NOCGUS
MCID: NRC022
MIFTS: 29

Neurooculocardiogenitourinary Syndrome (NOCGUS)

Categories: Genetic diseases

Aliases & Classifications for Neurooculocardiogenitourinary Syndrome

MalaCards integrated aliases for Neurooculocardiogenitourinary Syndrome:

Name: Neurooculocardiogenitourinary Syndrome 57 12 73 29 6 15 17
Nocgus 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
phenotypic variability

Inheritance:
autosomal dominant


HPO:

31
neurooculocardiogenitourinary syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurooculocardiogenitourinary Syndrome

UniProtKB/Swiss-Prot : 73 Neurooculocardiogenitourinary syndrome: An autosomal dominant multisystem disorder characterized by significant neurological impairment with structural brain defects and seizures, poor feeding, poor postnatal growth, ocular anomalies, dysmorphic facial features, and variable skeletal, cardiac and genitourinary defects. Death in infancy may occur.

MalaCards based summary : Neurooculocardiogenitourinary Syndrome, also known as nocgus, is related to autosomal dominant non-syndromic intellectual disability and developmental and epileptic encephalopathy 66. An important gene associated with Neurooculocardiogenitourinary Syndrome is WDR37 (WD Repeat Domain 37). Affiliated tissues include cerebellum and uterus, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has material basis in heterozygous mutation in WDR37 on chromosome 10p15.3.

OMIM® : 57 Neurooculocardiogenitourinary syndrome (NOCGUS) is a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. Lethality before 2 years of age has been observed (Reis et al., 2019). (618652) (Updated 05-Mar-2021)

Related Diseases for Neurooculocardiogenitourinary Syndrome

Diseases related to Neurooculocardiogenitourinary Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 9.4 WDR37 PACS1
2 developmental and epileptic encephalopathy 66 9.2 WDR37 PACS2 PACS1

Symptoms & Phenotypes for Neurooculocardiogenitourinary Syndrome

Human phenotypes related to Neurooculocardiogenitourinary Syndrome:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 global developmental delay 31 very rare (1%) HP:0001263
3 hypertelorism 31 very rare (1%) HP:0000316
4 smooth philtrum 31 very rare (1%) HP:0000319
5 sensorineural hearing impairment 31 very rare (1%) HP:0000407
6 cardiomegaly 31 very rare (1%) HP:0001640
7 absent speech 31 very rare (1%) HP:0001344
8 wide intermamillary distance 31 very rare (1%) HP:0006610
9 low-set ears 31 very rare (1%) HP:0000369
10 epicanthus 31 very rare (1%) HP:0000286
11 downturned corners of mouth 31 very rare (1%) HP:0002714
12 microphthalmia 31 very rare (1%) HP:0000568
13 patent ductus arteriosus 31 very rare (1%) HP:0001643
14 prominent nasal bridge 31 very rare (1%) HP:0000426
15 ventricular septal defect 31 very rare (1%) HP:0001629
16 high forehead 31 very rare (1%) HP:0000348
17 tricuspid regurgitation 31 very rare (1%) HP:0005180
18 postnatal microcephaly 31 very rare (1%) HP:0005484
19 peters anomaly 31 very rare (1%) HP:0000659
20 coloboma 31 very rare (1%) HP:0000589
21 redundant neck skin 31 very rare (1%) HP:0005989
22 bilateral cryptorchidism 31 very rare (1%) HP:0008689
23 patent foramen ovale 31 very rare (1%) HP:0001655
24 abnormality of the palmar creases 31 very rare (1%) HP:0010490
25 seizure 31 very rare (1%) HP:0001250
26 abnormal cerebellum morphology 31 HP:0001317

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
absent speech
polymicrogyria
cerebellar vermis hypoplasia
enlarged cisterna magna
more
Skeletal Spine:
scoliosis

Head And Neck Neck:
short neck
webbed neck
cystic hygroma
excess nuchal skin

Chest External Features:
pectus carinatum
inverted nipples
widely spaced nipples

Growth Height:
short stature

Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears
dysplastic helices
simplified ears

Skeletal:
joint laxity
contractures

Genitourinary External Genitalia Male:
micropenis

Genitourinary Kidneys:
hydronephrosis

Abdomen Gastrointestinal:
intestinal malrotation
feeding difficulties

Skin Nails Hair Skin:
sacral dimple
abnormal palmar creases

Genitourinary Ureters:
bifid ureter
ureterocele
dilated ureters
duplicated collecting system, unilateral

