CJS
MCID: CLL036
MIFTS: 49

Culler-Jones Syndrome (CJS)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Culler-Jones Syndrome

MalaCards integrated aliases for Culler-Jones Syndrome:

Name: Culler-Jones Syndrome 57 12 20 58 72 29 6 15 39 70
Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome 20 58
Cjs 57 72
Pallister-Hall Syndrome 2, Formerly; Phs2, Formerly 57
Pallister-Hall Syndrome 2, Formerly 57
Pallister-Hall Syndrome 2 72
Phs2, Formerly 57
Phs2 72

Characteristics:

Orphanet epidemiological data:

58
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable expressivity
incomplete penetrance
variable phenotype

Inheritance:
autosomal dominant


HPO:

31
culler-jones syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080328
OMIM® 57 615849
MeSH 44 D054975
ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA420584
UMLS 70 C4014479

Summaries for Culler-Jones Syndrome

GARD : 20 Culler-Jones syndrome is a rare disease characterized by pituitary anomalies resulting in hypopituitarism, presence of extra fingers ( polydactyly ) and unusual facial features. Symptoms related to the hypopituitarism may include abdominal pain, decreased appetite, short stature, delayed bone age, diabetes insipidus, slowed growth and sexual development, undescended testis (cryptorchidism) and small penis ( hypogonadotropic hypogonadism ). Facial features include eyes that appear very close together (hypotelorism), cleft palate and cleft lip and a flat nose. The extra digits are usually located on the outside of the little fingers ( post-axial polydactyly ). Brain imaging may show a small anterior pituitary gland. Culler-Jones syndrome is caused by changes ( mutations ) in the GLI2 gene. Inheritance is autosomal dominant. Treatment may include replacement of the hormones that are lacking due to the hypopituitarism, and surgery to correct the extra digits and the facial defects. Mutations in the GLI2 gene can also cause a different condition known as holoprosencephaly-9 (HPE9) which is much more severe. That condition is characterized by a single-lobed brain structure and severe skull and facial defects.

MalaCards based summary : Culler-Jones Syndrome, also known as postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, is related to hypopituitarism and holoprosencephaly. An important gene associated with Culler-Jones Syndrome is GLI2 (GLI Family Zinc Finger 2), and among its related pathways/superpathways are Signaling by Hedgehog and Translation Non-genomic (rapid) action of Androgen Receptor. Affiliated tissues include pituitary, testis and thyroid, and related phenotypes are global developmental delay and cleft palate

Disease Ontology : 12 A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has material basis in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity.

OMIM® : 57 Culler-Jones syndrome (CJS) is an autosomal dominant disorder characterized by hypopituitarism, mainly growth hormone deficiency, and/or postaxial polydactyly. The phenotype is highly variable, and some patients may have midline facial defects and developmental delay. The disorder shows incomplete penetrance and variable expressivity (summary by Franca et al., 2010). (615849) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Culler-Jones syndrome: An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia.

Related Diseases for Culler-Jones Syndrome

Diseases related to Culler-Jones Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 hypopituitarism 29.9 SIX3 SHH GLI2
2 holoprosencephaly 28.3 ZIC2 TGIF1 SIX3 SHH IHH GLI3
3 holoprosencephaly, recurrent infections, and monocytosis 10.2 SIX3 GLI2
4 hemimelia 10.2 GLI3 GLI2
5 central nervous system lipoma 10.2 ZIC2 SIX3
6 white-sutton syndrome 10.2 GLI3 GLI2
7 fibromatosis, gingival, with progressive deafness 10.2
8 orofaciodigital syndrome viii 10.1 ZIC2 SIX3
9 holoprosencephaly 8 10.1 ZIC2 CDON
10 chromosome 18p deletion syndrome 10.0 ZIC2 TGIF1 SIX3
11 melanotic medulloblastoma 10.0 SHH GLI2
12 nodular medulloblastoma 9.9 SHH GLI2
13 adult medulloblastoma 9.9 SHH GLI2
14 syndactyly, type iv 9.9 SHH GLI3
15 tibia, hypoplasia or aplasia of, with polydactyly 9.9 SHH GLI3
16 laurin-sandrow syndrome 9.8 SHH GLI3
17 schizencephaly 9.8 SIX3 SHH
18 pancreas, annular 9.8 SHH IHH
19 anus, imperforate 9.8 SHH GLI3 GLI2
20 acrocapitofemoral dysplasia 9.8 SHH IHH
21 greig cephalopolysyndactyly syndrome 9.8 SHH GLI3 GLI2
22 pituitary hypoplasia 9.8 TGIF1 SHH
23 septooptic dysplasia 9.8 SIX3 SHH GLI2
24 esophageal atresia 9.8 SHH GLI3 GLI2
25 patau syndrome 9.8 ZIC2 SIX3 SHH
26 townes-brocks syndrome 9.7 SHH GLI3
27 fetal alcohol spectrum disorder 9.7 SHH CDON
28 polydactyly 9.7 SHH GLI3 GLI2
29 acrocallosal syndrome 9.7 SHH IHH GLI3
30 bone development disease 9.6 SHH IHH GLI3
31 synostosis 9.6 SHH IHH GLI3
32 corpus callosum lipoma 9.6 ZIC2 SIX3 SHH GLI2
33 cerebral hemisphere lipoma 9.6 ZIC2 SIX3 SHH GLI2
34 holoprosencephaly 2 9.6 ZIC2 SIX3 SHH GLI2
35 holoprosencephaly 3 9.6 ZIC2 SIX3 SHH GLI2
36 brachydactyly, type a1 9.6 SHH IHH CDON
37 tumoral calcinosis, hyperphosphatemic, familial, 1 9.6 SHH IHH
38 feingold syndrome 1 9.6 SHH GLI3
39 infratentorial cancer 9.5 SHH IHH GLI3 GLI2
40 ellis-van creveld syndrome 9.5 SHH IHH GLI3 GLI2
41 coloboma of macula 9.5 ZIC2 SIX3 SHH CDON
42 chromosome 2q35 duplication syndrome 9.5 SHH IHH GLI3 GLI2
43 hirschsprung disease 1 9.5 SHH IHH GLI3
44 kallmann syndrome 9.5 SIX3 SHH IHH GLI3
45 cleft palate, isolated 9.5 SHH IHH GLI3 GLI2
46 basal cell carcinoma 9.5 SHH IHH GLI3 GLI2
47 physical disorder 9.4 ZIC2 SIX3 SHH GLI3 GLI2
48 skin carcinoma 9.4 SHH IHH GLI3 GLI2
49 holoprosencephaly 9 9.4 ZIC2 SIX3 SHH GLI2 CDON
50 holoprosencephaly 1 9.4 ZIC2 SIX3 SHH GLI2 CDON

Graphical network of the top 20 diseases related to Culler-Jones Syndrome:



Diseases related to Culler-Jones Syndrome

Symptoms & Phenotypes for Culler-Jones Syndrome

Human phenotypes related to Culler-Jones Syndrome:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 cleft palate 31 occasional (7.5%) HP:0000175
3 diabetes insipidus 31 occasional (7.5%) HP:0000873
4 cleft upper lip 31 occasional (7.5%) HP:0000204
5 hypotelorism 31 occasional (7.5%) HP:0000601
6 midface retrusion 31 occasional (7.5%) HP:0011800
7 postaxial polydactyly 31 occasional (7.5%) HP:0100259
8 short stature 31 HP:0004322
9 cryptorchidism 31 HP:0000028
10 micropenis 31 HP:0000054
11 hypogonadism 31 HP:0000135
12 anterior pituitary hypoplasia 31 HP:0010627
13 hypopituitarism 31 HP:0040075
14 ectopic posterior pituitary 31 HP:0011755

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Neurologic Central Nervous System:
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk
delayed psychomotor development (in some patients)

Head And Neck Mouth:
cleft lip (in some patients)
cleft palate (in some patients)

