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)
    • ACTG1-related nonsyndromic hearing loss (ACTG1)
    • ADA-related adenosine deaminase deficiency (ADA)
    • Glycogen Storage Disease III (AGL)
    • AGXT-related primary hyperoxaluria (AGXT)
    • AHCY-related S-adenosylhomocysteine hydrolase deficiency (AHCY)
    • Immunodeficiency with hyper-IgM, type 2 (AICDA)
    • AK2-related reticular dysgenesis (AK2)
    • Bile acid synthesis defect, congenital, 2 (AKR1D1)
    • ALDH4A1-related hyperprolinemia (ALDH4A1)
    • ALDH7A1-related pyridoxine-dependent epilepsy (ALDH7A1)
    • ALDOB-related hereditary fructose intolerance (ALDOB)
    • ALPL-related hypophosphatasia (ALPL)
    • Megaloblastic anemia-1, Norwegian type (AMN)
    • APOB-related hyperlipoproteinemia (APOB)
    • Adenine phosphoribosyltransferase deficiency (APRT)
    • AQP2-related nephrogenic diabetes insipidus (AQP2)
    • 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)
    • Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss (ATP6V0A4)
    • ATP6V1B1-related renal tubular acidosis with hearing loss (ATP6V1B1)
    • ATP7A-related disorders (ATP7A)
    • ATP7B-related Wilson disease (ATP7B)
    • AUH-related 3-methylglutaconic aciduria (AUH)
    • AVPR2-related nephrogenic diabetes insipidus; (AVPR2)
    • AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (AVPR2)
    • maple syrup urine disease (BCKDHA)
    • maple syrup urine disease (BCKDHB)
    • Agammaglobulinemia 4 (BLNK)
    • Bartter syndrome with sensorineural deafness (BSND)
    • BTD-related biotinidase deficiency 2 (BTD)
    • 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)
    • Osteopetrosis, AR 3, with renal tubular acidosis (CA2)
    • Carbonic anhydrase Va deficiency, hyperammonemia due to CA5AD (CA5A)
    • Immunodeficiency 11 (CARD11)
    • Intrinsic factor deficiency; IFD (CBLIF)
    • Homocystinuria, B6-responsive and nonresponsive types (CBS)
    • 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)
    • Cystic fibrosis (CFTR)
    • Congenital myasthenic syndrome (CHAT)
    • Congenital myasthenic syndrome (CHRNA1)
    • Congenital myasthenic syndrome (CHRND)
    • Congenital myasthenic syndrome (CHRNE)
    • Bare lymphocyte syndrome, type II, complementation group A (CIITA)
    • Osteopetrosis, autosomal dominant 2; osteopetrosis, autosomal recessive 4 (CLCN7)
    • Bartter syndrome, type 3 (CLCNKB)
    • Congenital myasthenic syndrome (COL13A1)
    • Congenital myasthenic syndrome (COLQ)
    • Coenzyme Q10 deficiency, primary, 6 (COQ6)
    • Immunodeficiency 8 (CORO1A)
    • Carbamoylphosphate synthetase I deficiency (CPS1)
    • Carnitine palmitoyltransferase 1A deficiency (CPT1A)
    • Carnitine palmitoyltransferase deficiency (CPT2)
    • Neutrophilia, hereditary (CSF3R)
    • Cystinosis (CTNS)
    • Immunodeficiency 24 (CTPS1)
    • Megaloblastic anemia-1, Finnish type (CUBN)
    • Chronic granulomatous disease (CYBB)
    • Cerebrotendinous xanthomatosis (CYP27A1)
    • Maple syrup urine disease (DBT)
    • DCLRE1C-related immunodeficiency (DCLRE1C)
    • Aromatic L-amino acid decarboxylase deficiency (DDC)
    • Diarrhea 7, protein-losing enteropathy type (DGAT1)
    • Duchenne muscular dystrophy (DMD)
    • Immunodeficiency 40 AR (DOCK2)
    • Hyper-IgE recurrent infection syndrome, autosomal recessive (DOCK8)
    • Congenital myasthenic syndrome (DOK7)
    • DUOXA2-related hypothyroidism (DUOXA2)
    • Neutropenia, severe congenital 1; neutropenia, cyclic (ELANE)
    • Multiple acyl-CoA dehydrogenase deficiency (ETFA)
    • Multiple acyl-CoA dehydrogenase deficiency (ETFB)
    • Multiple acyl-CoA dehydrogenase deficiency (ETFDH)
    • Shwachman-Bodian-Diamond syndrome (F13A1)
    • Factor XIIIB deficiency (F13B)
    • Hemophilia A (F8)
    • Hemophilia B (F9)
    • Tyrosinemia (FAH)
    • Fructose bisphosphatase deficiency (FBP1)
    • Leukocyte adhesion deficiency, type III (FERMT3)
    • Afibrinogenemia (FGA)
    • FGFR3-related skeletal dysplasia (FGFR3)
    • Afibrinogenemia (FGG)
    • Combined pituitary hormone deficiency (FOXA2)
    • Congenital Isolated Hyperinsulinism (FOXA2)
    • Bamforth-Lazarus syndrome (FOXE1)
    • Congenital alopecia with T-cell immunodeficiency (FOXN1)
    • Fucosidosis (FUCA1)
    • G6PC1-related glycogen storage disease (G6PC)
    • Neutropenia, congenital (G6PC3)
    • glucose-6-phosphate dehydrogenase deficiency (G6PD)
    • 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)
    • Dopa-responsive dystonia (GCH1)
    • Vitamin K-dependent coagulation defect (GGCX)
    • Fabry disease (GLA)
    • Mucopolysaccharidosis type IVB (Morquio) (GLB1)
    • Diabetes mellitus, neonatal, with congenital hypothyroidism (GLIS3)
    • Hyperekplexia, hereditary 1, autosomal dominant or recessive (GLRA1)
    • Hyperekplexia 2 (GLRB)
    • Glycine N-methyltransferase deficiency (GNMT)
    • Hyperoxaluria, primary, type II (GRHPR)
    • 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)
    • Neutropenia, severe congenital, type III (HAX1)
    • Sickle cell disease (HBB)
    • 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)
    • Apparent mineralocorticoid excess (HSD11B2)
    • D-bifunctional protein deficiency (HSD17B4)
    • 3 beta-hydroxysteroid dehydrogenase deficiency (HSD3B7)
    • Mucopolysaccharidosis type 2 (IDS)
    • Mucopolysaccharidosis type 1 (IDUA)
    • 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)
    • Isovaleric acidemia (IVD)
    • Neutropenia, severe congenital 6 (JAGN1)
    • Severe combined immunodeficiency (JAK3)
    • KCNH2-related short QT syndrome (KCNH2)
    • KCNH2-related long QT syndrome (KCNH2)
    • Bartter syndrome (KCNJ1)
    • Jervell and Lange-Nielsen syndrome; (KCNQ1)
    • KCNQ1-related long QT syndrome (KCNQ1)
    • Familial hypercholesterolemia (LDLR)
    • Leptin deficiency (LEP)
    • Leptin receptor deficiency (LEPR)
    • Combined pituitary hormone deficiency-3 (LHX3)
    • Pituitary hormone deficiency, combined, 4; CPHD4 (LHX4)
    • Pyruvate dehydrogenase lipoic acid synthetase deficiency (LIAS)
    • Immunodeficiency 96 (LIG1)
    • LIG4 syndrome (LIG4)
    • 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)
    • Glucocorticoid deficiency 1 (MC2R)
    • 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1)
    • 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2)
    • methylmalonyl-CoA epimerase deficiency (MCEE)
    • Immunodeficiency 54 (MCM4)
    • 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)
    • Amegakaryocytic thrombocytopenia, congenital (MPL)
    • Glucocorticoid deficiency 2; GCCD2 (MRAP)
    • Severe combined immunodeficiency AR (MTHFD1)
    • MTHFR deficiency (MTHFR)
    • methylcobalamin deficiency, cblG type (MTR)
    • Methionine synthase reductase deficiency, cbl E type (MTRR)
    • Abetalipoproteinemia (MTTP)
    • Congenital myasthenic syndrome (MUSK)
    • Hyperimmunoglobulin D and periodic fever syndrome (MVK)
    • Immunodeficiency 68 (MYD88)
    • Bone marrow failure syndrome 4 (MYSM1)
    • N-acetylglutamate synthase deficiency (NAGS)
    • Chronic granulomatous disease (NCF2)
    • Diarrhea 4, malabsorptive, congenital (NEUROG3)
    • Ectodermal dysplasia and immunodeficiency 2 (NFKBIA)
    • Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation (NHEJ1)
    • NKX2-1-related movement disorder (NKX2-1)
    • NKX2-5-related congenital hypothyroidism (NKX2-5)
    • NKX2-5-related heart defect (NKX2-5)
    • Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (NNT)
    • Niemann-Pick Disease, types C1 and D (NPC1)
    • Niemann-Pick Disease, type C2 (NPC2)
    • Congenital nephrotic syndrome, Finnish type (NPHS1)
    • Congenital adrenal hypoplasia (NR0B1)
    • Pseudohypoaldosteronism, type I, autosomal dominant (NR3C2)
    • Gyrate atrophy of the choroid and retina (OAT)
    • Immunodeficiency 9 (ORAI1)
