JWDS
MCID: JWD001
MIFTS: 34

Jawad Syndrome (JWDS)

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

Aliases & Classifications for Jawad Syndrome

MalaCards integrated aliases for Jawad Syndrome:

Name: Jawad Syndrome 57 58 72 13 39
Microcephaly with Mental Retardation and Digital Anomalies 57 72 29 6
Kelly Syndrome 57 72
Jwds 57 72
Microcephaly-Digital Anomalies Syndrome 70
Plummer-Vinson Syndrome 70
Kelly 17

Characteristics:

Orphanet epidemiological data:

58
jawad syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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


HPO:

31
jawad syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 251255
UMLS via Orphanet 71 C0796063
Orphanet 58 ORPHA313795
UMLS 70 C0032249 C0796063

Summaries for Jawad Syndrome

UniProtKB/Swiss-Prot : 72 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 microcephaly 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. The drugs Dexamethasone and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include endothelial, and related phenotypes are intellectual disability and global developmental delay

More information from OMIM: 251255

Related Diseases for Jawad Syndrome

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 microcephaly 29.2 RBBP8 CEP76
2 plummer vinson syndrome 11.4
3 radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema 11.3
4 hemochromatosis, neonatal 10.8
5 homocystinuria due to cystathionine beta-synthase deficiency 10.8
6 celiac disease 5 10.8
7 celiac disease 4 10.8
8 celiac disease 2 10.8
9 celiac disease 3 10.8
10 celiac disease 6 10.8
11 celiac disease 7 10.8
12 celiac disease 8 10.8
13 celiac disease 9 10.8
14 celiac disease 10 10.8
15 celiac disease 11 10.8
16 celiac disease 12 10.8
17 celiac disease 13 10.8
18 bombay phenotype 10.8
19 iron metabolism disease 10.3
20 dysphagia 10.2
21 bladder exstrophy 10.2
22 deficiency anemia 10.1
23 iron deficiency anemia 10.1
24 neuroblastoma 10.1
25 celiac disease 1 10.0
26 candidiasis 10.0
27 pelvic organ prolapse 10.0
28 nail disorder, nonsyndromic congenital, 4 10.0
29 prostate cancer 9.9
30 barrett esophagus 9.9
31 pre-eclampsia 9.9
32 hypospadias 9.9
33 dementia 9.9
34 discrete subaortic stenosis 9.9
35 subvalvular aortic stenosis 9.9
36 diabetes mellitus 9.9
37 patterson pseudoleprechaunism syndrome 9.9
38 goiter 9.9
39 nodular goiter 9.9
40 alcohol dependence 9.8
41 amyotrophic lateral sclerosis 1 9.8
42 atrial standstill 1 9.8
43 albinism, oculocutaneous, type vi 9.8
44 breast cancer 9.8
45 esophageal cancer 9.8
46 renal cell carcinoma, nonpapillary 9.8
47 hypertension, essential 9.8
48 systemic lupus erythematosus 9.8
49 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.8
50 pancreatic cancer 9.8

Graphical network of the top 20 diseases related to Jawad Syndrome:



Diseases related to Jawad Syndrome

Symptoms & Phenotypes for Jawad Syndrome

Human phenotypes related to Jawad Syndrome:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 retrognathia 31 HP:0000278
4 hallux valgus 31 HP:0001822
5 prominent nose 31 HP:0000448
6 aggressive behavior 31 HP:0000718
7 short middle phalanx of the 5th finger 31 HP:0004220
8 thoracic scoliosis 31 HP:0002943
9 congenital microcephaly 31 HP:0011451
10 4-5 toe syndactyly 31 HP:0004692
11 absent fourth finger distal interphalangeal crease 31 HP:0005780
12 single interphalangeal crease of fifth finger 31 HP:0006216

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
retrognathia

Head And Neck Nose:
prominent nose

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

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

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Head And Neck Head:
congenital microcephaly

Skeletal Limbs:
limited extension of the elbows
limited supination

Clinical features from OMIM®:

251255 (Updated 05-Apr-2021)

