CODASS
MCID: CDS002
MIFTS: 34

Codas Syndrome (CODASS)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Codas Syndrome

MalaCards integrated aliases for Codas Syndrome:

Name: Codas Syndrome 57 12 53 59 74 37 29 6 44 72
Cerebral, Ocular, Dental, Auricular, and Skeletal Anomalies Syndrome 57 74
Cerebral, Ocular, Dental, Auricular, and Skeletal Syndrome 12 53
Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome 12 53
Syndrome, Cerebral, Ocular, Dental, Auricular, Skeletal 40
Cerebrooculodentoauriculoskeletal Syndrome 59
Codass 74

Characteristics:

Orphanet epidemiological data:

59
codas syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
codas syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111274
OMIM 57 600373
KEGG 37 H01824
MESH via Orphanet 45 C536434
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1838180
Orphanet 59 ORPHA1458
MedGen 42 C1838180
UMLS 72 C1838180

Summaries for Codas Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1458DefinitionCodas 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 cataract. An important gene associated with Codas Syndrome is LONP1 (Lon Peptidase 1, Mitochondrial). Affiliated tissues include bone, tongue and eye, and related phenotypes are abnormality of epiphysis morphology and cataract

Disease Ontology : 12 An autosomal recessive disease characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has material basis in homozygous or compound heterozygous mutation in LONP1 on 19p13.3.

OMIM : 57 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)

KEGG : 37
CODAS (cerebral, ocular, dental, auricular, skeletal anomalies) syndrome is a rare multiple congenital anomalies syndrome. The anomalies referred to in the acronym are as follows: cerebral-developmental delay, ocular-cataracts, dental-aberrant cusp morphology and delayed eruption, auricular-malformations of the external ear, and skeletal-spondyloepiphyseal dysplasia. The disorder is highly distinctive with characteristic features consisting of developmental delay, cataracts, unusual enamel projections, overfolded and crumpled ears, epiphyseal dysplasia, and dysmorphic features (grooved nose, ptosis). Recently, mutations in LONP1 gene have been mapped and identified as causative of this disorder. LONP1 encodes Lon protease, a homohexameric enzyme that mediates protein quality control, respiratory-complex assembly, gene expression, and stress responses in mitochondria.

UniProtKB/Swiss-Prot : 74 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

Graphical network of the top 20 diseases related to Codas Syndrome:



Diseases related to Codas Syndrome

Symptoms & Phenotypes for Codas Syndrome

Human phenotypes related to Codas Syndrome:

59 32 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 cataract 59 32 very rare (1%) Very frequent (99-80%) HP:0000518
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
5 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
6 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
7 anteverted nares 59 32 very rare (1%) Very frequent (99-80%) HP:0000463
8 short stature 59 32 very rare (1%) Very frequent (99-80%) HP:0004322
9 delayed eruption of teeth 59 32 very rare (1%) Very frequent (99-80%) HP:0000684
10 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
11 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
12 overfolded helix 59 32 hallmark (90%) Very frequent (99-80%) HP:0000396
13 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
14 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
15 abnormality of dental morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0006482
16 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
17 crumpled ear 59 32 very rare (1%) Very frequent (99-80%) HP:0009901
18 coronal cleft vertebrae 59 32 very rare (1%) Very frequent (99-80%) HP:0003417
19 midline defect of the nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0004122
20 ptosis 59 32 very rare (1%) Frequent (79-30%) HP:0000508
21 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
22 scoliosis 59 32 very rare (1%) Frequent (79-30%) HP:0002650
23 sensorineural hearing impairment 59 32 very rare (1%) Frequent (79-30%) HP:0000407
24 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
25 congenital hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001374
26 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
27 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
28 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
29 hydroureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000072
30 abnormality of the larynx 59 32 occasional (7.5%) Occasional (29-5%) HP:0001600
31 extrahepatic biliary duct atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005242
32 proximal placement of thumb 32 occasional (7.5%) HP:0009623
33 genu valgum 32 very rare (1%) HP:0002857
34 intellectual disability 32 very rare (1%) HP:0001249
35 seizures 32 very rare (1%) HP:0001250
36 gastroesophageal reflux 32 very rare (1%) HP:0002020
37 generalized hypotonia 32 very rare (1%) HP:0001290
38 cryptorchidism 32 very rare (1%) HP:0000028
39 atrial septal defect 32 very rare (1%) HP:0001631
40 motor delay 32 very rare (1%) HP:0001270
41 conductive hearing impairment 32 very rare (1%) HP:0000405
42 anal atresia 32 very rare (1%) HP:0002023
43 rectovaginal fistula 32 very rare (1%) HP:0000143
44 omphalocele 32 very rare (1%) HP:0001539
45 hypoplasia of the odontoid process 32 very rare (1%) HP:0003311
46 vocal cord paresis 32 very rare (1%) HP:0001604
47 pes valgus 32 very rare (1%) HP:0008081
48 metaphyseal dysplasia 32 very rare (1%) HP:0100255
49 hypoplasia of dental enamel 32 very rare (1%) HP:0006297
50 abnormal form of the vertebral bodies 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
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

Head And Neck Head:
broad skull

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

Neurologic Central Nervous System:
developmental delay
hypotonia
seizures (rare)
thin corpus callosum
prominent cortical sulci
more
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

Cochrane evidence based reviews: codas syndrome

Genetic Tests for Codas Syndrome

Genetic tests related to Codas Syndrome:

# Genetic test Affiliating Genes
1 Codas Syndrome 29 LONP1

Anatomical Context for Codas Syndrome

MalaCards organs/tissues related to Codas Syndrome:

41
Bone, Tongue, Eye

Publications for Codas Syndrome

Articles related to Codas Syndrome:

(show all 15)
# Title Authors PMID Year
1
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. 38 8 71
25574826 2015
2
Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome--a case report. 38 8 71
1887855 1991
3
Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis. 38 8
20503327 2010
4
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. 38 8
11471171 2001
5
CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report. 38 8
7702089 1995
6
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. 8
26598328 2015
7
Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report. 38
31169704 2019
8
Clinical features of LONP1-related infantile cataract. 38
29408517 2018
9
Defective mitochondrial protease LonP1 can cause classical mitochondrial disease. 38
29518248 2018
10
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. 38
28148925 2017
11
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. 38
27102849 2017
12
Opitz award-winning paper details genetic cause of CODAS syndrome: Research points to new categories of rare disorder. 38
27643968 2016
13
Emerging role of Lon protease as a master regulator of mitochondrial functions. 38
27033304 2016
14
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. 38
25808063 2015
15
[CODAS syndrome]. 38
11462519 2001

Variations for Codas Syndrome

ClinVar genetic disease variations for Codas Syndrome:

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

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

74
# 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

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

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70 TGDB
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73 UMLS via Orphanet
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