MCID: MTH021
MIFTS: 26

Methylmalonic Acidemia with Homocystinuria malady

Rare diseases, Metabolic diseases, Blood diseases categories

Aliases & Classifications for Methylmalonic Acidemia with Homocystinuria

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Sources:
45NIH Rare Diseases, 51Orphanet, 24GTR, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Methylmalonic Acidemia with Homocystinuria:

Name: Methylmalonic Acidemia with Homocystinuria 45 51 24 65
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis 51
 
Methylmalonic Aciduria with Homocystinuria 51
Methylmalonic Acidemia and Homocystinemia 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
methylmalonic acidemia with homocystinuria:
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: All ages


External Ids:

Orphanet51 26
UMLS via Orphanet66 C1848561
ICD10 via Orphanet28 E72.1
MESH via Orphanet37 C537359

Summaries for Methylmalonic Acidemia with Homocystinuria

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MalaCards based summary: Methylmalonic Acidemia with Homocystinuria, also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, is related to methylmalonic aciduria and homocystinuria, cblf type and methylmalonic acidemia with homocystinuria, type cbld, and has symptoms including abnormality of the oral cavity, microcephaly and retinopathy. An important gene associated with Methylmalonic Acidemia with Homocystinuria is MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria). Affiliated tissues include heart, skin and kidney.

Related Diseases for Methylmalonic Acidemia with Homocystinuria

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Graphical network of diseases related to Methylmalonic Acidemia with Homocystinuria:



Diseases related to methylmalonic acidemia with homocystinuria

Symptoms for Methylmalonic Acidemia with Homocystinuria

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Symptoms:

 51 (show all 17)
  • microcephaly
  • retinopathy
  • enanthema/aphtosa/aphta/leukoplakia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • megaloblastic anemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • asthenia/fatigue/weakness
  • congenital cardiac anomaly/malformation/cardiopathy
  • hydrocephaly
  • abnormal gait
  • movement disorder
  • psychic/behavioural troubles
  • cutaneous rash

HPO human phenotypes related to Methylmalonic Acidemia with Homocystinuria:

(show all 14)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 microcephaly hallmark (90%) HP:0000252
3 retinopathy hallmark (90%) HP:0000488
4 seizures hallmark (90%) HP:0001250
5 muscular hypotonia hallmark (90%) HP:0001252
6 megaloblastic anemia hallmark (90%) HP:0001889
7 reduced consciousness/confusion hallmark (90%) HP:0004372
8 feeding difficulties in infancy hallmark (90%) HP:0008872
9 cognitive impairment hallmark (90%) HP:0100543
10 hydrocephalus typical (50%) HP:0000238
11 behavioral abnormality typical (50%) HP:0000708
12 gait disturbance typical (50%) HP:0001288
13 malformation of the heart and great vessels typical (50%) HP:0002564
14 skin rash occasional (7.5%) HP:0000988

Drugs & Therapeutics for Methylmalonic Acidemia with Homocystinuria

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Drugs for Methylmalonic Acidemia with Homocystinuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
HydroxocobalaminapprovedPhase 221713422-51-011953898, 5460373, 44475014
Synonyms:
13422-51-0
22465-48-1
78091-12-0
8017-22-9
Acti-B12
AlphaRedisol
AlphaRedisol (TN)
Axion
Axlon
Benzimidazolyl ribofuranosyl phosphate deriv.
C08230
C62H85CoN13O15P
CHEBI:27786
CHEMBL1200742
CHEMBL235822
CID11622291
CID11953898
CID5460373
CID6433575
CID6474319
Ciplamin H
Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-hydroxocobamide
Cobalex
Cobalin H
Cobinamide dihydroxide dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosylbenzimidazole inner salt
Cobinamide, Co-hydroxy-, dihydrogen phosphate (ester), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, Co-hydroxy-, f-(dihydrogen phosphate), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono (inner salt), 3'- ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Cobinamide, hydroxide, dihydrogen phosphate (ester), inner salt, 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Codroxomin
Cyanokit
Cyanokit (TN)
D01027
DB00200
Depogamma
Docclan
Docelan
Docelvita
Docevita
Droxomin
Ducobee Hy
Ducobee-Hy
Duradoce
Duralta-12
EINECS 236-533-2
HSDB 3342
HYDROXOCOBALAMIN
Hidroxocobalamina
Hidroxocobalamina [INN-Spanish]
 
Hydro Cobex
Hydrobamine
Hydrocobalamin
Hydrogrisevit
Hydrovit
Hydroxocobalamin
Hydroxocobalamin (JAN/USP/INN)
Hydroxocobalamin Vitamin B12
Hydroxocobalamin [USAN:INN:BAN:JAN]
Hydroxocobalamin acetate
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobemine
Hydroxomin
Hydroxy Cobal
Hydroxy vitamin B12
Hydroxycob(lll)alamin
Hydroxycobalamin
Hydroxycobalamine
Hyxobamine
Idrogrisevit
Idrossocobalamina
Idrossocobalamina [DCIT]
LS-54607
Lyovit-H
Neo-Betalin 12
Neo-cytamen
Neo-macrabin
Neo-rojamin
OH-Cbl
OH-Duphar
Ohb12
Oxobemin
Oxolamine (arcum)
Primabalt RP
Redisol-H
S1668_Selleck
Sytobex-H
UNII-Q40X8H422O
Vibeden
Vitadurin
Vitamin B(sub 12a)
Vitamin B-12b
Vitamin B12a
Vitamin B12b
a-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
alpha Cobione
alpha-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
vitamin B-12b
2
Cyanocobalaminapproved, nutraceuticalPhase 221768-19-944176380, 44176380, 5462245
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
 
Erycytol
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12
3Vitamin B 12Phase 2224
4Vitamin B12NutraceuticalPhase 2217
5
MethylcobalaminNutraceuticalPhase 221713422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
6
CobalaminNutraceuticalPhase 221713408-78-16438156
Synonyms:
5,6-Dimethyl-1-a-D-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-a-D-ribofuranosylbenzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosylbenzimidazole
Cob(III)alamin
Cobalamin (III)
Cobalamine
 
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
Hydroxomin
Rubivite
Rubratope-57
Rubratope-60
Ruvite
Vitamin B12

Interventional clinical trials:

idNameStatusNCT IDPhase
1EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentActive, not recruitingNCT01793090Phase 2
2Treatment of Advanced Renal Cell Carcinoma With QuinacrineWithdrawnNCT00574483Phase 2

Search NIH Clinical Center for Methylmalonic Acidemia with Homocystinuria

Genetic Tests for Methylmalonic Acidemia with Homocystinuria

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Genetic tests related to Methylmalonic Acidemia with Homocystinuria:

id Genetic test Affiliating Genes
1 Methylmalonic Acidemia with Homocystinuria24

Anatomical Context for Methylmalonic Acidemia with Homocystinuria

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MalaCards organs/tissues related to Methylmalonic Acidemia with Homocystinuria:

33
Heart, Skin, Kidney

Animal Models for Methylmalonic Acidemia with Homocystinuria or affiliated genes

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Publications for Methylmalonic Acidemia with Homocystinuria

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Articles related to Methylmalonic Acidemia with Homocystinuria:

idTitleAuthorsYear
1
Methylmalonic acidemia with homocystinuria. A very rare cause of kidney failure in the neonatal period. (25036075)
2014

Variations for Methylmalonic Acidemia with Homocystinuria

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Clinvar genetic disease variations for Methylmalonic Acidemia with Homocystinuria:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1MMACHCNM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs)duplicationPathogenicrs398124292GRCh38Chr 1, 45507545: 45507545
2MMACHCNM_015506.2(MMACHC): c.347T> C (p.Leu116Pro)single nucleotide variantPathogenicrs121918240GRCh37Chr 1, 45973954: 45973954
3MMACHCNM_015506.2(MMACHC): c.394C> T (p.Arg132Ter)single nucleotide variantPathogenicrs121918241GRCh37Chr 1, 45974001: 45974001
4MMACHCNM_015506.2(MMACHC): c.331C> T (p.Arg111Ter)single nucleotide variantPathogenicrs121918242GRCh37Chr 1, 45973938: 45973938
5MMACHCNM_015506.2(MMACHC): c.482G> A (p.Arg161Gln)single nucleotide variantPathogenicrs121918243GRCh37Chr 1, 45974520: 45974520
6MMACHCNM_015506.2(MMACHC): c.276G> T (p.Glu92Asp)single nucleotide variantPathogenicrs556977618GRCh37Chr 1, 45973222: 45973222
7MMACHCNM_015506.2(MMACHC): c.276G> A (p.Glu92=)single nucleotide variantPathogenicrs556977618GRCh37Chr 1, 45973222: 45973222
8MMACHCNM_015506.2(MMACHC): c.464G> A (p.Gly155Glu)single nucleotide variantPathogenicrs606231425GRCh37Chr 1, 45974502: 45974502
9MMACHCNM_015506.2(MMACHC): c.420G> A (p.Trp140Ter)single nucleotide variantPathogenicrs796051996GRCh37Chr 1, 45974027: 45974027
10MMACHCNM_015506.2(MMACHC): c.609G> A (p.Trp203Ter)single nucleotide variantPathogenicrs587776889GRCh37Chr 1, 45974647: 45974647
11MMACHCMMACHC, 3-BP DEL, 658AAGdeletionPathogenic

Expression for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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Search GEO for disease gene expression data for Methylmalonic Acidemia with Homocystinuria.

Pathways for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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GO Terms for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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Sources for Methylmalonic Acidemia with Homocystinuria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet