CODASS
MCID: CDS002
MIFTS: 32

Codas Syndrome (CODASS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Codas Syndrome

MalaCards integrated aliases for Codas Syndrome:

Name: Codas Syndrome 58 54 60 76 38 30 6 74
Cerebral, Ocular, Dental, Auricular, and Skeletal Anomalies Syndrome 58 76
Cerebral, Ocular, Dental, Auricular, and Skeletal Syndrome 54
Syndrome, Cerebral, Ocular, Dental, Auricular, Skeletal 41
Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome 54
Cerebrooculodentoauriculoskeletal Syndrome 60
Codass 76

Characteristics:

Orphanet epidemiological data:

60
codas syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
codas is an acronym for cerebral ocular dental auricular skeletal syndrome


HPO:

33
codas syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Codas Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1458Disease definitionCodas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.EpidemiologyTo date, three affected children (an unrelated Canadian girl and boy of Mennonite descent, and a girl from Brazil) have been reported.Clinical descriptionCharacteristic features consist of psychomotor delay, cataracts, abnormally shaped teeth (including enamel projections extending from the tips of the cusps), delayed tooth eruption, malformed ears (overfolded and crumpled ears), sensorineural hearing loss, short stature with marked epiphyseal dysplasia, and an unusual facial phenotype characterized mainly by ptosis, epicanthal folds and a grooved nose.EtiologyEtiology remains unknown but some of the features suggest involvement of a collagen gene defect.Diagnostic methodsX-rays show delayed ossification, delayed bone age and spine and pelvic anomalies.Differential diagnosisThe differential diagnosis should include chondrodysplasia punctata (the rhizomelic, Conradi-Hunermann, and X-linked dominant types) and Kabuki syndrome (see these terms).Genetic counselingThe occurrence of two affected children within the Manitoba Mennonite community (a genetic isolate) suggests autosomal recessive inheritance, but other modes of transmission could not be excluded. Familial recurrence has not been documented.Management and treatmentManagement requires a multidisciplinary approach by specialists in neurology, ophthalmology, otorhinolaryngology, odontology, orthopedics and genetics.Visit the Orphanet disease page for more resources.

MalaCards based summary : Codas Syndrome, also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome, is related to even-plus syndrome and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Codas Syndrome is LONP1 (Lon Peptidase 1, Mitochondrial). Affiliated tissues include bone, eye and tongue, and related phenotypes are abnormality of epiphysis morphology and cataract

OMIM : 58 CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015). (600373)

UniProtKB/Swiss-Prot : 76 CODAS syndrome: A rare syndrome characterized by the combination of cerebral, ocular, dental, auricular, and skeletal features. These include developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts.

Related Diseases for Codas Syndrome

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

# Related Disease Score Top Affiliating Genes
1 even-plus syndrome 11.1
2 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
3 cavitary optic disc anomalies 10.0

Symptoms & Phenotypes for Codas Syndrome

Human phenotypes related to Codas Syndrome:

60 33 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
2 cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0000518
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
5 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
6 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
7 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
8 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
9 delayed eruption of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000684
10 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
11 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
12 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
13 overfolded helix 60 33 hallmark (90%) Very frequent (99-80%) HP:0000396
14 abnormality of dental enamel 60 33 hallmark (90%) Very frequent (99-80%) HP:0000682
15 abnormality of dental morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0006482
16 short metacarpal 60 33 hallmark (90%) Very frequent (99-80%) HP:0010049
17 crumpled ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0009901
18 coronal cleft vertebrae 60 33 hallmark (90%) Very frequent (99-80%) HP:0003417
19 midline defect of the nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0004122
20 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
21 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
22 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
23 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
24 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
25 congenital hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0001374
26 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
27 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
28 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
29 hydroureter 60 33 occasional (7.5%) Occasional (29-5%) HP:0000072
30 abnormality of the larynx 60 33 occasional (7.5%) Occasional (29-5%) HP:0001600
31 extrahepatic biliary duct atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0005242
32 seizures 33 occasional (7.5%) HP:0001250
33 cryptorchidism 33 occasional (7.5%) HP:0000028
34 anal atresia 33 occasional (7.5%) HP:0002023
35 rectovaginal fistula 33 occasional (7.5%) HP:0000143
36 proximal placement of thumb 33 occasional (7.5%) HP:0009623
37 omphalocele 33 occasional (7.5%) HP:0001539
38 genu valgum 33 HP:0002857
39 abnormal form of the vertebral bodies 60 Very frequent (99-80%)
40 atrial septal defect 33 HP:0001631
41 ventriculomegaly 33 HP:0002119
42 polyhydramnios 33 HP:0001561
43 abnormality of pelvic girdle bone morphology 60 Frequent (79-30%)
44 atrioventricular canal defect 33 HP:0006695
45 generalized hypotonia 33 HP:0001290
46 hypoplasia of the corpus callosum 33 HP:0002079
47 hypoplasia of the odontoid process 33 HP:0003311
48 squared iliac bones 33 HP:0003177
49 short phalanx of finger 33 HP:0009803
50 vocal cord paresis 33 HP:0001604

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
genu valgum
metaphyseal dysplasia
short humeri
delayed ossification of epiphyses
hypoplastic or absent epiphyses
more
Head And Neck Nose:
anteverted nares
flat nasal bridge
grooved nasal tip

Growth Weight:
short stature
length less than 5th percentile

Skeletal Pelvis:
congenital hip dislocation
square iliac bones
flat, irregular acetabular margins

