Table 1.
Syndromes and genes with more than one reported NIHF cases and (*) associated genes with only 1 reported case. Abbreviations: Mito (Mitochondrial); Sterol (Sterol Biosynthesis Disorder); CDG (Congenital Disorder of Glycosylation); LSD (Lysosomal Storage Disease)
| Type | Condition | Gene | |
|---|---|---|---|
| Syndromic | Aicardi–Goutieres syndrome | RNASEH2B | |
| Alkuraya-Kucinskas syndrome | KIAA1109 | ||
| Cornelia de Lange syndrome | NIPBL | ||
| RASopathies / Noonan syndrome | PTPN11 | ||
| RAF1 | |||
| RIT1 | |||
| SHOC2 | |||
| CBL | |||
| BRAF | |||
| MAP2K1 | |||
| SOS1 | |||
| HRAS | |||
| NRAS | |||
| LZTR1 | |||
| Kabuki Syndrome | KMT2D | ||
| Baraitser-Winter syndrome | ACTB | ||
| Takenouchi-Kosaki Syndrome | CDC42 | ||
| Fraser syndrome | FRAS1 | ||
| GRIP1* | |||
| Pierson syndrome | LAMB2 | ||
| Cardiovascular | Timothy syndrome | CACNA1C | |
| Left ventricular noncompaction | MYH7 | ||
| Generalized Arterial Calcification of Infancy | ENPP1 | ||
| ABCC6* | |||
| Congenital long-QT syndrome | KCNH2 | ||
| SCN5A | |||
| X-linked Cardiac valvular dysplasia | FLNA | ||
| NIHF with Congenital Cardiac and Hemangiomas | THSD1 | ||
| Left ventricular noncompaction | MYBPC3 | ||
| Familial Hypertrophic Cardiomyopathy | ALPK3 | ||
| Inborn Errors of Metabolism | LSD | Mucopolysaccharidosis I | IDUA |
| Mucolipidosis II | GNPTAB | ||
| Mucopolysaccharidosis IV | GALNS | ||
| Mucopolysaccharidosis VII | GUSB | ||
| Niemann Pick Type A | SMPD1 | ||
| Niemann Pick Type C | NPC1 | ||
| Farber lipogranulomatosis | ASAH1 | ||
| GM1 gangliosidosis | GLB1 | ||
| Galactosialidosis | CTSA | ||
| Sialidosis | NEU1 | ||
| Infantile Sialic acid storage diseases | SLC17A5 | ||
| Gaucher disease, perinatal lethal | GBA | ||
| Multiple sulfatase deficiency | SUMF1 | ||
| CDG | PMM2-CDG | PMM2 | |
| ALG1-CDG | ALG1 | ||
| ALG8-CDG | ALG8 | ||
| ALG9-CDG | ALG9 | ||
| MGAT2-CDG | MGAT2 | ||
| Sterol | Mevalonic aciduria | MVK | |
| Greenberg skeletal dysplasia | LBR | ||
| X-Linked Chondrodysplasia Punctata | EBP | ||
| Mito | Combined oxidative phosphorylation deficiency | MRPS22 | |
| AARS2 | |||
| Barth syndrome | TAZ | ||
| Complex I deficiency | NDUFB10 | ||
| Mitochondrial tRNA deficiency | MT-TE | ||
| MT-TL1 | |||
| NIHF, lactic acidosis, sideroblastic anemia | LARS2 | ||
| Other | LCHAD/Trifunctional protein deficiency | HADHA | |
| HADHB | |||
| Hypermethioninemia | AHCY | ||
| Glycogen storage disease type IV | GBE1 | ||
| Sphingosine-1-phosphate lyase deficiency | SGPL1 | ||
| Abnormal Growths | Tuberous Sclerosis Complex | TSC2 | |
| Capillary malformation-AV malformation | RASA1 | ||
| CLOVES Syndrome | PIK3CA | ||
| Plaque-Type Glomuvenous Malformations | GLMN | ||
| Hematologic | Anemias | Alpha-thalassemia | HBA1 |
| HBA2 | |||
| Hereditary spherocytosis | SLC4A1 | ||
| Hereditary spherocytosis/elliptocytosis | SPTA1 | ||
| SPTB | |||
| Congenital dyserythropoietic anemia | CDAN1 | ||
| SEC23B | |||
| KLF1 | |||
| GATA1-Related X-Linked Cytopenia | GATA1 | ||
| Familial Hemophagocytic Lymphohistiocytosis | PRF1 | ||
| UNC13D* | |||
| Diamond–Blackfan anemia | RPL11* | ||
| RPL35A* | |||
| RPL15 | |||
| RPS19 | |||
| Metabolic | Glucose-6-phosphate dehydrogenase deficiency | G6PD | |
| Transaldolase deficiency | TALDO1 | ||
| Congenital Erythropoietic Porphyria | UROS | ||
| Pyruvate kinase deficiency | PKLR | ||
| Glucose phosphate isomerase deficiency | GPI | ||
| Lymphatic | Hereditary lymphedema type IA | FLT4 | |
| Hennekam lymphangiectasia-lymphedema syndrome | CCBE1 | ||
| ADAMTS3* | |||
| Lymphatic Malformation / Dehydrated hereditary stomatocytosis | PIEZO1 | ||
| Lymphatic Malformation 7 | EPHB4 | ||
| Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | SOX18 | ||
| Lymphedema-distichiasis syndrome | FOXC2 | ||
| Skeletal | Chondrodysplasia, Blomstrand type | PTH1R | |
| Achondrogenesis | COL2A1 | ||
| SLC26A2 | |||
| Desbuquois dysplasia 1 | CANT1 | ||
| Cranioectodermal dysplasia-1, Sensenbrenner | IFT122 | ||
| Achondrogenesis type IA, Schneckenbecken | SLC35D1 | ||
| Opsismodysplasia | INPPL1 | ||
| Congenital chylothorax | ITGA9 | ||
| Short rib-polydactyly syndrome with or without polydactyly | DYNC2H1 | ||
| IFT80 | |||
| NEK1* | |||
| WDR35* | |||
| KIAA0586* | |||
| Neuromuscular | Multiple Contracture Syndrome, Finnish Type | GLE1 | |
| Lethal multiple pterygium syndrome | RYR1 | ||
| CHRNG | |||
| CHRNA1 | |||
| CHRND | |||
| Fetal akinesia deformation sequence | RAPSN | ||
| DOK7 | |||
| MUSK | |||
| Spinal Muscular Atrophy (SMA) | SMN1 | ||
| SMN2 | |||
| SMA, lower extremity-predominant | BICD2 | ||
| SMA with congenital bone fractures | ASCC1 | ||
| Nemaline myopathy | NEB | ||
| TPM2* | |||
| ACTA1 | |||
| LMOD3* | |||
| KLHL40* | |||
| Cerebro-oculofacioskeletal syndrome | ERCC5 | ||
| Myotonic dystrophy 1 | DMPK | ||
| Other | Congenital adrenal hyperplasia | CYP21A2 | |
| FZD6-associated hydrops | FZD6 | ||
| SERPINA11-prenatal lethal disorder | SERPINA11 | ||
| IPEX syndrome | FOXP3 | ||
| Incontinentia pigmenti | IKBKG | ||