Drugs & Therapeutics for Jawad Syndrome

Drugs for Jawad Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 5743
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2, Phase 3 1177-87-3
3
Bevacizumab Approved, Investigational Phase 2, Phase 3 216974-75-3
4 Mitomycins Phase 2, Phase 3
5 Pharmaceutical Solutions Phase 2, Phase 3
6 Angiogenesis Inhibitors Phase 2, Phase 3
7 Antibiotics, Antitubercular Phase 2, Phase 3
8 Antineoplastic Agents, Immunological Phase 2, Phase 3
9 Gentamicins Phase 2, Phase 3
10 Mitogens Phase 2, Phase 3
11 Alkylating Agents Phase 2, Phase 3
12 Antimetabolites Phase 2, Phase 3
13 Endothelial Growth Factors Phase 2, Phase 3
14 Anti-Bacterial Agents Phase 2, Phase 3
15
Lidocaine Approved, Vet_approved 137-58-6 3676
16
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
17
Vitamin D3 Approved, Nutraceutical 67-97-0 5280795 6221
18 Anesthetics
19 Trace Elements
20 Nutrients
21 Vitamins
22 Calciferol
23 Micronutrients

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Bevacizumab Versus Mitomycin C as Trabeculectomy Adjuvant in Uncontrolled Glaucoma: A Randomized Pilot Trial. Completed NCT02901236 Phase 2, Phase 3 Mitomycin C;Bevacizumab
2 Placental Cord Drainage Versus no Placental Drainage in the Management of Third Stage of Labour: Randomized Controlled Trial Unknown status NCT03137810
3 Comparative Health Improvements and Rate of Relapse in Weight-Centered vs. Wellness-Centered Interventions for Obese Women Completed NCT00769717
4 A Randomized Study Comparing the Safety and Efficacy of the InnFocus MicroShuntTM Glaucoma Drainage System to Standard Trabeculectomy In Subjects With Primary Open Angle Glaucoma Completed NCT01881425
5 Transobturator Sling Compared With Single-incision Mini-sling for the Treatment of Stress Urinary Incontinence: A Randomized Controlled Trial Completed NCT02540525
6 Evaluating the Health Benefits of Workplace Policies and Practices - Phase II Completed NCT02050204
7 Increasing Vitamin D Serum Levels Reduces Pulmonary Exacerbations in Patients With Cystic Fibrosis Completed NCT02043717
8 Randomized Experiment of Sleep Technology Study Completed NCT04246424
9 Modified Trabeculectomy With an Extended Subscleral Tunnel Versus Conventional Trabeculectomy for Management of Primary Open Angle Glaucoma (POAG) Completed NCT03480711
10 The Hunter James Kelly Research Institute's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry Recruiting NCT02993796
11 En_Línea. An Online Treatment to Change Lifestyle in Overweight and Obesity: Study Protocol for a Randomized Controlled Trial Recruiting NCT04127201
12 Loop vs. Traditional Incision and Drainage: A Randomized Controlled Pilot Trial Withdrawn NCT03911518

Search 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

MalaCards organs/tissues related to Jawad Syndrome:

40
Endothelial

Publications for Jawad Syndrome

Articles related to Jawad Syndrome:

# Title Authors PMID Year
1
CtIP Mutations Cause Seckel and Jawad Syndromes. 61 57 6
21998596 2011
2
A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2. 61 6 57
18071751 2008
3
Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation. 57
8434622 1993
4
A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. 61
24440292 2014

Variations for Jawad Syndrome

ClinVar genetic disease variations for Jawad Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RBBP8 NM_002894.2(RBBP8):c.1808_1809delTA (p.Ile603Lysfs) Deletion Pathogenic 30409 rs587776884 GRCh37: 18:20573597-20573598
GRCh38: 18:22993634-22993635
2 RBBP8 NM_002894.3(RBBP8):c.317_318del (p.Glu105_Phe106insTer) Deletion Pathogenic 1033553 GRCh37: 18:20548836-20548837
GRCh38: 18:22968873-22968874
3 RBBP8 NM_002894.3(RBBP8):c.1457_1458del (p.Val486fs) Microsatellite Likely pathogenic 930296 GRCh37: 18:20573243-20573244
GRCh38: 18:22993280-22993281
4 RBBP8 NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln) SNV Uncertain significance 326234 rs140196819 GRCh37: 18:20602153-20602153
GRCh38: 18:23022190-23022190
5 RBBP8 NM_002894.3(RBBP8):c.927A>G (p.Ser309=) SNV Uncertain significance 326223 rs370136343 GRCh37: 18:20572717-20572717
GRCh38: 18:22992754-22992754
6 RBBP8 NM_002894.3(RBBP8):c.2435C>T (p.Thr812Met) SNV Uncertain significance 1030603 GRCh37: 18:20596868-20596868
GRCh38: 18:23016905-23016905
7 RBBP8 NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys) SNV Uncertain significance 1033552 GRCh37: 18:20581551-20581551
GRCh38: 18:23001588-23001588

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 RBBP8 CEP76

GO Terms for Jawad Syndrome

Sources for Jawad 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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