Group 1 Conditions

Group 1 Conditions

All of the Group 1 conditions have medicines or interventions that prevent or lessen the symptoms of the condition. Not all of these conditions can be cured with medicine, but early diagnosis and early treatment can help to give your baby the best chance to live a healthier life.

Most conditions affect multiple systems. The categories below provide guidance on the primary impact of the genetic condition. Click on a category below to see all conditions related to that affected system.

    • Adrenoleukodystrophy (ABCD1)
    • Methylmalonic aciduria and homocystinuria, cblJ type (ABCD4)
    • Isobutyryl-CoA dehydrogenase deficiency (ACAD8)
    • ACAD9 deficiency (ACAD9)
    • ACADM-related medium-chain acyl-CoA dehydrogenase deficiency (ACADM)
    • ACADS-related short-chain acyl-CoA dehydrogenase deficiency (ACADS)
    • 2-methylbutyrylglycinuria (ACADSB)
    • ACADVL-related very long-chain acyl-CoA dehydrogenase deficiency (ACADVL)
    • ACAT1-related alpha-methylacetoacetic aciduria (ACAT1)
    • Glycogen Storage Disease III (AGL)
    • AHCY-related S-adenosylhomocysteine hydrolase deficiency (AHCY)
    • ALDH4A1-related hyperprolinemia (ALDH4A1)
    • ALDOB-related hereditary fructose intolerance (ALDOB)
    • ARG1-related arginase deficiency (ARG1)
    • Metachromatic leukodystrophy (ARSA)
    • ARSB-related mucopolysaccharidosis type 6 (ARSB)
    • ASL-related argininosuccinic aciduria (ASL)
    • ASS1-related argininosuccinate synthetase deficiency (ASS1)
    • AUH-related 3-methylglutaconic aciduria (AUH)
    • maple syrup urine disease (BCKDHA)
    • maple syrup urine disease (BCKDHB)
    • BTD-related biotinidase deficiency 2 (BTD)
    • Carbonic anhydrase Va deficiency, hyperammonemia due to CA5AD (CA5A)
    • Homocystinuria, B6-responsive and nonresponsive types (CBS)
    • Coenzyme Q10 deficiency, primary, 6 (COQ6)
    • Carbamoylphosphate synthetase I deficiency (CPS1)
    • Carnitine palmitoyltransferase 1A deficiency (CPT1A)
    • Carnitine palmitoyltransferase deficiency (CPT2)
    • Cystinosis (CTNS)
    • Cerebrotendinous xanthomatosis (CYP27A1)
    • Maple syrup urine disease (DBT)
    • Aromatic L-amino acid decarboxylase deficiency (DDC)
    • Multiple acyl-CoA dehydrogenase deficiency (ETFA)
    • Multiple acyl-CoA dehydrogenase deficiency (ETFB)
    • Multiple acyl-CoA dehydrogenase deficiency (ETFDH)
    • Tyrosinemia (FAH)
    • Fructose bisphosphatase deficiency (FBP1)
    • Fucosidosis (FUCA1)
    • G6PC1-related glycogen storage disease (G6PC)
    • GAA-related glycogen storage disease (GAA)
    • Krabbe disease (GALC)
    • Galactose epimerase deficiency (GALE)
    • Mucopolysaccharidosis type 4 (GALNS)
    • Galactosemia (GALT)
    • Guanidinoacetate methyltransferase (GAMT) deficiency (GAMT)
    • Arginine: glycine amidinotransferase (AGAT) deficiency (GATM)
    • Glutaryl-CoA dehydrogenase deficiency (GCDH)
    • Fabry disease (GLA)
    • Mucopolysaccharidosis type IVB (Morquio) (GLB1)
    • Glycine N-methyltransferase deficiency (GNMT)
    • Mucopolysaccharidosis type 7 (GUSB)
    • Glycogen storage disease 0 (GYS2)
    • 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH)
    • Trifunctional protein deficiency; (HADHA)
