MKS11
MCID: MCK020
MIFTS: 25

Meckel Syndrome, Type 11 (MKS11)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Meckel Syndrome, Type 11

MalaCards integrated aliases for Meckel Syndrome, Type 11:

Name: Meckel Syndrome, Type 11 57 29 6 39 70
Meckel Syndrome 11 57 72
Mks11 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families have been reported (last curated september 2013)
death in utero or early infancy


HPO:

31
meckel syndrome, type 11:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615397
OMIM Phenotypic Series 57 PS249000
UMLS 70 C3809352

Summaries for Meckel Syndrome, Type 11

UniProtKB/Swiss-Prot : 72 Meckel syndrome 11: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.

MalaCards based summary : Meckel Syndrome, Type 11, is also known as meckel syndrome 11. An important gene associated with Meckel Syndrome, Type 11 is TMEM231 (Transmembrane Protein 231). Affiliated tissues include kidney, and related phenotypes are polycystic kidney dysplasia and oligohydramnios

More information from OMIM: 615397 PS249000

Related Diseases for Meckel Syndrome, Type 11

Symptoms & Phenotypes for Meckel Syndrome, Type 11

Human phenotypes related to Meckel Syndrome, Type 11:

31
# Description HPO Frequency HPO Source Accession
1 polycystic kidney dysplasia 31 HP:0000113
2 oligohydramnios 31 HP:0001562
3 occipital encephalocele 31 HP:0002085
4 polydactyly 31 HP:0010442

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Skeletal Hands:
polydactyly

Genitourinary Kidneys:
polycystic kidneys

Neurologic Central Nervous System:
occipital encephalocele

Skeletal Feet:
polydactyly

Clinical features from OMIM®:

615397 (Updated 05-Apr-2021)

Drugs & Therapeutics for Meckel Syndrome, Type 11

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 11

Genetic Tests for Meckel Syndrome, Type 11

Genetic tests related to Meckel Syndrome, Type 11:

# Genetic test Affiliating Genes
1 Meckel Syndrome, Type 11 29 TMEM231

Anatomical Context for Meckel Syndrome, Type 11

MalaCards organs/tissues related to Meckel Syndrome, Type 11:

40
Kidney

Publications for Meckel Syndrome, Type 11

Articles related to Meckel Syndrome, Type 11:

# Title Authors PMID Year
1
Mutations in TMEM231 cause Meckel-Gruber syndrome. 6 57
23349226 2013
2
TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. 6
27449316 2016
3
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. 6
25869670 2015
4
Mutations in TMEM231 cause Joubert syndrome in French Canadians. 6
23012439 2012
5
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 6
17576681 2007
6
Statistical features of human exons and their flanking regions. 6
9536098 1998

