OCSKD
MCID: OCL073
MIFTS: 23

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 56 73 6
Cataracts, Early-Onset, with Skeletal and Dental Anomalies 56 73
Ocskd 56 73
Oculo-Cerebro-Dental Syndrome 58
Oculocerebrodental Syndrome 58

Characteristics:

OMIM:

56
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 bone, thalamus and eye, and related phenotypes are coarse facial features and hearing impairment

OMIM : 56 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)

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 hearing impairment 58 31 very rare (1%) Frequent (79-30%) HP:0000365
3 delayed skeletal maturation 58 31 very rare (1%) Occasional (29-5%) HP:0002750
4 scoliosis 58 31 very rare (1%) Occasional (29-5%) HP:0002650
5 wide nasal bridge 58 31 very rare (1%) Occasional (29-5%) HP:0000431
6 short stature 58 31 very rare (1%) Frequent (79-30%) HP:0004322
7 glaucoma 58 31 very rare (1%) Frequent (79-30%) HP:0000501
8 broad columella 58 31 very rare (1%) Occasional (29-5%) HP:0010761
9 oligodontia 58 31 very rare (1%) Occasional (29-5%) HP:0000677
10 developmental cataract 58 31 very rare (1%) Frequent (79-30%) HP:0000519
11 global developmental delay 31 very rare (1%) HP:0001263
12 mucopolysacchariduria 31 very rare (1%) HP:0008155
13 hypothyroidism 31 very rare (1%) HP:0000821
14 cryptorchidism 31 very rare (1%) HP:0000028
15 renal agenesis 31 very rare (1%) HP:0000104
16 lacunar stroke 31 very rare (1%) HP:0032325
17 epicanthus 58 31 Occasional (29-5%) HP:0000286
18 hypocalcemia 58 31 Occasional (29-5%) HP:0002901
19 hypercalcemia 58 31 Frequent (79-30%) HP:0003072
20 thoracic kyphosis 58 31 Occasional (29-5%) HP:0002942
21 macroglossia 31 HP:0000158
22 splenomegaly 31 HP:0001744
23 hepatomegaly 31 HP:0002240
24 depressed nasal bridge 58 Occasional (29-5%)
25 abnormality of the dentition 58 Frequent (79-30%)
26 abnormal facial shape 58 Frequent (79-30%)
27 sensorineural hearing impairment 58 Occasional (29-5%)
28 thick nasal alae 58 Occasional (29-5%)
29 microdontia 58 Occasional (29-5%)
30 abnormality of mucopolysaccharide metabolism 58 Frequent (79-30%)
31 hyperlordosis 58 Occasional (29-5%)
32 retrognathia 58 Occasional (29-5%)
33 specific learning disability 58 Frequent (79-30%)
34 low posterior hairline 31 HP:0002162
35 neurodevelopmental delay 58 Frequent (79-30%)
36 elbow flexion contracture 31 HP:0002987
37 conductive hearing impairment 58 Occasional (29-5%)
38 nephrocalcinosis 58 Frequent (79-30%)
39 hypercalciuria 31 HP:0002150
40 low anterior hairline 31 HP:0000294
41 stroke 58 Frequent (79-30%)
42 abnormality of the sternum 31 HP:0000766
43 small for gestational age 31 HP:0001518
44 thoracic hypoplasia 31 HP:0005257
45 short 5th finger 58 Occasional (29-5%)
46 metaphyseal dysplasia 58 Occasional (29-5%)
47 hypoplasia of dental enamel 58 Occasional (29-5%)
48 mutism 58 Occasional (29-5%)
49 short femoral neck 31 HP:0100864
50 clinodactyly 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
macroglossia

Abdomen Liver:
hepatomegaly

Growth Height:
short stature

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

Abdomen Spleen:
splenomegaly

Skeletal Spine:
scoliosis
thoracic kyphosis
cervical lordosis
square-shaped vertebral bodies in lumbar spine

Endocrine Features:
hypothyroidism

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

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
Bone, Thalamus, Eye

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 56
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_002645.4(PIK3C2A):c.1640+1G>TSNV Pathogenic 599543 rs1565272952 11:17167409-17167409 11:17145862-17145862
2 PIK3C2A NM_002645.3(PIK3C2A):c.(?_1-1)_4007+1_4008-1)deldeletion Pathogenic 631522
3 PIK3C2A NM_001321380.2(PIK3C2A):c.-75-13528T>GSNV 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
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
Content
Loading form....