MORMS
MCID: MNT318
MIFTS: 35
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Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome (MORMS)
Categories:
Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare 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:
Characteristics:Inheritance:
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:
Autosomal recessive 57
Morm Syndrome:
Autosomal recessive 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Endocrine diseases Mental diseases
Orphanet: 58
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UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by moderate intellectual disability, 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 bardet-biedl syndrome 1 and joubert syndrome 1, 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). The drugs Lidocaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skin, and related phenotypes are delayed speech and language development and visual impairment GARD: 19 A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. Orphanet: 58 A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. Wikipedia: 75 MORM syndrome is an autosomal recessive congenital disorder characterized by mental retardation, truncal... more...
More information from OMIM:
610156
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Human phenotypes related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:58 30 (show all 20)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:610156 (Updated 08-Dec-2022)UMLS symptoms related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:pelvic pain |
Drugs for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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Organs/tissues related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:
MalaCards :
Eye,
Retina,
Skin,
Kidney
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Articles related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:
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ClinVar genetic disease variations for Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome:5
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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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