OCSKD
MCID: OCL073
MIFTS: 19

Oculoskeletodental Syndrome (OCSKD)

Categories: Bone diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Oculoskeletodental Syndrome

MalaCards integrated aliases for Oculoskeletodental Syndrome:

Name: Oculoskeletodental Syndrome 57 74 6
Cataracts, Early-Onset, with Skeletal and Dental Anomalies 57 74
Ocskd 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
oculoskeletodental syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 618440
MeSH 44 D000015
MedGen 42 CN258760

Summaries for Oculoskeletodental Syndrome

UniProtKB/Swiss-Prot : 74 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 and thalamus, and related phenotypes are hypothyroidism and scoliosis

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)

Related Diseases for Oculoskeletodental Syndrome

Symptoms & Phenotypes for Oculoskeletodental Syndrome

Human phenotypes related to Oculoskeletodental Syndrome:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 32 very rare (1%) HP:0000821
2 scoliosis 32 very rare (1%) HP:0002650
3 coarse facial features 32 very rare (1%) HP:0000280
4 hearing impairment 32 very rare (1%) HP:0000365
5 global developmental delay 32 very rare (1%) HP:0001263
6 delayed skeletal maturation 32 very rare (1%) HP:0002750
7 wide nasal bridge 32 very rare (1%) HP:0000431
8 short stature 32 very rare (1%) HP:0004322
9 mucopolysacchariduria 32 very rare (1%) HP:0008155
10 cryptorchidism 32 very rare (1%) HP:0000028
11 glaucoma 32 very rare (1%) HP:0000501
12 broad columella 32 very rare (1%) HP:0010761
13 oligodontia 32 very rare (1%) HP:0000677
14 developmental cataract 32 very rare (1%) HP:0000519
15 lacunar stroke 32 very rare (1%) HP:0032325

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypothyroidism

Head And Neck Mouth:
macroglossia

Abdomen Liver:
hepatomegaly

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

Abdomen Gastrointestinal:
protein-losing enteropathy
duodenal lymphangiectasia
ileal lymphangiectasia

Head And Neck Eyes:
congenital cataract
epicanthal folds
secondary glaucoma
duane syndrome

Neurologic Central Nervous System:
developmental delay
white matter lesions
cerebral infarction
selective mutism (rare)
nodular lesion of thalamus
more
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

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

Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Laboratory Abnormalities:
hypercalciuria
hypocalcemia
hypercalcemia
elevated urinary mucopolysaccharide

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

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:

41
Bone, Thalamus

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. 8 71
31034465 2019

Variations for Oculoskeletodental Syndrome

ClinVar genetic disease variations for Oculoskeletodental Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PIK3C2A NM_002645.4(PIK3C2A): c.1640+1G> T single nucleotide variant Pathogenic 11:17167409-17167409 11:17145862-17145862
2 PIK3C2A NM_001321380.2(PIK3C2A): c.-75-13528T> G single nucleotide variant Pathogenic 11:17190704-17190704 11:17169157-17169157
3 PIK3C2A NM_002645.3(PIK3C2A): c.(?_1-1)_4007+1_4008-1)del deletion Pathogenic

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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