MCID: PRM291
MIFTS: 12

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 56
Premature Aging Syndrome with Osteosarcoma Cataracts Diabetes Osteoporosis Erythroid Macrocytosis Severe Developmental Delay 52
Premature Aging Okamoto Type 52

Characteristics:

OMIM:

56
Inheritance:
? autosomal recessive


HPO:

31
premature aging syndrome, okamoto type:
Inheritance autosomal recessive inheritance


Classifications:



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 cataract and depressed nasal bridge

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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 depressed nasal bridge 31 HP:0005280
3 microcephaly 31 HP:0000252
4 osteoporosis 31 HP:0000939
5 low-set ears 31 HP:0000369
6 neoplasm 31 HP:0002664
7 diabetes mellitus 31 HP:0000819
8 osteosarcoma 31 HP:0002669
9 round face 31 HP:0000311
10 abnormality of blood and blood-forming tissues 31 HP:0001871
11 abnormality of the pinna 31 HP:0000377
12 growth abnormality 31 HP:0001507
13 abnormal hair morphology 31 HP:0001595

Symptoms via clinical synopsis from OMIM:

56
Head:
microcephaly

Ears:
low-set ears
deformed ears

Facies:
round face
flat nasal bridge

Growth:
premature aging
abnormal growth

Heme:
erythroid macrocytosis

Metabolic:
osteoporosis
diabetes mellitus

Oncology:
osteosarcoma

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. 56
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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