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MCID: PTT016
MIFTS: 24
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Patterson Pseudoleprechaunism Syndrome
Categories:
Endocrine diseases, Rare diseases
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MalaCards integrated aliases for Patterson Pseudoleprechaunism Syndrome:
Characteristics:Inheritance:
Isolated cases 57
Prevelance:
Pseudoleprechaunism Syndrome, Patterson Type:
<1/1000000 (Worldwide) 58
Age Of Onset:
Pseudoleprechaunism Syndrome, Patterson Type:
Antenatal,Neonatal 58
Classifications:
ICD10:
32
Orphanet: 58
Rare endocrine diseases |
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GARD: 19 Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. MalaCards based summary: Patterson Pseudoleprechaunism Syndrome, also known as patterson syndrome, is related to tylosis with esophageal cancer and jawad syndrome, and has symptoms including seizures Affiliated tissues include bone, and related phenotypes are diabetes mellitus and delayed skeletal maturation Orphanet: 58 Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. Wikipedia: 75 Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as... more...
More information from OMIM:
169170
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Diseases related to Patterson Pseudoleprechaunism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(showing 11, show less)
Graphical network of the top 20 diseases related to Patterson Pseudoleprechaunism Syndrome:
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Human phenotypes related to Patterson Pseudoleprechaunism Syndrome:58 30 (showing 44, show less)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:169170 (Updated 08-Dec-2022)UMLS symptoms related to Patterson Pseudoleprechaunism Syndrome:seizures |
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Organs/tissues related to Patterson Pseudoleprechaunism Syndrome:
MalaCards :
Bone
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Articles related to Patterson Pseudoleprechaunism Syndrome:(showing 6, show less)
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Search
GEO
for disease gene expression data for Patterson Pseudoleprechaunism Syndrome.
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