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Term:
hypermethioninemia due to adenosine kinase deficiency (DOID:0111038)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
hypermethioninemia +     
visual epilepsy +     
3MC syndrome 3  
Abuse Dwarfism Syndrome 
Adams Nance Syndrome 
AGAT deficiency  
Al Gazali Sabrinathan Nair Syndrome 
Alcohol Withdrawal Seizures  
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Arthrogryposis, Mental Retardation, and Seizures  
autosomal dominant non-syndromic intellectual disability 6  
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Baraitser Rodeck Garner syndrome 
Beaulieu-Boycott-Innes Syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Hypoplasia +   
Cerebellofaciodental Syndrome  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
childhood onset epileptic encephalopathy +   
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosome 13q14 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 3q29 microdeletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Cohen syndrome  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
Copper Deficiency, Familial Benign 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniosynostosis 2  
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
developmental delay and seizures with or without movement abnormalities  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
EAST syndrome  
Experimental Seizures  
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
glycine N-methyltransferase deficiency  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hyper-Beta-Alaninemia 
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hyperleucine-Isoleucinemia 
hypermethioninemia due to adenosine kinase deficiency  
A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. (DO)
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase  
Hyperphosphatemia, Polyuria, and Seizures 
Hypomagnesemia, Seizures, and Mental Retardation +   
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Seizures, and Precocious Puberty 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
Lamb-Shaffer Syndrome  
Loucks-Innes Syndrome  
Luscan-Lumish syndrome  
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Methionine Malabsorption Syndrome 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome +   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Non-Lissencephalic Cortical Dysplasia 
Obesity, Hyperphagia, and Developmental Delay  
Occipital Cortical Malformations  
Ogden syndrome  
Oliver-McFarlane syndrome  
optic atrophy 10  
Osteosclerotic Metaphyseal Dysplasia  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 
Partington Anderson Syndrome 
Partington syndrome  
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Perniola Krajewska Carnevale Syndrome 
PHGDH deficiency  
Pierpont syndrome  
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
Pseudo-TORCH Syndrome +   
Qazi Markouizos syndrome 
Rajab Syndrome  
Refsum Disease with Increased Pipecolic Acidemia 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
Roifman-Chitayat Syndrome 
Seizures, Cortical Blindness, and Microcephaly Syndrome  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Developmental Delay, and Congenital Heart Defects  
SIDDIQI SYNDROME  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Smith-Kingsmore Syndrome  
SNIJDERS BLOK-FISHER SYNDROME  
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
succinic semialdehyde dehydrogenase deficiency  
syndromic X-linked intellectual disability 5  
Ter Haar Syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Tranebjaerg Svejgaard syndrome 
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
VERVERI-BRADY SYNDROME  
WEISS-KRUSZKA SYNDROME  
White-Sutton syndrome  
X-Linked Mental Retardation Gustavson Type 

Synonyms
Exact Synonyms: ADK hypermethioninemia ;   MRT8 ;   autosomal recessive mental retardation 8 ;   hypermethioninemia encephalopathy due to ADK deficiency ;   hypermethioninemia encephalopathy due to adenosine kinase deficiency
Primary IDs: OMIM:614300
Alternate IDs: RDO:9000460
Xrefs: ICD10CM:E72.1 ;   ORDO:289290
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17120046, https://www.ncbi.nlm.nih.gov/pubmed/21963049

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.