MCID: RJB001
MIFTS: 17

Rajab Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Rajab Syndrome

MalaCards integrated aliases for Rajab Syndrome:

Name: Rajab Syndrome 57 13 6 73
Developmental Delay, Small Stature, Microcephaly, and Brain Calcifications 57
Brain Calcification, Rajab Type 59

Characteristics:

Orphanet epidemiological data:

59
brain calcification, rajab type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
reduced exercise tolerance


HPO:

32
rajab syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613658
Orphanet 59 ORPHA178506
MedGen 42 C3150910
UMLS 73 C3150910

Summaries for Rajab Syndrome

MalaCards based summary : Rajab Syndrome, also known as developmental delay, small stature, microcephaly, and brain calcifications, is related to microcephaly, and has symptoms including headache An important gene associated with Rajab Syndrome is RJBS (Rajab Syndrome). Affiliated tissues include brain, bone and cortex, and related phenotypes are delayed skeletal maturation and microcephaly

Description from OMIM: 613658

Related Diseases for Rajab Syndrome

Diseases related to Rajab Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly 10.3

Symptoms & Phenotypes for Rajab Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Skeletal:
delayed bone age
thin cortex bone

Growth Weight:
thin build

Growth Height:
short stature
postnatal growth delay

Neurologic Central Nervous System:
headaches
learning difficulties
widespread brain calcifications

Muscle Soft Tissue:
poor muscle mass


Clinical features from OMIM:

613658

Human phenotypes related to Rajab Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 32 HP:0002750
2 microcephaly 32 HP:0000252
3 short stature 32 HP:0004322
4 headache 32 HP:0002315

UMLS symptoms related to Rajab Syndrome:


headache

Drugs & Therapeutics for Rajab Syndrome

Search Clinical Trials , NIH Clinical Center for Rajab Syndrome

Genetic Tests for Rajab Syndrome

Anatomical Context for Rajab Syndrome

MalaCards organs/tissues related to Rajab Syndrome:

41
Brain, Bone, Cortex

Publications for Rajab Syndrome

Articles related to Rajab Syndrome:

# Title Authors Year
1
Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. ( 19161147 )
2009

Variations for Rajab Syndrome

ClinVar genetic disease variations for Rajab Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FARSB NM_005687.4(FARSB): c.853G> A (p.Glu285Lys) single nucleotide variant Likely pathogenic rs767956337 GRCh37 Chromosome 2, 223493603: 223493603
2 Uncertain significance NC_000007.12: g.69828223_69859679del31457 deletion 0 rsRCV000677154 Chromosome 7, 69828223:69859679 559457
3 FARSB NM_005687.4(FARSB): c.853G> A (p.Glu285Lys) single nucleotide variant Likely pathogenic rs767956337 GRCh38 Chromosome 2, 222628884: 222628884

Expression for Rajab Syndrome

Search GEO for disease gene expression data for Rajab Syndrome.

Pathways for Rajab Syndrome

GO Terms for Rajab Syndrome

Sources for Rajab 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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