COFG
MCID: CRB204
MIFTS: 23

Cerebellar, Ocular, Craniofacial, and Genital Syndrome (COFG)

Categories: Genetic diseases

Aliases & Classifications for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

MalaCards integrated aliases for Cerebellar, Ocular, Craniofacial, and Genital Syndrome:

Name: Cerebellar, Ocular, Craniofacial, and Genital Syndrome 57 6
Cofg 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
medial sparseness of eyebrows less prominent with advancing age


Classifications:



External Ids:

OMIM 57 618479

Summaries for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

OMIM : 57 Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment. Additional features such as pontine involvement, retinal degeneration, anteverted nares, and low-set ears have been variably observed (Rad et al., 2019). (618479)

MalaCards based summary : Cerebellar, Ocular, Craniofacial, and Genital Syndrome, also known as cofg, is related to cerebellar hypoplasia and ataxia and polyneuropathy, adult-onset. An important gene associated with Cerebellar, Ocular, Craniofacial, and Genital Syndrome is MAB21L1 (Mab-21 Like 1). Affiliated tissues include breast, skin and eye, and related phenotypes are endocrine/exocrine gland and integument

Related Diseases for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

Diseases related to Cerebellar, Ocular, Craniofacial, and Genital Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia 10.2
2 ataxia and polyneuropathy, adult-onset 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.2
4 corneal dystrophy 10.2
5 microcephaly 10.2

Graphical network of the top 20 diseases related to Cerebellar, Ocular, Craniofacial, and Genital Syndrome:



Diseases related to Cerebellar, Ocular, Craniofacial, and Genital Syndrome

Symptoms & Phenotypes for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears
protruding ears
helical abnormalities

Head And Neck Nose:
anteverted nares

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
attention-deficit/hyperactivity disorder
timid, shy, or anxious behavior
autism spectrum behaviors

Skin Nails Hair Hair:
hirsutism

Chest Breasts:
widely spaced nipples
absent or underdeveloped nipples
no discernable areola
tufts of hair extruding from lactiferous ducts
lack of postpubertal breast development

Muscle Soft Tissue:
muscular build
prominent trapezius muscles

Neurologic Peripheral Nervous System:
brisk deep tendon reflexes
absent plantar reflexes

Head And Neck Face:
smooth philtrum
long philtrum
low anterior hairline
short forehead
tented philtrum

Head And Neck Eyes:
strabismus
buphthalmos
horizontal nystagmus
long eyelashes
synophrys
more
Neurologic Central Nervous System:
dandy-walker malformation
ataxic gait
intellectual disability, moderate to severe
neurodevelopmental delay, moderate to severe
cerebellar hypoplasia, nonprogressive
more
Genitourinary External Genitalia Male:
absent scrotum
glanular hypospadias
flat, nonrugose perineal skin

Head And Neck Head:
microcephaly (in some patients)

Genitourinary External Genitalia Female:
absent labia majora
small labia minora

Clinical features from OMIM:

618479

MGI Mouse Phenotypes related to Cerebellar, Ocular, Craniofacial, and Genital Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 8.96 MAB21L1 NBEA
2 integument MP:0010771 8.62 MAB21L1 NBEA

Drugs & Therapeutics for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

Search Clinical Trials , NIH Clinical Center for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

Genetic Tests for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

Anatomical Context for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

MalaCards organs/tissues related to Cerebellar, Ocular, Craniofacial, and Genital Syndrome:

41
Breast, Skin, Eye, Cerebellum

Publications for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

Articles related to Cerebellar, Ocular, Craniofacial, and Genital Syndrome:

# Title Authors PMID Year
1
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). 38 8 71
30487245 2019
2
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. 8 71
27103078 2017
3
Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients. 8 71
27075597 2016
4
Congenital agenesis of scrotum and labia majora in siblings. 8 71
23374822 2013
5
The methanogenic redox cofactor F420 is widely synthesized by aerobic soil bacteria. 38
27505347 2017
6
Biosynthetic versatility and coordinated action of 5'-deoxyadenosyl radicals in deazaflavin biosynthesis. 38
25781338 2015
7
Identification of the 7,8-didemethyl-8-hydroxy-5-deazariboflavin synthase required for coenzyme F(420) biosynthesis. 38
14593448 2003

Variations for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

ClinVar genetic disease variations for Cerebellar, Ocular, Craniofacial, and Genital Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MAB21L1 NM_005584.5(MAB21L1): c.735dup (p.Cys246fs) duplication Pathogenic 13:36049541-36049541 13:35475404-35475404
2 MAB21L1 NM_005584.5(MAB21L1): c.840C> G (p.Tyr280Ter) single nucleotide variant Pathogenic 13:36049436-36049436 13:35475299-35475299
3 MAB21L1 NM_005584.5(MAB21L1): c.859del (p.Arg287fs) deletion Pathogenic 13:36049417-36049417 13:35475280-35475280
4 MAB21L1 NM_005584.5(MAB21L1): c.841del (p.Glu281fs) deletion Pathogenic 13:36049435-36049435 13:35475298-35475298
5 MAB21L1 NM_005584.5(MAB21L1): c.698A> C (p.Gln233Pro) single nucleotide variant Pathogenic 13:36049578-36049578 13:35475441-35475441

Expression for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

Search GEO for disease gene expression data for Cerebellar, Ocular, Craniofacial, and Genital Syndrome.

Pathways for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

GO Terms for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

Sources for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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