GenTIGS

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
11	Acid sphingomyelinase deficiency Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	SMPD1 sphingomyelin phosphodiesterase 1	Reports Updated as of Jan 05, 2026	PubMed
12	Acrocallosal syndrome Autosomal recessive	Bone disorders	KIF7 kinesin family member 7	Reports Updated as of Nov 10, 2023	PubMed
13	Acrocephalosyndactyly Autosomal dominant	Bone disorders	FGFR2 fibroblast growth factor receptor 2	Reports Updated as of Sep 15, 2022	PubMed
14	Acrodermatitis continua suppurativa of Hallopeau Autosomal recessive	Skin disorders	IL36RN interleukin 36 receptor antagonist	Reports Updated as of Jul 20, 2024	PubMed
15	Acroerythrokeratoderma Autosomal recessive	Skin disorders	SLURP1 secreted LY6/PLAUR domain containing 1	Reports Updated as of Jan 04, 2024	PubMed
16	Acrokeratosis verruciformis of Hopf Autosomal dominant	Skin disorders	ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	Reports Updated as of Feb 04, 2025	PubMed
17	Acute fatty liver of pregnancy Autosomal recessive	Metabolic disorders	HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	Reports Updated as of Nov 30, 2023	PubMed
18	Acute febrile neutrophilic dermatosis Autosomal dominant	Skin disorders	MEFV MEFV innate immunity regulator, pyrin	Reports Updated as of Dec 29, 2023	PubMed
19	Acyl-CoA oxidase deficiency Autosomal recessive	Metabolic disorders	ACOX1 acyl-CoA oxidase 1	Reports Updated as of Feb 10, 2026	PubMed
20	Adams-Oliver syndrome 1 Autosomal dominant	Bone disorders	ARHGAP31 Rho GTPase activating protein 31	Reports Updated as of Feb 01, 2024	PubMed

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