Meckel syndrome, type 1

Preferred Label : Meckel syndrome, type 1;

Symbol : MKS1;

CISMeF acronym : MES; MKS; MKS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Meckel-gruber syndrome; Meckel syndrome; MKS; Dysencephalia splanchnocystica; Gruber syndrome; Meckel-gruber syndrome, type 1; MES;

Description : Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe, 1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. - Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q13; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12.2; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24.31; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11.2; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; and MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MKS1 gene (MKS1, 609883.0001);

Prefixed ID : #249000;

Details

Origin ID

249000;

UMLS CUI

C3714506;

Automatic exact mappings (from CISMeF team)
- ATP7A wt Allele [NCIt concept]
- Cystic kidney disease, unspecified [ICD-10 Sub-category]
- ME1 wt Allele [NCIt concept]
- MKS transition zone complex subunit 1 [HGNC gene]
- Meckel-Gruber syndrome [ICD-11 Sub-sub category]
- Nephrocystin 3-related Meckel-like syndrome (disorder) [SNOMED CT concept]
- RPGRIP1 like [HGNC gene]
- centrosomal protein 290 [HGNC gene]
- coiled-coil and C2 domain containing 2A [HGNC gene]
- nephrocystin 3 [HGNC gene]
- renal hepatic pancreatic dysplasia dandy walker cyst [MeSH Supplementary Concept]
- tectonic family member 2 [HGNC gene]
Broader ORDO disease(s)
- Meckel syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- MKS transition zone complex subunit 1 [ORDO Gene]
- Meckel Gruber syndrome [Disease (Nov.)]
- Meckel syndrome [PASCAL descriptor]
- Meckel syndrome [ORDO Disease]
- Meckel syndrome [DO Concept]
- Meckel syndrome 1 [DO Concept]
- Meckel syndrome type 1 [MeSH concept]
- Meckel-Gruber Syndrome [NCIt concept]
- Meckel-Gruber syndrome (disorder) [SNOMED CT concept]
- meckel syndrome type 1 [MeSH Supplementary Concept]
- meckel-gruber syndrome [SNOMED Notion]
DO Cross reference
- Meckel syndrome 1 [DO Concept]
False automatic mappings
- MKS System [NCIt concept]
- Maine [NCIt concept]
- Master of Engineering [NCIt concept]
- McKeown Esophagectomy [NCIt concept]
- Medical Examiner [NCIt concept]
- Midkine [NCIt concept]
- Montenegro [NCIt concept]
- North Macedonia [NCIt concept]
- metabolism [MeSH Descriptor]
Genes related to phenotype
- Mks transition zone complex subunit 1 [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Abnormality of the larynx [HPO term]
- Abnormality of the ureter [HPO term]
- Abnormality of the uterus [HPO term]
- Accessory spleen [HPO term]
- Adrenal hypoplasia [HPO term]
- Agenesis of corpus callosum [HPO term]
- Ambiguous genitalia, female [HPO term]
- Ambiguous genitalia, male [HPO term]
- Anal atresia [HPO term]
- Anencephaly [HPO term]
- Asplenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Bowing of the long bones [HPO term]
- Breech presentation [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral hypoplasia [HPO term]
- Chiari malformation [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Coarctation of aorta [HPO term]
- Cryptorchidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Elevated amniotic alpha-fetoprotein in affected fetuses with encephalocele [HPO term]
- Elevated amniotic fluid alpha-fetoprotein [HPO term]
- External genital hypoplasia [HPO term]
- Foot polydactyly [HPO term]
- Genu varus [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the bladder [HPO term]
- Hypotelorism [HPO term]
- Intestinal malrotation [HPO term]
- Intrauterine growth retardation [HPO term]
- Iris coloboma [HPO term]
- Large placenta [HPO term]
- Lobulated tongue [HPO term]
- Low-set ears [HPO term]
- Malformation of the hepatic ductal plate [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Natal tooth [HPO term]
- Occipital encephalocele [HPO term]
- Olfactory lobe agenesis [HPO term]
- Oligohydramnios [HPO term]
- Omphalocele [HPO term]
- Patent ductus arteriosus [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Pulmonary hypoplasia [HPO term]
- Radial deviation of finger [HPO term]
- Renal agenesis [HPO term]
- Short neck [HPO term]
- Single umbilical artery [HPO term]
- Sloping forehead [HPO term]
- Splenomegaly [HPO term]
- Syndactyly [HPO term]
- Talipes [HPO term]
- Variable prenatal growth deficiency [HPO term]
- Vascular dilatation [HPO term]
- Webbed neck [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Meckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MKS transition zone complex subunit 1 [ORDO Gene]
- Meckel syndrome type 1 [MeSH concept]
- meckel syndrome type 1 [MeSH Supplementary Concept]

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