MCID: JLL001
MIFTS: 41

Jalili Syndrome

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

Aliases & Classifications for Jalili Syndrome

MalaCards integrated aliases for Jalili Syndrome:

Name: Jalili Syndrome 57 76 53 59 75 37 13 73
Cone-Rod Dystrophy Amelogenesis Imperfecta 53 29 6
Cone-Rod Dystrophy and Amelogenesis Imperfecta 57 75
Cone Rod Dystrophy-Amelogenesis Imperfecta Syndrome 59
Cone-Rod Dystrophy with Amelogenesis Imperfecta 53
Cone Rod Dystrophy Amelogenesis Imperfecta 73
Syndrome, Jalili 40
Jalis 75

Characteristics:

Orphanet epidemiological data:

59
jalili syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
jalili syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 217080
Orphanet 59 ORPHA1873
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 74 C2931074 C3495589
KEGG 37 H01015

Summaries for Jalili Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1873Disease definitionJalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).EpidemiologyIt has been described in only one family with 29 affected individuals.Clinical descriptionAI is a generic term for an inherited group of dental diseases in which the common clinical feature is an abnormality of tooth enamel. The enamel may be thin but normal, and/or hypomineralized. CORD is a rare retinal disorder that leads to an initial loss of central vision, color vision and photophobia before the age of 10 years with subsequent night blindness and visual field restriction.EtiologyMutations in the CNNM4 gene (2q11.2), which is implicated in metal ion transport, have been identified in several families.Genetic counselingJalili syndrome is transmitted in an autosomal recessive manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Jalili Syndrome, also known as cone-rod dystrophy amelogenesis imperfecta, is related to cone-rod dystrophy 2 and achromatopsia, and has symptoms including photophobia An important gene associated with Jalili Syndrome is CNNM4 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 4), and among its related pathways/superpathways are cAMP signaling pathway and Phototransduction. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and visual impairment

UniProtKB/Swiss-Prot : 75 Jalili syndrome: A syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta.

Wikipedia : 76 Jalili syndrome is a genetic disorder characterized by the combination of cone-rod dystrophy of the... more...

Description from OMIM: 217080

Related Diseases for Jalili Syndrome

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



Diseases related to Jalili Syndrome

Symptoms & Phenotypes for Jalili Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
photophobia
night blindness
bull's eye macular lesion
cone-rod dystrophy
more
Head And Neck Teeth:
amelogenesis imperfecta
dental caries
dark brown discoloration


Clinical features from OMIM:

217080

Human phenotypes related to Jalili Syndrome:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
3 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
4 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
5 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
6 abnormality of color vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000551
7 amelogenesis imperfecta 59 32 hallmark (90%) Very frequent (99-80%) HP:0000705
8 abnormality of dental color 59 32 hallmark (90%) Very frequent (99-80%) HP:0011073
9 carious teeth 32 HP:0000670
10 nyctalopia 32 HP:0000662
11 abnormality of dental enamel 59 Very frequent (99-80%)
12 optic disc pallor 32 HP:0000543
13 cone/cone-rod dystrophy 32 HP:0000548
14 monochromacy 32 HP:0007803

UMLS symptoms related to Jalili Syndrome:


photophobia

MGI Mouse Phenotypes related to Jalili Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 CNGA3 CNGB3 CNNM4 GNAT2 PDE6C

Drugs & Therapeutics for Jalili Syndrome

Search Clinical Trials , NIH Clinical Center for Jalili Syndrome

Genetic Tests for Jalili Syndrome

Genetic tests related to Jalili Syndrome:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy Amelogenesis Imperfecta 29 CNNM4

Anatomical Context for Jalili Syndrome

MalaCards organs/tissues related to Jalili Syndrome:

41
Retina, Eye

Publications for Jalili Syndrome

Articles related to Jalili Syndrome:

(show all 12)
# Title Authors Year
1
Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene. ( 29421602 )
2018
2
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients with Cone-Rod Dystrophy and Amelogenesis Imperfecta. ( 29421294 )
2018
3
Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome. ( 28246031 )
2017
4
Co-occurrence of Jalili syndrome and muscular overgrowth. ( 28586144 )
2017
5
A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome. ( 27419834 )
2016
6
A new familial case of Jalili syndrome caused by a novel mutation in CNNM4. ( 27070327 )
2016
7
Intra-familial phenotype variability in patients with Jalili syndrome. ( 25613845 )
2015
8
Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent. ( 26117809 )
2015
9
Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene. ( 24194943 )
2013
10
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. ( 23362848 )
2013
11
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. ( 20706282 )
2010
12
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal- recessive cone-rod dystrophy and amelogenesis imperfecta. ( 19200525 )
2009

Variations for Jalili Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Jalili Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 CNNM4 p.Ser196Pro VAR_058319
2 CNNM4 p.Ser200Tyr VAR_058320 rs79424354
3 CNNM4 p.Arg236Gln VAR_058321 rs75267011
4 CNNM4 p.Leu324Pro VAR_058322 rs74552543

ClinVar genetic disease variations for Jalili Syndrome:

6
(show top 50) (show all 114)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNNM4 CNNM4, 1-BP DUP, 1312C duplication Pathogenic
2 CNNM4 NM_020184.3(CNNM4): c.707G> A (p.Arg236Gln) single nucleotide variant Pathogenic rs75267011 GRCh37 Chromosome 2, 97427443: 97427443
3 CNNM4 NM_020184.3(CNNM4): c.707G> A (p.Arg236Gln) single nucleotide variant Pathogenic rs75267011 GRCh38 Chromosome 2, 96761706: 96761706
4 CNNM4 NM_020184.3(CNNM4): c.971T> C (p.Leu324Pro) single nucleotide variant Pathogenic rs74552543 GRCh37 Chromosome 2, 97427707: 97427707
5 CNNM4 NM_020184.3(CNNM4): c.971T> C (p.Leu324Pro) single nucleotide variant Pathogenic rs74552543 GRCh38 Chromosome 2, 96761970: 96761970
6 CNNM4 NM_020184.3(CNNM4): c.1690C> T (p.Gln564Ter) single nucleotide variant Pathogenic rs80100937 GRCh37 Chromosome 2, 97464802: 97464802
7 CNNM4 NM_020184.3(CNNM4): c.1690C> T (p.Gln564Ter) single nucleotide variant Pathogenic rs80100937 GRCh38 Chromosome 2, 96799065: 96799065
8 CNNM4 NM_020184.3(CNNM4): c.599C> A (p.Ser200Tyr) single nucleotide variant Pathogenic rs79424354 GRCh37 Chromosome 2, 97427335: 97427335
9 CNNM4 NM_020184.3(CNNM4): c.599C> A (p.Ser200Tyr) single nucleotide variant Pathogenic rs79424354 GRCh38 Chromosome 2, 96761598: 96761598
10 CNNM4 NM_020184.3(CNNM4): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs75559353 GRCh37 Chromosome 2, 97475075: 97475075
11 CNNM4 NM_020184.3(CNNM4): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs75559353 GRCh38 Chromosome 2, 96809338: 96809338
12 CNNM4 CNNM4, 83-BP DEL, NT62 deletion Pathogenic
13 CNNM4 NM_020184.3(CNNM4): c.-14A> C single nucleotide variant Uncertain significance rs545205153 GRCh37 Chromosome 2, 97426723: 97426723
14 CNNM4 NM_020184.3(CNNM4): c.-14A> C single nucleotide variant Uncertain significance rs545205153 GRCh38 Chromosome 2, 96760986: 96760986
15 CNNM4 NM_020184.3(CNNM4): c.2130+5G> A single nucleotide variant Uncertain significance rs200517269 GRCh37 Chromosome 2, 97474484: 97474484
16 CNNM4 NM_020184.3(CNNM4): c.2130+5G> A single nucleotide variant Uncertain significance rs200517269 GRCh38 Chromosome 2, 96808747: 96808747
17 CNNM4 NM_020184.3(CNNM4): c.1682-1G> C single nucleotide variant Pathogenic rs879255500 GRCh37 Chromosome 2, 97464793: 97464793
18 CNNM4 NM_020184.3(CNNM4): c.1682-1G> C single nucleotide variant Pathogenic rs879255500 GRCh38 Chromosome 2, 96799056: 96799056
19 CNNM4 NM_020184.3(CNNM4): c.1947C> T (p.Ser649=) single nucleotide variant Uncertain significance rs41286594 GRCh37 Chromosome 2, 97465384: 97465384
20 CNNM4 NM_020184.3(CNNM4): c.1947C> T (p.Ser649=) single nucleotide variant Uncertain significance rs41286594 GRCh38 Chromosome 2, 96799647: 96799647
