MKS11
MCID: MCK020
MIFTS: 26

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 20-May-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 eye, liver and 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 (showing 4, show less)
# 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 20-May-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 20-May-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
Eye, Liver, Kidney

Publications for Meckel Syndrome, Type 11

Articles related to Meckel Syndrome, Type 11:

(showing 6, show less)
# Title Authors PMID Year
1
Mutations in TMEM231 cause Meckel-Gruber syndrome. 57 6
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 (showing 66, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM231 NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) SNV Pathogenic 64619 rs397514753 GRCh37: 16:75576500-75576500
GRCh38: 16:75542602-75542602
2 TMEM231 NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro) SNV Pathogenic 64620 rs397514754 GRCh37: 16:75574028-75574028
GRCh38: 16:75540130-75540130
3 TMEM231 NM_001077418.3(TMEM231):c.438+1G>A SNV Pathogenic 437010 rs1415483600 GRCh37: 16:75579723-75579723
GRCh38: 16:75545825-75545825
4 TMEM231 NM_001077418.3(TMEM231):c.664+4A>G SNV Pathogenic 437009 rs760426025 GRCh37: 16:75576496-75576496
GRCh38: 16:75542598-75542598
5 TMEM231 NC_000016.10:g.(?_75539974)_(75545515_?)del Deletion Pathogenic 473319 GRCh37: 16:75573872-75579413
GRCh38: 16:75539974-75545515
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.664+4A>G SNV Pathogenic 437009 rs760426025 GRCh37: 16:75576496-75576496
GRCh38: 16:75542598-75542598
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.791A>C (p.Glu264Ala) SNV Uncertain significance 286672 rs199605221 GRCh37: 16:75574052-75574052
GRCh38: 16:75540154-75540154
13 TMEM231 NM_001077418.3(TMEM231):c.119T>G (p.Leu40Arg) SNV Uncertain significance 635014 rs1567441193 GRCh37: 16:75589989-75589989
GRCh38: 16:75556091-75556091
14 TMEM231 NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) SNV Uncertain significance 646847 rs1597051521 GRCh37: 16:75590097-75590097
GRCh38: 16:75556199-75556199
15 TMEM231 NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) SNV Uncertain significance 648618 rs774528098 GRCh37: 16:75589835-75589835
GRCh38: 16:75555937-75555937
16 TMEM231 NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) SNV Uncertain significance 649504 rs1295551040 GRCh37: 16:75575264-75575264
GRCh38: 16:75541366-75541366
17 TMEM231 NM_001077416.2(TMEM231):c.10A>G (p.Arg4Gly) SNV Uncertain significance 657708 rs1176007249 GRCh37: 16:75590160-75590160
GRCh38: 16:75556262-75556262
18 TMEM231 NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) SNV Uncertain significance 665253 rs1597041448 GRCh37: 16:75579338-75579338
GRCh38: 16:75545440-75545440
19 TMEM231 NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg) SNV Uncertain significance 857940 GRCh37: 16:75579782-75579782
GRCh38: 16:75545884-75545884
20 TMEM231 NM_001077418.3(TMEM231):c.140-30A>C SNV Uncertain significance 863877 GRCh37: 16:75589901-75589901
GRCh38: 16:75556003-75556003
21 TMEM231 NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) SNV Uncertain significance 285611 rs746025189 GRCh37: 16:75575291-75575291
GRCh38: 16:75541393-75541393
22 TMEM231 Duplication Uncertain significance 473318 GRCh37:
GRCh38: 16:75539974-75542703
23 TMEM231 NC_000016.9:g.(?_75573872)_(75579413_?)dup Duplication Uncertain significance 473320 GRCh37: 16:75573872-75579413
GRCh38: 16:75539974-75545515
24 TMEM231 NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro) SNV Uncertain significance 936566 GRCh37: 16:75579782-75579782
GRCh38: 16:75545884-75545884
25 TMEM231 NM_001077418.3(TMEM231):c.843C>G (p.Leu281=) SNV Uncertain significance 939661 GRCh37: 16:75574000-75574000
GRCh38: 16:75540102-75540102
26 TMEM231 NM_001077418.3(TMEM231):c.777G>T (p.Gln259His) SNV Uncertain significance 939662 GRCh37: 16:75574066-75574066
GRCh38: 16:75540168-75540168
27 TMEM231 NM_001077418.3(TMEM231):c.454G>A (p.Val152Met) SNV Uncertain significance 1001022 GRCh37: 16:75579378-75579378
GRCh38: 16:75545480-75545480
28 TMEM231 NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly) SNV Uncertain significance 1005050 GRCh37: 16:75589764-75589764
GRCh38: 16:75555866-75555866
29 TMEM231 NM_001077418.3(TMEM231):c.663C>T (p.Asn221=) SNV Uncertain significance 1014982 GRCh37: 16:75576501-75576501
GRCh38: 16:75542603-75542603
30 TMEM231 NM_001077416.2(TMEM231):c.19C>A (p.Gln7Lys) SNV Uncertain significance 1025278 GRCh37: 16:75590151-75590151
GRCh38: 16:75556253-75556253
31 TMEM231 NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=) SNV Uncertain significance 1026754 GRCh37: 16:75590063-75590063
GRCh38: 16:75556165-75556165
32 TMEM231 NM_001077418.3(TMEM231):c.771-5_771-2delinsTGTC Indel Uncertain significance 1028505 GRCh37: 16:75574074-75574077
GRCh38: 16:75540176-75540179
33 TMEM231 NM_001077418.3(TMEM231):c.582+6A>G SNV Uncertain significance 379405 rs376300743 GRCh37: 16:75579244-75579244
GRCh38: 16:75545346-75545346
34 TMEM231 NM_001077418.3(TMEM231):c.770+3A>G SNV Uncertain significance 1045110 GRCh37: 16:75575245-75575245
GRCh38: 16:75541347-75541347
35 TMEM231 NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg) SNV Uncertain significance 1046518 GRCh37: 16:75576511-75576511
GRCh38: 16:75542613-75542613
36 TMEM231 NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn) SNV Uncertain significance 1052480 GRCh37: 16:75579840-75579840
GRCh38: 16:75545942-75545942
37 TMEM231 NM_001077418.3(TMEM231):c.-40C>G SNV Uncertain significance 419048 rs114889548 GRCh37: 16:75590147-75590147
GRCh38: 16:75556249-75556249
38 TMEM231 NM_001077418.3(TMEM231):c.582C>T (p.Asn194=) SNV Uncertain significance 379404 rs199776253 GRCh37: 16:75579250-75579250
GRCh38: 16:75545352-75545352
39 TMEM231 NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu) SNV Uncertain significance 1059988 GRCh37: 16:75576543-75576543
GRCh38: 16:75542645-75542645
40 TMEM231 NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu) SNV Uncertain significance 1062223 GRCh37: 16:75574057-75574057
GRCh38: 16:75540159-75540159
41 TMEM231 NM_001077418.3(TMEM231):c.309G>C (p.Ser103=) SNV Uncertain significance 1062942 GRCh37: 16:75589702-75589702
GRCh38: 16:75555804-75555804
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 DUOX2 NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) SNV Likely benign 235495 rs138353181 GRCh37: 15:45397993-45397993
GRCh38: 15:45105795-45105795
45 TMEM231 NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal) Inversion Likely benign 473321 GRCh37: 16:75573915-75573916
GRCh38: 16:75540017-75540018
46 TMEM231 NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) SNV Likely benign 516234 rs115739052 GRCh37: 16:75590158-75590158
GRCh38: 16:75556260-75556260
47 TMEM231 NM_001077418.3(TMEM231):c.583-10C>T SNV Likely benign 540544 rs774265542 GRCh37: 16:75576591-75576591
GRCh38: 16:75542693-75542693
48 TMEM231 NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) SNV Likely benign 540545 rs201036290 GRCh37: 16:75579362-75579362
GRCh38: 16:75545464-75545464
49 TMEM231 NM_001077418.3(TMEM231):c.798A>G (p.Val266=) SNV Likely benign 540546 rs772364535 GRCh37: 16:75574045-75574045
GRCh38: 16:75540147-75540147
50 TMEM231 NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) SNV Likely benign 287699 rs377440297 GRCh37: 16:75589979-75589979
GRCh38: 16:75556081-75556081
51 TMEM231 NM_001077418.3(TMEM231):c.-15C>T SNV Likely benign 676718 rs138060715 GRCh37: 16:75590122-75590122
GRCh38: 16:75556224-75556224
52 TMEM231 NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) SNV Likely benign 741715 rs541349898 GRCh37: 16:75573973-75573973
GRCh38: 16:75540075-75540075
53 TMEM231 NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) SNV Likely benign 380470 rs371709760 GRCh37: 16:75590101-75590101
GRCh38: 16:75556203-75556203
54 TMEM231 NM_001077418.3(TMEM231):c.140-15C>T SNV Likely benign 707232 rs201518524 GRCh37: 16:75589886-75589886
GRCh38: 16:75555988-75555988
55 TMEM231 NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) SNV Likely benign 380471 rs146210288 GRCh37: 16:75575299-75575299
GRCh38: 16:75541401-75541401
56 TMEM231 NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) SNV Likely benign 516700 rs201181950 GRCh37: 16:75590013-75590013
GRCh38: 16:75556115-75556115
57 TMEM231 NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) SNV Benign 501272 rs149118721 GRCh37: 16:75574039-75574039
GRCh38: 16:75540141-75540141
58 TMEM231 NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) SNV Benign 775010 rs375273015 GRCh37: 16:75579361-75579361
GRCh38: 16:75545463-75545463
59 TMEM231 NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) SNV Benign 506429 rs557695110 GRCh37: 16:75579786-75579786
GRCh38: 16:75545888-75545888
60 TMEM231 NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) SNV Benign 284419 rs202215735 GRCh37: 16:75590017-75590017
GRCh38: 16:75556119-75556119
61 TMEM231 NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) SNV Benign 385987 rs201636741 GRCh37: 16:75579334-75579334
GRCh38: 16:75545436-75545436
62 TMEM231 NM_001077418.3(TMEM231):c.891G>A (p.Val297=) SNV Benign 212404 rs149888762 GRCh37: 16:75573952-75573952
GRCh38: 16:75540054-75540054
63 TMEM231 NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) SNV Benign 130588 rs78196225 GRCh37: 16:75589834-75589834
GRCh38: 16:75555936-75555936
64 TMEM231 NM_001077418.3(TMEM231):c.582+3A>G SNV Benign 130589 rs114290622 GRCh37: 16:75579247-75579247
GRCh38: 16:75545349-75545349
65 TMEM231 NM_001077418.3(TMEM231):c.140-28C>G SNV Benign 257329 rs375353411 GRCh37: 16:75589899-75589899
GRCh38: 16:75556001-75556001
66 TMEM231 NM_001077418.3(TMEM231):c.582+8C>G SNV Benign 130590 rs144252983 GRCh37: 16:75579242-75579242
GRCh38: 16:75545344-75545344

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

72 (showing 1, show less)
# 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
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