Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAmino Acid Metabolism, Inborn Errors (D000592)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandRespiration Disorders (D012120)
Parent Node:
expandSeizures (D012640)
..Starting node
..expandMethionine Malabsorption Syndrome (C562682)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDysmyelination With Jaundice (C565610)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..expandHyper-Beta-Alaninemia (C562684)
..expandHyperleucine-Isoleucinemia (C562674)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMuller Barth Menger syndrome (C537370)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSeSAME syndrome (C557674)
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWarman Mulliken Hayward syndrome (C536684)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7144
Name:Methionine Malabsorption Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000592|MESH:D008607|MESH:D012120|MESH:D012640
TreeNumbers:C08.618/C562682 |C10.228.140.490.631/C562682 |C10.597.606.643/C562682 |C10.597.742/C562682 |C16.320.565.100/C562682 |C18.452.648.100/C562682 |C23.888.592.604.646/C562682 |C23.888.592.742/C562682 |F03.550.600/C562682
Synonyms:Oasthouse Urine Disease |Smith-Strang Disease
Slim Mappings:Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Respiratory tract disease|Signs and symptoms
Reference: MedGen: C562682
MeSH: C562682
OMIM: 250900;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003355Aminoaciduria
3 HP:0000635Blue irides
4 HP:0002014Diarrhea
5 HP:0001249Intellectual disability
6 HP:0003612Positive ferric chloride test
7 HP:0001250Seizure
8 HP:0002789Tachypnea
9 HP:0011364White hair
Disease Causing ClinVar Variants