SHILCA
MCID: SPN450
MIFTS: 17

Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis (SHILCA)

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss,...

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis:

Name: Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis 57 6
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Intellectual Developmental Disorder, and Leber Congenital Amaurosis 57
Shilca Syndrome 57
Shilca 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


Classifications:



External Ids:

OMIM® 57 619260

Summaries for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss,...

OMIM® : 57 SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI (Bedoni et al., 2020). (619260) (Updated 20-May-2021)

MalaCards based summary : Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis, also known as spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and leber congenital amaurosis, is related to alacrima, achalasia, and mental retardation syndrome and autosomal recessive disease. An important gene associated with Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis is NMNAT1 (Nicotinamide Nucleotide Adenylyltransferase 1). Affiliated tissues include cerebellum.

Related Diseases for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss,...

Diseases related to Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.1
2 autosomal recessive disease 10.1
3 leber plus disease 10.1
4 sensorineural hearing loss 10.1
5 leber congenital amaurosis 9 9.9
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9

Graphical network of the top 20 diseases related to Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis:



Diseases related to Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss,...

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
notching of vertebral bodies

Growth Height:
short stature

Neurologic Central Nervous System:
cerebellar atrophy
foramen magnum stenosis
ataxic gait
thin optic nerves
corpus callosum hypoplasia
more
Head And Neck Face:
coarse facies

Chest External Features:
short trunk

Head And Neck Ears:
hearing loss, sensorineural, mild to severe

Head And Neck Eyes:
nystagmus
cataract
strabismus
macular coloboma
pale optic disc
more
Skeletal Pelvis:
large iliac wings
acetabular dysplasia
wide iliac wings
femoral head dysplasia

Head And Neck Teeth:
irregular dentition

Skeletal:
delayed ossification

Head And Neck Nose:
deep nasal bridge

Skeletal Hands:
reduction in carpal height, mild
carpal dysplasia

Clinical features from OMIM®:

619260 (Updated 20-May-2021)

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss,...

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis

Genetic Tests for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss,...

Anatomical Context for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss,...

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis:

40
Cerebellum

Publications for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss,...

Articles related to Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis:

# Title Authors PMID Year
1
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. 57 6 61
32533184 2020
2
New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform. 57 61
33668384 2021

Variations for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss,...

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NMNAT1 NM_022787.4:c.299+256_*968dup Duplication Pathogenic 1050789 GRCh37:
GRCh38:
2 NMNAT1 NM_022787.4(NMNAT1):c.439+5G>T SNV Pathogenic 1050790 GRCh37: 1:10041233-10041233
GRCh38: 1:9981175-9981175

Expression for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss,...

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis.

Pathways for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss,...

GO Terms for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss,...

Sources for Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss,...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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