Rare Disease Library

Essential fructosuria

Fructokinase deficiency · Ketohexokinase deficiency

Glycogen storage disease due to muscle phosphofructokinase deficiency

GSD due to muscle phosphofructokinase deficiency · GSD type 7

2-methylbutyryl-CoA dehydrogenase deficiency

2-methylbutyric aciduria · Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA lyase deficiency · HMG-CoA lyase deficiency

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency

5-oxoprolinase deficiency

Oxoprolinuria due to oxoprolinase deficiency

Acatalasemia

Catalase deficiency

Acid sphingomyelinase deficiency

ASMD

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Adenylosuccinate lyase deficiency

ADSL deficiency · Adenylosuccinase deficiency

AICA-ribosiduria

5-amino-4-imidazole carboxamide ribosiduria · ATIC deficiency

Alacrimia-choreoathetosis-liver dysfunction syndrome

NGLY1 deficiency · NGLY1-CDDG

ALDH18A1-related De Barsy syndrome

Delta-1-pyrroline 5-carboxylate synthetase deficiency · Neurocutaneous syndrome, Bicknell type

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Aminoacylase 1 deficiency

ACY1D · N-acyl-L-amino acid amidohydrolase deficiency

Aminoacylase deficiency

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

Aromatase deficiency

Congenital estrogen deficiency

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

Autosomal recessive extra-oral halitosis

Methanethiol oxidase deficiency · MTO-deficiency

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity · CD16 deficiency

Autosomal recessive spastic paraplegia type 26

GM2 synthase deficiency · SPG26

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Biotinidase deficiency

Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Carnosinase deficiency

Cernunnos-XLF deficiency

Cernunnos XLFD · Cernunnos deficiency

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

Citrin deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Coenzyme Q10 deficiency

Primary coenzyme Q10 deficiency · CoQ10 deficiency

Combined immunodeficiency due to CD27 deficiency

CD27 deficiency · Autosomal recessive lymphoproliferative disease due to CD27 deficiency

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK deficiency

Common variable immunodeficiency phenotype due to CD19/CD81 deficiency

CVID phenotype due to CD19/CD81 deficiency · CD19 deficiency

Complement component 3 deficiency

C3 deficiency

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome POR deficiency · POR deficiency

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency