MCID: GLB028
MIFTS: 16

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


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 bachmann-bupp syndrome. 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 and eye, and related phenotypes are macrocephaly and global developmental delay

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 bachmann-bupp syndrome 11.7

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

Human phenotypes related to Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
4 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
5 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
6 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
7 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
8 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
9 large forehead 58 31 frequent (33%) Frequent (79-30%) HP:0002003
10 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
11 large for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001520
12 sparse eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000653
13 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
14 absent eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002223
15 bilateral cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0008689
16 bilateral ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0001488
17 hyperintensity of cerebral white matter on mri 58 31 frequent (33%) Frequent (79-30%) HP:0030890
18 perivascular spaces 58 31 frequent (33%) Frequent (79-30%) HP:0012520
19 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
20 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
21 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
22 vascular skin abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0011276
23 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
24 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
25 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
26 hypoplastic toenails 58 31 occasional (7.5%) Occasional (29-5%) HP:0001800
27 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
28 celiac disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0002608
29 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
30 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
31 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
32 sparse scalp hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002209
33 asthma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002099
34 broad forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000337
35 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
36 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
37 increased nuchal translucency 58 31 occasional (7.5%) Occasional (29-5%) HP:0010880
38 rib fusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000902
39 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
40 absent eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000561
41 sparse eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0045075
42 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
43 abnormality of the cerebellar vermis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002334
44 chronic constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0012450
45 dysplastic corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0006989
46 recurrent ear infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0410018
47 dilation of lateral ventricles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006956
48 dilated third ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0007082
49 thick corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007074
50 periventricular cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0007109

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, Eye

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....