CASGID
MCID: INF174
MIFTS: 16

Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development (CASGID)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and...

MalaCards integrated aliases for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development:

Name: Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 57 74 6
Casgid 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
based on report of one patient (last curated february 2019)
no measurable differences of glutamate or glutamine from control in plasma or csf


HPO:

32
infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 618339
MedGen 42 CN258223

Summaries for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and...

UniProtKB/Swiss-Prot : 74 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development: An autosomal dominant disease characterized by infantile-onset cataract, erythematic subcutaneous nodules, profound developmental delay, self-injurious behavior, and intracerebral glutamate excess. Histopathologic analysis of skin lesions show deep perivascular and periglandular lymphohistiocytic infiltrates and pronounced leukocytoclasia at the surface of the dermis, focal vacuolar alterations, hyperkeratosis, and parakeratosis of the epidermis.

MalaCards based summary : Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development, is also known as casgid. An important gene associated with Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development is GLS (Glutaminase). Affiliated tissues include skin and brain, and related phenotypes are self-injurious behavior and postnatal microcephaly

OMIM : 57 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). GLS loss of function is implicated in a form of neonatal epileptic encephalopathy (EIEE71; 618328) and a syndrome of global developmental delay and progressive ataxia (GDPAG; 618412). (618339)

Related Diseases for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and...

Symptoms & Phenotypes for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and...

Human phenotypes related to Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development:

32
# Description HPO Frequency HPO Source Accession
1 self-injurious behavior 32 HP:0100716
2 postnatal microcephaly 32 HP:0005484
3 delayed myelination 32 HP:0012448
4 muscular hypotonia of the trunk 32 HP:0008936

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior

Head And Neck Head:
acquired microcephaly

Skin Nails Hair Skin:
erythematic subcutaneous nodules (approx. 1 cm on extremities, cheeks, and ears)

Laboratory Abnormalities:
increased glutamate in urine, fibroblasts, and brain
decreased glutamine in urine, fibroblasts, and brain

Neurologic Central Nervous System:
delayed myelination
axial hypotonia
slowed development
motor agitation

Head And Neck Eyes:
infantile cataracts

Skin Nails Hair Skin Histology:
perivascular and periglandular lymphohistiocytic infiltrates of the dermis
pronounced leukocytoclasia at the surface of the dermis
focal vacuolar alterations of the epidermis
hyperkeratosis and parakeratosis of the epidermis

Clinical features from OMIM:

618339

Drugs & Therapeutics for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and...

Search Clinical Trials , NIH Clinical Center for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development

Genetic Tests for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and...

Anatomical Context for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and...

MalaCards organs/tissues related to Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development:

41
Skin, Brain

Publications for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and...

Articles related to Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development:

# Title Authors PMID Year
1
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay. 8 71
30239721 2019

Variations for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and...

ClinVar genetic disease variations for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GLS NM_014905.4(GLS): c.1445C> G (p.Ser482Cys) single nucleotide variant Pathogenic 2:191795182-191795182 2:190930456-190930456

UniProtKB/Swiss-Prot genetic disease variations for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development:

74
# Symbol AA change Variation ID SNP ID
1 GLS p.Ser482Cys VAR_081974

Expression for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and...

Search GEO for disease gene expression data for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development.

Pathways for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and...

GO Terms for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and...

Sources for Infantile Cataract, Skin Abnormalities, Glutamate Excess, and...

3 CDC
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10 dbSNP
11 DGIdb
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30 HGMD
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32 HPO
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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