Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PLY062 MIFTS: 36	Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Categories: Genetic diseases, Rare diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

MalaCards integrated aliases for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

Name: Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy ⁵⁷ ³⁷ ²⁹ ¹³ ⁶ ⁴⁰ ⁷³

Pmse Syndrome ⁵⁷ ⁵³ ⁵⁹

Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Syndrome ⁵³

Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome ⁵⁹

Pretzel Syndrome ⁵³

Pmse ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
death in childhood may occur
onset of seizures in first months of life
developmental stagnation after seizure onset
increased frequency among the amish

HPO:

³²

polyhydramnios, megalencephaly, and symptomatic epilepsy:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 611087

Orphanet ⁵⁹ ORPHA500533

MedGen ⁴² C1970203

KEGG ³⁷ H01112

SNOMED-CT via HPO ⁶⁹ 258211005 48638002 40159009 more

UMLS ⁷³ C1970203

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Summaries for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

NIH Rare Diseases : ⁵³ Polyhydramnios, megalencephaly, and symptomatic epilepsysyndrome (PMSE syndrome) is characterized by excessive accumulation of amniotic fluid that surrounds the baby in the uterus during pregnancy (polyhydramnios), abnormally large, heavy, and usually malfunctioning brain (megalencephaly), seizures and intellectual disability. Some patients also have heart problems, diabetes insipidus, kidney problems and leukemia. It is caused by a mutation in the LYK5 gene. Seizures are difficult to treat and there is ongoing research for more effective medication.

MalaCards based summary : Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy, also known as pmse syndrome, is related to polyhydramnios and megalencephaly. An important gene associated with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy is STRADA (STE20-Related Kinase Adaptor Alpha), and among its related pathways/superpathways are mTOR signaling pathway and mTOR signaling pathway (KEGG). Affiliated tissues include brain, kidney and heart, and related phenotypes are macrocephaly and hypertelorism

Description from OMIM: 611087

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Related Diseases for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Diseases related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	polyhydramnios	29.2	STK11 STRADA
2	megalencephaly	28.8	STK11 STRADA
3	epilepsy	10.2

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Symptoms & Phenotypes for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Head:
macrocephaly

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Mouth:
open mouth
thick lips
enlarged mouth

Head And Neck Face:
long face
large forehead
overgrowth of the mandible
hypotonic facies

Muscle Soft Tissue:
hypotonia
skeletal muscle hypoplasia

Genitourinary Kidneys:
nephrocalcinosis (in some patients)

Skeletal:
joint laxity (1 patient)

Head And Neck Eyes:
hypertelorism
strabismus
peaked eyebrows

Neurologic Central Nervous System:
inability to walk
ventriculomegaly
difficulty walking
astrocytosis
mental retardation
more

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Nose:
broad nasal bridge

Growth Weight:
thin body habitus

Cardiovascular Heart:
atrial septal defects (in some patients)

Endocrine Features:
diabetes insipidus (in some patients)

Clinical features from OMIM:

611087

Human phenotypes related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

³² (show all 29)

#	Description	HPO Frequency	HPO Source Accession
1	macrocephaly ³²	very rare (1%)	HP:0000256
2	hypertelorism ³²	very rare (1%)	HP:0000316
3	intellectual disability ³²		HP:0001249
4	seizures ³²		HP:0001250
5	muscular hypotonia ³²	very rare (1%)	HP:0001252
6	megalencephaly ³²		HP:0001355
7	global developmental delay ³²		HP:0001263
8	wide nasal bridge ³²	very rare (1%)	HP:0000431
9	feeding difficulties ³²		HP:0011968
10	thick lower lip vermilion ³²	very rare (1%)	HP:0000179
11	strabismus ³²		HP:0000486
12	atrial septal defect ³²	very rare (1%)	HP:0001631
13	inability to walk ³²		HP:0002540
14	ventriculomegaly ³²		HP:0002119
15	wide mouth ³²	very rare (1%)	HP:0000154
16	diabetes insipidus ³²	very rare (1%)	HP:0000873
17	open mouth ³²		HP:0000194
18	joint laxity ³²	occasional (7.5%)	HP:0001388
19	polyhydramnios ³²	very rare (1%)	HP:0001561
20	long face ³²	very rare (1%)	HP:0000276
21	nephrocalcinosis ³²	very rare (1%)	HP:0000121
22	large forehead ³²	very rare (1%)	HP:0002003
23	difficulty walking ³²		HP:0002355
24	thick upper lip vermilion ³²	very rare (1%)	HP:0000215
25	astrocytosis ³²		HP:0002446
26	premature birth ³²	very rare (1%)	HP:0001622
27	generalized hypotonia ³²		HP:0001290
28	facial hypotonia ³²		HP:0000297
29	hyperplasia of midface ³²	very rare (1%)	HP:0012371

GenomeRNAi Phenotypes related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased substrate adherent cell growth	GR00193-A-1	9.23	STK11 STRADA
2	Decreased substrate adherent cell growth	GR00193-A-3	9.23	STK11 STRADA
3	Decreased human cytomegalovirus (HCMV) strain AD169 replication	GR00248-A	8.96	STK11 STRADA

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Drugs & Therapeutics for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Search Clinical Trials , NIH Clinical Center for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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Genetic Tests for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Genetic tests related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

#	Genetic test	Affiliating Genes
1	Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy ²⁹	STRADA

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Anatomical Context for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

MalaCards organs/tissues related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

⁴¹

Brain, Kidney, Heart, Uterus, Skeletal Muscle

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Publications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Articles related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

#	Title	Authors	Year
1	Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). ( 27170158 )	Bi W....Sun A.	2016
2	Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. ( 17522105 )	Puffenberger E.G....Morton D.H.	2007

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Genes for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Genes related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	STRADA	STE20-Related Kinase Adaptor Alpha	Protein Coding	1400.8	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	17522105 20424326 27170158
2	STK11	Serine/Threonine Kinase 11	Protein Coding	17.75	GeneCards inferred via : Publications (show sections)

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Variations for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

ClinVar genetic disease variations for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

⁶

(show top 50) (show all 53)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	STRADA	STRADA, 7-KB DEL	deletion	Pathogenic
2	STRADA	NM_001003787.2(STRADA): c.135G> A (p.Ala45=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56163554	GRCh37	Chromosome 17, 61791457: 61791457
3	STRADA	NM_001003787.2(STRADA): c.135G> A (p.Ala45=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56163554	GRCh38	Chromosome 17, 63714097: 63714097
4	STRADA	NM_001003787.2(STRADA): c.842dupA (p.Asp281Glufs)	duplication	Pathogenic	rs886037929	GRCh37	Chromosome 17, 61784011: 61784011
5	STRADA	NM_001003787.2(STRADA): c.842dupA (p.Asp281Glufs)	duplication	Pathogenic	rs886037929	GRCh38	Chromosome 17, 63706651: 63706651
6	STRADA	NM_001003787.2(STRADA): c.368A> G (p.Lys123Arg)	single nucleotide variant	Uncertain significance	rs1045863605	GRCh38	Chromosome 17, 63710817: 63710817
7	STRADA	NM_001003787.2(STRADA): c.368A> G (p.Lys123Arg)	single nucleotide variant	Uncertain significance	rs1045863605	GRCh37	Chromosome 17, 61788177: 61788177
8	STRADA	NM_001003787.2(STRADA): c.947G> A (p.Arg316His)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 17, 61781854: 61781854
9	STRADA	NM_001003787.2(STRADA): c.947G> A (p.Arg316His)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 17, 63704494: 63704494
10	STRADA	NM_001003787.2(STRADA): c.744C> T (p.Val248=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 17, 61784616: 61784616
11	STRADA	NM_001003787.2(STRADA): c.744C> T (p.Val248=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 17, 63707256: 63707256
12	STRADA	NM_001003787.2(STRADA): c.296T> C (p.Val99Ala)	single nucleotide variant	Uncertain significance	rs555623031	GRCh37	Chromosome 17, 61790818: 61790818
13	STRADA	NM_001003787.2(STRADA): c.296T> C (p.Val99Ala)	single nucleotide variant	Uncertain significance	rs555623031	GRCh38	Chromosome 17, 63713458: 63713458
14	STRADA	NM_001003787.2(STRADA): c.582-6C> T	single nucleotide variant	Likely benign	rs369276577	GRCh38	Chromosome 17, 63707424: 63707424
15	STRADA	NM_001003787.2(STRADA): c.582-6C> T	single nucleotide variant	Likely benign	rs369276577	GRCh37	Chromosome 17, 61784784: 61784784
16	STRADA	NM_001003787.2(STRADA): c.922G> A (p.Glu308Lys)	single nucleotide variant	Uncertain significance	rs372229032	GRCh38	Chromosome 17, 63704519: 63704519
17	STRADA	NM_001003787.2(STRADA): c.922G> A (p.Glu308Lys)	single nucleotide variant	Uncertain significance	rs372229032	GRCh37	Chromosome 17, 61781879: 61781879
18	STRADA	NM_001003787.2(STRADA): c.736C> T (p.Pro246Ser)	single nucleotide variant	Uncertain significance	rs201773578	GRCh38	Chromosome 17, 63707264: 63707264
19	STRADA	NM_001003787.2(STRADA): c.736C> T (p.Pro246Ser)	single nucleotide variant	Uncertain significance	rs201773578	GRCh37	Chromosome 17, 61784624: 61784624
20	STRADA	NM_001003787.2(STRADA): c.581+4C> T	single nucleotide variant	Uncertain significance	rs764367131	GRCh37	Chromosome 17, 61787847: 61787847
21	STRADA	NM_001003787.2(STRADA): c.581+4C> T	single nucleotide variant	Uncertain significance	rs764367131	GRCh38	Chromosome 17, 63710487: 63710487
22	STRADA	NM_001003787.2(STRADA): c.508C> G (p.Leu170Val)	single nucleotide variant	Benign	rs61734984	GRCh37	Chromosome 17, 61787924: 61787924
23	STRADA	NM_001003787.2(STRADA): c.508C> G (p.Leu170Val)	single nucleotide variant	Benign	rs61734984	GRCh38	Chromosome 17, 63710564: 63710564
24	STRADA	NM_153335.5(STRADA): c.-18C> T	single nucleotide variant	Benign	rs4968597	GRCh37	Chromosome 17, 61805747: 61805747
25	STRADA	NM_153335.5(STRADA): c.-18C> T	single nucleotide variant	Benign	rs4968597	GRCh38	Chromosome 17, 63728387: 63728387
26	STRADA	NC_000017.11: g.(?_63726618)_(63728389_?)dup	duplication	Uncertain significance		GRCh37	Chromosome 17, 61803978: 61805749
27	STRADA	NC_000017.11: g.(?_63726618)_(63728389_?)dup	duplication	Uncertain significance		GRCh38	Chromosome 17, 63726618: 63728389
28	STRADA	NM_001003787.2(STRADA): c.32T> G (p.Ile11Ser)	single nucleotide variant	Uncertain significance	rs377651050	GRCh37	Chromosome 17, 61805698: 61805698
29	STRADA	NM_001003787.2(STRADA): c.32T> G (p.Ile11Ser)	single nucleotide variant	Uncertain significance	rs377651050	GRCh38	Chromosome 17, 63728338: 63728338
30	STRADA	NM_001003787.2(STRADA): c.1184G> A (p.Arg395His)	single nucleotide variant	Uncertain significance	rs150880597	GRCh37	Chromosome 17, 61781071: 61781071
31	STRADA	NM_001003787.2(STRADA): c.1184G> A (p.Arg395His)	single nucleotide variant	Uncertain significance	rs150880597	GRCh38	Chromosome 17, 63703711: 63703711
32	STRADA	NM_001003787.2(STRADA): c.992C> T (p.Thr331Ile)	single nucleotide variant	Uncertain significance	rs539671529	GRCh37	Chromosome 17, 61781809: 61781809
33	STRADA	NM_001003787.2(STRADA): c.992C> T (p.Thr331Ile)	single nucleotide variant	Uncertain significance	rs539671529	GRCh38	Chromosome 17, 63704449: 63704449
34	STRADA	NM_001003787.2(STRADA): c.1154G> A (p.Arg385His)	single nucleotide variant	Uncertain significance	rs751571199	GRCh38	Chromosome 17, 63703741: 63703741
35	STRADA	NM_001003787.2(STRADA): c.1154G> A (p.Arg385His)	single nucleotide variant	Uncertain significance	rs751571199	GRCh37	Chromosome 17, 61781101: 61781101
36	STRADA	NM_001003787.2(STRADA): c.1036C> T (p.Arg346Ter)	single nucleotide variant	Pathogenic	rs748855607	GRCh38	Chromosome 17, 63704405: 63704405
37	STRADA	NM_001003787.2(STRADA): c.1036C> T (p.Arg346Ter)	single nucleotide variant	Pathogenic	rs748855607	GRCh37	Chromosome 17, 61781765: 61781765
38	STRADA	NM_001003787.2(STRADA): c.619G> C (p.Gly207Arg)	single nucleotide variant	Uncertain significance	rs745739301	GRCh38	Chromosome 17, 63707381: 63707381
39	STRADA	NM_001003787.2(STRADA): c.619G> C (p.Gly207Arg)	single nucleotide variant	Uncertain significance	rs745739301	GRCh37	Chromosome 17, 61784741: 61784741
40	STRADA	NM_001003787.2(STRADA): c.482C> T (p.Thr161Ile)	single nucleotide variant	Likely benign	rs61734987	GRCh38	Chromosome 17, 63710590: 63710590
41	STRADA	NM_001003787.2(STRADA): c.482C> T (p.Thr161Ile)	single nucleotide variant	Likely benign	rs61734987	GRCh37	Chromosome 17, 61787950: 61787950
42	STRADA	NM_001003787.2(STRADA): c.37C> T (p.Arg13Trp)	single nucleotide variant	Uncertain significance	rs35808156	GRCh38	Chromosome 17, 63726695: 63726695
43	STRADA	NM_001003787.2(STRADA): c.37C> T (p.Arg13Trp)	single nucleotide variant	Uncertain significance	rs35808156	GRCh37	Chromosome 17, 61804055: 61804055
44	STRADA	NM_001003787.2(STRADA): c.535G> T (p.Val179Leu)	single nucleotide variant	Uncertain significance	rs777475313	GRCh38	Chromosome 17, 63710537: 63710537
45	STRADA	NM_001003787.2(STRADA): c.535G> T (p.Val179Leu)	single nucleotide variant	Uncertain significance	rs777475313	GRCh37	Chromosome 17, 61787897: 61787897
46	STRADA	NM_001003787.2(STRADA): c.390C> T (p.Ile130=)	single nucleotide variant	Likely benign	rs764868771	GRCh38	Chromosome 17, 63710795: 63710795
47	STRADA	NM_001003787.2(STRADA): c.390C> T (p.Ile130=)	single nucleotide variant	Likely benign	rs764868771	GRCh37	Chromosome 17, 61788155: 61788155
48	STRADA	NM_001003787.2(STRADA): c.104C> T (p.Pro35Leu)	single nucleotide variant	Likely benign	rs143559168	GRCh37	Chromosome 17, 61800677: 61800677
49	STRADA	NM_001003787.2(STRADA): c.104C> T (p.Pro35Leu)	single nucleotide variant	Likely benign	rs143559168	GRCh38	Chromosome 17, 63723317: 63723317
50	STRADA	NM_001003787.2(STRADA): c.95-9C> T	single nucleotide variant	Likely benign	rs751729626	GRCh38	Chromosome 17, 63723335: 63723335

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Expression for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Search GEO for disease gene expression data for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy.

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Pathways for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Pathways related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	mTOR signaling pathway	hsa04150

Pathways related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	mTOR signaling pathway (KEGG) ⁶⁵ Show member pathways mTOR signaling pathway ³⁷	11.78	STK11 STRADA
2	AMP-activated Protein Kinase (AMPK) Signaling ¹ Show member pathways AMPK signaling pathway ³⁷ AMPK Signaling Pathway ⁶⁷	11.67	STK11 STRADA
3	mTOR signalling ⁶⁶ Show member pathways Energy dependent regulation of mTOR by LKB1-AMPK ⁶⁶ mTORC1-mediated signalling ⁶⁶ PDE3B signalling ⁶⁶ PI3K Cascade ⁶⁶ PKB-mediated events ⁶⁶ Target Of Rapamycin (TOR) Signaling ¹	11.56	STK11 STRADA
4	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴ mitochondrial L-carnitine shuttle ¹	11.19	STK11 STRADA
5	LKB1 signaling events ¹	10.25	STK11 STRADA

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GO Terms for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Biological processes related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell cycle	GO:0007049	9.32	STK11 STRADA
2	protein phosphorylation	GO:0006468	9.26	STK11 STRADA
3	cell cycle arrest	GO:0007050	9.16	STK11 STRADA
4	activation of protein kinase activity	GO:0032147	8.96	STK11 STRADA
5	positive regulation of protein serine/threonine kinase activity	GO:0071902	8.62	STK11 STRADA

Molecular functions related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein kinase activity	GO:0004672	9.16	STK11 STRADA
2	protein serine/threonine kinase activity	GO:0004674	8.96	STK11 STRADA
3	protein kinase activator activity	GO:0030295	8.62	STK11 STRADA

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Sources for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia