Neurooculocardiogenitourinary Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111675

OMIM® ⁵⁷ 618652

MeSH ⁴⁴ D000015

MedGen ⁴¹ C5231443 CN262657

EFO ¹⁷ EFO_0010663

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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)

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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

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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)

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Drugs & Therapeutics for Neurooculocardiogenitourinary Syndrome

Search Clinical Trials , NIH Clinical Center for Neurooculocardiogenitourinary Syndrome

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Genetic Tests for Neurooculocardiogenitourinary Syndrome

Genetic tests related to Neurooculocardiogenitourinary Syndrome:

#	Genetic test	Affiliating Genes
1	Neurooculocardiogenitourinary Syndrome ²⁹	WDR37

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Anatomical Context for Neurooculocardiogenitourinary Syndrome

MalaCards organs/tissues related to Neurooculocardiogenitourinary Syndrome:

⁴⁰

Cerebellum, Uterus

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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	Kanca O...Malicdan MCV	31327508	2019
2	De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. ⁵⁷ ⁶	Reis LM...Semina EV	31327510	2019
3	Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. ⁶¹	Sakaguchi Y...Takenouchi T	33369122	2020

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Genes for Neurooculocardiogenitourinary Syndrome

Genes related to Neurooculocardiogenitourinary Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	WDR37	WD Repeat Domain 37	Protein Coding	1324.75	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	31327508 31327510
2	PACS1	Phosphofurin Acidic Cluster Sorting Protein 1	Protein Coding	7.46	DISEASES inferred ¹⁵
3	PACS2	Phosphofurin Acidic Cluster Sorting Protein 2	Protein Coding	7.3	DISEASES inferred ¹⁵

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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
1	WDR37	p.Ser119Phe	VAR_083347
2	WDR37	p.Thr125Ile	VAR_083348
3	WDR37	p.Ser129Cys	VAR_083349
4	WDR37	p.Thr130Ile	VAR_083350

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Expression for Neurooculocardiogenitourinary Syndrome

Search GEO for disease gene expression data for Neurooculocardiogenitourinary Syndrome.

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Pathways for Neurooculocardiogenitourinary Syndrome

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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

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Sources for Neurooculocardiogenitourinary Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Neurooculocardiogenitourinary Syndrome (NOCGUS)

Aliases & Classifications for Neurooculocardiogenitourinary Syndrome

MalaCards integrated aliases for Neurooculocardiogenitourinary Syndrome:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Neurooculocardiogenitourinary Syndrome

Related Diseases for Neurooculocardiogenitourinary Syndrome

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

Symptoms & Phenotypes for Neurooculocardiogenitourinary Syndrome

Human phenotypes related to Neurooculocardiogenitourinary Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Neurooculocardiogenitourinary Syndrome

Genetic Tests for Neurooculocardiogenitourinary Syndrome

Genetic tests related to Neurooculocardiogenitourinary Syndrome:

Anatomical Context for Neurooculocardiogenitourinary Syndrome

MalaCards organs/tissues related to Neurooculocardiogenitourinary Syndrome:

Publications for Neurooculocardiogenitourinary Syndrome

Articles related to Neurooculocardiogenitourinary Syndrome:

Genes for Neurooculocardiogenitourinary Syndrome

Genes related to Neurooculocardiogenitourinary Syndrome (1 elite genes):

Variations for Neurooculocardiogenitourinary Syndrome

ClinVar genetic disease variations for Neurooculocardiogenitourinary Syndrome:

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

Expression for Neurooculocardiogenitourinary Syndrome

Pathways for Neurooculocardiogenitourinary Syndrome

GO Terms for Neurooculocardiogenitourinary Syndrome

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

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

Sources for Neurooculocardiogenitourinary Syndrome