MCID: PRM291
MIFTS: 10

Premature Aging Syndrome, Okamoto Type

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Premature Aging Syndrome, Okamoto Type

MalaCards integrated aliases for Premature Aging Syndrome, Okamoto Type:

Name: Premature Aging Syndrome, Okamoto Type 57
Premature Aging Syndrome with Osteosarcoma Cataracts Diabetes Osteoporosis Erythroid Macrocytosis Severe Developmental Delay 53
Premature Aging Okamoto Type 53

Characteristics:

OMIM:

57
Inheritance:
? autosomal recessive


HPO:

32
premature aging syndrome, okamoto type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 601811
MedGen 42 C1866183

Summaries for Premature Aging Syndrome, Okamoto Type

MalaCards based summary : Premature Aging Syndrome, Okamoto Type, is also known as premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay. Related phenotypes are low-set ears and diabetes mellitus

More information from OMIM: 601811

Related Diseases for Premature Aging Syndrome, Okamoto Type

Symptoms & Phenotypes for Premature Aging Syndrome, Okamoto Type

Human phenotypes related to Premature Aging Syndrome, Okamoto Type:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 diabetes mellitus 32 HP:0000819
3 cataract 32 HP:0000518
4 depressed nasal bridge 32 HP:0005280
5 microcephaly 32 HP:0000252
6 osteoporosis 32 HP:0000939
7 neoplasm 32 HP:0002664
8 abnormality of the pinna 32 HP:0000377
9 round face 32 HP:0000311
10 osteosarcoma 32 HP:0002669
11 abnormality of blood and blood-forming tissues 32 HP:0001871
12 growth abnormality 32 HP:0001507
13 abnormal hair morphology 32 HP:0001595

Symptoms via clinical synopsis from OMIM:

57
Ears:
low-set ears
deformed ears

Head:
microcephaly

Oncology:
osteosarcoma

Growth:
premature aging
abnormal growth

Heme:
erythroid macrocytosis

Metabolic:
diabetes mellitus
osteoporosis

Facies:
round face
flat nasal bridge

Eyes:
cataracts

Neuro:
abnormal development

Hair:
poor hair growth

Clinical features from OMIM:

601811

Drugs & Therapeutics for Premature Aging Syndrome, Okamoto Type

Search Clinical Trials , NIH Clinical Center for Premature Aging Syndrome, Okamoto Type

Genetic Tests for Premature Aging Syndrome, Okamoto Type

Anatomical Context for Premature Aging Syndrome, Okamoto Type

Publications for Premature Aging Syndrome, Okamoto Type

Articles related to Premature Aging Syndrome, Okamoto Type:

# Title Authors PMID Year
1
Premature aging syndrome with osteosarcoma, cataracts, diabetes mellitus, osteoporosis, erythroid macrocytosis, severe growth and developmental deficiency. 8
9056555 1997

Variations for Premature Aging Syndrome, Okamoto Type

Expression for Premature Aging Syndrome, Okamoto Type

Search GEO for disease gene expression data for Premature Aging Syndrome, Okamoto Type.

Pathways for Premature Aging Syndrome, Okamoto Type

GO Terms for Premature Aging Syndrome, Okamoto Type

Sources for Premature Aging Syndrome, Okamoto Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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