Skeletal Hands:
postaxial polydactyly (in some patients)

Head And Neck Face:
midface hypoplasia (in some patients)

Genitourinary External Genitalia Male:
cryptorchidism
micropenis

Endocrine Features:
hypopituitarism
hypogonadotropic hypogonadism
combined pituitary hormone deficiency
low or absent growth hormone
diabetes insipidus (in some patients)
more
Head And Neck Eyes:
hypotelorism (in some patients)

Skeletal Feet:
postaxial polydactyly (in some patients)

Clinical features from OMIM®:

615849 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Culler-Jones Syndrome:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.18 CCM2 CDON GLI2 GLI3 IHH SHH
2 growth/size/body region MP:0005378 10.18 CCM2 CDON GLI2 GLI3 IHH PHF2
3 embryo MP:0005380 10.15 CCM2 CDON GLI2 GLI3 IHH SHH
4 cellular MP:0005384 10.14 CCM2 CDON GLI2 GLI3 IHH SHH
5 mortality/aging MP:0010768 10.1 CCM2 CDON GLI2 GLI3 IHH PHF2
6 cardiovascular system MP:0005385 10.09 CCM2 CDON GLI3 IHH SHH TGIF1
7 nervous system MP:0003631 10.07 CCM2 CDON GLI2 GLI3 IHH PHF2
8 digestive/alimentary MP:0005381 10.05 CDON GLI2 GLI3 IHH SHH SIX3
9 limbs/digits/tail MP:0005371 9.98 CDON GLI2 GLI3 IHH SHH TGIF1
10 integument MP:0010771 9.93 CCM2 GLI2 GLI3 PHF2 SHH ZIC2
11 respiratory system MP:0005388 9.86 CDON GLI2 GLI3 IHH SHH SIX3
12 normal MP:0002873 9.8 CCM2 GLI2 GLI3 SHH TGIF1 ZIC2
13 skeleton MP:0005390 9.76 CDON GLI2 GLI3 IHH SHH SIX3
14 vision/eye MP:0005391 9.28 CCM2 CDON GLI2 GLI3 IHH SHH
15 taste/olfaction MP:0005394 9.26 GLI3 SHH SIX3 TGIF1

Drugs & Therapeutics for Culler-Jones Syndrome

Search Clinical Trials , NIH Clinical Center for Culler-Jones Syndrome

Genetic Tests for Culler-Jones Syndrome

Genetic tests related to Culler-Jones Syndrome:

# Genetic test Affiliating Genes
1 Culler-Jones Syndrome 29 GLI2

Anatomical Context for Culler-Jones Syndrome

MalaCards organs/tissues related to Culler-Jones Syndrome:

40
Pituitary, Testis, Thyroid

Publications for Culler-Jones Syndrome

Articles related to Culler-Jones Syndrome:

(show all 12)
# Title Authors PMID Year
1
Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. 6 57
20685856 2010
2
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. 6 57
15994174 2005
3
Hypopituitarism in association with postaxial polydactyly. 57 6
6726521 1984
4
Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications. 6
29876959 2018
5
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. 57
24744436 2014
6
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. 57
22967285 2013
7
Clinical findings in patients with GLI2 mutations--phenotypic variability. 57
21204792 2012
8
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. 6
14581620 2003
9
Interaction of staphylococcal delta-toxin and synthetic analogues with erythrocytes and phospholipid vesicles. Biological and physical properties of the amphipathic peptides. 20
2474443 1989
10
A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome. 61
30583238 2019
11
A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling. 61
30629636 2019
12
Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model. 61
29298444 2017

Variations for Culler-Jones Syndrome

ClinVar genetic disease variations for Culler-Jones Syndrome:

6 (show top 50) (show all 93)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLI2 GLI2, 1256TER SNV Pathogenic 139428 GRCh37:
GRCh38:
2 GLI2 NM_001374353.1(GLI2):c.2311_2317del (p.Leu771fs) Deletion Pathogenic 139429 rs587777455 GRCh37: 2:121745849-121745855
GRCh38: 2:120988273-120988279
3 GLI2 NM_001374353.1(GLI2):c.2030_2033del (p.Leu677fs) Deletion Pathogenic 139430 rs587777456 GRCh37: 2:121743977-121743980
GRCh38: 2:120986401-120986404
4 GLI2 NM_001374353.1(GLI2):c.1138G>T (p.Glu380Ter) SNV Pathogenic 139431 rs374155310 GRCh37: 2:121729595-121729595
GRCh38: 2:120972019-120972019
5 GLI2 NM_001374353.1(GLI2):c.2263del (p.Ser755fs) Deletion Pathogenic 522404 rs1553478423 GRCh37: 2:121745804-121745804
GRCh38: 2:120988228-120988228
6 GLI2 NM_001374353.1(GLI2):c.1555G>T (p.Glu519Ter) SNV Pathogenic 982907 GRCh37: 2:121740379-121740379
GRCh38: 2:120982803-120982803
7 GLI2 NM_001374353.1(GLI2):c.192dup (p.Asp65Ter) Duplication Pathogenic 573009 rs1388607733 GRCh37: 2:121684978-121684979
GRCh38: 2:120927402-120927403
8 GLI2 NM_001374353.1(GLI2):c.322del (p.Ala108fs) Deletion Pathogenic 520904 rs1553471273 GRCh37: 2:121708885-121708885
GRCh38: 2:120951309-120951309
9 GLI2 NM_001374353.1(GLI2):c.3567del (p.Gln1189fs) Deletion Pathogenic 863253 GRCh37: 2:121747108-121747108
GRCh38: 2:120989532-120989532
10 GLI2 NM_001374353.1(GLI2):c.789_826del (p.Arg264fs) Deletion Pathogenic 962182 GRCh37: 2:121726433-121726470
GRCh38: 2:120968857-120968894
11 GLI2 NM_001374353.1(GLI2):c.1905+1G>A SNV Likely pathogenic 576501 rs1558937172 GRCh37: 2:121742320-121742320
GRCh38: 2:120984744-120984744
12 GLI2 NM_001374353.1(GLI2):c.3625C>T (p.Arg1209Ter) SNV Likely pathogenic 976377 GRCh37: 2:121747166-121747166
GRCh38: 2:120989590-120989590
13 GLI2 NM_001374353.1(GLI2):c.1889del (p.Lys630fs) Deletion Likely pathogenic 816883 rs1573730110 GRCh37: 2:121742302-121742302
GRCh38: 2:120984726-120984726
14 GLI2 NM_001374353.1(GLI2):c.1375G>C (p.Ala459Pro) SNV Uncertain significance 443998 rs772017351 GRCh37: 2:121736067-121736067
GRCh38: 2:120978491-120978491
15 GLI2 NM_001374353.1(GLI2):c.466G>A (p.Glu156Lys) SNV Uncertain significance 976217 GRCh37: 2:121712829-121712829
GRCh38: 2:120955253-120955253
16 GLI2 NM_001374353.1(GLI2):c.2503G>A (p.Ala835Thr) SNV Uncertain significance 282738 rs751028726 GRCh37: 2:121746044-121746044
GRCh38: 2:120988468-120988468
17 GLI2 NM_001374353.1(GLI2):c.1490A>C (p.Tyr497Ser) SNV Uncertain significance 475118 rs1553477146 GRCh37: 2:121740314-121740314
GRCh38: 2:120982738-120982738
18 GLI2 NM_001374353.1(GLI2):c.2075T>C (p.Leu692Pro) SNV Uncertain significance 287648 rs781438228 GRCh37: 2:121744023-121744023
GRCh38: 2:120986447-120986447
19 GLI2 NM_001374353.1(GLI2):c.58C>G (p.Leu20Val) SNV Uncertain significance 982786 GRCh37: 2:121554954-121554954
GRCh38: 2:120797378-120797378
20 GLI2 NM_001374353.1(GLI2):c.451G>C (p.Ala151Pro) SNV Uncertain significance 541904 rs781771721 GRCh37: 2:121709015-121709015
GRCh38: 2:120951439-120951439
21 GLI2 NM_001374353.1(GLI2):c.713T>C (p.Leu238Pro) SNV Uncertain significance 565646 rs1558923316 GRCh37: 2:121726359-121726359
GRCh38: 2:120968783-120968783
22 GLI2 NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) SNV Uncertain significance 198528 rs200076785 GRCh37: 2:121729577-121729577
GRCh38: 2:120972001-120972001
23 GLI2 NM_001374353.1(GLI2):c.1178C>T (p.Thr393Met) SNV Uncertain significance 645913 rs571690193 GRCh37: 2:121729635-121729635
GRCh38: 2:120972059-120972059
24 GLI2 NM_001374353.1(GLI2):c.2107C>T (p.Arg703Cys) SNV Uncertain significance 650369 rs773976966 GRCh37: 2:121744055-121744055
GRCh38: 2:120986479-120986479
25 GLI2 NM_001374353.1(GLI2):c.3842G>A (p.Arg1281His) SNV Uncertain significance 662958 rs370407550 GRCh37: 2:121747383-121747383
GRCh38: 2:120989807-120989807
