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 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 microcephaly and headache

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 10.1

Symptoms & Phenotypes for Rajab Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
postnatal growth delay
short stature

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
poor muscle mass

Growth Weight:
thin build

Skeletal:
thin cortex bone
delayed bone age

Neurologic Central Nervous System:
widespread brain calcifications
headaches
learning difficulties


Clinical features from OMIM:

613658

Human phenotypes related to Rajab Syndrome:

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

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

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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