MCID: MTH021
MIFTS: 31

Methylmalonic Acidemia with Homocystinuria malady

Categories: Rare diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Methylmalonic Acidemia with Homocystinuria

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Sources:
25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Methylmalonic Acidemia with Homocystinuria:

Name: Methylmalonic Acidemia with Homocystinuria 48 25 54
Methylmalonic Acidemia and Homocystinuria 25 27
Methylmalonic Acidemia and Homocystinemia 48 25
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase 25
 
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Methionine Synthase Activities 25
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis 54
Methylmalonic Aciduria with Homocystinuria 54
Methylmalonic Aciduria and Homocystinuria 25

Characteristics:

Orphanet epidemiological data:

54
methylmalonic acidemia with homocystinuria:
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: All ages

Classifications:



External Ids:

Orphanet54 ORPHA26
MESH via Orphanet40 C537359
UMLS via Orphanet69 C1848561
ICD10 via Orphanet31 E71.1

Summaries for Methylmalonic Acidemia with Homocystinuria

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NIH Rare Diseases:48 Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process certain nutrients from food including amino acids, lipids and cholesterol. People with this disorder have a combination of features from two separate conditions: methylmalonic acidemia and homocystinuria. When the condition begins early in life, babies have difficulty gaining weight (failure to thrive), feeding difficulties, and a pale appearance. Babies may also have weak muscle tone (hypotonia) and seizures. Most babies and children with this condition have an unusually small head size (microcephaly), intellectual disability and developmental delay. Less common features of the condition include eye problems and a blood disorder called megaloblastic anemia. When the disorder begins in adolescence or adulthood, the signs and symptoms usually include behavior and personality changes and cognitive problems (issues with learning, memory, perception etc). In some cases, abilities are lost, resulting in a decline of performance, memory and speech problems, dementia and lethargy.[12470 Methylmalonic acidemia with homocystinuria can be caused by mutations in one of several genes: MMACHC, MMADHC, LMBRD1, ABCD4, or HCFC1. Mutations in these genes account for the different types of the disorder, cblC, cblD, cblF, cblJ, and cblX, respectively. Although there is no cure for this conditions, treatment may include intramuscular injections of hydroxycobalamin, oral betaine, and folic acid.  Last updated: 10/31/2016

MalaCards based summary: Methylmalonic Acidemia with Homocystinuria, also known as methylmalonic acidemia and homocystinuria, is related to methylmalonic acidemia with homocystinuria type cbld and methylmalonic acidemia with homocystinuria type cblj, 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 skin, bone marrow and heart.

Genetics Home Reference:25 Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol. Individuals with this disorder have a combination of features from two separate conditions, methylmalonic acidemia and homocystinuria. The signs and symptoms of the combined condition, methylmalonic acidemia with homocystinuria, usually develop in infancy, although they can begin at any age.

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 & Phenotypes for Methylmalonic Acidemia with Homocystinuria

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Human phenotypes related to Methylmalonic Acidemia with Homocystinuria:

 64 54 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the oral cavity64 hallmark (90%) HP:0000163
2 microcephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000252
3 retinopathy64 54 hallmark (90%) Very frequent (99-80%) HP:0000488
4 seizures64 54 hallmark (90%) Very frequent (99-80%) HP:0001250
5 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
6 megaloblastic anemia64 hallmark (90%) HP:0001889
7 reduced consciousness/confusion64 hallmark (90%) HP:0004372
8 feeding difficulties in infancy64 hallmark (90%) HP:0008872
9 cognitive impairment64 hallmark (90%) HP:0100543
10 hydrocephalus64 54 typical (50%) Frequent (79-30%) HP:0000238
11 behavioral abnormality64 54 typical (50%) Frequent (79-30%) HP:0000708
12 gait disturbance64 54 typical (50%) Frequent (79-30%) HP:0001288
13 skin rash64 54 occasional (7.5%) Occasional (29-5%) HP:0000988
14 lethargy54 Very frequent (99-80%)
15 global developmental delay54 Very frequent (99-80%)
16 intellectual disability54 Very frequent (99-80%)
17 failure to thrive54 Very frequent (99-80%)
18 megaloblastic bone marrow54 Very frequent (99-80%)
19 malformation of the heart and great vessels54 Frequent (79-30%)
20 feeding difficulties54 Very frequent (99-80%)
21 fatigue54 Very frequent (99-80%)
22 abnormality of movement54 Frequent (79-30%)

