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
651	Wolcott-Rallison dysplasia Autosomal recessive	Multisystemic disorders	EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3	Reports Updated as of Feb 01, 2025	PubMed
652	Wolman disease Autosomal recessive	Metabolic disorders	LIPA lipase A, lysosomal acid type	Reports Updated as of Nov 30, 2023	PubMed
653	Woodhouse-Sakati syndrome Autosomal recessive	Multisystemic disorders	DCAF17 DDB1 and CUL4 associated factor 17	Reports Updated as of Apr 28, 2026	PubMed
654	X-linked agammaglobulinemia X-linked dominant	Immune disorders	BTK Bruton tyrosine kinase	Reports Updated as of Jul 20, 2024	PubMed
655	X-linked agammaglobulinemia with growth hormone deficiency X-linked recessive	Endocrine disorders	BTK Bruton tyrosine kinase	Reports Updated as of Sep 08, 2025	PubMed
656	X-linked chondrodysplasia punctata 1 X-linked recessive	Bone disorders	ARSL arylsulfatase L	Reports Updated as of Apr 28, 2026	PubMed
657	X-linked erythropoietic protoporphyria X-linked dominant	Metabolic disorders	ALAS2 5'-aminolevulinate synthase 2	Reports Updated as of Apr 28, 2026	PubMed
658	X-linked hydrocephalus syndrome X-linked recessive	Neurodevelopmental disorders	L1CAM L1 cell adhesion molecule	Reports Updated as of Feb 10, 2026	PubMed
659	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
660	X-linked lissencephaly with abnormal genitalia X-linked recessive	Multisystemic disorders	ARX aristaless related homeobox	Reports Updated as of Nov 12, 2025	PubMed

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