Variations for Meckel Syndrome, Type 11

ClinVar genetic disease variations for Meckel Syndrome, Type 11:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM231 NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro) SNV Pathogenic 64620 rs397514754 GRCh37: 16:75574028-75574028
GRCh38: 16:75540130-75540130
2 TMEM231 NM_001077418.3(TMEM231):c.438+1G>A SNV Pathogenic 437010 rs1415483600 GRCh37: 16:75579723-75579723
GRCh38: 16:75545825-75545825
3 TMEM231 NM_001077418.3(TMEM231):c.664+4A>G SNV Pathogenic 437009 rs760426025 GRCh37: 16:75576496-75576496
GRCh38: 16:75542598-75542598
4 TMEM231 NC_000016.10:g.(?_75539974)_(75545515_?)del Deletion Pathogenic 473319 GRCh37: 16:75573872-75579413
GRCh38: 16:75539974-75545515
5 TMEM231 NM_001077418.3(TMEM231):c.664+4A>G SNV Pathogenic 437009 rs760426025 GRCh37: 16:75576496-75576496
GRCh38: 16:75542598-75542598
6 TMEM231 NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) SNV Pathogenic 39822 rs200799769 GRCh37: 16:75576539-75576539
GRCh38: 16:75542641-75542641
7 TMEM231 NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) SNV Pathogenic 64619 rs397514753 GRCh37: 16:75576500-75576500
GRCh38: 16:75542602-75542602
8 TMEM231 NM_001077418.3(TMEM231):c.139+47C>A SNV Pathogenic 565503 rs200063331 GRCh37: 16:75589922-75589922
GRCh38: 16:75556024-75556024
9 TMEM231 NM_001077418.3(TMEM231):c.438+5G>C SNV Likely pathogenic 971624 GRCh37: 16:75579719-75579719
GRCh38: 16:75545821-75545821
10 TMEM231 NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) SNV Conflicting interpretations of pathogenicity 570416 rs199813223 GRCh37: 16:75575308-75575308
GRCh38: 16:75541410-75541410
11 TMEM231 NM_001077418.3(TMEM231):c.526C>G (p.Leu176Val) SNV Uncertain significance 592107 rs775613602 GRCh37: 16:75579306-75579306
GRCh38: 16:75545408-75545408
12 TMEM231 NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) SNV Uncertain significance 646847 rs1597051521 GRCh37: 16:75590097-75590097
GRCh38: 16:75556199-75556199
13 TMEM231 NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) SNV Uncertain significance 648618 rs774528098 GRCh37: 16:75589835-75589835
GRCh38: 16:75555937-75555937
14 TMEM231 NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) SNV Uncertain significance 649504 rs1295551040 GRCh37: 16:75575264-75575264
GRCh38: 16:75541366-75541366
15 TMEM231 NM_001077416.2(TMEM231):c.10A>G (p.Arg4Gly) SNV Uncertain significance 657708 rs1176007249 GRCh37: 16:75590160-75590160
GRCh38: 16:75556262-75556262
16 TMEM231 NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) SNV Uncertain significance 665253 rs1597041448 GRCh37: 16:75579338-75579338
GRCh38: 16:75545440-75545440
17 TMEM231 NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) SNV Uncertain significance 285611 rs746025189 GRCh37: 16:75575291-75575291
GRCh38: 16:75541393-75541393
18 TMEM231 NC_000016.9:g.(?_75573872)_(75579413_?)dup Duplication Uncertain significance 473320 GRCh37: 16:75573872-75579413
GRCh38: 16:75539974-75545515
19 TMEM231 Duplication Uncertain significance 473318 GRCh37:
GRCh38: 16:75539974-75542703
20 TMEM231 NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro) SNV Uncertain significance 936566 GRCh37: 16:75579782-75579782
GRCh38: 16:75545884-75545884
21 TMEM231 NM_001077418.3(TMEM231):c.777G>T (p.Gln259His) SNV Uncertain significance 939662 GRCh37: 16:75574066-75574066
GRCh38: 16:75540168-75540168
22 TMEM231 NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg) SNV Uncertain significance 857940 GRCh37: 16:75579782-75579782
GRCh38: 16:75545884-75545884
23 TMEM231 NM_001077418.3(TMEM231):c.140-30A>C SNV Uncertain significance 863877 GRCh37: 16:75589901-75589901
GRCh38: 16:75556003-75556003
24 TMEM231 NM_001077418.3(TMEM231):c.119T>G (p.Leu40Arg) SNV Uncertain significance 635014 rs1567441193 GRCh37: 16:75589989-75589989
GRCh38: 16:75556091-75556091
25 TMEM231 NM_001077418.3(TMEM231):c.771-5_771-2delinsTGTC Indel Uncertain significance 1028505 GRCh37: 16:75574074-75574077
GRCh38: 16:75540176-75540179
26 TMEM231 NM_001077418.3(TMEM231):c.582+6A>G SNV Uncertain significance 379405 rs376300743 GRCh37: 16:75579244-75579244
GRCh38: 16:75545346-75545346
