Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: N-TERMINAL ACETYLTRANSFERASE DEFICIENCY
NATD
OGDNS
Ogden syndrome
Number of Symptoms 40
OrphanetNr: 276432
OMIM Id: 300855
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic progeroid syndrome
 -Rare genetic disease
Progeroid syndrome
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
3
 (HPO:0005288) Abnormality of the nares 3 / 7739
4
 (HPO:0000215) Thick upper lip vermilion 17 / 7739
5
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
6
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
7
 (HPO:0002000) Short columella 11 / 7739
8
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
9
 (HPO:0000520) Proptosis 192 / 7739
10
 (HPO:0000308) Microretrognathia 78 / 7739
11
 (HPO:0000400) Macrotia 108 / 7739
12
 (HPO:0001276) Hypertonia 317 / 7739
13
 (HPO:0010055) Broad hallux 56 / 7739
14
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
15
 (HPO:0000023) Inguinal hernia 181 / 7739
16
 (HPO:0008897) Postnatal growth retardation 113 / 7739
17
 (HPO:0009762) Facial wrinkling 3 / 7739
18
 (HPO:0000973) Cutis laxa 43 / 7739
19
 (HPO:0002213) Fine hair rare [HPO:skoehler] 77 / 7739
20
 (HPO:0001582) Redundant skin 51 / 7739
21
 (HPO:0004755) Supraventricular tachycardia 20 / 7739
22
 (HPO:0011675) Arrhythmia 226 / 7739
23
 (HPO:0001631) Atria septal defect 274 / 7739
24
 (HPO:0001664) Torsade de pointes 15 / 7739
25
 (HPO:0006682) Ventricular extrasystoles 25 / 7739
26
 (HPO:0001629) Ventricular septal defect 316 / 7739
27
 (HPO:0004415) Pulmonary artery stenosis 25 / 7739
28
 (HPO:0004756) Ventricular tachycardia 55 / 7739
29
 (HPO:0003717) Minimal subcutaneous fat 4 / 7739
30
 (OMIM) Hypotonia progressing to hypertonia 1 / 7739
31
 (OMIM) Ventral septal defect (VSD) 2 / 7739
32
 (OMIM) Premature atrial contraction (PAC) 3 / 7739
33
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
34
 (OMIM) Hypoplastic alae nasai 1 / 7739
35
 (HPO:0002059) Cerebral atrophy 171 / 7739
36
 (OMIM) Cutaneous capillary malformations 1 / 7739
37
 (OMIM) Wrinkled forehead 1 / 7739
38
 (OMIM) Protruding upper lip 1 / 7739
39
 (OMIM) Thick eyelids 1 / 7739
40
 (OMIM) Flared nares 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rope et al. (2011) reported 2 families segregating an X-linked recessive condition characterized by postnatal growth failure with severe delays and dysmorphic features characterized by wrinkled forehead, prominent eyes, widely opened anterior and posterior fontanels, downsloping palpebral fissures, ...
Molecular genetics OMIM Rope et al. (2011) used X chromosome exon sequencing to identify a missense mutation (S37P; 300013.0001) in the NAA10 gene, encoding the catalytic subunit of the major human N-terminal acetyltransferase. The ser37-to-pro mutation was not identified in any ...