Disease #01802 (GM1G1 (gangliosidosis, GM1, type I), OMIM:230500)

Official abbreviation GM1G1
Name gangliosidosis, GM1, type I
OMIM ID 230500
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 41
Phenotype entries for this disease 21
Associated with 1 gene GLB1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2022-03-17 08:50:34 +01:00 (CET)


Individuals

41 entries on 1 page. Showing entries 1 - 41.
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00245719 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245720 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245721 - PubMed: Higaki et al 2011 - - - - - - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245722 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245723 - PubMed: Higaki et al 2011 - - - - Russian - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245724 - PubMed: Higaki et al 2011 - - - - British - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245725 - PubMed: Higaki et al 2011 - - - - Belgian - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245726 - PubMed: Higaki et al 2011 - - - - Estonian - - - - GM1G1 - GLB1 GLB1 2 1 LOVD
00245729 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - GLB1 GLB1 2 1 LOVD
00245730 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - GLB1 GLB1 2 1 LOVD
00245731 - PubMed: Higaki et al 2011 - - - - United Arab Emirates - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245732 - PubMed: Higaki et al 2011 - - - - Indian - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245733 - PubMed: Higaki et al 2011 - - - - Turkish - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245734 - PubMed: Higaki et al 2011 - - - - Turkish - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245735 - PubMed: Higaki et al 2011 - - - - Turkish - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245736 - PubMed: Higaki et al 2011 - - - - Turkish - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245739 - PubMed: Higaki et al 2011 - - - - Estonian - - - - GM1G1 - GLB1 GLB1 2 1 LOVD
00245741 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - GLB1 GLB1 1 1 LOVD
00245742 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - GLB1 GLB1 2 1 LOVD
00245743 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - GLB1 GLB1 2 1 LOVD
00245744 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - GLB1 GLB1 2 1 LOVD
00306727 - - - F no - - - - - - GM1G1 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 - - - - - - GM1G1 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 - - - - - - GM1G1 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 - - - GM1G1 HP:0001789 Hydrops fetalis GLB1 GLB1 1 1 Sarah Snanoudj
00306915 - - - F yes - - - - - - GM1G1 HP:0001789 Hydrops fetalis GLB1 GLB1 1 1 Sarah Snanoudj
00307109 - - - F no - - - - - - GM1G1 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 - - - - - - GM1G1 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 - - - - - - GM1G1 HP:0001789 Hydrops fetalis GLB1 GLB1 1 1 Sarah Snanoudj
00307574 - - - F no - - - - - - GM1G1 - GLB1 GLB1 2 1 Sarah Snanoudj
00307575 - - - M no - - - - - - GM1G1 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
00361899 - - - - - - - - - - - GM1G1, ichthyosis Ichthyosis, neuroregression, cherry red spots, hepatosplenomegaly - GM2A, NIPAL4 2 1 Anju Shukla
00390628 Pat1 PubMed: Tebani 2021 - F - - - - - - - GM1G1 - LIPA LIPA 1 1 Johan den Dunnen
00390629 Pat12 PubMed: Tebani 2021 - F - - - - - - - GM1G1 - LIPA LIPA 1 1 Johan den Dunnen
00390630 Pat15 PubMed: Tebani 2021 - M - - - - - - - GM1G1 - LIPA LIPA 1 1 Johan den Dunnen
00390631 Pat17 PubMed: Tebani 2021 - M - - - - - - - GM1G1 - LIPA LIPA 1 1 Johan den Dunnen
00390632 Pat18 PubMed: Tebani 2021 - F - - - - - - - GM1G1 - LIPA LIPA 2 1 Johan den Dunnen
00390633 Pat19 PubMed: Tebani 2021 - F - - - - - - - GM1G1 - LIPA LIPA 1 1 Johan den Dunnen
00390634 Pat2 PubMed: Tebani 2021 - M - - - - - - - GM1G1 - LIPA LIPA 2 1 Johan den Dunnen
00390635 Pat3 PubMed: Tebani 2021 - M - - - - - - - GM1G1 - LIPA LIPA 2 1 Johan den Dunnen
00390636 Pat9 PubMed: Tebani 2021 - F - - - - - - - GM1G1 - LIPA LIPA 2 1 Johan den Dunnen
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