GenTIGS

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
71	Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive	Neuromuscular disorders	CAPN3 calpain 3	Reports Updated as of Feb 26, 2025	PubMed
72	Autosomal recessive osteopetrosis 1 Autosomal recessive	Bone disorders	TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	Reports Updated as of Jul 20, 2024	PubMed
73	Autosomal recessive osteopetrosis 4 Autosomal recessive	Bone disorders	CLCN7 chloride voltage-gated channel 7	Reports Updated as of Mar 30, 2026	PubMed
74	Autosomal recessive osteopetrosis 8 Autosomal recessive	Bone disorders	SNX10 sorting nexin 10	Reports Updated as of Jul 20, 2024	PubMed
75	Autosomal recessive Robinow syndrome Autosomal recessive	Bone disorders	ROR2 receptor tyrosine kinase like orphan receptor 2	Reports Updated as of Mar 09, 2023	PubMed
76	Autosomal recessive spinocerebellar ataxia 17 Autosomal recessive	Neurodegenerative disorders	CWF19L1 CWF19 like cell cycle control factor 1	Reports Updated as of Mar 30, 2026	PubMed
77	Bamforth-Lazarus syndrome Autosomal recessive	Endocrine disorders	FOXE1 forkhead box E1	Reports Updated as of Feb 01, 2024	PubMed
78	Bannayan-Riley-Ruvalcaba syndrome Autosomal dominant	Cancer disorders	PTEN phosphatase and tensin homolog	Reports Updated as of Mar 09, 2023	PubMed
79	Bartsocas-Papas syndrome 1 Autosomal recessive	Skin disorders	RIPK4 receptor interacting serine/threonine kinase 4	Reports Updated as of Aug 17, 2026	PubMed
80	Bartter disease type 2 Autosomal recessive	Nephrological disorders	KCNJ1 potassium inwardly rectifying channel subfamily J member 1	Reports Updated as of Jul 20, 2024	PubMed

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