NATD
MCID: OGD001
MIFTS: 35

Ogden Syndrome (NATD)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Ogden Syndrome

MalaCards integrated aliases for Ogden Syndrome:

Name: Ogden Syndrome 58 12 77 60 76 15 74
N-Terminal Acetyltransferase Deficiency 58 12 76 30 13 6
Ogdns 58 12 76
Natd 58 76
Premature Aging Appearance-Developmental Delay-Cardiac Arrhythmia Syndrome 60
X-Linked Malformation and Infantile Lethality Syndrome 12
N-Terminal Acetyltransferase Deficiency; Natd 58
N-Alpha-Acetyltransferase 12
Ogden Syndrome ) 41

Characteristics:

Orphanet epidemiological data:

60
ogden syndrome
Inheritance: X-linked dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
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:

33

Classifications:



Summaries for Ogden Syndrome

UniProtKB/Swiss-Prot : 76 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 lung cancer. An important gene associated with Ogden Syndrome is NAA10 (N(Alpha)-Acetyltransferase 10, NatA Catalytic Subunit). Affiliated tissues include skin and eye, and related phenotypes are scoliosis and global developmental delay

Disease Ontology : 12 An X-linked disease 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 : 58 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)

Wikipedia : 77 Ogden Syndrome, also known as n-terminal acetyltransferase deficiency (NATD), is an x-linked disorder of... more...

Related Diseases for Ogden Syndrome

Diseases related to Ogden Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lung cancer 10.2

Symptoms & Phenotypes for Ogden Syndrome

Human phenotypes related to Ogden Syndrome:

60 33 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 60 33 occasional (7.5%) Frequent (79-30%) HP:0002650
2 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
3 postnatal growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0008897
4 fine hair 60 33 occasional (7.5%) Frequent (79-30%) HP:0002213
5 aplasia/hypoplasia of the eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0100840
6 torticollis 60 33 frequent (33%) Frequent (79-30%) HP:0000473
7 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
8 cerebral atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002059
9 delayed cranial suture closure 60 33 frequent (33%) Frequent (79-30%) HP:0000270
10 excessive daytime somnolence 60 33 frequent (33%) Frequent (79-30%) HP:0001262
11 broad hallux 60 33 frequent (33%) Frequent (79-30%) HP:0010055
12 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
13 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
14 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
15 coarse facial features 60 33 occasional (7.5%) Occasional (29-5%) HP:0000280
16 macrotia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000400
17 hypertonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001276
18 arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011675
19 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
20 high, narrow palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0002705
21 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
22 underdeveloped nasal alae 60 33 occasional (7.5%) Occasional (29-5%) HP:0000430
23 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
24 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
25 proptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000520
26 lethargy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001254
27 everted upper lip vermilion 60 33 occasional (7.5%) Occasional (29-5%) HP:0010803
28 pulmonary artery stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004415
29 microretrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000308
30 shuffling gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002362
31 autistic behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000729
32 delayed gross motor development 60 33 occasional (7.5%) Occasional (29-5%) HP:0002194
33 short columella 60 33 occasional (7.5%) Occasional (29-5%) HP:0002000
34 abnormal head movements 60 33 occasional (7.5%) Occasional (29-5%) HP:0002457
35 cutis laxa 60 33 occasional (7.5%) Occasional (29-5%) HP:0000973
36 narrow forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0000341
37 enlarged naris 60 33 occasional (7.5%) Occasional (29-5%) HP:0009931
38 capillary malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0025104
39 cardiogenic shock 60 33 occasional (7.5%) Occasional (29-5%) HP:0030149
40 high palate 33 HP:0000218
41 behavioral abnormality 60 Occasional (29-5%)
42 depressed nasal bridge 33 HP:0005280
43 abnormality of the dentition 33 HP:0000164
44 wide nasal bridge 33 HP:0000431
45 microcephaly 33 HP:0000252
46 short stature 33 HP:0004322
47 stereotypy 33 HP:0000733
48 prominent forehead 33 HP:0011220
49 epicanthus 33 HP:0000286
50 atrial septal defect 33 HP:0001631