    • Long chain hydroxyacyl-CoA dehydrogenase deficiency (HADHA)
    • Mitochondrial trifunctional protein deficiency (HADHB)
    • Methylmalonic acidemia and homocysteinemia, cblX type (HCFC1)
    • 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCH)
    • Holocarboxylase synthetase deficiency (HLCS)
    • HMG-CoA lyase deficiency (HMGCL)
    • HMG-CoA synthase-2 deficiency (HMGCS2)
    • Tyrosinemia (HPD)
    • D-bifunctional protein deficiency (HSD17B4)
    • Mucopolysaccharidosis type 2 (IDS)
    • Mucopolysaccharidosis type 1 (IDUA)
    • Isovaleric acidemia (IVD)
    • Pyruvate dehydrogenase lipoic acid synthetase deficiency (LIAS)
    • Cholesteryl ester storage disease (LIPA)
    • Methylmalonic aciduria and homocystinuria, cblF type 2 (LMBRD1)
    • Mannosidosis, alpha-, types I and II (MAN2B1)
    • methionine adenosyltransferase I/III deficiency (MAT1A)
    • 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1)
    • 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2)
    • methylmalonyl-CoA epimerase deficiency (MCEE)
    • Malonyl-CoA decarboxylase deficiency (MLYCD)
    • Methylmalonic aciduria (MMAA)
    • Methylmalonic aciduria, cblB type (MMAB)
    • Methylmalonic aciduria and homocystinuria, cblC type (MMACHC)
    • Homocystinuria, cblD type (MMADHC)
    • Methylmalonic aciduria (MMUT)
    • Molybdenum cofactor deficiency (MOCS1)
    • Congenital disorder of glycosylation 1b (MPI)
    • MTHFR deficiency (MTHFR)
    • methylcobalamin deficiency, cblG type (MTR)
    • Methionine synthase reductase deficiency, cbl E type (MTRR)
    • Abetalipoproteinemia (MTTP)
    • Hyperimmunoglobulin D and periodic fever syndrome (MVK)
    • N-acetylglutamate synthase deficiency (NAGS)
    • Niemann-Pick Disease, types C1 and D (NPC1)
    • Niemann-Pick Disease, type C2 (NPC2)
    • Ornithine transcarbamylase deficiency (OTC)
    • Succinyl CoA:3-oxoacid CoA transferase deficiency (OXCT1)
    • Phenylketonuria (PAH)
    • Pyruvate carboxylase deficiency (PC)
    • BH4-deficient hyperphenylalaninemia (PCBD1)
    • Propionic acidemia (PCCA)
    • Propionic acidemia (PCCB)
    • Phosphoglycerate dehydrogenase deficiency; PHGDHD (PHGDH)
    • Phosphorylase kinase deficiency (PHKB)
    • Liver Phosphorylase Kinase Deficiency / Glycogen Storage Disease IXC (GSD9C) (PHKG2)
    • Pyridoxamine 5′-phosphate oxidase deficiency (PNPO)
    • Methylmalonic aciduria and homocystinuria, cblC type, epigenic (PRDX1)
    • BH4-deficient hyperphenylalaninemia (PTS)
    • Glycogen Storage Disease VI (PYGL)
    • BH4-deficient hyperphenylalaninemia (QDPR)
    • Sucrase-isomaltase deficiency, congenital (SI)
    • Primary/systemic carnitine deficiency (SLC22A5)
    • Citrullinemia (SLC25A13)
    • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (SLC25A15)
    • Carnitine-acylcarnitine translocase deficiency (SLC25A20)
    • SLC37A4-related glycogen storage disease 1 (SLC37A4)
    • Acrodermatitis enteropathica zinc-deficiency type 1 (SLC39A4)
    • Riboflavin transporter deficiency (SLC52A2)
    • Riboflavin transporter deficiency (SLC52A3)
    • Glucose/galactose malabsorption; GGM (SLC5A1)
    • Creatine deficiency syndrome, X-linked (SLC6A8)
