OGDNS
MCID: OGD001
MIFTS: 41

Ogden Syndrome (OGDNS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Ogden Syndrome

MalaCards integrated aliases for Ogden Syndrome:

Name: Ogden Syndrome 57 12 73 58 72 15 39 70
N-Terminal Acetyltransferase Deficiency 57 12 72 29 13 6
Ogdns 57 12 72
Natd 57 72
Premature Aging Appearance-Developmental Delay-Cardiac Arrhythmia Syndrome 58
X-Linked Malformation and Infantile Lethality Syndrome 12
N-Terminal Acetyltransferase Deficiency; Natd 57
N-Alpha-Acetyltransferase 12

Characteristics:

Orphanet epidemiological data:

58
ogden syndrome
Inheritance: X-linked dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
variable phenotype
variable severity
onset at birth
early death may occur from cardiogenic shock preceded by arrhythmia
two affected females have been reported (last curated november 2015)

Inheritance:
x-linked recessive
x-linked dominant


HPO:

31

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Ogden Syndrome

UniProtKB/Swiss-Prot : 72 N-terminal acetyltransferase deficiency: An enzymatic deficiency resulting in postnatal growth failure with severe delays and dysmorphic features. It is clinically characterized by wrinkled forehead, prominent eyes, widely opened anterior and posterior fontanels, downsloping palpebral fissures, thickened lids, large ears, flared nares, hypoplastic alae, short columella, protruding upper lip, and microretrognathia. There are also delayed closing of fontanels and broad great toes. Skin is characterized by redundancy or laxity with minimal subcutaneous fat, cutaneous capillary malformations, and very fine hair and eyebrows. Death results from cardiogenic shock following arrhythmia.

MalaCards based summary : Ogden Syndrome, also known as n-terminal acetyltransferase deficiency, is related to cryptorchidism, unilateral or bilateral and lung cancer. An important gene associated with Ogden Syndrome is NAA10 (N-Alpha-Acetyltransferase 10, NatA Catalytic Subunit). Affiliated tissues include lung, and related phenotypes are scoliosis and global developmental delay

Disease Ontology : 12 A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has material basis in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28.

OMIM® : 57 Ogden syndrome is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Most patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015). (300855) (Updated 20-May-2021)

Wikipedia : 73 Ogden Syndrome, also known as N-terminal acetyltransferase deficiency (NATD), is an X-linked disorder of... more...

Related Diseases for Ogden Syndrome

Graphical network of the top 20 diseases related to Ogden Syndrome:



Diseases related to Ogden Syndrome

Symptoms & Phenotypes for Ogden Syndrome

Human phenotypes related to Ogden Syndrome:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 occasional (7.5%) Frequent (79-30%) HP:0002650
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
4 fine hair 58 31 occasional (7.5%) Frequent (79-30%) HP:0002213
5 aplasia/hypoplasia of the eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0100840
6 delayed cranial suture closure 58 31 frequent (33%) Frequent (79-30%) HP:0000270
7 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
8 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
9 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
10 excessive daytime somnolence 58 31 frequent (33%) Frequent (79-30%) HP:0001262
11 broad hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010055
12 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
13 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
14 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
15 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
16 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
17 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
18 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
19 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
20 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
21 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
22 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
23 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
24 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
25 everted upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0010803
26 microretrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000308
27 pulmonary artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004415
28 underdeveloped nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000430
29 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
30 short columella 58 31 occasional (7.5%) Occasional (29-5%) HP:0002000
31 delayed gross motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0002194
32 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
33 cutis laxa 58 31 occasional (7.5%) Occasional (29-5%) HP:0000973
34 narrow forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000341
35 shuffling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002362
36 cardiogenic shock 58 31 occasional (7.5%) Occasional (29-5%) HP:0030149
37 abnormal head movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0002457
38 enlarged naris 58 31 occasional (7.5%) Occasional (29-5%) HP:0009931
39 capillary malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0025104
40 high palate 31 HP:0000218
41 depressed nasal bridge 31 HP:0005280
42 behavioral abnormality 58 Occasional (29-5%)
43 abnormality of the dentition 31 HP:0000164
44 wide nasal bridge 31 HP:0000431
45 microcephaly 31 HP:0000252
46 short stature 31 HP:0004322
47 stereotypy 31 HP:0000733
48 prominent forehead 31 HP:0011220
49 epicanthus 31 HP:0000286
50 atrial septal defect 31 HP:0001631

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
coarse facial features
prominent forehead
microretrognathia
prominent philtrum
wrinkled forehead
more
Head And Neck Head:
microcephaly

Head And Neck Ears:
low-set ears
large ears

Cardiovascular Vascular:
pulmonary artery stenosis

Immunology:
recurrent infections

Neurologic Central Nervous System:
cerebral atrophy
delayed psychomotor development, severe
hypotonia progressing to hypertonia

Cardiovascular Heart:
torsade de pointes
arrhythmias
atrial septal defect (asd)
ventral septal defect (vsd)
premature ventricular contraction (pvc)
more
Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
sparse eyebrows
prominent eyes
thick eyelids

