COFG
MCID: CRB204
MIFTS: 27

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 56 73 29 6
Cofg 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
medial sparseness of eyebrows less prominent with advancing age


HPO:

31
cerebellar, ocular, craniofacial, and genital syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

OMIM : 56 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 ataxia and polyneuropathy, adult-onset and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Cerebellar, Ocular, Craniofacial, and Genital Syndrome is MAB21L1 (Mab-21 Like 1). Affiliated tissues include breast, eye and skin, and related phenotypes are microcephaly and hypoplasia of the pons

UniProtKB/Swiss-Prot : 73 Cerebellar, ocular, craniofacial, and genital syndrome: An autosomal recessive syndrome characterized by moderate to severe developmental delay, intellectual disability, cerebellar hypoplasia with ataxia, variable microcephaly, ophthalmological anomalies, facial dysmorphism, absent or underdeveloped nipples, underdeveloped labioscrotal folds and scrotal agenesis.

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 ataxia and polyneuropathy, adult-onset 10.2
2 alacrima, achalasia, and mental retardation syndrome 10.2
3 microcephaly 10.2
4 corneal dystrophy 10.2
5 cerebellar hypoplasia 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

Human phenotypes related to Cerebellar, Ocular, Craniofacial, and Genital Syndrome:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 hypoplasia of the pons 31 very rare (1%) HP:0012110
3 low-set ears 31 HP:0000369
4 retinal degeneration 31 HP:0000546
5 smooth philtrum 31 HP:0000319
6 anteverted nares 31 HP:0000463
7 visual impairment 31 HP:0000505
8 long philtrum 31 HP:0000343
9 protruding ear 31 HP:0000411
10 strabismus 31 HP:0000486
11 wide intermamillary distance 31 HP:0006610
12 gait ataxia 31 HP:0002066
13 cerebellar hypoplasia 31 HP:0001321
14 keratoconjunctivitis sicca 31 HP:0001097
15 posteriorly rotated ears 31 HP:0000358
16 synophrys 31 HP:0000664
17 aggressive behavior 31 HP:0000718
18 dandy-walker malformation 31 HP:0001305
19 buphthalmos 31 HP:0000557
20 low anterior hairline 31 HP:0000294
21 horizontal nystagmus 31 HP:0000666
22 long eyelashes 31 HP:0000527
23 hyperactive deep tendon reflexes 31 HP:0006801
24 hirsutism 31 HP:0001007
25 tented philtrum 31 HP:0011825
26 absent scrotum 31 HP:0008707
27 laterally extended eyebrow 31 HP:0011230

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
posteriorly rotated ears
protruding ears
helical abnormalities

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

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 Eyes:
retinal degeneration
strabismus
synophrys
buphthalmos
horizontal nystagmus
more
Head And Neck Nose:
anteverted nares

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 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

Genetic tests related to Cerebellar, Ocular, Craniofacial, and Genital Syndrome:

# Genetic test Affiliating Genes
1 Cerebellar, Ocular, Craniofacial, and Genital Syndrome 29 MAB21L1

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

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

40
Breast, Eye, Skin, Pons, 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). 61 56 6
30487245 2019
2
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. 56 6
27103078 2017
3
Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients. 56 6
27075597 2016
4
Congenital agenesis of scrotum and labia majora in siblings. 56 6
23374822 2013
5
The methanogenic redox cofactor F420 is widely synthesized by aerobic soil bacteria. 61
27505347 2017
6
Biosynthetic versatility and coordinated action of 5'-deoxyadenosyl radicals in deazaflavin biosynthesis. 61
25781338 2015
7
Identification of the 7,8-didemethyl-8-hydroxy-5-deazariboflavin synthase required for coenzyme F(420) biosynthesis. 61
14593448 2003

Variations for Cerebellar, Ocular, Craniofacial, and Genital Syndrome

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAB21L1 NM_005584.5(MAB21L1):c.735dup (p.Cys246fs)duplication Pathogenic 634926 rs1566188955 13:36049540-36049541 13:35475403-35475404
2 MAB21L1 NM_005584.5(MAB21L1):c.840C>G (p.Tyr280Ter)SNV Pathogenic 634927 rs1566188537 13:36049436-36049436 13:35475299-35475299
3 MAB21L1 NM_005584.5(MAB21L1):c.859del (p.Arg287fs)deletion Pathogenic 634928 rs1566188475 13:36049417-36049417 13:35475280-35475280
4 MAB21L1 NM_005584.5(MAB21L1):c.841del (p.Glu281fs)deletion Pathogenic 634929 rs1566188524 13:36049435-36049435 13:35475298-35475298
5 MAB21L1 NM_005584.5(MAB21L1):c.698A>C (p.Gln233Pro)SNV Pathogenic 634930 rs1566189161 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 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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