    • Lysinuric protein intolerance (SLC7A7)
    • Niemann-Pick disease, type A (SMPD1)
    • Tyrosinemia (TAT)
    • Transcobalamin II deficiency (TCN2)
    • Ceroid lipofuscinosis (TPP1)
    • Orotic aciduria (UMPS)
    • Bile acid synthesis defect, congenital, 2 (AKR1D1)
    • Adenine phosphoribosyltransferase deficiency (APRT)
    • 3 beta-hydroxysteroid dehydrogenase deficiency (HSD3B7)
    • ADA-related adenosine deaminase deficiency (ADA)
    • Immunodeficiency with hyper-IgM, type 2 (AICDA)
    • AK2-related reticular dysgenesis (AK2)
    • Agammaglobulinemia 4 (BLNK)
    • Agammaglobulinemia, X-linked 1 (BTK)
    • Complement component 5 deficiency (C5)
    • Complement component 6 deficiency (C6)
    • Complement component 7 deficiency (C7)
    • Complement component 8 deficiency, type I (C8a)
    • Complement component 8 deficiency, type II (C8b)
    • Complement component 9 deficiency (C9)
    • Immunodeficiency 11 (CARD11)
    • Immunodeficiency due to defect in CD3-zeta (CD247)
    • Lymphoproliferative syndrome 2 (CD27)
    • Immunodeficiency 19 (CD3D)
    • Immunodeficiency 18 (CD3E)
    • Immunodeficiency 17, CD3 gamma deficient (CD3G)
    • Immunodeficiency with hyper-IgM, type 3 (CD40)
    • Immunodeficiency, X-linked, with hyper-IgM (CD40LG)
    • Agammaglobulinemia 3 (CD79A)
    • Agammaglobulinemia 6 (CD79B)
    • Specific Granule Deficiency (CEBPE)
    • Complement factor D deficiency (CFD)
    • Properdin deficiency, X linked (CFP)
    • Bare lymphocyte syndrome, type II, complementation group A (CIITA)
    • Immunodeficiency 8 (CORO1A)
    • Neutrophilia, hereditary (CSF3R)
    • Immunodeficiency 24 (CTPS1)
    • Chronic granulomatous disease (CYBB)
    • DCLRE1C-related immunodeficiency (DCLRE1C)
    • Immunodeficiency 40 AR (DOCK2)
    • Hyper-IgE recurrent infection syndrome, autosomal recessive (DOCK8)
    • Neutropenia, severe congenital 1; neutropenia, cyclic (ELANE)
    • Leukocyte adhesion deficiency, type III (FERMT3)
    • Congenital alopecia with T-cell immunodeficiency (FOXN1)
    • Neutropenia, congenital (G6PC3)
    • Neutropenia, severe congenital, type III (HAX1)
    • Immunodeficiency 27B; immunodeficiency 27A (IFNGR1)
    • Immunodeficiency 28 (IFNGR2)
    • Immunodeficiency 15 (IKBKB)
    • immunodeficiency 29 (IL12B)
    • Immunodeficiency 30 (IL12RB1)
    • Immunodeficiency, primary, autosomal recessive, IL21R-related (IL21R)
    • Immunodeficiency 41 with lymphoproliferation and autoimmunity (IL2RA)
    • Immunodeficiency 63 with lymphoproliferation and autoimmunity; IMD63 (IL2RB)
    • Combined immunodeficiency (IL2RG)
    • Hyper-IgE recurrent infection syndrome 4B, autosomal recessive (IL6ST)
    • Immunodeficiency 104, severe combined (IL7R)
    • IRAK4 deficiency (IRAK4)
    • Immunodeficiency 32B (IRF8)
    • Leukocyte adhesion deficiency, type I (ITGB2)
    • Lymphoproliferative syndrome 1 (ITK)
    • Neutropenia, severe congenital 6 (JAGN1)
    • Severe combined immunodeficiency (JAK3)
    • Immunodeficiency 96 (LIG1)
    • LIG4 syndrome (LIG4)
    • Immunodeficiency 54 (MCM4)
    • Severe combined immunodeficiency AR (MTHFD1)
    • Immunodeficiency 68 (MYD88)
    • Chronic granulomatous disease (NCF2)
    • Ectodermal dysplasia and immunodeficiency 2 (NFKBIA)
    • Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation (NHEJ1)
    • Immunodeficiency 9 (ORAI1)
    • Immunodeficiency 23 (PGM3)
    • Plasminogen deficiency (PLG)
    • Immunodeficiency due to purine nucleoside phosphorylase deficiency (PNP)
    • Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
    • Immunodeficiency 26 (PRKDC)
    • Neutrophil immunodeficiency syndrome (RAC2)
    • Immune dysregulation (RAG1)
    • Immune dysregulation (RAG2)
    • Bare lymphocyte syndrome, type II (RFX5)
    • Bare lymphocyte syndrome, type II (RFXANK)
    • Bare lymphocyte syndrome, type II (RFXAP)
    • Asplenia, congenital AD (RPSA)
    • Lymphoproliferative syndrome, X-linked (SH2D1A)
    • Agammaglobulinemia 9 (SLC39A7)
    • Hepatic venoocclusive disease with immunodeficiency (SP110)
    • Neutropenia, severe congenital, 8, autosomal dominant; SCN8 (SRP54)
    • Immunodeficiency 31A; Immunodeficiency 3 1C; Immunodeficiency 31B (STAT1)
    • Hyper-IgE recurrent infection syndrome (STAT3)
    • Immunodeficiency 10 (STIM1)
    • T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations (STK4)
    • Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
    • Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
    • Bare lymphocyte syndrome, type I (TAP1)
    • Immunodeficiency, combined, with intestinal atresias (TTC7A)
    • Immunodeficiency 35 (TYK2)
    • Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
    • immunodeficiency with hyper-IgM, type 5 (UNG)
    • Neutropenia, neutrophil dysfunction, bone marrow fibrosis, and nephromegaly (VPS45)
    • Wiskott-Aldrich syndrome (WAS)
    • WAS-related neutropenia (WAS)
    • Wiskott-Aldrich syndrome 2 (WIPF1)
    • Lymphoproliferative syndrome, X-linked 2 (XIAP)
    • Immunodeficiency 48 (ZAP70)
    • KCNH2-related short QT syndrome (KCNH2)
    • KCNH2-related long QT syndrome (KCNH2)
    • Jervell and Lange-Nielsen syndrome; (KCNQ1)
    • KCNQ1-related long QT syndrome (KCNQ1)
    • NKX2-5-related heart defect (NKX2-5)
    • APOB-related hyperlipoproteinemia (APOB)
    • Familial hypercholesterolemia (LDLR)
    • Familial hypercholesterolemia (PCSK9)
    • Congenital myasthenic syndrome (CHAT)
    • Congenital myasthenic syndrome (CHRNA1)
    • Congenital myasthenic syndrome (CHRND)
    • Congenital myasthenic syndrome (CHRNE)
    • Congenital myasthenic syndrome (COL13A1)
    • Congenital myasthenic syndrome (COLQ)
    • Duchenne muscular dystrophy (DMD)
    • Congenital myasthenic syndrome (DOK7)
    • Dopa-responsive dystonia (GCH1)
    • Congenital myasthenic syndrome (MUSK)
    • NKX2-1-related movement disorder (NKX2-1)
    • Congenital myasthenic syndrome (RAPSN)
    • AGXT-related primary hyperoxaluria (AGXT)
    • AQP2-related nephrogenic diabetes insipidus (AQP2)
    • Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss (ATP6V0A4)
    • ATP6V1B1-related renal tubular acidosis with hearing loss (ATP6V1B1)
    • AVPR2-related nephrogenic diabetes insipidus; (AVPR2)
    • AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (AVPR2)
    • Bartter syndrome with sensorineural deafness (BSND)
    • Bartter syndrome, type 3 (CLCNKB)
    • Hyperoxaluria, primary, type II (GRHPR)