    • Ornithine transcarbamylase deficiency (OTC)
    • OTOF-related hearing loss (OTOF)
    • Succinyl CoA:3-oxoacid CoA transferase deficiency (OXCT1)
    • Phenylketonuria (PAH)
    • PAX8-related hypothyroidism (PAX8)
    • Pyruvate carboxylase deficiency (PC)
    • BH4-deficient hyperphenylalaninemia (PCBD1)
    • Propionic acidemia (PCCA)
    • Propionic acidemia (PCCB)
    • Familial hypercholesterolemia (PCSK9)
    • Immunodeficiency 23 (PGM3)
    • Hypophosphatemic rickets (PHEX)
    • Phosphoglycerate dehydrogenase deficiency; PHGDHD (PHGDH)
    • Phosphorylase kinase deficiency (PHKB)
    • Liver Phosphorylase Kinase Deficiency / Glycogen Storage Disease IXC (GSD9C) (PHKG2)
    • Plasminogen deficiency (PLG)
    • Immunodeficiency due to purine nucleoside phosphorylase deficiency (PNP)
    • Pyridoxamine 5′-phosphate oxidase deficiency (PNPO)
    • Combined pituitary hormone deficiency-1 (POU1F1)
    • Methylmalonic aciduria and homocystinuria, cblC type, epigenic (PRDX1)
    • Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
    • Immunodeficiency 26 (PRKDC)
    • Combined pituitary hormone deficiency-2 (PROP1)
    • BH4-deficient hyperphenylalaninemia (PTS)
    • Glycogen Storage Disease VI (PYGL)
    • BH4-deficient hyperphenylalaninemia (QDPR)
    • Neutrophil immunodeficiency syndrome (RAC2)
    • Immune dysregulation (RAG1)
    • Immune dysregulation (RAG2)
    • Congenital myasthenic syndrome (RAPSN)
    • Retinoblastoma (RB1)
    • Multiple endocrine neoplasia IIA / Multiple endocrine neoplasia IIB (RET)
    • Bare lymphocyte syndrome, type II (RFX5)
    • Bare lymphocyte syndrome, type II (RFXANK)
    • Bare lymphocyte syndrome, type II (RFXAP)
    • RPE65-related retinal dystrophy (RPE65)
    • Asplenia, congenital AD (RPSA)
    • Factor XIIIA deficiency (SBDS)
    • Lymphoproliferative syndrome, X-linked (SH2D1A)
    • Sucrase-isomaltase deficiency, congenital (SI)
    • Bartter syndrome (SLC12A1)
    • Gitelman syndrome (SLC12A3)
    • Primary/systemic carnitine deficiency (SLC22A5)
    • Citrullinemia (SLC25A13)
    • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (SLC25A15)
    • Carnitine-acylcarnitine translocase deficiency (SLC25A20)
    • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (SLC25A38)
    • Chloride diarrhea, congenital, Finnish type (SLC26A3)
    • SLC26A4-related hearing loss (SLC26A4)
    • GLUT1 deficiency (SLC2A1)
    • SLC37A4-related glycogen storage disease 1 (SLC37A4)
    • Acrodermatitis enteropathica zinc-deficiency type 1 (SLC39A4)
    • Agammaglobulinemia 9 (SLC39A7)
    • Folate malabsorption, hereditary (SLC46A1)
    • Riboflavin transporter deficiency (SLC52A2)
    • Riboflavin transporter deficiency (SLC52A3)
    • Glucose/galactose malabsorption; GGM (SLC5A1)
    • SLC5A5-related hypothyroidism (SLC5A5)
    • Hyperekplexia 3 (SLC6A5)
    • Creatine deficiency syndrome, X-linked (SLC6A8)
    • Lysinuric protein intolerance (SLC7A7)
    • Spinal muscular atrophy (SMN1)
    • Niemann-Pick disease, type A (SMPD1)
    • Hepatic venoocclusive disease with immunodeficiency (SP110)
    • Sepiapterin reductase deficiency (SPR)
    • 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, 4 (STX11)
    • Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
    • Bare lymphocyte syndrome, type I (TAP1)
    • Tyrosinemia (TAT)
    • Transcobalamin II deficiency (TCN2)
    • TG-related hypothyroidism (TG)
    • Familial expansile osteolysis (TNFRSF11A)
    • TPO-related hypothyroidism (TPO)
    • Ceroid lipofuscinosis (TPP1)
    • TSHR-related congenital hypothyroidism (TSHR)
    • Immunodeficiency, combined, with intestinal atresias (TTC7A)
    • Immunodeficiency 35 (TYK2)
    • Orotic aciduria (UMPS)
    • Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
    • immunodeficiency with hyper-IgM, type 5 (UNG)
    • Vitamin D-dependent rickets (VDR)
    • 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)