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 (Gentigs update) Modes of inheritance |
Category | Gene symbol | Links | Indian context |
41 | Autosomal recessive congenital ichthyosis 4B (Dec 07, 2023) Autosomal recessive |
Skin disorders |
ABCA12 ATP binding cassette subfamily A member 12 |
PubMed | Reports |
42 | Autosomal recessive osteopetrosis 1 (Jul 20, 2024) Autosomal recessive |
Bone disorders |
TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
PubMed | Reports |
43 | Autosomal recessive osteopetrosis 8 (Jul 20, 2024) Autosomal recessive |
Bone disorders |
SNX10 sorting nexin 10 |
PubMed | Reports |
44 | Autosomal recessive Robinow syndrome (Mar 09, 2023) Autosomal recessive |
Bone disorders |
ROR2 receptor tyrosine kinase like orphan receptor 2 |
PubMed | Reports |
45 | Bamforth-Lazarus syndrome (Feb 01, 2024) Autosomal recessive |
Endocrine disorders |
FOXE1 forkhead box E1 |
PubMed | Reports |
46 | Bannayan-Riley-Ruvalcaba syndrome (Mar 09, 2023) Autosomal dominant |
Cancer disorders |
PTEN phosphatase and tensin homolog |
PubMed | Reports |
47 | Bartter disease type 2 (Jul 20, 2024) Autosomal recessive |
Nephrological disorders |
KCNJ1 potassium inwardly rectifying channel subfamily J member 1 |
PubMed | Reports |
48 | Bartter disease type 5 (Jul 20, 2024) X-linked dominant |
Nephrological disorders |
MAGED2 MAGE family member D2 |
PubMed | Reports |
49 | Becker nevus syndrome (Mar 09, 2023) Somatic mutation |
Skin disorders |
ACTB actin beta |
PubMed | Reports |
50 | BENTA disease (Mar 09, 2023) Autosomal dominant |
Immune disorders |
CARD11 caspase recruitment domain family member 11 |
PubMed | Reports |