MCID: MCK020
MIFTS: 19

Meckel Syndrome, Type 11

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

Aliases & Classifications for Meckel Syndrome, Type 11

MalaCards integrated aliases for Meckel Syndrome, Type 11:

Name: Meckel Syndrome, Type 11 57 29 6 40 73
Meckel Syndrome 11 57 75
Mks11 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
meckel syndrome, type 11:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615397
UMLS 73 C3809352

Summaries for Meckel Syndrome, Type 11

UniProtKB/Swiss-Prot : 75 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

Description from OMIM: 615397

Related Diseases for Meckel Syndrome, Type 11

Symptoms & Phenotypes for Meckel Syndrome, Type 11

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
polycystic kidneys

Skeletal Feet:
polydactyly

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Skeletal Hands:
polydactyly

Neurologic Central Nervous System:
occipital encephalocele


Clinical features from OMIM:

615397

Human phenotypes related to Meckel Syndrome, Type 11:

32
# Description HPO Frequency HPO Source Accession
1 polycystic kidney dysplasia 32 HP:0000113
2 oligohydramnios 32 HP:0001562
3 occipital encephalocele 32 HP:0002085
4 polydactyly 32 HP:0010442

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:

41
Kidney

Publications for Meckel Syndrome, Type 11

Variations for Meckel Syndrome, Type 11

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

75
# Symbol AA change Variation ID SNP ID
1 TMEM231 p.Gln272Pro VAR_070456 rs397514754

ClinVar genetic disease variations for Meckel Syndrome, Type 11:

6
(show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM231 NM_001077416.2(TMEM231): c.784G> A (p.Asp262Asn) single nucleotide variant Pathogenic rs200799769 GRCh37 Chromosome 16, 75576539: 75576539
2 TMEM231 NM_001077416.2(TMEM231): c.784G> A (p.Asp262Asn) single nucleotide variant Pathogenic rs200799769 GRCh38 Chromosome 16, 75542641: 75542641
3 TMEM231 NM_001077416.2(TMEM231): c.823G> A (p.Val275Ile) single nucleotide variant Pathogenic/Likely pathogenic rs397514753 GRCh37 Chromosome 16, 75576500: 75576500
4 TMEM231 NM_001077416.2(TMEM231): c.823G> A (p.Val275Ile) single nucleotide variant Pathogenic/Likely pathogenic rs397514753 GRCh38 Chromosome 16, 75542602: 75542602
5 TMEM231 NM_001077416.2(TMEM231): c.974A> C (p.Gln325Pro) single nucleotide variant Pathogenic rs397514754 GRCh38 Chromosome 16, 75540130: 75540130
6 TMEM231 NM_001077416.2(TMEM231): c.974A> C (p.Gln325Pro) single nucleotide variant Pathogenic rs397514754 GRCh37 Chromosome 16, 75574028: 75574028
7 TMEM231 NM_001077418.2(TMEM231): c.891G> A (p.Val297=) single nucleotide variant Conflicting interpretations of pathogenicity rs149888762 GRCh38 Chromosome 16, 75540054: 75540054
8 TMEM231 NM_001077418.2(TMEM231): c.891G> A (p.Val297=) single nucleotide variant Conflicting interpretations of pathogenicity rs149888762 GRCh37 Chromosome 16, 75573952: 75573952
9 TMEM231 NM_001077416.2(TMEM231): c.271C> G (p.Arg91Gly) single nucleotide variant Benign rs375353411 GRCh38 Chromosome 16, 75556001: 75556001
10 TMEM231 NM_001077416.2(TMEM231): c.271C> G (p.Arg91Gly) single nucleotide variant Benign rs375353411 GRCh37 Chromosome 16, 75589899: 75589899
11 TMEM231 NM_001077416.2(TMEM231): c.886T> C (p.Phe296Leu) single nucleotide variant Uncertain significance rs746025189 GRCh37 Chromosome 16, 75575291: 75575291
12 TMEM231 NM_001077416.2(TMEM231): c.886T> C (p.Phe296Leu) single nucleotide variant Uncertain significance rs746025189 GRCh38 Chromosome 16, 75541393: 75541393
13 TMEM231 NM_001077416.2(TMEM231): c.191C> T (p.Ser64Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs377440297 GRCh37 Chromosome 16, 75589979: 75589979
14 TMEM231 NM_001077416.2(TMEM231): c.191C> T (p.Ser64Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs377440297 GRCh38 Chromosome 16, 75556081: 75556081
15 TMEM231 NM_001077416.2(TMEM231): c.657G> A (p.Pro219=) single nucleotide variant Benign/Likely benign rs201636741 GRCh37 Chromosome 16, 75579334: 75579334
16 TMEM231 NM_001077416.2(TMEM231): c.657G> A (p.Pro219=) single nucleotide variant Benign/Likely benign rs201636741 GRCh38 Chromosome 16, 75545436: 75545436
17 TMEM231 NM_001077418.2(TMEM231): c.664+4A> G single nucleotide variant Pathogenic rs760426025 GRCh38 Chromosome 16, 75542598: 75542598
18 TMEM231 NM_001077418.2(TMEM231): c.664+4A> G single nucleotide variant Pathogenic rs760426025 GRCh37 Chromosome 16, 75576496: 75576496
19 TMEM231 NM_001077418.2(TMEM231): c.438+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 16, 75579723: 75579723
20 TMEM231 NM_001077418.2(TMEM231): c.438+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 16, 75545825: 75545825
21 TMEM231 NC_000016.10: g.(?_75539974)_(75542703_?)dup duplication Uncertain significance GRCh38 Chromosome 16, 75539974: 75542703
22 TMEM231 NC_000016.10: g.(?_75539974)_(75545515_?)del deletion Pathogenic GRCh38 Chromosome 16, 75539974: 75545515
23 TMEM231 NC_000016.10: g.(?_75539974)_(75545515_?)del deletion Pathogenic GRCh37 Chromosome 16, 75573872: 75579413
24 TMEM231 NC_000016.10: g.(?_75539974)_(75545515_?)dup duplication Uncertain significance GRCh38 Chromosome 16, 75539974: 75545515
25 TMEM231 NC_000016.10: g.(?_75539974)_(75545515_?)dup duplication Uncertain significance GRCh37 Chromosome 16, 75573872: 75579413
26 TMEM231 NM_001077416.2(TMEM231): c.1086_1087invCT (p.Asp362_Leu363delinsGluVal) inversion Likely benign GRCh38 Chromosome 16, 75540017: 75540018
27 TMEM231 NM_001077416.2(TMEM231): c.1086_1087invCT (p.Asp362_Leu363delinsGluVal) inversion Likely benign GRCh37 Chromosome 16, 75573915: 75573916
28 TMEM231 NM_001077416.2(TMEM231): c.12G> A (p.Arg4=) single nucleotide variant Benign/Likely benign rs115739052 GRCh37 Chromosome 16, 75590158: 75590158
29 TMEM231 NM_001077416.2(TMEM231): c.12G> A (p.Arg4=) single nucleotide variant Benign/Likely benign rs115739052 GRCh38 Chromosome 16, 75556260: 75556260
30 TMEM231 NM_001077416.2(TMEM231): c.957A> G (p.Val319=) single nucleotide variant Likely benign rs772364535 GRCh38 Chromosome 16, 75540147: 75540147
31 TMEM231 NM_001077416.2(TMEM231): c.957A> G (p.Val319=) single nucleotide variant Likely benign rs772364535 GRCh37 Chromosome 16, 75574045: 75574045
32 TMEM231 NM_001077416.2(TMEM231): c.629C> T (p.Ala210Val) single nucleotide variant Likely benign rs201036290 GRCh37 Chromosome 16, 75579362: 75579362
33 TMEM231 NM_001077416.2(TMEM231): c.629C> T (p.Ala210Val) single nucleotide variant Likely benign rs201036290 GRCh38 Chromosome 16, 75545464: 75545464
34 TMEM231 NM_001077416.2(TMEM231): c.742-10C> T single nucleotide variant Likely benign rs774265542 GRCh38 Chromosome 16, 75542693: 75542693
35 TMEM231 NM_001077416.2(TMEM231): c.742-10C> T single nucleotide variant Likely benign rs774265542 GRCh37 Chromosome 16, 75576591: 75576591

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

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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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