21 CNNM4 NM_020184.3(CNNM4): c.91T> C (p.Trp31Arg) single nucleotide variant Uncertain significance rs760633483 GRCh37 Chromosome 2, 97426827: 97426827
22 CNNM4 NM_020184.3(CNNM4): c.91T> C (p.Trp31Arg) single nucleotide variant Uncertain significance rs760633483 GRCh38 Chromosome 2, 96761090: 96761090
23 CNNM4 NM_020184.3(CNNM4): c.61C> G (p.Leu21Val) single nucleotide variant Uncertain significance rs886056471 GRCh38 Chromosome 2, 96761060: 96761060
24 CNNM4 NM_020184.3(CNNM4): c.61C> G (p.Leu21Val) single nucleotide variant Uncertain significance rs886056471 GRCh37 Chromosome 2, 97426797: 97426797
25 CNNM4 NM_020184.3(CNNM4): c.788A> G (p.Asn263Ser) single nucleotide variant Uncertain significance rs150269409 GRCh37 Chromosome 2, 97427524: 97427524
26 CNNM4 NM_020184.3(CNNM4): c.788A> G (p.Asn263Ser) single nucleotide variant Uncertain significance rs150269409 GRCh38 Chromosome 2, 96761787: 96761787
27 CNNM4 NM_020184.3(CNNM4): c.1942C> T (p.Pro648Ser) single nucleotide variant Uncertain significance rs144495984 GRCh37 Chromosome 2, 97465379: 97465379
28 CNNM4 NM_020184.3(CNNM4): c.1942C> T (p.Pro648Ser) single nucleotide variant Uncertain significance rs144495984 GRCh38 Chromosome 2, 96799642: 96799642
29 CNNM4 NM_020184.3(CNNM4): c.*91C> T single nucleotide variant Benign rs7581456 GRCh37 Chromosome 2, 97475345: 97475345
30 CNNM4 NM_020184.3(CNNM4): c.*91C> T single nucleotide variant Benign rs7581456 GRCh38 Chromosome 2, 96809608: 96809608
31 CNNM4 NM_020184.3(CNNM4): c.*95T> C single nucleotide variant Uncertain significance rs138947618 GRCh37 Chromosome 2, 97475349: 97475349
32 CNNM4 NM_020184.3(CNNM4): c.*95T> C single nucleotide variant Uncertain significance rs138947618 GRCh38 Chromosome 2, 96809612: 96809612
33 CNNM4 NM_020184.3(CNNM4): c.*477_*479delTCC deletion Likely benign rs886056477 GRCh37 Chromosome 2, 97475731: 97475733
34 CNNM4 NM_020184.3(CNNM4): c.*477_*479delTCC deletion Likely benign rs886056477 GRCh38 Chromosome 2, 96809994: 96809996
35 CNNM4 NM_020184.3(CNNM4): c.*924G> A single nucleotide variant Uncertain significance rs886056479 GRCh37 Chromosome 2, 97476178: 97476178
36 CNNM4 NM_020184.3(CNNM4): c.*924G> A single nucleotide variant Uncertain significance rs886056479 GRCh38 Chromosome 2, 96810441: 96810441
37 CNNM4 NM_020184.3(CNNM4): c.*1056C> T single nucleotide variant Uncertain significance rs183039738 GRCh38 Chromosome 2, 96810573: 96810573
38 CNNM4 NM_020184.3(CNNM4): c.*1056C> T single nucleotide variant Uncertain significance rs183039738 GRCh37 Chromosome 2, 97476310: 97476310
39 CNNM4 NM_020184.3(CNNM4): c.*1158C> T single nucleotide variant Uncertain significance rs760774484 GRCh38 Chromosome 2, 96810675: 96810675
40 CNNM4 NM_020184.3(CNNM4): c.*1158C> T single nucleotide variant Uncertain significance rs760774484 GRCh37 Chromosome 2, 97476412: 97476412
41 CNNM4 NM_020184.3(CNNM4): c.*1517G> A single nucleotide variant Uncertain significance rs538345373 GRCh38 Chromosome 2, 96811034: 96811034
42 CNNM4 NM_020184.3(CNNM4): c.*1517G> A single nucleotide variant Uncertain significance rs538345373 GRCh37 Chromosome 2, 97476771: 97476771
43 CNNM4 NM_020184.3(CNNM4): c.*1565C> T single nucleotide variant Uncertain significance rs886056481 GRCh38 Chromosome 2, 96811082: 96811082
44 CNNM4 NM_020184.3(CNNM4): c.*1565C> T single nucleotide variant Uncertain significance rs886056481 GRCh37 Chromosome 2, 97476819: 97476819
45 CNNM4 NM_020184.3(CNNM4): c.*1937G> A single nucleotide variant Uncertain significance rs886056483 GRCh38 Chromosome 2, 96811454: 96811454
46 CNNM4 NM_020184.3(CNNM4): c.*1937G> A single nucleotide variant Uncertain significance rs886056483 GRCh37 Chromosome 2, 97477191: 97477191
47 CNNM4 NM_020184.3(CNNM4): c.*1974C> T single nucleotide variant Uncertain significance rs538676167 GRCh38 Chromosome 2, 96811491: 96811491
48 CNNM4 NM_020184.3(CNNM4): c.*1974C> T single nucleotide variant Uncertain significance rs538676167 GRCh37 Chromosome 2, 97477228: 97477228
49 CNNM4 NM_020184.3(CNNM4): c.*2120C> T single nucleotide variant Benign rs12846 GRCh38 Chromosome 2, 96811637: 96811637
50 CNNM4 NM_020184.3(CNNM4): c.*2120C> T single nucleotide variant Benign rs12846 GRCh37 Chromosome 2, 97477374: 97477374

