MCID: MCK036
MIFTS: 20

Meckel Syndrome, Type 9

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 9

MalaCards integrated aliases for Meckel Syndrome, Type 9:

Name: Meckel Syndrome, Type 9 57 29 6 40 73
Meckel Syndrome 9 57 75 13
Mks9 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
meckel syndrome, type 9:
Inheritance autosomal recessive inheritance


Classifications:



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 multicystic kidney dysplasia and ambiguous genitalia

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Abdomen External Features:
enlarged abdomen

Genitourinary Kidneys:
cystic dysplasia

Skeletal Limbs:
short limbs

Neurologic Central Nervous System:
encephalocele, occipital

Genitourinary External Genitalia Male:
ambiguous genitalia

Genitourinary Bladder:
absence of bladder

Skeletal Feet:
club feet


Clinical features from OMIM:

614209

Human phenotypes related to Meckel Syndrome, Type 9:

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

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

Anatomical Context for Meckel Syndrome, Type 9

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

41
Kidney

Publications for Meckel Syndrome, Type 9

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_015681.4(B9D1): c.472+28C> T single nucleotide variant Benign rs4924987 GRCh37 Chromosome 17, 19247075: 19247075
5 B9D1 NM_015681.4(B9D1): c.472+28C> T 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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