MCID: JWD001
MIFTS: 24

Jawad Syndrome

Categories: Genetic diseases, Neuronal diseases, Oral diseases, Mental diseases

Aliases & Classifications for Jawad Syndrome

MalaCards integrated aliases for Jawad Syndrome:

Name: Jawad Syndrome 57 75 13 40
Microcephaly with Mental Retardation and Digital Anomalies 57 75 29 6
Kelly Syndrome 57 75
Jwds 57 75
Microcephaly-Digital Anomalies Syndrome 73
Plummer-Vinson Syndrome 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
jawad syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Jawad Syndrome

UniProtKB/Swiss-Prot : 75 Jawad syndrome: A syndrome characterized by congenital microcephaly, moderately severe mental retardation, and symmetrical digital anomalies. Digital malformations of variable degree include hallux valgus, syndactyly of toes 4 and 5, short fifth fingers, single flexion crease of fifth fingers, polydactyly and synpolydactyly.

MalaCards based summary : Jawad Syndrome, also known as microcephaly with mental retardation and digital anomalies, is related to schmitt gillenwater kelly syndrome and plummer vinson syndrome. An important gene associated with Jawad Syndrome is RBBP8 (RB Binding Protein 8, Endonuclease), and among its related pathways/superpathways is Cell Cycle, Mitotic. Related phenotypes are intellectual disability and retrognathia

Description from OMIM: 251255

Related Diseases for Jawad Syndrome

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

# Related Disease Score Top Affiliating Genes
1 schmitt gillenwater kelly syndrome 12.3
2 plummer vinson syndrome 11.6
3 radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema 10.9
4 microcephaly 9.9

Symptoms & Phenotypes for Jawad Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
retrognathia

Skeletal Feet:
hallux valgus
syndactyly
slender fourth metatarsal
absence of a middle phalanx on toes 4 and 5

Skeletal Spine:
thoracic scoliosis

Neurologic Central Nervous System:
mental retardation

Skeletal Hands:
brachydactyly of the fifth fingers
single flexion crease in the fifth fingers
lack of the distal interphalangeal crease in the fourth fingers
shortness of the fourth and fifth metacarpals
fusion of the fifth middle and distal phalanges

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Head And Neck Nose:
prominent nose

Head And Neck Head:
congenital microcephaly

Skeletal Limbs:
limited extension of the elbows
limited supination


Clinical features from OMIM:

251255

Human phenotypes related to Jawad Syndrome:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 retrognathia 32 HP:0000278
3 aggressive behavior 32 HP:0000718
4 hallux valgus 32 HP:0001822
5 prominent nose 32 HP:0000448
6 short middle phalanx of the 5th finger 32 HP:0004220
7 thoracic scoliosis 32 HP:0002943
8 congenital microcephaly 32 HP:0011451
9 single interphalangeal crease of fifth finger 32 HP:0006216
10 4-5 toe syndactyly 32 HP:0004692
11 absent fourth finger distal interphalangeal crease 32 HP:0005780

Drugs & Therapeutics for Jawad Syndrome

Search Clinical Trials , NIH Clinical Center for Jawad Syndrome

Genetic Tests for Jawad Syndrome

Genetic tests related to Jawad Syndrome:

# Genetic test Affiliating Genes
1 Microcephaly with Mental Retardation and Digital Anomalies 29 RBBP8

Anatomical Context for Jawad Syndrome

Publications for Jawad Syndrome

Articles related to Jawad Syndrome:

# Title Authors Year
1
CtIP mutations cause Seckel and Jawad syndromes. ( 21998596 )
2011
2
A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2. ( 18071751 )
2008

Variations for Jawad Syndrome

ClinVar genetic disease variations for Jawad Syndrome:

6
(show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 RBBP8 NM_002894.2(RBBP8): c.1808_1809delTA (p.Ile603Lysfs) deletion Pathogenic rs587776884 GRCh38 Chromosome 18, 22993635: 22993636
2 RBBP8 NM_002894.2(RBBP8): c.1808_1809delTA (p.Ile603Lysfs) deletion Pathogenic rs587776884 GRCh37 Chromosome 18, 20573598: 20573599
3 RBBP8 NM_002894.2(RBBP8): c.1902T> C (p.Cys634=) single nucleotide variant Conflicting interpretations of pathogenicity rs201620586 GRCh37 Chromosome 18, 20573773: 20573773
4 RBBP8 NM_002894.2(RBBP8): c.1902T> C (p.Cys634=) single nucleotide variant Conflicting interpretations of pathogenicity rs201620586 GRCh38 Chromosome 18, 22993810: 22993810
5 RBBP8 NM_002894.2(RBBP8): c.2455-4T> G single nucleotide variant Uncertain significance rs374660795 GRCh38 Chromosome 18, 23022125: 23022125
6 RBBP8 NM_002894.2(RBBP8): c.2455-4T> G single nucleotide variant Uncertain significance rs374660795 GRCh37 Chromosome 18, 20602088: 20602088
7 RBBP8 NM_002894.2(RBBP8): c.-265C> T single nucleotide variant Uncertain significance rs886053654 GRCh38 Chromosome 18, 22933398: 22933398
8 RBBP8 NM_002894.2(RBBP8): c.-265C> T single nucleotide variant Uncertain significance rs886053654 GRCh37 Chromosome 18, 20513361: 20513361
9 RBBP8 NM_002894.2(RBBP8): c.-250G> A single nucleotide variant Uncertain significance rs115479920 GRCh38 Chromosome 18, 22933413: 22933413
10 RBBP8 NM_002894.2(RBBP8): c.-250G> A single nucleotide variant Uncertain significance rs115479920 GRCh37 Chromosome 18, 20513376: 20513376
11 RBBP8 NM_002894.2(RBBP8): c.-180G> A single nucleotide variant Uncertain significance rs529532376 GRCh37 Chromosome 18, 20513446: 20513446
12 RBBP8 NM_002894.2(RBBP8): c.-180G> A single nucleotide variant Uncertain significance rs529532376 GRCh38 Chromosome 18, 22933483: 22933483
13 RBBP8 NM_002894.2(RBBP8): c.1260T> C (p.Asn420=) single nucleotide variant Uncertain significance rs886053660 GRCh37 Chromosome 18, 20573050: 20573050
14 RBBP8 NM_002894.2(RBBP8): c.1260T> C (p.Asn420=) single nucleotide variant Uncertain significance rs886053660 GRCh38 Chromosome 18, 22993087: 22993087
15 RBBP8 NM_002894.2(RBBP8): c.1290T> A (p.Thr430=) single nucleotide variant Uncertain significance rs74565999 GRCh37 Chromosome 18, 20573080: 20573080
16 RBBP8 NM_002894.2(RBBP8): c.1290T> A (p.Thr430=) single nucleotide variant Uncertain significance rs74565999 GRCh38 Chromosome 18, 22993117: 22993117
17 RBBP8 NM_002894.2(RBBP8): c.1386A> G (p.Gln462=) single nucleotide variant Uncertain significance rs112405175 GRCh37 Chromosome 18, 20573176: 20573176
18 RBBP8 NM_002894.2(RBBP8): c.1386A> G (p.Gln462=) single nucleotide variant Uncertain significance rs112405175 GRCh38 Chromosome 18, 22993213: 22993213
19 RBBP8 NM_002894.2(RBBP8): c.2516G> A (p.Arg839Gln) single nucleotide variant Uncertain significance rs140196819 GRCh38 Chromosome 18, 23022190: 23022190
20 RBBP8 NM_002894.2(RBBP8): c.2516G> A (p.Arg839Gln) single nucleotide variant Uncertain significance rs140196819 GRCh37 Chromosome 18, 20602153: 20602153
21 RBBP8 NM_002894.2(RBBP8): c.*168T> A single nucleotide variant Uncertain significance rs551351149 GRCh38 Chromosome 18, 23026408: 23026408
22 RBBP8 NM_002894.2(RBBP8): c.*168T> A single nucleotide variant Uncertain significance rs551351149 GRCh37 Chromosome 18, 20606371: 20606371
23 RBBP8 NM_002894.2(RBBP8): c.-253G> A single nucleotide variant Uncertain significance rs886053655 GRCh38 Chromosome 18, 22933410: 22933410
24 RBBP8 NM_002894.2(RBBP8): c.-253G> A single nucleotide variant Uncertain significance rs886053655 GRCh37 Chromosome 18, 20513373: 20513373
25 RBBP8 NM_002894.2(RBBP8): c.-208G> C single nucleotide variant Uncertain significance rs886053656 GRCh38 Chromosome 18, 22933455: 22933455
26 RBBP8 NM_002894.2(RBBP8): c.-208G> C single nucleotide variant Uncertain significance rs886053656 GRCh37 Chromosome 18, 20513418: 20513418
