MKS9
MCID: MCK036
MIFTS: 21

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 57 29 6 40 72
Meckel Syndrome 9 57 74 29 13
Mks9 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
meckel syndrome, type 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MedGen 42 C3280155
UMLS 72 C3280155

Summaries for Meckel Syndrome, Type 9

OMIM : 57 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, and related phenotypes are talipes equinovarus and multicystic kidney dysplasia

UniProtKB/Swiss-Prot : 74 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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 32 HP:0001762
2 multicystic kidney dysplasia 32 HP:0000003
3 ambiguous genitalia 32 HP:0000062
4 occipital encephalocele 32 HP:0002085
5 abnormality of the posterior cranial fossa 32 HP:0000932
6 limb undergrowth 32 HP:0009826

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
ambiguous genitalia

Skeletal Limbs:
short limbs

Genitourinary Kidneys:
cystic dysplasia

Genitourinary Bladder:
absence of bladder

Abdomen External Features:
enlarged abdomen

Skeletal Feet:
club feet

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 29 B9D1
2 Meckel Syndrome 9 29

Anatomical Context for Meckel Syndrome, Type 9

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

41
Kidney

Publications for Meckel Syndrome, Type 9

Articles related to Meckel Syndrome, Type 9:

# Title Authors PMID Year
1
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. 8 71
21493627 2011

Variations for Meckel Syndrome, Type 9

ClinVar genetic disease variations for Meckel Syndrome, Type 9:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 B9D1 B9D1, 1.71-MB DEL deletion Pathogenic
2 B9D1 NM_015681.5(B9D1): c.341+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs143149764 17:19251095-19251095 17:19347782-19347782
3 B9D1 NM_001243473.2(B9D1): c.559C> T (p.His187Tyr) single nucleotide variant Benign rs4924987 17:19247075-19247075 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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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