PREMATURE AGING SYNDROME, OKAMOTO TYPE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 601811
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0005280) Depressed nasal bridge 381 / 7739
2
 (HPO:0000311) Round face 104 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000518) Cataract 454 / 7739
5
 (HPO:0000377) Abnormality of the pinna 111 / 7739
6
 (HPO:0000369) Low-set ears 372 / 7739
7
 (HPO:0000819) Diabetes mellitus 131 / 7739
8
 (HPO:0002669) Osteosarcoma 12 / 7739
9
 (HPO:0000939) Osteoporosis 129 / 7739
10
 (HPO:0001507) Growth abnormality 36 / 7739
11
 (HPO:0001595) Abnormality of the hair 89 / 7739
12
 (HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
13
 (HPO:0002664) Neoplasm 111 / 7739
14
 (OMIM) Abnormal growth 1 / 7739
15
 (OMIM) Poor hair growth 1 / 7739
16
 (OMIM) Erythroid macrocytosis 1 / 7739
17
 (OMIM) Abnormal development 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: