Disease #00078

Official abbreviation MKS-1
Name Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome)
OMIM ID 249000
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 15
Phenotype entries for this disease 15
Associated with 1 gene MKS1
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Individuals

15 entries on 1 page. Showing entries 1 - 15.
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00004268 - PubMed: Putoux 2011 - ? ? - - - - - - MKS-1 - KIF7 KIF7 1 1 Tania Attie-Bitach
00056050 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome - CC2D2A 2 1 Christopher Watson
00056051 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome - CC2D2A 1 1 Christopher Watson
00056052 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome - CEP290 2 1 Christopher Watson
00056053 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome - MKS1 1 1 Christopher Watson
00056055 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome - TCTN2 1 1 Christopher Watson
00056056 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome - TCTN2 1 1 Christopher Watson
00056057 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome - TCTN2 1 1 Christopher Watson
00056058 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome - TMEM67 1 1 Christopher Watson
00056059 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome - TMEM67 2 1 Christopher Watson
00056060 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome - TMEM67 1 1 Christopher Watson
00056061 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome - TMEM67 1 1 Christopher Watson
00056062 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome - TMEM67 2 1 Christopher Watson
00056063 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome - TMEM237 1 1 Christopher Watson
00058834 - - fetus, terminated pregnancy M yes Turkey - <00y00m00d 0 - - MKS-1 Presence of cystic dysplastic kidneys, occipital encephalocele, and polydactyly. In addition, post-mortem examination after pregnancy termination (23gw) disclosed a narrow bell-shaped thorax with short ribs, rhizomelic limb shortening, bowing of long bones, microphthalmia, oral-facial defects (lobulated tongue with multiple frenula and cleft soft palate), ambiguous genitalia and anal atresia. Data on liver involvement was not available. CEP120 CEP120 1 1 Enza Maria Valente
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