27 TMEM231 NM_001077418.3(TMEM231):c.770+3A>G SNV Uncertain significance 1045110 GRCh37: 16:75575245-75575245
GRCh38: 16:75541347-75541347
28 TMEM231 NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg) SNV Uncertain significance 1046518 GRCh37: 16:75576511-75576511
GRCh38: 16:75542613-75542613
29 TMEM231 NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) SNV Uncertain significance 286672 rs199605221 GRCh37: 16:75574052-75574052
GRCh38: 16:75540154-75540154
30 TMEM231 NM_001077418.3(TMEM231):c.454G>A (p.Val152Met) SNV Uncertain significance 1001022 GRCh37: 16:75579378-75579378
GRCh38: 16:75545480-75545480
31 TMEM231 NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly) SNV Uncertain significance 1005050 GRCh37: 16:75589764-75589764
GRCh38: 16:75555866-75555866
32 TMEM231 NM_001077418.3(TMEM231):c.663C>T (p.Asn221=) SNV Uncertain significance 1014982 GRCh37: 16:75576501-75576501
GRCh38: 16:75542603-75542603
33 TMEM231 NM_001077416.2(TMEM231):c.19C>A (p.Gln7Lys) SNV Uncertain significance 1025278 GRCh37: 16:75590151-75590151
GRCh38: 16:75556253-75556253
34 TMEM231 NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=) SNV Uncertain significance 1026754 GRCh37: 16:75590063-75590063
GRCh38: 16:75556165-75556165
35 TMEM231 NM_001077418.3(TMEM231):c.843C>G (p.Leu281=) SNV Uncertain significance 939661 GRCh37: 16:75574000-75574000
GRCh38: 16:75540102-75540102
36 TMEM231 NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) SNV Likely benign 380471 rs146210288 GRCh37: 16:75575299-75575299
GRCh38: 16:75541401-75541401
37 TMEM231 NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) SNV Likely benign 516700 rs201181950 GRCh37: 16:75590013-75590013
GRCh38: 16:75556115-75556115
38 DUOX2 NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) SNV Likely benign 235495 rs138353181 GRCh37: 15:45397993-45397993
GRCh38: 15:45105795-45105795
39 TMEM231 NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) SNV Likely benign 380470 rs371709760 GRCh37: 16:75590101-75590101
GRCh38: 16:75556203-75556203
40 TMEM231 NM_001077418.3(TMEM231):c.-15C>T SNV Likely benign 676718 rs138060715 GRCh37: 16:75590122-75590122
GRCh38: 16:75556224-75556224
41 TMEM231 NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) SNV Likely benign 287699 rs377440297 GRCh37: 16:75589979-75589979
GRCh38: 16:75556081-75556081
42 TMEM231 NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val) SNV Likely benign 786834 rs182008317 GRCh37: 16:75573915-75573915
GRCh38: 16:75540017-75540017
43 TMEM231 NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu) SNV Likely benign 786835 rs186119649 GRCh37: 16:75573916-75573916
GRCh38: 16:75540018-75540018
44 TMEM231 NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal) Inversion Likely benign 473321 GRCh37: 16:75573915-75573916
GRCh38: 16:75540017-75540018
45 TMEM231 NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) SNV Likely benign 516234 rs115739052 GRCh37: 16:75590158-75590158
GRCh38: 16:75556260-75556260
46 TMEM231 NM_001077418.3(TMEM231):c.583-10C>T SNV Likely benign 540544 rs774265542 GRCh37: 16:75576591-75576591
GRCh38: 16:75542693-75542693
47 TMEM231 NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) SNV Likely benign 540545 rs201036290 GRCh37: 16:75579362-75579362
GRCh38: 16:75545464-75545464
48 TMEM231 NM_001077418.3(TMEM231):c.798A>G (p.Val266=) SNV Likely benign 540546 rs772364535 GRCh37: 16:75574045-75574045
GRCh38: 16:75540147-75540147
49 TMEM231 NM_001077418.3(TMEM231):c.140-15C>T SNV Likely benign 707232 rs201518524 GRCh37: 16:75589886-75589886
GRCh38: 16:75555988-75555988
50 TMEM231 NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) SNV Likely benign 741715 rs541349898 GRCh37: 16:75573973-75573973
GRCh38: 16:75540075-75540075

UniProtKB/Swiss-Prot genetic disease variations for Meckel Syndrome, Type 11:

72
# Symbol AA change Variation ID SNP ID
1 TMEM231 p.Gln272Pro VAR_070456 rs397514754

Expression for Meckel Syndrome, Type 11

Search GEO for disease gene expression data for Meckel Syndrome, Type 11.

Pathways for Meckel Syndrome, Type 11

GO Terms for Meckel Syndrome, Type 11

Sources for Meckel Syndrome, Type 11

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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