MCID: JBR046
MIFTS: 13

Jaberi-Elahi Syndrome

Categories: Genetic diseases

Aliases & Classifications for Jaberi-Elahi Syndrome

MalaCards integrated aliases for Jaberi-Elahi Syndrome:

Name: Jaberi-Elahi Syndrome 57 6
Jabels 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
non-progressive disorder


Classifications:



External Ids:

OMIM 57 617988

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)

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 brain, globus pallidus and skin.

Related Diseases for Jaberi-Elahi Syndrome

Symptoms & Phenotypes for Jaberi-Elahi Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
prominent ears

Skeletal Spine:
scoliosis
kyphosis

Skeletal:
joint stiffness
joint hypermobility

Head And Neck Eyes:
visual impairment
optic atrophy
myopia
sparse eyelashes
sparse eyebrows
more
Head And Neck Mouth:
triangular mouth

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

Skin Nails Hair Skin:
skin mottling

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

Neurologic Central Nervous System:
spasticity
tremor
hyperreflexia
dysmetria
dystonia
more
Head And Neck Nose:
depressed nasal bridge
small nose

Head And Neck Head:
microcephaly

Skeletal Feet:
talipes
equinovarus
abnormal foot posture

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

Head And Neck Teeth:
abnormal dentition

Skin Nails Hair Hair:
thin, sparse hair

Chest External Features:
pectus abnormalities

Neurologic Peripheral Nervous System:
hyporeflexia at the ankles


Clinical features from OMIM:

617988

Drugs & Therapeutics for Jaberi-Elahi Syndrome

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

Genetic Tests for Jaberi-Elahi Syndrome

Anatomical Context for Jaberi-Elahi Syndrome

MalaCards organs/tissues related to Jaberi-Elahi Syndrome:

41
Brain, Globus Pallidus, Skin

Publications for Jaberi-Elahi Syndrome

Variations for Jaberi-Elahi Syndrome

ClinVar genetic disease variations for Jaberi-Elahi Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GTPBP2 NM_019096.4(GTPBP2): c.1237-1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 6, 43591533: 43591533
2 GTPBP2 NM_019096.4(GTPBP2): c.1237-1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 6, 43623796: 43623796
3 GTPBP2 NM_019096.4(GTPBP2): c.430C> T (p.Arg144Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 43625833: 43625833
4 GTPBP2 NM_019096.4(GTPBP2): c.430C> T (p.Arg144Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 43593570: 43593570
5 GTPBP2 NM_019096.4(GTPBP2): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 43623950: 43623950
6 GTPBP2 NM_019096.4(GTPBP2): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 43591687: 43591687
7 GTPBP2 NM_019096.4(GTPBP2): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs1007812513 GRCh38 Chromosome 6, 43622692: 43622692
8 GTPBP2 NM_019096.4(GTPBP2): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs1007812513 GRCh37 Chromosome 6, 43590429: 43590429

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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