26 GLI2 NM_001374353.1(GLI2):c.677G>A (p.Arg226His) SNV Uncertain significance 665586 rs766283583 GRCh37: 2:121726323-121726323
GRCh38: 2:120968747-120968747
27 GLI2 NM_001374353.1(GLI2):c.2690G>A (p.Arg897Gln) SNV Uncertain significance 330981 rs886054813 GRCh37: 2:121746231-121746231
GRCh38: 2:120988655-120988655
28 GLI2 NM_001374353.1(GLI2):c.1672T>C (p.Tyr558His) SNV Uncertain significance 840599 GRCh37: 2:121742086-121742086
GRCh38: 2:120984510-120984510
29 GLI2 NM_001374353.1(GLI2):c.4468G>A (p.Ala1490Thr) SNV Uncertain significance 947362 GRCh37: 2:121748009-121748009
GRCh38: 2:120990433-120990433
30 GLI2 NM_001374353.1(GLI2):c.2006C>T (p.Thr669Met) SNV Uncertain significance 595143 rs758298657 GRCh37: 2:121743954-121743954
GRCh38: 2:120986378-120986378
31 GLI2 NM_001374353.1(GLI2):c.4325G>A (p.Gly1442Asp) SNV Uncertain significance 973891 GRCh37: 2:121747866-121747866
GRCh38: 2:120990290-120990290
32 GLI2 NM_001374353.1(GLI2):c.4075G>A (p.Glu1359Lys) SNV Uncertain significance 981515 GRCh37: 2:121747616-121747616
GRCh38: 2:120990040-120990040
33 GLI2 NM_001374353.1(GLI2):c.2860G>A (p.Asp954Asn) SNV Uncertain significance 860281 GRCh37: 2:121746401-121746401
GRCh38: 2:120988825-120988825
34 GLI2 NM_001374353.1(GLI2):c.1121G>A (p.Arg374His) SNV Uncertain significance 198529 rs370220133 GRCh37: 2:121729578-121729578
GRCh38: 2:120972002-120972002
35 GLI2 NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys) SNV Uncertain significance 475119 rs143914758 GRCh37: 2:121747688-121747688
GRCh38: 2:120990112-120990112
36 GLI2 NM_001374353.1(GLI2):c.1483_1494del (p.Lys495_Ser498del) Deletion Uncertain significance 1004973 GRCh37: 2:121740307-121740318
GRCh38: 2:120982731-120982742
37 GLI2 NM_001374353.1(GLI2):c.4413G>T (p.Leu1471Phe) SNV Uncertain significance 1016409 GRCh37: 2:121747954-121747954
GRCh38: 2:120990378-120990378
38 GLI2 NM_001374353.1(GLI2):c.770T>C (p.Val257Ala) SNV Uncertain significance 1022559 GRCh37: 2:121726416-121726416
GRCh38: 2:120968840-120968840
39 GLI2 NM_001374353.1(GLI2):c.1095C>T (p.Thr365=) SNV Likely benign 789269 rs374705620 GRCh37: 2:121729552-121729552
GRCh38: 2:120971976-120971976
40 GLI2 NM_001374353.1(GLI2):c.2007G>A (p.Thr669=) SNV Likely benign 778727 rs138592005 GRCh37: 2:121743955-121743955
GRCh38: 2:120986379-120986379
41 GLI2 NM_001374353.1(GLI2):c.845+10G>A SNV Likely benign 330968 rs199673018 GRCh37: 2:121726501-121726501
GRCh38: 2:120968925-120968925
42 GLI2 NM_001374353.1(GLI2):c.3575G>T (p.Ser1192Ile) SNV Likely benign 767113 rs138909736 GRCh37: 2:121747116-121747116
GRCh38: 2:120989540-120989540
43 GLI2 NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu) SNV Likely benign 235325 rs556743028 GRCh37: 2:121745978-121745978
GRCh38: 2:120988402-120988402
44 GLI2 NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) SNV Likely benign 282300 rs147044066 GRCh37: 2:121712970-121712970
GRCh38: 2:120955394-120955394
45 GLI2 NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=) SNV Likely benign 194224 rs141988240 GRCh37: 2:121746959-121746959
GRCh38: 2:120989383-120989383
46 GLI2 NM_001374353.1(GLI2):c.2251C>T (p.Leu751=) SNV Likely benign 194222 rs200831069 GRCh37: 2:121745792-121745792
GRCh38: 2:120988216-120988216
47 GLI2 NM_001374353.1(GLI2):c.132G>A (p.Ala44=) SNV Likely benign 193310 rs145778937 GRCh37: 2:121555028-121555028
GRCh38: 2:120797452-120797452
48 GLI2 NM_001374353.1(GLI2):c.2886G>A (p.Leu962=) SNV Likely benign 596158 rs777165274 GRCh37: 2:121746427-121746427
GRCh38: 2:120988851-120988851
49 GLI2 NM_001374353.1(GLI2):c.148+5T>C SNV Likely benign 330962 rs201273354 GRCh37: 2:121555049-121555049
GRCh38: 2:120797473-120797473
50 GLI2 NM_001374353.1(GLI2):c.252C>T (p.His84=) SNV Likely benign 330966 rs201412339 GRCh37: 2:121685040-121685040
GRCh38: 2:120927464-120927464

