Disease #01802

Official abbreviation gangliosidosis-I
Name gangliosidosis, GM1, type I
OMIM ID 230500
Human Phenotype Ontology Project (HPO) HPO
Inheritance AR
Individuals reported having this disease 31
Phenotype entries for this disease 11
Associated with 1 gene GLB1
Associated tissues -
Disease features -
Remarks -


Individuals

31 entries on 1 page. Showing entries 1 - 31.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00245719 - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - gangliosidosis-I - GLB1 GLB1 2 1 -
00245720 - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - gangliosidosis-I - GLB1 GLB1 2 1 -
00245721 - PubMed: Higaki et al 2011 - - - - - - 0 - - gangliosidosis-I - GLB1 GLB1 2 1 -
00245722 - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - gangliosidosis-I - GLB1 GLB1 2 1 -
00245723 - PubMed: Higaki et al 2011 - - - - Russian - 0 - - gangliosidosis-I - GLB1 GLB1 2 1 -
00245724 - PubMed: Higaki et al 2011 - - - - British - 0 - - gangliosidosis-I - GLB1 GLB1 2 1 -
00245725 - PubMed: Higaki et al 2011 - - - - Belgian - 0 - - gangliosidosis-I - GLB1 GLB1 1 1 -
00245726 - PubMed: Higaki et al 2011 - - - - Estonian - 0 - - gangliosidosis-I - GLB1 GLB1 2 1 -
00245729 - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - gangliosidosis-I - GLB1 GLB1 2 1 -
00245730 - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - gangliosidosis-I - GLB1 GLB1 2 1 -
00245731 - PubMed: Higaki et al 2011 - - - - United Arab Emirates - 0 - - gangliosidosis-I - GLB1 GLB1 1 1 -
00245732 - PubMed: Higaki et al 2011 - - - - Indian - 0 - - gangliosidosis-I - GLB1 GLB1 1 1 -
00245733 - PubMed: Higaki et al 2011 - - - - Turkish - 0 - - gangliosidosis-I - GLB1 GLB1 1 1 -
00245734 - PubMed: Higaki et al 2011 - - - - Turkish - 0 - - gangliosidosis-I - GLB1 GLB1 1 1 -
00245735 - PubMed: Higaki et al 2011 - - - - Turkish - 0 - - gangliosidosis-I - GLB1 GLB1 1 1 -
00245736 - PubMed: Higaki et al 2011 - - - - Turkish - 0 - - gangliosidosis-I - GLB1 GLB1 1 1 -
00245739 - PubMed: Higaki et al 2011 - - - - Estonian - 0 - - gangliosidosis-I - GLB1 GLB1 2 1 -
00245741 - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - gangliosidosis-I - GLB1 GLB1 1 1 -
00245742 - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - gangliosidosis-I - GLB1 GLB1 2 1 -
00245743 - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - gangliosidosis-I - GLB1 GLB1 2 1 -
00245744 - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - gangliosidosis-I - GLB1 GLB1 2 1 -
00306727 - - - F no - - - 0 - - gangliosidosis-I HP:0010729 Cherry red spot of the macula HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0001789 Hydrops fetalis HP:0000817 Poor eye contact HP:0000505 Visual impairment GLB1 GLB1 2 1 Sarah Snanoudj
00306847 - - - M yes - - - - - - gangliosidosis-I HP:0003330 Abnormal bone structure HP:0007256 Abnormal pyramidal sign HP:0002086 Abnormality of the respiratory system HP:0002015 Dysphagia HP:0001508 Failure to thrive HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002240 Hepatomegaly HP:0002509 Limb hypertonia HP:0000817 Poor eye contact HP:0007153 Progressive extrapyramidal movement disorder HP:0002344 Progressive neurologic deterioration HP:0001250 Seizures HP:0001744 Splenomegaly HP:0000505 Visual impairment GLB1 GLB1 1 1 Sarah Snanoudj
00306913 - - - F no - - - - - - gangliosidosis-I HP:0007256 Abnormal pyramidal sign HP:0002086 Abnormality of the respiratory system HP:0002015 Dysphagia HP:0001508 Failure to thrive HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002509 Limb hypertonia HP:0000817 Poor eye contact HP:0007153 Progressive extrapyramidal movement disorder HP:0002344 Progressive neurologic deterioration HP:0001250 Seizures HP:000320 Skeletal muscle atrophy GLB1 GLB1 2 1 Sarah Snanoudj
00306914 - - - F yes - - 00y00m - - - gangliosidosis-I HP:0001789 Hydrops fetalis GLB1 GLB1 1 1 Sarah Snanoudj
00306915 - - - F yes - - - - - - gangliosidosis-I HP:0001789 Hydrops fetalis GLB1 GLB1 1 1 Sarah Snanoudj
00307109 - - - F no - - - - - - gangliosidosis-I HP:0007256 Abnormal pyramidal sign HP:0002086 Abnormality of the respiratory system HP:0002015 Dysphagia HP:0001508 Failure to thrive HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002808 Kyphosis HP:0002509 Limb hypertonia HP:0000639 Nystagmus HP:0007153 Progressive extrapyramidal movement disorder HP:0002344 Progressive neurologic deterioration HP:0002650 Scoliosis HP:0001250 Seizures GLB1 GLB1 2 1 Sarah Snanoudj
00307112 - - - M yes - - - - - - gangliosidosis-I HP:0010729 Cherry red spot of the macula HP:0002910 Elevated hepatic transaminase HP:0001508 Failure to thrive HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002240 Hepatomegaly HP:0001744 Splenomegaly GLB1 GLB1 1 1 Sarah Snanoudj
00307573 - - - M yes - - - 0 - - gangliosidosis-I HP:0001789 Hydrops fetalis GLB1 GLB1 1 1 Sarah Snanoudj
00307574 - - - F no - - - - - - gangliosidosis-I - GLB1 GLB1 2 1 Sarah Snanoudj
00307575 - - - M no - - - - - - gangliosidosis-I HP:0003330 Abnormal bone structure HP:0001999 Abnormal facial shape HP:0002086 Abnormality of the respiratory system HP:0010729 Cherry red spot of the macula HP:0002015 Dysphagia HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002240 Hepatomegaly HP:0002344 Progressive neurologic deterioration HP:000320 Skeletal muscle atrophy HP:0000505 Visual impairment GLB1 GLB1 2 1 Sarah Snanoudj
Legend