Respiratory Larynx:
vocal cord paresis
glottic narrowing
vocal cord atrophy

Neurologic Central Nervous System:
developmental delay
hypotonia
seizures (rare)
thin corpus callosum
prominent cortical sulci
more
Head And Neck Teeth:
delayed tooth eruption
enamel dysplasia
abnormal cusp morphology

Skeletal:
delayed bone age
hypermobility of all joints

Abdomen Gastrointestinal:
imperforate anus (in some patients)
rectovaginal fistula (rare)

Skeletal Spine:
odontoid hypoplasia
vertebral coronal clefts (t11-s2)
thoracic and lumbar scoliosis

Head And Neck Face:
flattened midface

Abdomen Biliary Tract:
extrahepatic bile duct atresia (rare)

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

Head And Neck Eyes:
ptosis
cataract, postnatal, bilateral dense nuclear

Growth Height:
short stature

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
atrioventricular canal defect

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Feet:
pes valgus

Head And Neck Head:
broad skull

Skeletal Hands:
short metacarpals
short phalanges
delayed carpal ossification
proximally placed thumbs (rare)

Head And Neck Ears:
sensorineural hearing loss
overfolded, rumpled ears
impaired tympanic membrane mobility
low-frequency conductive hearing loss

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Abdomen External Features:
omphalocele (in some patients)

Head And Neck Mouth:
chronic sialorrhea
hemiatrophy of tongue (in some patients)

Genitourinary Ureters:
dilated ureter (rare)

Clinical features from OMIM:

600373

Drugs & Therapeutics for Codas Syndrome

Search Clinical Trials , NIH Clinical Center for Codas Syndrome

Genetic Tests for Codas Syndrome

Genetic tests related to Codas Syndrome:

# Genetic test Affiliating Genes
1 Codas Syndrome 30 LONP1

Anatomical Context for Codas Syndrome

MalaCards organs/tissues related to Codas Syndrome:

42
Bone, Eye, Tongue

Publications for Codas Syndrome

Articles related to Codas Syndrome:

# Title Authors Year
1
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. ( 28148925 )
2017
2
Opitz award-winning paper details genetic cause of CODAS syndrome: Research points to new categories of rare disorder. ( 27643968 )
2016
3
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. ( 25808063 )
2015
4
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. ( 25574826 )
2015
5
Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature. ( 11471171 )
2001
6
CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report. ( 7702089 )
1995
7
Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome--a case report. ( 1887855 )
1991

Variations for Codas Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 LONP1 p.Glu476Ala VAR_073338
2 LONP1 p.Ser631Tyr VAR_073339 rs879255248
3 LONP1 p.Ala670Val VAR_073340 rs770036526
4 LONP1 p.Arg672Cys VAR_073341 rs777009012
5 LONP1 p.Pro676Ser VAR_073342 rs879255247
6 LONP1 p.Arg679His VAR_073343 rs549574673
7 LONP1 p.Arg721Gly VAR_073344 rs147588238
8 LONP1 p.Ala724Val VAR_073345 rs879255249
9 LONP1 p.Pro749Ser VAR_073346
10 LONP1 p.Gly767Glu VAR_073347 rs562553348

ClinVar genetic disease variations for Codas Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LONP1 NM_004793.3(LONP1): c.2353A> G (p.Arg785Gly) single nucleotide variant Pathogenic rs730880293 GRCh38 Chromosome 19, 5693737: 5693737
2 LONP1 NM_004793.3(LONP1): c.2353A> G (p.Arg785Gly) single nucleotide variant Pathogenic rs730880293 GRCh37 Chromosome 19, 5693748: 5693748
3 LONP1 NM_004793.3(LONP1): c.2026C> T (p.Pro676Ser) single nucleotide variant Pathogenic rs879255247 GRCh37 Chromosome 19, 5694900: 5694900
4 LONP1 NM_004793.3(LONP1): c.2026C> T (p.Pro676Ser) single nucleotide variant Pathogenic rs879255247 GRCh38 Chromosome 19, 5694889: 5694889
5 LONP1 NM_004793.3(LONP1): c.1892C> A (p.Ser631Tyr) single nucleotide variant Pathogenic rs879255248 GRCh37 Chromosome 19, 5696264: 5696264
6 LONP1 NM_004793.3(LONP1): c.1892C> A (p.Ser631Tyr) single nucleotide variant Pathogenic rs879255248 GRCh38 Chromosome 19, 5696253: 5696253
7 LONP1 NM_004793.3(LONP1): c.2171C> T (p.Ala724Val) single nucleotide variant Pathogenic rs879255249 GRCh38 Chromosome 19, 5694536: 5694536
8 LONP1 NM_004793.3(LONP1): c.2171C> T (p.Ala724Val) single nucleotide variant Pathogenic rs879255249 GRCh37 Chromosome 19, 5694547: 5694547
9 LONP1 NM_004793.3(LONP1): c.796C> G (p.Leu266Val) single nucleotide variant Uncertain significance rs373284466 GRCh38 Chromosome 19, 5711845: 5711845
10 LONP1 NM_004793.3(LONP1): c.796C> G (p.Leu266Val) single nucleotide variant Uncertain significance rs373284466 GRCh37 Chromosome 19, 5711856: 5711856

Expression for Codas Syndrome

Search GEO for disease gene expression data for Codas Syndrome.

Pathways for Codas Syndrome

GO Terms for Codas Syndrome

Sources for Codas Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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