Expression for Jalili Syndrome

Search GEO for disease gene expression data for Jalili Syndrome.

Pathways for Jalili Syndrome

GO Terms for Jalili Syndrome

Cellular components related to Jalili Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.16 CNGB3 GNAT2
2 photoreceptor outer segment membrane GO:0042622 8.96 CNGA3 GNAT2
3 transmembrane transporter complex GO:1902495 8.62 CNGA3 CNGB3

Biological processes related to Jalili Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.71 CNGA3 CNGB3 GNAT2 PDE6C
2 ion transport GO:0006811 9.54 CNGA3 CNGB3 CNNM4
3 potassium ion transmembrane transport GO:0071805 9.46 CNGA3 CNGB3
4 regulation of membrane potential GO:0042391 9.43 CNGA3 CNGB3
5 response to stimulus GO:0050896 9.35 CNGA3 CNGB3 CNNM4 GNAT2 PDE6C
6 cation transport GO:0006812 9.32 CNGA3 CNGB3
7 cation transmembrane transport GO:0098655 9.26 CNGA3 CNGB3
8 retinal cone cell development GO:0046549 9.16 GNAT2 PDE6C
9 visual perception GO:0007601 9.02 CNGA3 CNGB3 CNNM4 GNAT2 PDE6C

Molecular functions related to Jalili Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel activity GO:0005249 9.26 CNGA3 CNGB3
2 intracellular cAMP activated cation channel activity GO:0005222 9.16 CNGA3 CNGB3
3 intracellular cGMP activated cation channel activity GO:0005223 8.96 CNGA3 CNGB3
4 cGMP binding GO:0030553 8.8 CNGA3 CNGB3 PDE6C

Sources for Jalili 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
Content
Loading form....