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
large ears

Head And Neck Face:
coarse facial features
prominent forehead
microretrognathia
prominent philtrum
wrinkled forehead
more
Growth Height:
short stature

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

Cardiovascular Vascular:
pulmonary artery stenosis

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

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
sparse eyebrows
prominent eyes
thick eyelids

Head And Neck Teeth:
dental abnormalities

Cardiovascular Heart:
arrhythmias
torsade de pointes
atrial septal defect (asd)
ventral septal defect (vsd)
premature ventricular contraction (pvc)
more
Growth Other:
postnatal growth failure

Neurologic Behavioral Psychiatric Manifestations:
autistic feature
stereotypic behaviors

Genitourinary Internal Genitalia Male:
inguinal hernia
cryptorchidism

Head And Neck Head:
microcephaly

Immunology:
recurrent infections

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

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

Muscle Soft Tissue:
minimal subcutaneous fat

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

Skeletal Spine:
scoliosis (in some patients)

Skeletal Feet:
broad great toes

Skeletal Skull:
delayed closure of fontanels

Clinical features from OMIM:

300855

GenomeRNAi Phenotypes related to Ogden Syndrome according to GeneCards Suite gene sharing:

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.44 NAA15
2 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.44 NAA15
3 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.44 NAA10 NAA15
4 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.44 NAA15
5 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.44 NAA15
6 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.44 NAA15
7 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.44 NAA10
8 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.44 NAA15
9 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.44 NAA15
10 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.44 NAA10
11 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.44 NAA10
12 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.44 NAA10

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 30 NAA10

Anatomical Context for Ogden Syndrome

MalaCards organs/tissues related to Ogden Syndrome:

42
Skin, Eye

Publications for Ogden Syndrome

Articles related to Ogden Syndrome:

# Title Authors Year
1
Proteomic and genomic characterization of a yeast model for Ogden syndrome. ( 27668839 )
2017
2
Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome. ( 28967461 )
2017
3
Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. ( 25489052 )
2015
4
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment. ( 26522270 )
2015
5
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. ( 25099252 )
2015
6
A Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutant. ( 24408909 )
2014
7
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. ( 23020937 )
2012
8
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. ( 21700266 )
2011

Variations for Ogden Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 NAA10 p.Ser37Pro VAR_066652 rs387906701
2 NAA10 p.Tyr43Ser VAR_075206 rs863225427

