MRT59
MCID: MNT281
MIFTS: 20
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Mental Retardation, Autosomal Recessive 59 (MRT59)
Categories:
Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 59:Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
one consanguineous brazilian family has been reported (last curated january 2017) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases Anatomical: Mental diseases Neuronal diseases Eye diseases Bone diseases Cardiovascular diseases Skin diseases Ear diseases Gastrointestinal diseases |
UniProtKB/Swiss-Prot
:
75
Mental retardation, autosomal recessive 59: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT59 transmission pattern is consistent with autosomal recessive inheritance.
MalaCards based summary : Mental Retardation, Autosomal Recessive 59, is also known as mrt59. An important gene associated with Mental Retardation, Autosomal Recessive 59 is IMPA1 (Inositol Monophosphatase 1). Affiliated tissues include skin, bone and eye, and related phenotypes are intellectual disability and paranoia
Description from OMIM:
617323
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617323Human phenotypes related to Mental Retardation, Autosomal Recessive 59:32
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MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 59:41
Skin,
Bone,
Eye
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ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 59:6
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Search
GEO
for disease gene expression data for Mental Retardation, Autosomal Recessive 59.
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