NDCAGF
MCID: NRD077
MIFTS: 14

Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies (NDCAGF)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Cataracts, Poor Growth, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies:

Name: Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies 56 73 6
Ndcagf 56 73

Classifications:



External Ids:

OMIM 56 618571
MeSH 43 D065886
MedGen 41 CN262314

Summaries for Neurodevelopmental Disorder with Cataracts, Poor Growth, and...

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies: An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay with motor impairment, cognitive delays, absent or severely limited speech, dysmorphic features, hypotonia and cataracts.

MalaCards based summary : Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies, is also known as ndcagf. An important gene associated with Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies is INTS1 (Integrator Complex Subunit 1). Affiliated tissues include brain.

More information from OMIM: 618571

Related Diseases for Neurodevelopmental Disorder with Cataracts, Poor Growth, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Cataracts, Poor Growth, and...

Clinical features from OMIM:

618571

Drugs & Therapeutics for Neurodevelopmental Disorder with Cataracts, Poor Growth, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies

Genetic Tests for Neurodevelopmental Disorder with Cataracts, Poor Growth, and...

Anatomical Context for Neurodevelopmental Disorder with Cataracts, Poor Growth, and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies:

40
Brain

Publications for Neurodevelopmental Disorder with Cataracts, Poor Growth, and...

Articles related to Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies:

# Title Authors PMID Year
1
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. 56 6
30622326 2019
2
Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings. 6
31428919 2019
3
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development. 6
28763441 2017
4
Human mutations in integrator complex subunits link transcriptome integrity to brain development. 56
28542170 2017

Variations for Neurodevelopmental Disorder with Cataracts, Poor Growth, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INTS1 NM_001080453.3(INTS1):c.5351C>A (p.Ser1784Ter)SNV Pathogenic 689520 7:1515892-1515892 7:1476256-1476256
2 INTS1 NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys)SNV Pathogenic 689521 7:1542657-1542657 7:1503021-1503021
3 INTS1 NM_001080453.3(INTS1):c.5398dup (p.Arg1800fs)duplication Pathogenic 689522 7:1515687-1515688 7:1476051-1476052
4 INTS1 NM_001080453.3(INTS1):c.5621C>T (p.Pro1874Leu)SNV Pathogenic 689523 7:1514356-1514356 7:1474720-1474720
5 INTS1 NM_001080453.3(INTS1):c.1645A>G (p.Met549Val)SNV Pathogenic 689524 7:1535858-1535858 7:1496222-1496222
6 INTS1 NM_001080453.3(INTS1):c.5881C>T (p.Gln1961Ter)SNV Pathogenic 689525 7:1513278-1513278 7:1473642-1473642

Expression for Neurodevelopmental Disorder with Cataracts, Poor Growth, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies.

Pathways for Neurodevelopmental Disorder with Cataracts, Poor Growth, and...

GO Terms for Neurodevelopmental Disorder with Cataracts, Poor Growth, and...

Sources for Neurodevelopmental Disorder with Cataracts, Poor Growth, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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