MCID: MCR021
MIFTS: 15

Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies malady

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

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

Name: Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 49 11 67 65
Al-Gazali-Bakalinova Syndrome 67
 
Mmedf 67
Agbk 67

Classifications:



External Ids:

OMIM49 607131
MedGen34 C1846722
ICD1027 Q75.3
UMLS65 C1846722

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

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UniProtKB/Swiss-Prot:67 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 al-gazali-bakalinova syndrome, is related to typhus and pulmonary edema, and has symptoms including macrocephaly, hypertelorism and low-set, posteriorly rotated ears. An important gene associated with Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies is MMEDF (Macrocephaly With Multiple Epiphyseal Dysplasia And Distinctive Facies). Affiliated tissues include bone.

Description from OMIM:49 607131

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

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

idRelated DiseaseScoreTop Affiliating Genes
1typhus10.8
2pulmonary edema10.8

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

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Symptoms by clinical synopsis from OMIM:

607131

Clinical features from OMIM:

607131

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

(show all 29)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 hypertelorism hallmark (90%) HP:0000316
3 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
4 short neck hallmark (90%) HP:0000470
5 pectus excavatum hallmark (90%) HP:0000767
6 frontal bossing hallmark (90%) HP:0002007
7 osteoarthritis hallmark (90%) HP:0002758
8 genu valgum hallmark (90%) HP:0002857
9 deviation of finger hallmark (90%) HP:0004097
10 abnormality of epiphysis morphology hallmark (90%) HP:0005930
11 finger syndactyly hallmark (90%) HP:0006101
12 hypoplasia of the zygomatic bone hallmark (90%) HP:0010669
13 obesity typical (50%) HP:0001513
14 cerebral cortical atrophy typical (50%) HP:0002120
15 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
16 inguinal hernia HP:0000023
17 macrocephaly HP:0000256
18 malar flattening HP:0000272
19 hypertelorism HP:0000316
20 short neck HP:0000470
21 pectus excavatum HP:0000767
22 pectus carinatum HP:0000768
23 lymphedema HP:0001004
24 agenesis of corpus callosum HP:0001274
25 abnormal facial shape HP:0001999
26 frontal bossing HP:0002007
27 multiple epiphyseal dysplasia HP:0002654
28 genu valgum HP:0002857
29 clinodactyly HP:0030084

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

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Interventional clinical trials:

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

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

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

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

33
Bone

Animal Models for Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive... or affiliated genes

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

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

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

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

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

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

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet