List of monogenic disorders and their associated genes(Heterogeneity and
Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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 |
| 341 | Intellectual disability, X-linked, syndromic, Houge type X-linked recessive |
Neurodevelopmental disorders |
CNKSR2 connector enhancer of kinase suppressor of Ras 2 |
Reports Updated as of Aug 17, 2026 |
PubMed |
| 342 | Interstitial cystitis |
Nephrological disorders |
TP53 tumor protein p53 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 343 | Isovaleryl-CoA dehydrogenase deficiency Autosomal recessive |
Metabolic disorders |
IVD isovaleryl-CoA dehydrogenase |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 344 | Johanson-Blizzard syndrome Autosomal recessive |
Developmental / Multisystemic disorders |
UBR1 ubiquitin protein ligase E3 component n-recognin 1 |
Reports Updated as of May 24, 2023 |
PubMed |
| 345 | Juvenile retinoschisis X-linked dominant |
Eye disorders |
RS1 retinoschisin 1 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 346 | Karyomegalic interstitial nephritis Autosomal recessive |
Nephrological disorders |
FAN1 FANCD2 and FANCI associated nuclease 1 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 347 | Kearns-Sayre syndrome Autosomal recessive, MT inheritance |
Metabolic disorders |
MT-TY mitochondrially encoded tRNA tyrosine |
Reports Updated as of May 24, 2023 |
PubMed |
| 348 | Kennedy disease X-linked recessive |
Neuromuscular disorders |
AR androgen receptor |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 349 | Kindler syndrome Autosomal recessive |
Skin disorders |
FERMT1 FERM domain containing kindlin 1 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| 350 | Klippel-Feil syndrome 2, autosomal recessive Autosomal recessive |
Bone disorders |
MEOX1 mesenchyme homeobox 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |