MCID: PRM291
MIFTS: 13

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 58
Premature Aging Syndrome with Osteosarcoma Cataracts Diabetes Osteoporosis Erythroid Macrocytosis Severe Developmental Delay 54
Premature Aging Okamoto Type 54

Characteristics:

OMIM:

58
Inheritance:
? autosomal recessive


HPO:

33
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. Affiliated tissues include bone, and related phenotypes are low-set ears and diabetes mellitus

Description 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:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 diabetes mellitus 33 HP:0000819
3 cataract 33 HP:0000518
4 depressed nasal bridge 33 HP:0005280
5 microcephaly 33 HP:0000252
6 osteoporosis 33 HP:0000939
7 neoplasm 33 HP:0002664
8 abnormality of the pinna 33 HP:0000377
9 round face 33 HP:0000311
10 osteosarcoma 33 HP:0002669
11 abnormality of blood and blood-forming tissues 33 HP:0001871
12 growth abnormality 33 HP:0001507
13 abnormal hair morphology 33 HP:0001595

Symptoms via clinical synopsis from OMIM:

58
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

MalaCards organs/tissues related to Premature Aging Syndrome, Okamoto Type:

42
Bone

Publications for Premature Aging Syndrome, Okamoto Type

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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