Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development(CASGID)

MedGen UID:: 1673640
•Concept ID:: C5193037
•: Disease or Syndrome

Synonyms:	CASGID; INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT

Gene (location): Gene(s) directly associated with this condition or phenotype.	GLS (2q32.2)

Monarch Initiative:	MONDO:0032685
OMIM®:	618339

Definition

Aside from the clinical features of infantile cataract, skin abnormalities, and impaired intellectual development, CASGID is characterized by strikingly high intracerebral and urinary glutamate excess with almost undetectable glutamine. A gain-of-function mutation in the GLS gene was found (see MOLECULAR GENETICS) (Rumping et al., 2019). GLS loss of function is implicated in developmental and epileptic encephalopathy-71 (DEE71; 618328) and a syndrome of global developmental delay and progressive ataxia (GDPAG; 618412). [from OMIM]

Clinical features

From HPO

Self-injurious behavior

MedGen UID:: 88371
•Concept ID:: C0085271
•: Individual Behavior

Self-aggression.

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Agitation

MedGen UID:: 88447
•Concept ID:: C0085631
•: Sign or Symptom

A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.

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Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

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Reduced eye contact

MedGen UID:: 303190
•Concept ID:: C1445953
•: Finding

A reduced frequency or duration of eye contact.

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Delayed CNS myelination

MedGen UID:: 867393
•Concept ID:: C4021758
•: Anatomical Abnormality

Delayed myelination in the central nervous system.

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Secondary microcephaly

MedGen UID:: 608952
•Concept ID:: C0431352
•: Finding

Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.

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Kyphoscoliosis

MedGen UID:: 154361
•Concept ID:: C0575158
•: Anatomical Abnormality

An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.

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Axial hypotonia

MedGen UID:: 342959
•Concept ID:: C1853743
•: Finding

Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.

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Parakeratosis

MedGen UID:: 10572
•Concept ID:: C0030436
•: Disease or Syndrome

Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.

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Subcutaneous nodule

MedGen UID:: 101803
•Concept ID:: C0151811
•: Pathologic Function

Slightly elevated lesions on or in the skin with a diameter of over 5 mm.

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Hyperkeratosis

MedGen UID:: 209030
•Concept ID:: C0870082
•: Disease or Syndrome

Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.

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