Skeletal Spine:
scoliosis (in some patients)

Growth Other:
postnatal growth failure

Neurologic Behavioral Psychiatric Manifestations:
autistic feature
stereotypic behaviors

Genitourinary Internal Genitalia Male:
inguinal hernia
cryptorchidism

Growth Height:
short stature

Skin Nails Hair Skin:
redundant skin
cutis laxa
wrinkled forehead
cutaneous capillary malformations

Skin Nails Hair Hair:
long eyelashes
sparse eyebrows
fine hair (in some patients)

Head And Neck Nose:
short columella
broad nasal bridge
flat nasal bridge
hypoplastic alae nasi
flared nares

Muscle Soft Tissue:
minimal subcutaneous fat

Head And Neck Mouth:
thin upper lip
high-arched palate
protruding upper lip

Head And Neck Teeth:
dental abnormalities

Skeletal Feet:
broad great toes

Skeletal Skull:
delayed closure of fontanels

Clinical features from OMIM®:

300855 (Updated 20-May-2021)

Drugs & Therapeutics for Ogden Syndrome

Search Clinical Trials , NIH Clinical Center for Ogden Syndrome

Genetic Tests for Ogden Syndrome

Genetic tests related to Ogden Syndrome:

# Genetic test Affiliating Genes
1 N-Terminal Acetyltransferase Deficiency 29 NAA10

Anatomical Context for Ogden Syndrome

MalaCards organs/tissues related to Ogden Syndrome:

40
Lung

Publications for Ogden Syndrome

Articles related to Ogden Syndrome:

(show all 18)
# Title Authors PMID Year
1
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment. 57 6 61
26522270 2015
2
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. 57 6 61
25099252 2015
3
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. 61 6 57
21700266 2011
4
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 57 6
23020937 2012
5
Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. 6 61
25489052 2015
6
Lessons learned from additional research analyses of unsolved clinical exome cases. 6
28327206 2017
7
NAA10 variant in 38-week-gestation male patient: a case study. 61
33335012 2020
8
A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly. 61
31174490 2019
9
The N-end rule pathway enzyme Naa10 supports epiblast specification in mouse embryonic stem cells by modulating FGF/MAPK. 61
30993557 2019
10
NAA10-related syndrome. 61
30054457 2018
11
NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report. 61
29558889 2018
12
Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome. 61
28967461 2017
13
The Role of N-α-acetyltransferase 10 Protein in DNA Methylation and Genomic Imprinting. 61
28943313 2017
14
Proteomic and genomic characterization of a yeast model for Ogden syndrome. 61
27668839 2017
15
First Things First: Vital Protein Marks by N-Terminal Acetyltransferases. 61
27498224 2016
16
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency. 61
27094817 2016
17
A Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutant. 61
24408909 2014
18
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. 61
24431331 2014

