NOCGUS
MCID: NRC022
MIFTS: 22

Neurooculocardiogenitourinary Syndrome (NOCGUS)

Categories: Genetic diseases

Aliases & Classifications for Neurooculocardiogenitourinary Syndrome

MalaCards integrated aliases for Neurooculocardiogenitourinary Syndrome:

Name: Neurooculocardiogenitourinary Syndrome 56 12 73 29 6 17
Nocgus 56 12 73

Characteristics:

OMIM:

56
Miscellaneous:
phenotypic variability

Inheritance:
autosomal dominant


Classifications:



External Ids:

Disease Ontology 12 DOID:0111675
OMIM 56 618652
MeSH 43 D000015
MedGen 41 CN262657

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, is also known as nocgus. An important gene associated with Neurooculocardiogenitourinary Syndrome is WDR37 (WD Repeat Domain 37). Affiliated tissues include brain, skin and ovary.

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 : 56 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)

Related Diseases for Neurooculocardiogenitourinary Syndrome

Symptoms & Phenotypes for Neurooculocardiogenitourinary Syndrome

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
absent speech
polymicrogyria
cerebellar vermis hypoplasia
delayed myelination
more
Head And Neck Neck:
short neck
webbed neck
cystic hygroma
excess nuchal skin

Skeletal Spine:
scoliosis

Head And Neck Face:
smooth philtrum
prominent forehead

Growth Other:
failure to thrive

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

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

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

Chest External Features:
pectus carinatum
inverted nipples
widely spaced nipples

Growth Height:
short stature

Abdomen Gastrointestinal:
feeding difficulties
intestinal malrotation

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

Laboratory Abnormalities:
hypocalcemia
hyperinsulinism
direct hyperbilirubinemia
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

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

Anatomical Context for Neurooculocardiogenitourinary Syndrome

MalaCards organs/tissues related to Neurooculocardiogenitourinary Syndrome:

40
Brain, Skin, Ovary, Uterus

Publications for Neurooculocardiogenitourinary Syndrome

Articles related to Neurooculocardiogenitourinary Syndrome:

# Title Authors PMID Year
1
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. 56 6
31327510 2019
2
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. 56 6
31327508 2019

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.374C>T (p.Thr125Ile)SNV Likely pathogenic 440948 rs1554823375 10:1126394-1126394 10:1080454-1080454
2 WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)SNV Likely pathogenic 633617 10:1126376-1126376 10:1080436-1080436
3 WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)SNV Likely pathogenic 633616 10:1126406-1126406 10:1080466-1080466
4 WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)SNV Likely pathogenic 633618 10:1126409-1126409 10:1080469-1080469

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

Sources for Neurooculocardiogenitourinary Syndrome

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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