27 RBBP8 NM_002894.2(RBBP8): c.-102G> A single nucleotide variant Uncertain significance rs886053658 GRCh37 Chromosome 18, 20513524: 20513524
28 RBBP8 NM_002894.2(RBBP8): c.-102G> A single nucleotide variant Uncertain significance rs886053658 GRCh38 Chromosome 18, 22933561: 22933561
29 RBBP8 NM_002894.2(RBBP8): c.-83A> G single nucleotide variant Uncertain significance rs886053659 GRCh37 Chromosome 18, 20516732: 20516732
30 RBBP8 NM_002894.2(RBBP8): c.-83A> G single nucleotide variant Uncertain significance rs886053659 GRCh38 Chromosome 18, 22936769: 22936769
31 RBBP8 NM_002894.2(RBBP8): c.110-15C> T single nucleotide variant Uncertain significance rs201687908 GRCh37 Chromosome 18, 20526392: 20526392
32 RBBP8 NM_002894.2(RBBP8): c.110-15C> T single nucleotide variant Uncertain significance rs201687908 GRCh38 Chromosome 18, 22946429: 22946429
33 RBBP8 NM_002894.2(RBBP8): c.348T> C (p.Leu116=) single nucleotide variant Uncertain significance rs746385731 GRCh37 Chromosome 18, 20548868: 20548868
34 RBBP8 NM_002894.2(RBBP8): c.348T> C (p.Leu116=) single nucleotide variant Uncertain significance rs746385731 GRCh38 Chromosome 18, 22968905: 22968905
35 RBBP8 NM_002894.2(RBBP8): c.891A> G (p.Glu297=) single nucleotide variant Uncertain significance rs140403315 GRCh38 Chromosome 18, 22991020: 22991020
36 RBBP8 NM_002894.2(RBBP8): c.891A> G (p.Glu297=) single nucleotide variant Uncertain significance rs140403315 GRCh37 Chromosome 18, 20570983: 20570983
37 RBBP8 NM_002894.2(RBBP8): c.1632G> A (p.Thr544=) single nucleotide variant Uncertain significance rs371151302 GRCh37 Chromosome 18, 20573422: 20573422
38 RBBP8 NM_002894.2(RBBP8): c.1632G> A (p.Thr544=) single nucleotide variant Uncertain significance rs371151302 GRCh38 Chromosome 18, 22993459: 22993459
39 RBBP8 NM_002894.2(RBBP8): c.1813-9C> A single nucleotide variant Uncertain significance rs529873737 GRCh37 Chromosome 18, 20573675: 20573675
40 RBBP8 NM_002894.2(RBBP8): c.1813-9C> A single nucleotide variant Uncertain significance rs529873737 GRCh38 Chromosome 18, 22993712: 22993712
41 RBBP8 NM_002894.2(RBBP8): c.2142A> T (p.Ser714=) single nucleotide variant Uncertain significance rs886053661 GRCh38 Chromosome 18, 22997733: 22997733
42 RBBP8 NM_002894.2(RBBP8): c.2142A> T (p.Ser714=) single nucleotide variant Uncertain significance rs886053661 GRCh37 Chromosome 18, 20577696: 20577696
43 RBBP8 NM_002894.2(RBBP8): c.*97G> C single nucleotide variant Uncertain significance rs777642288 GRCh37 Chromosome 18, 20606300: 20606300
44 RBBP8 NM_002894.2(RBBP8): c.*97G> C single nucleotide variant Uncertain significance rs777642288 GRCh38 Chromosome 18, 23026337: 23026337
45 RBBP8 NM_002894.2(RBBP8): c.*223C> T single nucleotide variant Uncertain significance rs535463636 GRCh38 Chromosome 18, 23026463: 23026463
46 RBBP8 NM_002894.2(RBBP8): c.*223C> T single nucleotide variant Uncertain significance rs535463636 GRCh37 Chromosome 18, 20606426: 20606426
47 RBBP8 NM_002894.2(RBBP8): c.-288G> A single nucleotide variant Likely benign rs7244973 GRCh38 Chromosome 18, 22933375: 22933375
48 RBBP8 NM_002894.2(RBBP8): c.-288G> A single nucleotide variant Likely benign rs7244973 GRCh37 Chromosome 18, 20513338: 20513338
49 RBBP8 NM_002894.2(RBBP8): c.-269C> T single nucleotide variant Uncertain significance rs886053653 GRCh38 Chromosome 18, 22933394: 22933394
50 RBBP8 NM_002894.2(RBBP8): c.-269C> T single nucleotide variant Uncertain significance rs886053653 GRCh37 Chromosome 18, 20513357: 20513357

Expression for Jawad Syndrome

Search GEO for disease gene expression data for Jawad Syndrome.

Pathways for Jawad Syndrome

Pathways related to Jawad Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.78 CEP76 RBBP8

GO Terms for Jawad Syndrome

Sources for Jawad 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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