OCSKD
MCID: OCL073
MIFTS: 24

Oculoskeletodental Syndrome (OCSKD)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Oculoskeletodental Syndrome

MalaCards integrated aliases for Oculoskeletodental Syndrome:

Name: Oculoskeletodental Syndrome 57 73 6
Cataracts, Early-Onset, with Skeletal and Dental Anomalies 57 73
Ocskd 57 73
Oculo-Cerebro-Dental Syndrome 58
Oculocerebrodental Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable features may be present
some patients show evidence of cerebral infarction in the first decade of life


HPO:

31
oculoskeletodental syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Oculoskeletodental Syndrome

UniProtKB/Swiss-Prot : 73 Oculoskeletodental syndrome: An autosomal recessive syndrome characterized by congenital cataracts, short stature, dysmorphic features with coarse facies, dental anomalies, multiple skeletal abnormalities, and neurological manifestations. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis.

MalaCards based summary : Oculoskeletodental Syndrome, is also known as cataracts, early-onset, with skeletal and dental anomalies. An important gene associated with Oculoskeletodental Syndrome is PIK3C2A (Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha). Affiliated tissues include eye, thalamus and bone, and related phenotypes are coarse facial features and short stature

OMIM® : 57 Oculoskeletodental syndrome is characterized by congenital cataract, short stature and various skeletal anomalies, dysmorphic facial features and dental anomalies, developmental delay, and stroke. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis (Tiosano et al., 2019). (618440) (Updated 05-Mar-2021)

Related Diseases for Oculoskeletodental Syndrome

Symptoms & Phenotypes for Oculoskeletodental Syndrome

Human phenotypes related to Oculoskeletodental Syndrome:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 very rare (1%) Frequent (79-30%) HP:0000280
2 short stature 58 31 very rare (1%) Frequent (79-30%) HP:0004322
3 abnormality of mucopolysaccharide metabolism 58 31 frequent (33%) Frequent (79-30%) HP:0011020
4 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
5 neurodevelopmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0012758
6 glaucoma 58 31 very rare (1%) Frequent (79-30%) HP:0000501
7 nephrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000121
8 stroke 58 31 frequent (33%) Frequent (79-30%) HP:0001297
9 hypercalcemia 58 31 frequent (33%) Frequent (79-30%) HP:0003072
10 developmental cataract 58 31 very rare (1%) Frequent (79-30%) HP:0000519
11 abnormality of the frontal hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000599
12 scoliosis 58 31 very rare (1%) Occasional (29-5%) HP:0002650
13 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
14 delayed skeletal maturation 58 31 very rare (1%) Occasional (29-5%) HP:0002750
15 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
16 wide nasal bridge 58 31 very rare (1%) Occasional (29-5%) HP:0000431
17 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
18 thick nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0009928
19 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
20 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
21 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
22 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
23 hypocalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002901
24 broad columella 58 31 very rare (1%) Occasional (29-5%) HP:0010761
25 oligodontia 58 31 very rare (1%) Occasional (29-5%) HP:0000677
26 short 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009237
27 metaphyseal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100255
28 hypoplasia of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0006297
29 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
30 clinodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030084
31 thoracic kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002942
32 hypoplasia of the capital femoral epiphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003090
33 abnormality of thalamus morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010663
34 dysplastic corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0006989
35 focal white matter lesions 58 31 occasional (7.5%) Occasional (29-5%) HP:0007042
36 hearing impairment 58 31 very rare (1%) Frequent (79-30%) HP:0000365
37 hypothyroidism 31 very rare (1%) HP:0000821
38 global developmental delay 31 very rare (1%) HP:0001263
39 mucopolysacchariduria 31 very rare (1%) HP:0008155
40 cryptorchidism 31 very rare (1%) HP:0000028
41 renal agenesis 31 very rare (1%) HP:0000104
42 lacunar stroke 31 very rare (1%) HP:0032325
43 macroglossia 31 HP:0000158
44 splenomegaly 31 HP:0001744
45 hepatomegaly 31 HP:0002240
46 abnormality of the dentition 58 Frequent (79-30%)
47 abnormal facial shape 58 Frequent (79-30%)
48 low posterior hairline 31 HP:0002162
49 elbow flexion contracture 31 HP:0002987
50 hypercalciuria 31 HP:0002150

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
thoracic kyphosis
cervical lordosis
square-shaped vertebral bodies in lumbar spine

Head And Neck Mouth:
macroglossia

Abdomen Liver:
hepatomegaly

Head And Neck Face:
low posterior hairline
low anterior hairline
coarse facies

Head And Neck Teeth:
oligodontia
enamel defects
convex maxillary incisors
broad maxillary incisors
narrow mandibular teeth

Head And Neck Nose:
broad nasal bridge
thick alae nasi
thick columella

Head And Neck Ears:
hearing loss

Skeletal:
delayed bone age
discrepant bone development

Growth Weight:
low birth weight

Genitourinary Kidneys:
renal agenesis (rare)

Skeletal Hands:
shortened fifth digits
fifth-digit clinodactyly

Endocrine Features:
hypothyroidism

Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Laboratory Abnormalities:
hypercalciuria
hypocalcemia
hypercalcemia
elevated urinary mucopolysaccharide

Abdomen Gastrointestinal:
protein-losing enteropathy
duodenal lymphangiectasia
ileal lymphangiectasia

Neurologic Central Nervous System:
developmental delay
white matter lesions
cerebral infarction
selective mutism (rare)
nodular lesion of thalamus
more
Head And Neck Eyes:
epicanthal folds
congenital cataract
secondary glaucoma
duane syndrome

Chest External Features:
small thorax
pectus deformities

Skeletal Limbs:
broad, short femoral neck
contractures of elbows
reduced ossification of femoral heads
irregular ossification of femoral head
metaphyseal dysplasia of femoral heads
more
Skeletal Pelvis:
flat pelvis
subluxation of hips

Clinical features from OMIM®:

618440 (Updated 05-Mar-2021)

Drugs & Therapeutics for Oculoskeletodental Syndrome

Search Clinical Trials , NIH Clinical Center for Oculoskeletodental Syndrome

Genetic Tests for Oculoskeletodental Syndrome

Anatomical Context for Oculoskeletodental Syndrome

MalaCards organs/tissues related to Oculoskeletodental Syndrome:

40
Eye, Thalamus, Bone

Publications for Oculoskeletodental Syndrome

Articles related to Oculoskeletodental Syndrome:

# Title Authors PMID Year
1
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. 6 57
31034465 2019

Variations for Oculoskeletodental Syndrome

ClinVar genetic disease variations for Oculoskeletodental Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIK3C2A NM_002645.3(PIK3C2A):c.(?_1-1)_4007+1_4008-1)del Deletion Pathogenic 631522
2 PIK3C2A NM_002645.4(PIK3C2A):c.1640+1G>T SNV Pathogenic 599543 rs1565272952 11:17167409-17167409 11:17145862-17145862
3 PIK3C2A NM_001321380.2(PIK3C2A):c.-75-13528T>G SNV Likely pathogenic 631521 rs1565287817 11:17190704-17190704 11:17169157-17169157

Expression for Oculoskeletodental Syndrome

Search GEO for disease gene expression data for Oculoskeletodental Syndrome.

Pathways for Oculoskeletodental Syndrome

GO Terms for Oculoskeletodental Syndrome

Sources for Oculoskeletodental Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....