JABELS
MCID: JBR046
MIFTS: 25

Jaberi-Elahi Syndrome (JABELS)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Jaberi-Elahi Syndrome

MalaCards integrated aliases for Jaberi-Elahi Syndrome:

Name: Jaberi-Elahi Syndrome 57 72 29 6
Jabels 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
variable severity
non-progressive disorder


HPO:

31
jaberi-elahi syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



Summaries for Jaberi-Elahi Syndrome

OMIM® : 57 JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018). (617988) (Updated 05-Apr-2021)

MalaCards based summary : Jaberi-Elahi Syndrome, is also known as jabels. An important gene associated with Jaberi-Elahi Syndrome is GTPBP2 (GTP Binding Protein 2). Affiliated tissues include globus pallidus and brain, and related phenotypes are failure to thrive and cataract

UniProtKB/Swiss-Prot : 72 Jaberi-Elahi syndrome: An autosomal recessive disorder characterized by developmental delay and intellectual disability. Additional variable features include ataxic gait and abnormal movements, visual impairment, microcephaly, abnormal foot or hand posturing, kyphoscoliosis, dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum.

Related Diseases for Jaberi-Elahi Syndrome

Symptoms & Phenotypes for Jaberi-Elahi Syndrome

Human phenotypes related to Jaberi-Elahi Syndrome:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 cataract 31 very rare (1%) HP:0000518
3 seizure 31 very rare (1%) HP:0001250
4 intellectual disability 31 HP:0001249
5 spasticity 31 HP:0001257
6 agenesis of corpus callosum 31 HP:0001274
7 hyperreflexia 31 HP:0001347
8 scoliosis 31 HP:0002650
9 tremor 31 HP:0001337
10 kyphosis 31 HP:0002808
11 global developmental delay 31 HP:0001263
12 depressed nasal bridge 31 HP:0005280
13 abnormality of the dentition 31 HP:0000164
14 joint stiffness 31 HP:0001387
15 abnormal facial shape 31 HP:0001999
16 short nose 31 HP:0003196
17 microcephaly 31 HP:0000252
18 visual impairment 31 HP:0000505
19 optic atrophy 31 HP:0000648
20 low-set ears 31 HP:0000369
21 myopia 31 HP:0000545
22 talipes equinovarus 31 HP:0001762
23 joint hypermobility 31 HP:0001382
24 protruding ear 31 HP:0000411
25 dysmetria 31 HP:0001310
26 dystonia 31 HP:0001332
27 gait ataxia 31 HP:0002066
28 cerebellar atrophy 31 HP:0001272
29 choreoathetosis 31 HP:0001266
30 hand clenching 31 HP:0001188
31 sparse eyebrow 31 HP:0045075
32 sparse eyelashes 31 HP:0000653
33 generalized hypotonia 31 HP:0001290
34 distal muscle weakness 31 HP:0002460
35 inability to walk 31 HP:0002540
36 triangular mouth 31 HP:0000207
37 narrow forehead 31 HP:0000341

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
tremor
dysmetria
dystonia
more
Head And Neck Nose:
depressed nasal bridge
small nose

Head And Neck Head:
microcephaly

Head And Neck Ears:
low-set ears
prominent ears

Head And Neck Mouth:
triangular mouth

Muscle Soft Tissue:
hypotonia
muscle weakness, distal, mild, variable

Head And Neck Teeth:
abnormal dentition

Skin Nails Hair Skin:
skin mottling

Chest External Features:
pectus abnormalities

Laboratory Abnormalities:
iron parameters are low normal (family a)

Skeletal Spine:
scoliosis
kyphosis

Skeletal:
joint stiffness
joint hypermobility

Head And Neck Eyes:
visual impairment
optic atrophy
myopia
sparse eyelashes
sparse eyebrows
more
Skeletal Feet:
talipes
equinovarus
abnormal foot posture

Skin Nails Hair Hair:
thin, sparse hair

Head And Neck Face:
bitemporal narrowing
dysmorphic facial features, variable

Skeletal Hands:
clenched hands
abnormal hand posture

Growth Other:
failure to thrive (1 patient)
poor overall growth, variable

Neurologic Peripheral Nervous System:
hyporeflexia at the ankles

Clinical features from OMIM®:

617988 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Jaberi-Elahi Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with Ras GR00018-A-0 8.62 GTPBP2 POLR1C

Drugs & Therapeutics for Jaberi-Elahi Syndrome

Search Clinical Trials , NIH Clinical Center for Jaberi-Elahi Syndrome

Genetic Tests for Jaberi-Elahi Syndrome

Genetic tests related to Jaberi-Elahi Syndrome:

# Genetic test Affiliating Genes
1 Jaberi-Elahi Syndrome 29 GTPBP2

Anatomical Context for Jaberi-Elahi Syndrome

MalaCards organs/tissues related to Jaberi-Elahi Syndrome:

40
Globus Pallidus, Brain

Publications for Jaberi-Elahi Syndrome

Articles related to Jaberi-Elahi Syndrome:

# Title Authors PMID Year
1
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability. 6 57
29449720 2018
2
Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain. 57
26675814 2016

Variations for Jaberi-Elahi Syndrome

ClinVar genetic disease variations for Jaberi-Elahi Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GTPBP2 , POLR1C NM_019096.5(GTPBP2):c.1237-1G>T SNV Pathogenic 544686 rs1554143424 GRCh37: 6:43591533-43591533
GRCh38: 6:43623796-43623796
2 GTPBP2 , POLR1C NM_019096.5(GTPBP2):c.430C>T (p.Arg144Ter) SNV Pathogenic 544687 rs1554143844 GRCh37: 6:43593570-43593570
GRCh38: 6:43625833-43625833
3 GTPBP2 , POLR1C NM_019096.5(GTPBP2):c.1219C>T (p.Gln407Ter) SNV Pathogenic 544688 rs1554143448 GRCh37: 6:43591687-43591687
GRCh38: 6:43623950-43623950
4 GTPBP2 , POLR1C NM_019096.5(GTPBP2):c.1408C>T (p.Arg470Ter) SNV Pathogenic 544689 rs1007812513 GRCh37: 6:43590429-43590429
GRCh38: 6:43622692-43622692
5 GTPBP2 , POLR1C NM_019096.5(GTPBP2):c.1236+1G>A SNV Likely pathogenic 800941 rs1252019134 GRCh37: 6:43591669-43591669
GRCh38: 6:43623932-43623932
6 GTPBP2 , POLR1C NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs) Microsatellite Likely pathogenic 974842 GRCh37: 6:43589844-43589845
GRCh38: 6:43622107-43622108

Expression for Jaberi-Elahi Syndrome

Search GEO for disease gene expression data for Jaberi-Elahi Syndrome.

Pathways for Jaberi-Elahi Syndrome

GO Terms for Jaberi-Elahi Syndrome

Sources for Jaberi-Elahi 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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