Premature Aging Syndrome, Okamoto Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 ²⁰

Premature Aging Okamoto Type ²⁰

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
? autosomal recessive

HPO:

³¹

premature aging syndrome, okamoto type:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

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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 diabetes mellitus and cataract

More information from OMIM: 601811

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Related Diseases for Premature Aging Syndrome, Okamoto Type

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Symptoms & Phenotypes for Premature Aging Syndrome, Okamoto Type

Human phenotypes related to Premature Aging Syndrome, Okamoto Type:

³¹ (show all 13)

#	Description	HPO Source Accession
1	diabetes mellitus ³¹	HP:0000819
2	cataract ³¹	HP:0000518
3	depressed nasal bridge ³¹	HP:0005280
4	microcephaly ³¹	HP:0000252
5	osteoporosis ³¹	HP:0000939
6	low-set ears ³¹	HP:0000369
7	neoplasm ³¹	HP:0002664
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®:

⁵⁷ (Updated 05-Apr-2021)

Metabolic:
diabetes mellitus
osteoporosis

Ears:
low-set ears
deformed ears

Facies:
round face
flat nasal bridge

Growth:
premature aging
abnormal growth

Heme:
erythroid macrocytosis

Head:
microcephaly

Oncology:
osteosarcoma

Eyes:
cataracts

Neuro:
abnormal development

Hair:
poor hair growth

Clinical features from OMIM®:

601811 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Premature Aging Syndrome, Okamoto Type

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

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Genetic Tests for Premature Aging Syndrome, Okamoto Type

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Anatomical Context for Premature Aging Syndrome, Okamoto Type

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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. ⁵⁷	Okamoto N...Goto M	9056555	1997

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Genes for Premature Aging Syndrome, Okamoto Type

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Variations for Premature Aging Syndrome, Okamoto Type

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Expression for Premature Aging Syndrome, Okamoto Type

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Pathways for Premature Aging Syndrome, Okamoto Type

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GO Terms for Premature Aging Syndrome, Okamoto Type

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Premature Aging Syndrome, Okamoto Type

Aliases & Classifications for Premature Aging Syndrome, Okamoto Type

MalaCards integrated aliases for Premature Aging Syndrome, Okamoto Type:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Premature Aging Syndrome, Okamoto Type

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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Genes for Premature Aging Syndrome, Okamoto Type

Variations for Premature Aging Syndrome, Okamoto Type

Expression for Premature Aging Syndrome, Okamoto Type

Pathways for Premature Aging Syndrome, Okamoto Type

GO Terms for Premature Aging Syndrome, Okamoto Type

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