List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.
View information by inheritance mode
| S.No. | Genetic Disorders Modes of inheritance |
Category | Gene symbol | Indian context |
Links |
| 121 | Hirschsprung disease Autosomal dominant, Autosomal recessive |
Gastrointestinal disorders |
PHOX2B paired like homeobox 2B ECE1 endothelin converting enzyme 1 RET ret proto-oncogene EDNRB endothelin receptor type B EDN3 endothelin 3 SOX10 SRY-box transcription factor 10 FBN1 fibrillin 1 IHH Indian hedgehog signaling molecule TBATA thymus, brain and testes associated NCLN nicalin NUP98 nucleoporin 98 and 96 precursor DENND3 DENN domain containing 3 GDNF glial cell derived neurotrophic factor |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 122 | Histiocytic medullary reticulosis Autosomal recessive |
Cancer disorders |
DCLRE1C DNA cross-link repair 1C RAG2 recombination activating 2 RAG1 recombination activating 1 IL7R interleukin 7 receptor |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 123 | Hurler syndrome Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
IDUA alpha-L-iduronidase PITX1 paired like homeodomain 1 |
Reports Updated as of May 24, 2023 |
PubMed |
| 124 | Hyper-IgE syndrome Autosomal dominant, Autosomal recessive |
Immune disorders |
STAT3 signal transducer and activator of transcription 3 PGM3 phosphoglucomutase 3 DOCK8 dedicator of cytokinesis 8 STAT6 signal transducer and activator of transcription 6 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 125 | Hyperkalemic periodic paralysis Autosomal dominant |
Metabolic disorders |
SCN4A sodium voltage-gated channel alpha subunit 4 CLCN1 chloride voltage-gated channel 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 126 | Hypertrophic osteoarthropathy Autosomal recessive |
Bone disorders |
HPGD 15-hydroxyprostaglandin dehydrogenase SLCO2A1 solute carrier organic anion transporter family member 2A1 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 127 | Hypokalemic periodic paralysis, type 1 Autosomal dominant |
Metabolic disorders |
CACNA1S calcium voltage-gated channel subunit alpha1 S CLCN1 chloride voltage-gated channel 1 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 128 | Immune thrombocytopenia Autosomal dominant |
Blood disorders |
FCGR2B Fc gamma receptor IIb FCGR2C Fc gamma receptor IIc (gene/pseudogene) |
Reports Updated as of May 24, 2023 |
PubMed |
| 129 | Infantile cortical hyperostosis Autosomal dominant |
Bone disorders |
COL1A1 collagen type I alpha 1 chain A4GALT alpha 1,4-galactosyltransferase (P1PK blood group) |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 130 | Intestinal hypomagnesemia 1 Autosomal recessive |
Metabolic disorders |
TRPM6 transient receptor potential cation channel subfamily M member 6 TRPM7 transient receptor potential cation channel subfamily M member 7 |
Reports Updated as of Jul 20, 2024 |
PubMed |