ClinVar genetic disease variations for Ogden Syndrome:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 NAA10 NM_003491.3(NAA10): c.109T> C (p.Ser37Pro) single nucleotide variant Pathogenic rs387906701 GRCh37 Chromosome X, 153199841: 153199841
2 NAA10 NM_003491.3(NAA10): c.109T> C (p.Ser37Pro) single nucleotide variant Pathogenic rs387906701 GRCh38 Chromosome X, 153934388: 153934388
3 NAA10 NM_003491.3(NAA10): c.319G> T (p.Val107Phe) single nucleotide variant Pathogenic rs587780562 GRCh37 Chromosome X, 153197791: 153197791
4 NAA10 NM_003491.3(NAA10): c.319G> T (p.Val107Phe) single nucleotide variant Pathogenic rs587780562 GRCh38 Chromosome X, 153932338: 153932338
5 NAA10 NM_003491.3(NAA10): c.346C> T (p.Arg116Trp) single nucleotide variant Pathogenic rs587780563 GRCh37 Chromosome X, 153197564: 153197564
6 NAA10 NM_003491.3(NAA10): c.346C> T (p.Arg116Trp) single nucleotide variant Pathogenic rs587780563 GRCh38 Chromosome X, 153932111: 153932111
7 NAA10 NM_003491.3(NAA10): c.247C> T (p.Arg83Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs797044868 GRCh37 Chromosome X, 153197863: 153197863
8 NAA10 NM_003491.3(NAA10): c.247C> T (p.Arg83Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs797044868 GRCh38 Chromosome X, 153932410: 153932410
9 NAA10 NM_003491.3(NAA10): c.128A> C (p.Tyr43Ser) single nucleotide variant Pathogenic rs863225427 GRCh37 Chromosome X, 153199447: 153199447
10 NAA10 NM_003491.3(NAA10): c.128A> C (p.Tyr43Ser) single nucleotide variant Pathogenic rs863225427 GRCh38 Chromosome X, 153933994: 153933994
11 NAA10 NM_003491.3(NAA10): c.384T> A (p.Phe128Leu) single nucleotide variant Pathogenic rs878853263 GRCh37 Chromosome X, 153197526: 153197526
12 NAA10 NM_003491.3(NAA10): c.384T> A (p.Phe128Leu) single nucleotide variant Pathogenic rs878853263 GRCh38 Chromosome X, 153932073: 153932073
13 NAA10 NM_003491.3(NAA10): c.382T> A (p.Phe128Ile) single nucleotide variant Pathogenic rs878853264 GRCh38 Chromosome X, 153932075: 153932075
14 NAA10 NM_003491.3(NAA10): c.382T> A (p.Phe128Ile) single nucleotide variant Pathogenic rs878853264 GRCh37 Chromosome X, 153197528: 153197528
15 NAA10 NM_003491.3(NAA10): c.384T> G (p.Phe128Leu) single nucleotide variant Pathogenic rs878853263 GRCh37 Chromosome X, 153197526: 153197526
16 NAA10 NM_003491.3(NAA10): c.384T> G (p.Phe128Leu) single nucleotide variant Pathogenic rs878853263 GRCh38 Chromosome X, 153932073: 153932073
17 NAA10 NM_003491.3(NAA10): c.215T> C (p.Ile72Thr) single nucleotide variant Pathogenic rs1057519448 GRCh38 Chromosome X, 153932549: 153932549
18 NAA10 NM_003491.3(NAA10): c.215T> C (p.Ile72Thr) single nucleotide variant Pathogenic rs1057519448 GRCh37 Chromosome X, 153198002: 153198002
19 NAA10 NM_003491.3(NAA10): c.361C> G (p.Leu121Val) single nucleotide variant Likely pathogenic rs1557107462 GRCh37 Chromosome X, 153197549: 153197549
20 NAA10 NM_003491.3(NAA10): c.361C> G (p.Leu121Val) single nucleotide variant Likely pathogenic rs1557107462 GRCh38 Chromosome X, 153932096: 153932096
21 NAA10 NM_003491.3(NAA10): c.259G> T (p.Ala87Ser) single nucleotide variant Likely pathogenic rs1557107543 GRCh37 Chromosome X, 153197851: 153197851
22 NAA10 NM_003491.3(NAA10): c.259G> T (p.Ala87Ser) single nucleotide variant Likely pathogenic rs1557107543 GRCh38 Chromosome X, 153932398: 153932398
23 NAA10 NM_003491.3(NAA10): c.332T> G (p.Val111Gly) single nucleotide variant Pathogenic rs1557107528 GRCh37 Chromosome X, 153197778: 153197778
24 NAA10 NM_003491.3(NAA10): c.332T> G (p.Val111Gly) single nucleotide variant Pathogenic rs1557107528 GRCh38 Chromosome X, 153932325: 153932325
25 NAA10 NM_003491.3(NAA10): c.494_495del (p.Lys165Argfs) deletion Pathogenic GRCh37 Chromosome X, 153195652: 153195654
26 NAA10 NM_003491.3(NAA10): c.494_495del (p.Lys165Argfs) deletion Pathogenic GRCh38 Chromosome X, 153930200: 153930201

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 NatA complex GO:0031415 8.62 NAA10 NAA15

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of catalytic activity GO:0043085 8.96 SAE1 YWHAB
2 N-terminal protein amino acid acetylation GO:0006474 8.62 NAA10 NAA15

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

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.26 SAE1 YWHAB
2 ribosome binding GO:0043022 9.16 NAA10 NAA15
3 acetyltransferase activity GO:0016407 8.96 NAA10 NAA15
4 peptide alpha-N-acetyltransferase activity GO:0004596 8.62 NAA10 NAA15

Sources for Ogden Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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