Disease #01823 (GSD3 (storage disease, glycogen, type III (GSD-3)), OMIM:232400)

Official abbreviation GSD3
Name storage disease, glycogen, type III (GSD-3)
OMIM ID 232400
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 26
Phenotype entries for this disease 9
Associated with 1 gene AGL
Associated tissues -
Disease features -
Remarks -


Individuals

26 entries on 1 page. Showing entries 1 - 26.
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00095189 - - - M ? Iran - - 0 - - GSD3 weakness : distal and proximal, upper and lower limbs perdominaltly distal upper limbs severe axial and mild neck weakness, foot drop achilles contracture, atrophy in deltoid, supraspinatus and intrinsic hand muscles AGL AGL 1 1 François Petit
00095197 - - - M ? Iran - - 0 - - GSD3 weakness: distal and proximal, upper and lower limbs predominantly distal upper limbs thoracis scoliosis AGL AGL 1 1 François Petit
00095199 - - - M ? Iran - - 0 - - GSD3 weakness: distal and proximal upper limbs and proximal lower limbs atrophy in thenar and hypothenar cardiac involvement since 15y/o AGL AGL 1 1 François Petit
00095202 - - - M ? Iran - - 0 - - GSD3 weakness: distal and proximal upper limbs and proximal lower limbs cardiac involvement since 39 y/o cirrhosis at 36 y/o AGL AGL 1 1 François Petit
00095204 - - - F ? Iran - - 0 - - GSD3 weakness: distal and proximal upper limbs and proximal lower limbs atrophy in first dorsal interosseus hepatomegaly and hypoglycemia AGL AGL 1 1 François Petit
00204558 - - - - - United States - - 0 - - GSD3 - AGL AGL 1 1 LOVD
00204559 - - 3 unrelated patients - - United States - - 0 - - GSD3 - AGL AGL 1 3 LOVD
00204560 - - - - - United States - - 0 - - GSD3 - AGL AGL 1 1 LOVD
00204561 - - - - - United States - - 0 - - GSD3 - AGL AGL 1 1 LOVD
00204562 - - - - - United States - - 0 - - GSD3 - AGL AGL 1 1 LOVD
00204563 - - - - - United States - - 0 - - GSD3 - AGL AGL 1 1 LOVD
00204564 - - - - - United States - - 0 - - GSD3 - AGL AGL 1 1 LOVD
00204565 - - - - - United States white - 0 - - GSD3 - AGL AGL 4 1 LOVD
00204566 - - - M - United Kingdom (Great Britain) - - 0 - - GSD3 - AGL AGL 2 1 Shu Yau
00204567 - - - M - - Jewish-Ashkenazi - 0 - - GSD3 - AGL AGL 2 1 LOVD
00204568 - - - M - United Kingdom (Great Britain) - - 0 - - GSD3 - AGL AGL 2 1 Shu Yau
00204569 - - - F - United States African-American - 0 - - GSD3 severe AGL AGL 2 1 LOVD
00204570 - - 2nd patient, unrelated - - United States - - 0 - - GSD3 severe AGL AGL 2 1 LOVD
00204571 - - - F - Japan - - 0 - - GSD3 - AGL AGL 2 1 LOVD
00204572 - - affected brother of 223003-Pat2 M - United Kingdom (Great Britain) - - 0 - - GSD3 - AGL AGL 2 1 Shu Yau
00204573 - - affected brother of 223003-Pat1 M - United Kingdom (Great Britain) - - 0 - - GSD3 - AGL AGL 2 1 Shu Yau
00204574 - - - F - United States white - 0 - - GSD3 - AGL AGL 2 1 LOVD
00228778 - - - F no China - - 0 - - GSD3 hepatomegaly, short stature, and muscle weakness. She had experienced episodes of hypoglycaemia. AGL AGL 1 1 Wenjuan Qiu
00265255 - - - M - Spain - - 0 - - GSD3 - AGL AGL 2 1 Jorge Docampo Cordeiro
00281793 G1 - - M no (Nepal) - - 0 - - GSD3 Hepatomegaly (HP:0002240);short stature (HP:0004322); Jaundice (HP:0000952) Full cheeks (HP:0000293); Growth delay (HP:0001510) Lethargy (HP:0001254); Muscular hypotonia (HP:0001252); Hypertriglyceridemia (HP:0002155), Hypoglycemia (HP:0001943); Elevated hepatic transaminase (HP:0002910); Elevated serum creatine kinase (HP:0003236); AGL AGL 1 1 Shama Perveen
00285774 G3 - - F yes India - 02y 0 - - GSD3 - AGL AGL 1 2 Shama Perveen
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