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MCID: MNT318
MIFTS: 25
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Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome
Categories:
Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Metabolic diseases, Mental diseases
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Aliases & Classifications for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and...
MalaCards integrated aliases for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:
Name: Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome
57
Characteristics:Orphanet epidemiological data:59
morm syndrome
Inheritance: Autosomal recessive; HPO:32
mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Eye diseases Endocrine diseases Neuronal diseases Mental diseases |
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UniProtKB/Swiss-Prot
:
75
Mental retardation, truncal obesity, retinal dystrophy, and micropenis: An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies.
MalaCards based summary : Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome, also known as morm syndrome, is related to penile disease and retinitis, and has symptoms including pelvic pain An important gene associated with Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome is INPP5E (Inositol Polyphosphate-5-Phosphatase E). Affiliated tissues include skin, retina and eye, and related phenotypes are micropenis and visual impairment Wikipedia : 76 MORM syndrome is an autosomal recessive congenital disorder This means that the disorder is present from... more...
Description from OMIM:
610156
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Diseases related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:610156Human phenotypes related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:32 (show all 8)
UMLS symptoms related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:pelvic pain |
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Cochrane evidence based reviews: penile diseases |
MalaCards organs/tissues related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:41
Skin,
Retina,
Eye
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Articles related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:
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Genes related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:6
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Search
GEO
for disease gene expression data for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome.
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