MCID: GLB028
MIFTS: 8

Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Global Developmental Delay-Alopecia-Macrocephaly-Facial...

MalaCards integrated aliases for Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome:

Name: Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome 58
Ornithine Decarboxylase Deficiency 58
Bachmann-Bupp Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Orphanet 58 ORPHA544488

Summaries for Global Developmental Delay-Alopecia-Macrocephaly-Facial...

MalaCards based summary : Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome, also known as ornithine decarboxylase deficiency, is related to kala-azar 1 and leishmaniasis. An important gene associated with Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome is ODC1 (Ornithine Decarboxylase 1). Affiliated tissues include brain.

Related Diseases for Global Developmental Delay-Alopecia-Macrocephaly-Facial...

Diseases related to Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kala-azar 1 10.0
2 leishmaniasis 10.0
3 visceral leishmaniasis 10.0

Symptoms & Phenotypes for Global Developmental Delay-Alopecia-Macrocephaly-Facial...

Drugs & Therapeutics for Global Developmental Delay-Alopecia-Macrocephaly-Facial...

Search Clinical Trials , NIH Clinical Center for Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome

Genetic Tests for Global Developmental Delay-Alopecia-Macrocephaly-Facial...

Anatomical Context for Global Developmental Delay-Alopecia-Macrocephaly-Facial...

MalaCards organs/tissues related to Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome:

40
Brain

Publications for Global Developmental Delay-Alopecia-Macrocephaly-Facial...

Variations for Global Developmental Delay-Alopecia-Macrocephaly-Facial...

Expression for Global Developmental Delay-Alopecia-Macrocephaly-Facial...

Search GEO for disease gene expression data for Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome.

Pathways for Global Developmental Delay-Alopecia-Macrocephaly-Facial...

GO Terms for Global Developmental Delay-Alopecia-Macrocephaly-Facial...

Sources for Global Developmental Delay-Alopecia-Macrocephaly-Facial...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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