NDCAGF
MCID: NRD077
MIFTS: 23

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 57 12 73 6 17
Ndcagf 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies:
Inheritance autosomal recessive inheritance


Classifications:



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, and has symptoms including abnormal gait An important gene associated with Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies is INTS1 (Integrator Complex Subunit 1). Affiliated tissues include heart and brain, and related phenotypes are frontal bossing and scoliosis

Disease Ontology : 12 A syndrome that is characterized by common dysmorphic features including frontal bossing, small palebral fissures, widely spaced eyes, and has symptom abnormal gait, hypotonia, and cataracts.

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...

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

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 very rare (1%) HP:0002007
2 scoliosis 31 very rare (1%) HP:0002650
3 short neck 31 very rare (1%) HP:0000470
4 cataract 31 very rare (1%) HP:0000518
5 hypertelorism 31 very rare (1%) HP:0000316
6 wide nasal bridge 31 very rare (1%) HP:0000431
7 short nose 31 very rare (1%) HP:0003196
8 short stature 31 very rare (1%) HP:0004322
9 full cheeks 31 very rare (1%) HP:0000293
10 strabismus 31 very rare (1%) HP:0000486
11 absent speech 31 very rare (1%) HP:0001344
12 cleft palate 31 very rare (1%) HP:0000175
13 low-set ears 31 very rare (1%) HP:0000369
14 epicanthus 31 very rare (1%) HP:0000286
15 pectus excavatum 31 very rare (1%) HP:0000767
16 dolichocephaly 31 very rare (1%) HP:0000268
17 downturned corners of mouth 31 very rare (1%) HP:0002714
18 microphthalmia 31 very rare (1%) HP:0000568
19 long philtrum 31 very rare (1%) HP:0000343
20 protruding ear 31 very rare (1%) HP:0000411
21 deep philtrum 31 very rare (1%) HP:0002002
22 bulbous nose 31 very rare (1%) HP:0000414
23 microretrognathia 31 very rare (1%) HP:0000308
24 severe global developmental delay 31 very rare (1%) HP:0011344
25 astigmatism 31 very rare (1%) HP:0000483
26 abnormal heart morphology 31 very rare (1%) HP:0001627
27 autistic behavior 31 very rare (1%) HP:0000729
28 difficulty walking 31 very rare (1%) HP:0002355
29 inability to walk 31 very rare (1%) HP:0002540
30 renal dysplasia 31 very rare (1%) HP:0000110
31 horizontal eyebrow 31 very rare (1%) HP:0011228
32 retinal coloboma 31 very rare (1%) HP:0000480
33 narrow palpebral fissure 31 very rare (1%) HP:0045025
34 inferior vermis hypoplasia 31 very rare (1%) HP:0007068
35 overlapping toe 31 very rare (1%) HP:0001845
36 cleft lip 31 very rare (1%) HP:0410030
37 seizure 31 very rare (1%) HP:0001250
38 hypotonia 31 very rare (1%) HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Face:
frontal bossing
full cheeks
micrognathia
abnormal philtrum
dysmorphic facial features, variable

Neurologic Central Nervous System:
global developmental delay
hypotonia
abnormal gait
impaired intellectual development
cerebellar atrophy (in some patients)
more
Growth Height:
short stature

Head And Neck Ears:
low-set ears
dysplastic ears

Head And Neck Teeth:
dental crowding
diastema

Head And Neck Nose:
broad nasal bridge

Skeletal Feet:
overlapping toes
broad halluces
irregularly implanted toes

Growth Other:
poor growth

Genitourinary Kidneys:
renal abnormalities, variable (in some patients)

Head And Neck Neck:
short neck

Head And Neck Eyes:
hypertelorism
strabismus
myopia
microphthalmia
microcornea
more
Genitourinary External Genitalia Male:
cryptorchidism

Chest External Features:
pectus excavatum
pectus abnormalities

Head And Neck Head:
dolichocephaly

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Mouth:
downturned corners of the mouth

Skeletal Hands:
abnormal thumbs

Clinical features from OMIM®:

618571 (Updated 05-Mar-2021)

Symptoms:

12
  • abnormal gait

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
Heart, 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 INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings. 6 57
31428919 2020
2
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. 57 6
30622326 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. 57
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 rs1286686353 7:1515892-1515892 7:1476256-1476256
2 INTS1 NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys) SNV Pathogenic 689521 rs200649090 7:1542657-1542657 7:1503021-1503021
3 INTS1 NM_001080453.3(INTS1):c.5398dup (p.Arg1800fs) Duplication Pathogenic 689522 rs1562487424 7:1515687-1515688 7:1476051-1476052
4 INTS1 NM_001080453.3(INTS1):c.5621C>T (p.Pro1874Leu) SNV Pathogenic 689523 rs1162809128 7:1514356-1514356 7:1474720-1474720
5 INTS1 NM_001080453.3(INTS1):c.1645A>G (p.Met549Val) SNV Pathogenic 689524 rs1030646527 7:1535858-1535858 7:1496222-1496222
6 INTS1 NM_001080453.3(INTS1):c.5881C>T (p.Gln1961Ter) SNV Pathogenic 689525 rs1284335313 7:1513278-1513278 7:1473642-1473642
7 INTS1 NM_001080453.3(INTS1):c.3133dup (p.Thr1045fs) Duplication Uncertain significance 931403 7:1524948-1524949 7:1485312-1485313

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies:

73
# Symbol AA change Variation ID SNP ID
1 INTS1 p.Met549Val VAR_083353 rs103064652

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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