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
61	Arthrogryposis, renal dysfunction, and cholestasis 2 Autosomal recessive	Multisystemic disorders	VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	Reports Updated as of Feb 10, 2026	PubMed
62	Ataxia-telangiectasia syndrome Autosomal recessive	Neurodegenerative disorders	ATM ATM serine/threonine kinase	Reports Updated as of Sep 15, 2022	PubMed
63	Atransferrinemia Autosomal recessive	Metabolic disorders	TF transferrin	Reports Updated as of Jan 05, 2026	PubMed
64	Autoerythrocyte sensitization syndrome	Immune disorders	CRP C-reactive protein	Reports Updated as of Feb 20, 2024	PubMed
65	Autoinflammatory syndrome, familial, Behcet-like 1 Autosomal dominant	Immune disorders	TNFAIP3 TNF alpha induced protein 3	Reports Updated as of Jan 05, 2026	PubMed
66	Autosomal dominant hypophosphatemic rickets Autosomal dominant	Bone disorders	FGF23 fibroblast growth factor 23	Reports Updated as of Sep 08, 2025	PubMed
67	Autosomal dominant Kenny-Caffey syndrome Autosomal dominant	Bone disorders	FAM111A FAM111 trypsin like peptidase A	Reports Updated as of Apr 28, 2026	PubMed
68	Autosomal dominant osteopetrosis 2 Autosomal dominant	Bone disorders	CLCN7 chloride voltage-gated channel 7	Reports Updated as of Jul 20, 2024	PubMed
69	Autosomal recessive congenital ichthyosis 4B Autosomal recessive	Skin disorders	ABCA12 ATP binding cassette subfamily A member 12	Reports Updated as of Dec 07, 2023	PubMed
70	Autosomal recessive hyper-IgE syndrome Autosomal recessive	Immune disorders	DOCK8 dedicator of cytokinesis 8	Reports Updated as of Feb 26, 2025	PubMed

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