MCID: INF174
MIFTS: 11

Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development

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 58 6
Casgid 58

Characteristics:

OMIM:

58
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


Classifications:



External Ids:

OMIM 58 618339

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

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.

Description from OMIM: 618339

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

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

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin, Brain

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

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 Assembly Location
1 GLS NM_014905.4(GLS): c.1445C> G (p.Ser482Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 190930456: 190930456
2 GLS NM_014905.4(GLS): c.1445C> G (p.Ser482Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 191795182: 191795182

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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