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
591	X-linked erythropoietic protoporphyria X-linked dominant	Metabolic disorders	ALAS2 5'-aminolevulinate synthase 2	Reports Updated as of Apr 28, 2026	PubMed
592	X-linked hydrocephalus syndrome X-linked recessive	Neurodevelopmental disorders	L1CAM L1 cell adhesion molecule	Reports Updated as of Feb 10, 2026	PubMed
593	X-linked intellectual disability, van Esch type X-linked recessive	Multisystemic disorders	POLA1 DNA polymerase alpha 1, catalytic subunit	Reports Updated as of Nov 12, 2025	PubMed
594	X-linked lissencephaly with abnormal genitalia X-linked recessive	Multisystemic disorders	ARX aristaless related homeobox	Reports Updated as of Nov 12, 2025	PubMed
595	X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked recessive	Immune disorders	SH2D1A SH2 domain containing 1A	Reports Updated as of Feb 10, 2026	PubMed
596	X-linked myopathy with excessive autophagy X-linked recessive	Neuromuscular disorders	VMA21 vacuolar ATPase assembly factor VMA21	Reports Updated as of Feb 01, 2025	PubMed
597	Young syndrome Autosomal recessive	Multisystemic disorders	CFAP221 cilia and flagella associated protein 221	Reports Updated as of Apr 28, 2026	PubMed
598	ZTTK syndrome Autosomal dominant	Multisystemic disorders	SON SON DNA and RNA binding protein	Reports Updated as of Apr 28, 2026	PubMed

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