MCID: OGD001
MIFTS: 35

Ogden Syndrome

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ogden Syndrome

MalaCards integrated aliases for Ogden Syndrome:

Name: Ogden Syndrome 57 12 76 59 75 15 73
N-Terminal Acetyltransferase Deficiency 57 12 75 29 13 6
Ogdns 57 12 75
Natd 57 75
Premature Aging Appearance-Developmental Delay-Cardiac Arrhythmia Syndrome 59
X-Linked Malformation and Infantile Lethality Syndrome 12
N-Terminal Acetyltransferase Deficiency; Natd 57
N-Alpha-Acetyltransferase 12
Ogden Syndrome ) 40

Characteristics:

Orphanet epidemiological data:

59
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
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:

32

Classifications:



Summaries for Ogden Syndrome

UniProtKB/Swiss-Prot : 75 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 inguinal hernia and cryptorchidism

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)

Disease Ontology : 12 An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys.

Wikipedia : 76 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 10.0

Symptoms & Phenotypes for Ogden Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Ogden Syndrome:

32 (show all 45)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 cryptorchidism 32 HP:0000028
3 abnormality of the dentition 32 HP:0000164
4 thick upper lip vermilion 32 HP:0000215
5 high palate 32 HP:0000218
6 thin upper lip vermilion 32 HP:0000219
7 microcephaly 32 HP:0000252
8 delayed cranial suture closure 32 HP:0000270
9 coarse facial features 32 HP:0000280
10 epicanthus 32 HP:0000286
11 microretrognathia 32 HP:0000308
12 low-set ears 32 HP:0000369
13 macrotia 32 HP:0000400
14 underdeveloped nasal alae 32 HP:0000430
15 wide nasal bridge 32 HP:0000431
16 downslanted palpebral fissures 32 HP:0000494
17 proptosis 32 HP:0000520
18 long eyelashes 32 HP:0000527
19 sparse and thin eyebrow 32 HP:0000535
20 stereotypy 32 HP:0000733
21 global developmental delay 32 HP:0001263
22 hypertonia 32 HP:0001276
23 redundant skin 32 HP:0001582
24 ventricular septal defect 32 HP:0001629
25 atrial septal defect 32 HP:0001631
26 torsade de pointes 32 HP:0001664
27 short columella 32 HP:0002000
28 deep philtrum 32 HP:0002002
29 cerebral atrophy 32 HP:0002059
30 fine hair 32 occasional (7.5%) HP:0002213
31 scoliosis 32 occasional (7.5%) HP:0002650
32 recurrent infections 32 HP:0002719
33 minimal subcutaneous fat 32 HP:0003717
34 short stature 32 HP:0004322
35 pulmonary artery stenosis 32 HP:0004415
36 supraventricular tachycardia 32 HP:0004755
37 ventricular tachycardia 32 HP:0004756
38 depressed nasal bridge 32 HP:0005280
39 abnormality of the nares 32 HP:0005288
40 ventricular extrasystoles 32 HP:0006682
41 postnatal growth retardation 32 HP:0008897
42 facial wrinkling 32 HP:0009762
43 broad hallux 32 HP:0010055
44 everted upper lip vermilion 32 HP:0010803
45 prominent forehead 32 HP:0011220

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

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.29 NAA15
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.29 PPIA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.29 PPIA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.29 PPIA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.29 NAA15
6 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.29 NAA15 PSMC5 NAA10
7 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.29 NAA15
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.29 PSMC5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.29 PSMC5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.29 NAA15
11 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.29 NAA15
12 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.29 PSMC5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.29 PPIA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.29 PPIA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.29 NAA10
16 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.29 PSMC5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.29 PPIA NAA15 PSMC5
18 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.29 NAA15
19 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.29 NAA10
20 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.29 PPIA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.29 NAA10
22 Increased shRNA abundance (Z-score > 2) GR00366-A-92 10.29 PPIA
23 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.29 PSMC5 NAA10
24 Synthetic lethal with Ras GR00018-A-0 8.92 HOMER1 NAA10 NAA15 PSMC5

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:

41
Skin, Eye

Publications for Ogden Syndrome

Articles related to Ogden Syndrome:

# Title Authors Year
1
Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome. ( 28967461 )
2017
2
Proteomic and genomic characterization of a yeast model for Ogden syndrome. ( 27668839 )
2017
3
Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. ( 25489052 )
2015
4
A Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutant. ( 24408909 )
2014

Variations for Ogden Syndrome

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

75
# 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 24)
# 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 GRCh37 Chromosome X, 153197549: 153197549
20 NAA10 NM_003491.3(NAA10): c.361C> G (p.Leu121Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 153932096: 153932096
21 NAA10 NM_003491.3(NAA10): c.259G> T (p.Ala87Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 153197851: 153197851
22 NAA10 NM_003491.3(NAA10): c.259G> T (p.Ala87Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 153932398: 153932398
23 NAA10 NM_003491.3(NAA10): c.332T> G (p.Val111Gly) single nucleotide variant Pathogenic GRCh37 Chromosome X, 153197778: 153197778
24 NAA10 NM_003491.3(NAA10): c.332T> G (p.Val111Gly) single nucleotide variant Pathogenic GRCh38 Chromosome X, 153932325: 153932325

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 9.73 HOMER1 NAA10 NAA15 PPIA PSMC5 YWHAB
2 cytosol GO:0005829 9.43 HOMER1 NAA10 NAA15 PPIA PSMC5 YWHAB
3 postsynapse GO:0098794 9.16 HOMER1 PSMC5
4 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 regulation of mRNA stability GO:0043488 8.96 PSMC5 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 ribosome binding GO:0043022 9.16 NAA10 NAA15
2 acetyltransferase activity GO:0016407 8.96 NAA10 NAA15
3 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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