Table 2.

Genes to Consider in the Differential Diagnosis of Mucolipidosis III Gamma (ML IIIγ)

Gene(s)DisorderMOIClinical Features of Differential Diagnosis Disorder
Overlapping w/ML IIIγDistinguishing from ML IIIγ
GNPTAB ML IIIα/β (See GNPTAB-Related Disorders.) 1ARClinical features of ML IIIγ are similar to but milder than those of ML IIIα/β.No specific ethnic predilection has been reported in ML III α/β. 2
CCN6 (WISP3) Progressive pseudorheumatoid dysplasia AR
  • Joint stiffness & osteoarthritis
  • Spinal involvement (kyphoscoliosis, platyspondyly)
  • Claw hands
  • Absence of dysostosis multiplex
  • Disease course less progressive
  • Normal level of serum hydrolases
COL2A1 Osteoarthritis w/mild chondrodysplasia (See Type II Collagen Disorders Overview.)AD
  • Joint stiffness & osteoarthritis
  • Mild short stature
  • Absence of dysostosis multiplex
  • Disease course less progressive
  • Normal level of serum hydrolases
CTSA Juvenile galactosialidosis
(OMIM 256540)		AR
  • Joint stiffness
  • Corneal clouding
  • Cardiac abnormalities
  • Facial coarseness
  • Dysostosis multiplex
  • Organomegaly
  • Normal level of serum hydrolases
  • ↑ urinary oligosaccharides
GLB1 MPS IV B 3 (See GLB1-Related Disorders.)AR
  • Joint stiffness
  • Corneal clouding
  • Cardiac abnormalities
  • Normal intelligence
  • Short stature usually more severe (frank dwarfism)
  • Absence of dysostosis multiplex
  • Normal level of serum hydrolases
GUSB MPS VII B 4AR
  • Dysostosis multiplex
  • Spinal deformities (kyphoscoliosis)
  • Coarse facies
  • Corneal opacities
  • Cardiac involvement
  • Normal level of serum hydrolases
IDS Slowly progressive MPS II 5XL
  • Joint stiffness
  • Corneal clouding
  • Cardiac abnormalities
  • Facial coarseness
  • Dysostosis multiplex
  • Organomegaly
  • Cognitive impairment
  • Hearing impairment
  • Normal level of serum hydrolases
IDUA Slowly progressive MPS I 6AR
  • Joint stiffness
  • Corneal clouding
  • Cardiac abnormalities
  • Facial coarseness
  • Dysostosis multiplex
  • Organomegaly
  • Cognitive impairment
  • Hearing impairment
  • Normal level of serum hydrolases
MAN2B1 Alpha-mannosidosis AR
  • Facial coarseness
  • Dysostosis multiplex
  • Organomegaly
  • Cognitive impairment
  • Hearing impairment
  • Normal level of serum hydrolases
SLC17A5 Free sialic acid storage disorders AR
  • Facial coarseness
  • Skeletal abnormalities
  • Organomegaly
  • Cognitive impairment
  • Neurologic abnormalities
  • Normal level of serum hydrolases
SUMF1 Multiple sulfatase deficiency AR
  • Joint stiffness
  • Corneal clouding
  • Cardiac abnormalities
  • Facial coarseness
  • Dysostosis multiplex
  • Organomegaly
  • Neurologic abnormalities
  • Cognitive impairment
  • Normal level of serum hydrolases

AD = autosomal dominant; AR = autosomal recessive; ML = mucolipidosis; MOI = mode of inheritance; MPS = mucopolysaccharidosis; XL = X-linked

1.

Also referred to as pseudo-Hurler polydystrophy

2.

Most individuals with ML IIIγ known to the authors originated from the Mediterranean region [Raas-Rothschild et al 2004, Encarnação et al 2009, Persichetti et al 2009].

3.

Also referred to as Morquio syndrome type B

4.

Also referred to as Sly disease type B

5.

Also referred to as Hunter syndrome

6.

Also referred to as Hurler-Scheie syndrome or Scheie syndrome

From: Mucolipidosis III Gamma

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