Skeletal Feet:
syndactyly
overlapping toes
bilateral talipes

Head And Neck Head:
microcephaly, postnatal

Respiratory:
respiratory distress at birth

Prenatal Manifestations Amniotic Fluid:
oligohydramnios in late pregnancy

Growth Other:
failure to thrive

Head And Neck Eyes:
ptosis
hypertelorism
microcornea
long eyelashes
ectropion of lower eyelids
more
Skeletal Pelvis:
hip dysplasia
hip dislocation
coxa valga

Head And Neck Face:
smooth philtrum
prominent forehead

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
tricuspid regurgitation
persistent foramen ovale
tricuspid valve thickening
more
Head And Neck Mouth:
wide mouth
thin upper lip vermilion
downturned mouth

Cardiovascular Vascular:
patent ductus arteriosus
persistent left superior vena cava
dilated aortic root
dilated aorta
dilated main pulmonary artery
more
Head And Neck Nose:
prominent nasal bridge
broad nasal bridge

Laboratory Abnormalities:
hypocalcemia
direct hyperbilirubinemia
hyperinsulinism
postprandial reactive hypoglycemia
transient neonatal hypoparathyroidism

Prenatal Manifestations:
fetal distress

Skeletal Hands:
syndactyly
tapered fingers
clinodactyly of fifth fingers
contractures of interphalangeal joints
contractures of metacarpophalangeal joints

Prenatal Manifestations Placenta And Umbilical Cord:
short umbilical cord
two-vessel umbilical cord

Genitourinary Internal Genitalia Female:
hypoplastic uterus
thin, fibrotic ovaries

Endocrine Features:
delayed or incomplete puberty

Clinical features from OMIM®:

618652 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurooculocardiogenitourinary Syndrome

Search Clinical Trials , NIH Clinical Center for Neurooculocardiogenitourinary Syndrome

Genetic Tests for Neurooculocardiogenitourinary Syndrome

Genetic tests related to Neurooculocardiogenitourinary Syndrome:

# Genetic test Affiliating Genes
1 Neurooculocardiogenitourinary Syndrome 29 WDR37

Anatomical Context for Neurooculocardiogenitourinary Syndrome

MalaCards organs/tissues related to Neurooculocardiogenitourinary Syndrome:

40
Cerebellum, Uterus

Publications for Neurooculocardiogenitourinary Syndrome

Articles related to Neurooculocardiogenitourinary Syndrome:

# Title Authors PMID Year
1
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. 57 6
31327508 2019
2
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. 57 6
31327510 2019
3
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. 61
33369122 2020

Variations for Neurooculocardiogenitourinary Syndrome

ClinVar genetic disease variations for Neurooculocardiogenitourinary Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys) SNV Pathogenic 633616 rs1589088702 10:1126406-1126406 10:1080466-1080466
2 WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) SNV Pathogenic 633617 rs1589088690 10:1126376-1126376 10:1080436-1080436
3 WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) SNV Pathogenic 633618 rs1589088703 10:1126409-1126409 10:1080469-1080469
4 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) SNV Pathogenic 440948 rs1554823375 10:1126394-1126394 10:1080454-1080454

UniProtKB/Swiss-Prot genetic disease variations for Neurooculocardiogenitourinary Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 WDR37 p.Ser119Phe VAR_083347
2 WDR37 p.Thr125Ile VAR_083348
3 WDR37 p.Ser129Cys VAR_083349
4 WDR37 p.Thr130Ile VAR_083350

Expression for Neurooculocardiogenitourinary Syndrome

Search GEO for disease gene expression data for Neurooculocardiogenitourinary Syndrome.

Pathways for Neurooculocardiogenitourinary Syndrome

GO Terms for Neurooculocardiogenitourinary Syndrome

Biological processes related to Neurooculocardiogenitourinary Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 8.96 PACS2 PACS1
2 protein localization to plasma membrane GO:0072659 8.62 PACS2 PACS1

Molecular functions related to Neurooculocardiogenitourinary Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.62 PACS2 PACS1

Sources for Neurooculocardiogenitourinary Syndrome

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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