Recessive X-linked inheritance pattern:

  • The frequency of sick individuals is much higher among men than among women.
  • Men pass the diseased allele to all their daughters, but all daughters will be healthy.
  • A heterozygous carrier will transmit the allele to 50% of her sons (who will be sick) as well as 50% of her daughters (who will be healthy carriers).
  • There is no transmission of the disease from parents to children.

Dominant X-linked inheritance pattern:

  • Both men and women transmit the disease, and it is expressed in both sexes.
  • The disease is twice as common in women as in men.
  • An affected man transmits the disease to all his daughters, but to none of his sons.
  • An affected woman transmits the disease to half of her sons and daughters.
  • Women usually have a milder form of the disease than men.

Hollandric or Y-linked inheritance.

  • Only men express and transmit the genes linked to the y chromosome, and they pass them on to all their male children.

Pseudoautosomal inheritance or “partial sex linkage”.

  • Women transmit the genes of the X/Y homologous segment in the same way to their children of both sexes, but men transmit them predominantly to children of the same sex. For example, this inheritance model occurs in X-linked ichthyosis due to steroid sulfatase deficiency.

Since X-linked diseases are more limited in number than autosomal diseases, it is a better strategy to know and learn about them. An extensive list can be consulted at OMIM.

Metabolic diseases are linked to X.
DiseaseOMIMgeneInheritanceMetabolic diseases group
Pyruvate dehydrogenase 1 deficiency312170PDHA1XLDEnergy metabolism
Glucose-6-phosphate dehydrogenase deficiency305900G6PDXLDGlycolysis
Lesch-Nyhan disease300322HPRT1XLRPurines and pyrimidines
OTC deficit311250OTCXL(D/R)urea cycle
Arts syndrome (phosphoribosyl-pyrophosphate synthase deficiency)301835PRPS1XLRPurines and pyrimidines
Epsilon-N-trimethyllysine hydroxylase deficiency300777TMLHEXLRFatty acids and ketones
CHILD syndrome308050NSDHLXLDSterols
Hunter's disease309900IDSXLRLysosomal
Fabry disease301500GLAXL(D/R)Lysosomal
Danon disease300257LAMP2XLDLysosomal
Chondrodysplasia punctata (Conradi-Hünermann)302950ARSEXLRLysosomal
X-linked adrenoleukodystrophy300100ABCD1XLRPeroxisomal
Menkes disease   Copper metabolism
Occipital horns syndrome   Copper metabolism
PIGA-CDG   Protein glycosylation disorder
SLC35A2-CDG   Protein glycosylation disorder
X-linked diseases of special neurological relevance.
 OMIMgeneInheritanceDisease group
Lowe's disease (oculocerebrorenal syndrome)309000OCRLXLRSyndromic intellectual disability
Allan-Herndon-Dudley syndrome (MCT8 deficiency, brain thyroid hormone transporter)300523SLC16A2XL(D/R)Syndromic intellectual disability
Coffin-Lowry syndrome303600RPS6KA3XLDSyndromic intellectual disability
Aarskog-Scott syndrome (Faciogenital syndrome, x-linked syndromic intellectual disability type 16)305400FGD1XLDSyndromic intellectual disability
Kabuki syndrome type 2 (Kabuki makeup syndrome)300867KDM6AXLDSyndromic intellectual disability
Fragile X syndrome (FRAXA)300624FMR1XLDSyndromic intellectual disability
Fragile X syndrome (FRAXE)309548AFF2XLRSyndromic intellectual disability
Rett syndrome312750MECP2XLDAutism spectrum disorder
Duchenne/Becker disease310200DMDXLDNeuromuscular
Kennedy disease (X-linked spinobulbar muscular atrophy; SMAX1)313200ARXLRNeuromuscular
X-linked spinal muscular atrophy (SMAX2)301830UBA2XLRNeuromuscular
X-linked distal muscular atrophy (SMAX3)300489ATP7AXLRNeuromuscular
CMTX   Neuromuscular
X-linked myotubular myopathy   Neuromuscular
centronuclear myopathy   Neuromuscular
X-linked ichthyosis   Neurocutaneous
Barth syndrome    
X-linked oculocutaneous albinism   Neurocutaneous
Incontinentia pigmenti NEMO Neurocutaneous
Goltz syndrome   Neurocutaneous
Aicardi syndrome304050  brain malformation