UMLS symptoms related to Methylmalonic Acidemia with Homocystinuria:


lethargy, seizures

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 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
HydroxocobalaminapprovedPhase 224813422-51-011953898, 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 anhydrous
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobalaminum anhydrous
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
Folic Acidapproved, nutraceutical, vet_approvedPhase 2427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
3
Cyanocobalaminapproved, nutraceuticalPhase 224968-19-944176380
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 (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
4Trace ElementsPhase 25802
5MicronutrientsPhase 25802
6UbiquinonePhase 2139
7AntioxidantsPhase 22928
8HematinicsPhase 21630
9Vitamin B ComplexPhase 24229
10Vitamin B 12Phase 2249
11VitaminsPhase 25095
12Vitamin B12NutraceuticalPhase 2249
13Vitamin B9NutraceuticalPhase 24279
14
Methylcobalaminexperimental, NutraceuticalPhase 224813422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Co-methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
mecobalamin
methyl(III)cobalamin
15
CobalaminNutraceuticalPhase 224913408-78-16438156
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
16FolateNutraceuticalPhase 24279

Interventional clinical trials:

idNameStatusNCT IDPhase
1EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentUnknown statusNCT01793090Phase 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 Homocystinuria27

Anatomical Context for Methylmalonic Acidemia with Homocystinuria

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MalaCards organs/tissues related to Methylmalonic Acidemia with Homocystinuria:

36
Skin, Bone marrow, Heart, Bone, Kidney

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 15)
id Gene Variation Type Significance SNP ID Assembly Location
1MMACHCNM_015506.2(MMACHC): c.347T> C (p.Leu116Pro)SNVPathogenicrs121918240GRCh37Chr 1, 45973954: 45973954
2MMACHCNM_015506.2(MMACHC): c.394C> T (p.Arg132Ter)SNVPathogenicrs121918241GRCh37Chr 1, 45974001: 45974001
3MMACHCNM_015506.2(MMACHC): c.331C> T (p.Arg111Ter)SNVPathogenicrs121918242GRCh37Chr 1, 45973938: 45973938
4MMACHCNM_015506.2(MMACHC): c.276G> T (p.Glu92Asp)SNVPathogenicrs556977618GRCh37Chr 1, 45973222: 45973222
5MMACHCNM_015506.2(MMACHC): c.276G> A (p.Glu92=)SNVPathogenicrs556977618GRCh37Chr 1, 45973222: 45973222
6MMACHCNM_015506.2(MMACHC): c.464G> A (p.Gly155Glu)SNVPathogenicrs606231425GRCh37Chr 1, 45974502: 45974502
7MMACHCNM_015506.2(MMACHC): c.420G> A (p.Trp140Ter)SNVPathogenicrs796051996GRCh37Chr 1, 45974027: 45974027
8MMACHCNM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs)duplication, CompoundHeterozygotePathogenicrs398124292GRCh38Chr 1, 45507545: 45507545
9MMACHCNM_015506.2(MMACHC): c.615C> G (p.Tyr205Ter)SNVPathogenicrs747527726GRCh37Chr 1, 45974653: 45974653
10MMACHCNM_015506.2(MMACHC): c.609G> A (p.Trp203Ter)SNVPathogenicrs587776889GRCh37Chr 1, 45974647: 45974647
11MMACHCMMACHC, 3-BP DEL, 658AAGdeletionPathogenicChr na, -1: -1
12MMACHCNM_015506.2(MMACHC): c.481C> T (p.Arg161Ter)SNVPathogenicrs370596113GRCh37Chr 1, 45974519: 45974519
13MMACHCNM_015506.2(MMACHC): c.547_548delGT (p.Val183Thrfs)deletionPathogenicrs398124293GRCh37Chr 1, 45974585: 45974586
14MMACHCNM_015506.2(MMACHC): c.608G> A (p.Trp203Ter)SNVPathogenicrs398124295GRCh37Chr 1, 45974646: 45974646
15MMACHCNM_015506.2(MMACHC): c.658_660delAAG (p.Lys220del)deletionPathogenicrs398124296GRCh37Chr 1, 45974696: 45974698

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet