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)
..Starting node
..expandMethylmalonic Aciduria and Homocystinuria, CblF Type (C564747)

       Child Nodes:



 Sister Nodes: 
..expand2-Methylacetoacetyl CoA thiolase deficiency (C535307)
..expand2-Methylbutyryl-CoA Dehydrogenase Deficiency (C566487)
..expand3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
..expand3-Hydroxyisobutyric aciduria (C535312)
..expand5-oxoprolinase deficiency (C535322)
..expandAcidemia, isovaleric (C538167)
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..expandAdams Nance syndrome (C538224)
..expandAlaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..expandAlbinism (D000417) Child30
..expandAlkaptonuria (D000474)
..expandAlpha-ketoglutarate dehydrogenase deficiency (C536582)
..expandAmino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..expandAminoacylase 1 deficiency (C538246)
..expandArakawa syndrome 2 (C537426)
..expandArginine:Glycine Amidinotransferase Deficiency (C567192)
..expandAromatic amino acid decarboxylase deficiency (C537437)
..expandBeta ketothiolase deficiency (C535434)
..expandBeta-Aminoisobutyric Acid, Urinary Excretion of (C565904)
..expandBeta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
..expandBlue diaper syndrome (C536239)
..expandCamptodactyly taurinuria (C537972)
..expandCarboxypeptidase N Deficiency (C562876)
..expandCystathionase Deficiency (C562680)
..expandCysteine Peptiduria (C565659)
..expandDiaminopentanuria (C565630)
..expandDibasic Amino Aciduria I (C567132)
..expandDimethylglycine Dehydrogenase Deficiency (C565278)
..expandGamma aminobutyric acid transaminase deficiency (C535407)
..expandGlucoglycinuria (C562670)
..expandGlutamate Monosodium Sensitivity (C562377)
..expandGlutamine deficiency, congenital (C536832)
..expandGlutaric aciduria 1 (C536833)
..expandGlutaric Aciduria III (C562818)
..expandGlutathione synthetase deficiency (C536835)
..expandGlutathionuria (C536836)
..expandGlycine N-Methyltransferase Deficiency (C564683)
..expandGlycinuria with or without Oxalate Urolithiasis (C563009)
..expandHistidinemia (C538320)
..expandHomocarnosinosis (C535328)
..expandHydroxykynureninuria (C536081)
..expandHydroxyprolinemia (C562669)
..expandHyperglycinemia, Nonketotic (D020158) Child1
..expandHYPERGLYCINURIA (OMIM:138500)
..expandHyperhomocysteinemia (D020138) Child8
..expandHyperleucine-Isoleucinemia (C562674)
..expandHyperlysinemias (D020167) Child3
..expandHypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase (C566700)
..expandHyperprolinemia (C538384)
..expandHyperprolinemia type 2 (C538385)
..expandHypertaurinuric Cardiomyopathy (C564157)
..expandHypertryptophanemia (C538393)
..expandHypertryptophanemia, Familial (C563467)
..expandIchthyosis, Split Hairs, and Amino Aciduria (C565471)
..expandIndolylacroyl Glycinuria with Mental Retardation (C565466)
..expandIsobutyryl-CoA dehydrogenase deficiency (C535541)
..expandKetoadipicaciduria (C565453)
..expandLysine Malabsorption Syndrome (C563080)
..expandLysinuric Protein Intolerance (C562687)
..expandMaple Syrup Urine Disease (D008375) Child5
..expandMercaptolactate-Cysteine Disulfiduria (C563085)
..expandMethionine Adenosyltransferase Deficiency (C562681)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMethylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..expandMethylmalonic acidemia (C537358) Child1
..expandMethylmalonic acidemia with homocystinuria (C537359)
..expandMethylmalonic Aciduria and Homocystinuria, CblD Type (C564743)
..expandMethylmalonic Aciduria and Homocystinuria, CblF Type (C564747)
..expandMethylmalonic aciduria cblA type (C537360)
..expandMethylmalonic aciduria cblB type (C537361)
..expandMethylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency (C565390)
..expandMethylmalonyl-CoA Epimerase Deficiency (C565386)
..expandMethylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency (C565387)
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1
..expandMultiple Carboxylase Deficiency (D009100) Child4
..expandMyopathy due to Malate-Aspartate Shuttle Defect (C564973)
..expandPhenylketonurias (D010661) Child8
..expandProlidase Deficiency (D056732)
..expandPropionic Acidemia (D056693) Child1
..expandRichards-Rundle syndrome (C535674)
..expandSarcosinemia (C537236)
..expandsuccinic semialdehyde dehydrogenase deficiency (C535803)
..expandSulfite oxidase deficiency (C538141)
..expandTiglic acidemia (C536921)
..expandTryptophanuria With Dwarfism (C562658)
..expandTyrosinemias (D020176) Child1
..expandTyrosinosis (C562659)
..expandUrea Cycle Disorders, Inborn (D056806) Child16
..expandUrocanase deficiency (C536479)
..expandValinemia (C536524)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7151
Name:Methylmalonic Aciduria and Homocystinuria, CblF Type
Definition:
Alternative IDs:OMIM:277380
ParentIDs:MESH:D000592
TreeNumbers:C16.320.565.100/C564747 |C18.452.648.100/C564747
Synonyms:cblF |Cobalamin, Defect in Lysosomal Release of |Cobalamin F Disease |Methylmalonic Acidemia and Homocystinuria, CblF Type |Methylmalonic Aciduria due to Vitamin B12-Release Defect |Vitamin B12 Lysosomal Release Defect |Vitamin B12 Storage Disease
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C564747
MeSH: C564747
OMIM: 277380;

Genes: LMBRD1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0003286Cystathioninemia
4 HP:0003153Cystathioninuria
5 HP:0003145Decreased adenosylcobalamin
6 HP:0003524Decreased methionine synthase activity
7 HP:0003223Decreased methylcobalamin
8 HP:0000286Epicanthus
9 HP:0001508Failure to thrive
10 HP:0008872Feeding difficulties in infancy
11 HP:0001290Generalized hypotonia
12 HP:0001263Global developmental delay
13 HP:0000206Glossitis
14 HP:0000218High palate
15 HP:0002156Homocystinuria
16 HP:0002160Hyperhomocystinemia
17 HP:0001252Hypotonia
18 HP:0002311Incoordination
19 HP:0001254Lethargy
20 HP:0000369Low-set ears
21 HP:0001889Megaloblastic anemia
22 HP:0002912Methylmalonic acidemia
23 HP:0012120Methylmalonic aciduria
24 HP:0008551Microtia
25 HP:0001875Neutropenia
26 HP:0001876Pancytopenia
27 HP:0000988Skin rash
28 HP:0010280Stomatitis
29 HP:0000219Thin upper lip vermilion
30 HP:0001873Thrombocytopenia
Disease Causing ClinVar Variants