MKS9
MCID: MCK036
MIFTS: 22

Meckel Syndrome, Type 9 (MKS9)

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 9

MalaCards integrated aliases for Meckel Syndrome, Type 9:

Name: Meckel Syndrome, Type 9 58 30 6 41 74
Meckel Syndrome 9 58 76 13
Mks9 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
perinatal lethal
one patient has been reported (last curated april 2015)


HPO:

33
meckel syndrome, type 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 9

OMIM : 58 Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by Hopp et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). (614209)

MalaCards based summary : Meckel Syndrome, Type 9, is also known as meckel syndrome 9. An important gene associated with Meckel Syndrome, Type 9 is B9D1 (B9 Domain Containing 1). Affiliated tissues include kidney, liver and bone, and related phenotypes are talipes equinovarus and multicystic kidney dysplasia

UniProtKB/Swiss-Prot : 76 Meckel syndrome 9: 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.

Related Diseases for Meckel Syndrome, Type 9

Symptoms & Phenotypes for Meckel Syndrome, Type 9

Human phenotypes related to Meckel Syndrome, Type 9:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 33 HP:0001762
2 multicystic kidney dysplasia 33 HP:0000003
3 ambiguous genitalia 33 HP:0000062
4 occipital encephalocele 33 HP:0002085
5 abnormality of the posterior cranial fossa 33 HP:0000932
6 limb undergrowth 33 HP:0009826

Symptoms via clinical synopsis from OMIM:

58
Genitourinary External Genitalia Male:
ambiguous genitalia

Skeletal Feet:
club feet

Abdomen External Features:
enlarged abdomen

Genitourinary Bladder:
absence of bladder

Skeletal Limbs:
short limbs

Genitourinary Kidneys:
cystic dysplasia

Neurologic Central Nervous System:
encephalocele, occipital

Clinical features from OMIM:

614209

Drugs & Therapeutics for Meckel Syndrome, Type 9

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 9

Genetic Tests for Meckel Syndrome, Type 9

Genetic tests related to Meckel Syndrome, Type 9:

# Genetic test Affiliating Genes
1 Meckel Syndrome, Type 9 30 B9D1

Anatomical Context for Meckel Syndrome, Type 9

MalaCards organs/tissues related to Meckel Syndrome, Type 9:

42
Kidney, Liver, Bone, Eye

Publications for Meckel Syndrome, Type 9

Articles related to Meckel Syndrome, Type 9:

# Title Authors Year
1
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. ( 21493627 )
2011

Variations for Meckel Syndrome, Type 9

ClinVar genetic disease variations for Meckel Syndrome, Type 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 B9D1 NM_001243473.2(B9D1): c.400+2T> C single nucleotide variant Likely pathogenic rs143149764 GRCh37 Chromosome 17, 19251095: 19251095
2 B9D1 NM_001243473.2(B9D1): c.400+2T> C single nucleotide variant Likely pathogenic rs143149764 GRCh38 Chromosome 17, 19347782: 19347782
3 B9D1 B9D1, 1.71-MB DEL deletion Pathogenic
4 B9D1 NM_001243473.2(B9D1): c.559C> T (p.His187Tyr) single nucleotide variant Benign rs4924987 GRCh37 Chromosome 17, 19247075: 19247075
5 B9D1 NM_001243473.2(B9D1): c.559C> T (p.His187Tyr) single nucleotide variant Benign rs4924987 GRCh38 Chromosome 17, 19343762: 19343762

Expression for Meckel Syndrome, Type 9

Search GEO for disease gene expression data for Meckel Syndrome, Type 9.

Pathways for Meckel Syndrome, Type 9

GO Terms for Meckel Syndrome, Type 9

Sources for Meckel Syndrome, Type 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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