    • Bartter syndrome (KCNJ1)
    • Congenital nephrotic syndrome, Finnish type (NPHS1)
    • Bartter syndrome (SLC12A1)
    • Gitelman syndrome (SLC12A3)
    • DUOXA2-related hypothyroidism (DUOXA2)
    • Combined pituitary hormone deficiency (FOXA2)
    • Congenital Isolated Hyperinsulinism (FOXA2)
    • Bamforth-Lazarus syndrome (FOXE1)
    • Diabetes mellitus, neonatal, with congenital hypothyroidism (GLIS3)
    • Apparent mineralocorticoid excess (HSD11B2)
    • Leptin deficiency (LEP)
    • Leptin receptor deficiency (LEPR)
    • Combined pituitary hormone deficiency-3 (LHX3)
    • Pituitary hormone deficiency, combined, 4; CPHD4 (LHX4)
    • Glucocorticoid deficiency 1 (MC2R)
    • Glucocorticoid deficiency 2; GCCD2 (MRAP)
    • NKX2-5-related congenital hypothyroidism (NKX2-5)
    • Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (NNT)
    • Congenital adrenal hypoplasia (NR0B1)
    • Pseudohypoaldosteronism, type I, autosomal dominant (NR3C2)
    • PAX8-related hypothyroidism (PAX8)
    • Combined pituitary hormone deficiency-1 (POU1F1)
    • Combined pituitary hormone deficiency-2 (PROP1)
    • SLC5A5-related hypothyroidism (SLC5A5)
    • TG-related hypothyroidism (TG)
    • TPO-related hypothyroidism (TPO)
    • TSHR-related congenital hypothyroidism (TSHR)
    • ALPL-related hypophosphatasia (ALPL)
    • Osteopetrosis, AR 3, with renal tubular acidosis (CA2)
    • Osteopetrosis, autosomal dominant 2; osteopetrosis, autosomal recessive 4 (CLCN7)
    • FGFR3-related skeletal dysplasia (FGFR3)
    • Hypophosphatemic rickets (PHEX)
    • Familial expansile osteolysis (TNFRSF11A)
    • Vitamin D-dependent rickets (VDR)
    • Diarrhea 7, protein-losing enteropathy type (DGAT1)
    • Diarrhea 4, malabsorptive, congenital (NEUROG3)
    • Chloride diarrhea, congenital, Finnish type (SLC26A3)
    • ALDH7A1-related pyridoxine-dependent epilepsy (ALDH7A1)
    • ATP7B-related Wilson disease (ATP7B)
    • Cystic fibrosis (CFTR)
    • Gyrate atrophy of the choroid and retina (OAT)
    • RPE65-related retinal dystrophy (RPE65)
    • ACTG1-related nonsyndromic hearing loss (ACTG1)
    • SLC26A4-related hearing loss (SLC26A4)
    • Retinoblastoma (RB1)
    • Multiple endocrine neoplasia IIA / Multiple endocrine neoplasia IIB (RET)
    • Megaloblastic anemia-1, Norwegian type (AMN)
    • Intrinsic factor deficiency; IFD (CBLIF)
    • Megaloblastic anemia-1, Finnish type (CUBN)
    • Factor XIIIA deficiency (F13A1)
    • Factor XIIIB deficiency (F13B)
    • Hemophilia A (F8)
    • Hemophilia B (F9)
    • Afibrinogenemia (FGA)
    • Afibrinogenemia (FGG)
    • glucose-6-phosphate dehydrogenase deficiency (G6PD)
    • Vitamin K-dependent coagulation defect (GGCX)
    • Sickle cell disease (HBB)
    • Amegakaryocytic thrombocytopenia, congenital (MPL)
    • Bone marrow failure syndrome 4 (MYSM1)
    • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (SLC25A38)
    • Folate malabsorption, hereditary (SLC46A1)
    • ATP7A-related disorders (ATP7A)
    • Hyperekplexia, hereditary 1, autosomal dominant or recessive (GLRA1)
    • Hyperekplexia 2 (GLRB)
    • GLUT1 deficiency (SLC2A1)
    • Hyperekplexia 3 (SLC6A5)
    • Spinal muscular atrophy (SMN1)
    • Sepiapterin reductase deficiency (SPR)