 )
1998

Variations for Al-Gazali-Bakalinova Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 KIF7 p.Asn1060Ser VAR_071185 rs886039282

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

6 (show all 16)
# 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
3 KIF7 NM_198525.2(KIF7): c.2420C> T (p.Thr807Met) single nucleotide variant Uncertain significance rs757175418 GRCh37 Chromosome 15, 90177089: 90177089
4 KIF7 NM_198525.2(KIF7): c.2420C> T (p.Thr807Met) single nucleotide variant Uncertain significance rs757175418 GRCh38 Chromosome 15, 89633858: 89633858
5 KIF7 NM_198525.2(KIF7): c.1177G> T (p.Gly393Cys) single nucleotide variant Uncertain significance rs553968087 GRCh37 Chromosome 15, 90191752: 90191752
6 KIF7 NM_198525.2(KIF7): c.1177G> T (p.Gly393Cys) single nucleotide variant Uncertain significance rs553968087 GRCh38 Chromosome 15, 89648521: 89648521
7 KIF7 NM_198525.2(KIF7): c.2105G> A (p.Arg702Gln) single nucleotide variant Uncertain significance rs149078926 GRCh37 Chromosome 15, 90188330: 90188330
8 KIF7 NM_198525.2(KIF7): c.2105G> A (p.Arg702Gln) single nucleotide variant Uncertain significance rs149078926 GRCh38 Chromosome 15, 89645099: 89645099
9 KIF7 NM_198525.2(KIF7): c.2482G> A (p.Val828Met) single nucleotide variant Uncertain significance rs143915145 GRCh37 Chromosome 15, 90177027: 90177027
10 KIF7 NM_198525.2(KIF7): c.2482G> A (p.Val828Met) single nucleotide variant Uncertain significance rs143915145 GRCh38 Chromosome 15, 89633796: 89633796
11 KIF7 NM_198525.2(KIF7): c.2354A> T (p.Glu785Val) single nucleotide variant Uncertain significance rs759424882 GRCh37 Chromosome 15, 90185474: 90185474
12 KIF7 NM_198525.2(KIF7): c.2354A> T (p.Glu785Val) single nucleotide variant Uncertain significance rs759424882 GRCh38 Chromosome 15, 89642243: 89642243
13 KIF7 NM_198525.2(KIF7): c.2425C> T (p.Arg809Trp) single nucleotide variant Uncertain significance rs367734857 GRCh38 Chromosome 15, 89633853: 89633853
14 KIF7 NM_198525.2(KIF7): c.2425C> T (p.Arg809Trp) single nucleotide variant Uncertain significance rs367734857 GRCh37 Chromosome 15, 90177084: 90177084
15 KIF7 NM_198525.2(KIF7): c.67C> T (p.Arg23Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 89652864: 89652864
16 KIF7 NM_198525.2(KIF7): c.67C> T (p.Arg23Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 90196095: 90196095

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
20 FMA
29 GO
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31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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