Variations for Ogden Syndrome

ClinVar genetic disease variations for Ogden Syndrome:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NAA10 NM_003491.4(NAA10):c.128A>C (p.Tyr43Ser) SNV Pathogenic 218104 rs863225427 GRCh37: X:153199447-153199447
GRCh38: X:153933994-153933994
2 NAA10 NM_003491.4(NAA10):c.384T>A (p.Phe128Leu) SNV Pathogenic 236258 GRCh37: X:153197526-153197526
GRCh38: X:153932073-153932073
3 NAA10 NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) SNV Pathogenic 280237 rs878853263 GRCh37: X:153197526-153197526
GRCh38: X:153932073-153932073
4 NAA10 NM_003491.4(NAA10):c.494_495del (p.Lys165fs) Deletion Pathogenic 561061 rs1569546255 GRCh37: X:153195653-153195654
GRCh38: X:153930200-153930201
5 NAA10 NM_003491.4(NAA10):c.332T>G (p.Val111Gly) SNV Pathogenic 520542 rs1557107528 GRCh37: X:153197778-153197778
GRCh38: X:153932325-153932325
6 NAA10 NM_003491.4(NAA10):c.472-2A>C SNV Pathogenic 1028122 GRCh37: X:153195678-153195678
GRCh38: X:153930225-153930225
7 NAA10 NM_003491.4(NAA10):c.382T>A (p.Phe128Ile) SNV Pathogenic 236259 GRCh37: X:153197528-153197528
GRCh38: X:153932075-153932075
8 NAA10 NM_003491.4(NAA10):c.247C>T (p.Arg83Cys) SNV Pathogenic 208664 GRCh37: X:153197863-153197863
GRCh38: X:153932410-153932410
9 NAA10 NM_003491.4(NAA10):c.257T>G (p.Leu86Arg) SNV Pathogenic 973227 GRCh37: X:153197853-153197853
GRCh38: X:153932400-153932400
10 NAA10 NM_003491.4(NAA10):c.319G>T (p.Val107Phe) SNV Pathogenic 139643 rs587780562 GRCh37: X:153197791-153197791
GRCh38: X:153932338-153932338
11 NAA10 NM_003491.4(NAA10):c.109T>C (p.Ser37Pro) SNV Pathogenic 29927 rs387906701 GRCh37: X:153199841-153199841
GRCh38: X:153934388-153934388
12 NAA10 NM_003491.4(NAA10):c.346C>T (p.Arg116Trp) SNV Pathogenic 139644 GRCh37: X:153197564-153197564
GRCh38: X:153932111-153932111
13 NAA10 NM_003491.4(NAA10):c.361C>G (p.Leu121Val) SNV Likely pathogenic 431708 rs1557107462 GRCh37: X:153197549-153197549
GRCh38: X:153932096-153932096
14 NAA10 NM_003491.4(NAA10):c.115C>A (p.Pro39Thr) SNV Likely pathogenic 637034 rs1603290816 GRCh37: X:153199835-153199835
GRCh38: X:153934382-153934382
15 NAA10 NM_003491.4(NAA10):c.377T>G (p.Leu126Arg) SNV Likely pathogenic 804121 rs1603290291 GRCh37: X:153197533-153197533
GRCh38: X:153932080-153932080
16 NAA10 NM_003491.4(NAA10):c.116C>T (p.Pro39Leu) SNV Likely pathogenic 804122 rs1557107942 GRCh37: X:153199834-153199834
GRCh38: X:153934381-153934381
17 NAA10 NM_003491.4(NAA10):c.259G>T (p.Ala87Ser) SNV Likely pathogenic 488558 rs1557107543 GRCh37: X:153197851-153197851
GRCh38: X:153932398-153932398
18 NAA10 NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) SNV Likely pathogenic 375388 rs1057519448 GRCh37: X:153198002-153198002
GRCh38: X:153932549-153932549
19 NAA10 NM_003491.4(NAA10):c.290C>A (p.Ala97Asp) SNV Likely pathogenic 1028121 GRCh37: X:153197820-153197820
GRCh38: X:153932367-153932367
20 NAA10 NM_003491.4(NAA10):c.303C>G (p.Asn101Lys) SNV Uncertain significance 870098 GRCh37: X:153197807-153197807
GRCh38: X:153932354-153932354
21 NAA10 NM_003491.4(NAA10):c.303C>A (p.Asn101Lys) SNV Uncertain significance 929440 GRCh37: X:153197807-153197807
GRCh38: X:153932354-153932354
22 NAA10 NM_003491.4(NAA10):c.430G>A (p.Ala144Thr) SNV Uncertain significance 983066 GRCh37: X:153196257-153196257
GRCh38: X:153930804-153930804
23 NAA10 NM_003491.4(NAA10):c.534C>A (p.Asn178Lys) SNV Uncertain significance 1028123 GRCh37: X:153195614-153195614
GRCh38: X:153930161-153930161

UniProtKB/Swiss-Prot genetic disease variations for Ogden Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 NAA10 p.Ser37Pro VAR_066652 rs387906701
2 NAA10 p.Tyr43Ser VAR_075206 rs863225427
3 NAA10 p.Arg83His VAR_082604

Expression for Ogden Syndrome

Search GEO for disease gene expression data for Ogden Syndrome.

Pathways for Ogden Syndrome

GO Terms for Ogden Syndrome

Cellular components related to Ogden Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.07 THOC7 NAA50 NAA40 NAA35 NAA30 NAA20
2 polysome GO:0005844 9.33 NAA35 NAA30 GCN1
3 NatC complex GO:0031417 8.96 NAA35 NAA30
4 NatA complex GO:0031415 8.92 NAA50 NAA15 NAA11 NAA10

Biological processes related to Ogden Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone H4 acetylation GO:0043967 9.5 NAA60 NAA50 NAA40
2 N-terminal peptidyl-methionine acetylation GO:0017196 9.35 NAA60 NAA35 NAA30 NAA20 NAA15
3 N-terminal peptidyl-glutamic acid acetylation GO:0018002 9.26 NAA11 NAA10
4 N-terminal protein amino acid acetylation GO:0006474 9.17 NAA60 NAA50 NAA40 NAA35 NAA15 NAA11
5 N-terminal peptidyl-serine acetylation GO:0017198 9.16 NAA11 NAA10

Molecular functions related to Ogden Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.03 NAA60 NAA50 NAA40 NAA30 NAA20 NAA11
2 transferase activity, transferring acyl groups GO:0016746 9.7 NAA60 NAA50 NAA40 NAA30 NAA20 NAA11
3 ribosome binding GO:0043022 9.58 NAA15 NAA10 GCN1
4 H4 histone acetyltransferase activity GO:0010485 9.5 NAA60 NAA50 NAA40
5 N-acetyltransferase activity GO:0008080 9.5 NAA60 NAA50 NAA40 NAA30 NAA20 NAA11
6 acetyltransferase activity GO:0016407 9.46 NAA15 NAA10
7 peptide-serine-N-acetyltransferase activity GO:1990189 9.43 NAA40 NAA11 NAA10
8 peptide-glutamate-N-acetyltransferase activity GO:1990190 9.37 NAA11 NAA10
9 peptide alpha-N-acetyltransferase activity GO:0004596 9.17 NAA60 NAA50 NAA30 NAA20 NAA15 NAA11

Sources for Ogden Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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