UniProtKB/Swiss-Prot genetic disease variations for Culler-Jones Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 GLI2 p.Pro608Leu VAR_071700 rs149800897
2 GLI2 p.Arg516Pro VAR_075214

Expression for Culler-Jones Syndrome

Search GEO for disease gene expression data for Culler-Jones Syndrome.

Pathways for Culler-Jones Syndrome

GO Terms for Culler-Jones Syndrome

Cellular components related to Culler-Jones Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary tip GO:0097542 8.96 GLI3 GLI2
2 ciliary base GO:0097546 8.62 GLI3 GLI2

Biological processes related to Culler-Jones Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.18 ZIC2 TGIF1 SIX3 PHF2 GLI3 GLI2
2 multicellular organism development GO:0007275 10.12 ZIC2 SIX3 SHH IHH GLI2 CCM2
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 SIX3 SHH IHH GLI3 GLI2 CDON
4 positive regulation of transcription, DNA-templated GO:0045893 10.07 ZIC2 SHH PHF2 GLI3 GLI2
5 negative regulation of apoptotic process GO:0043066 10.02 SHH IHH GLI3 GLI2
6 heart development GO:0007507 9.96 SHH GLI3 GLI2 CCM2
7 brain development GO:0007420 9.93 ZIC2 SIX3 GLI3
8 axon guidance GO:0007411 9.92 SHH GLI3 GLI2
9 in utero embryonic development GO:0001701 9.92 IHH GLI3 GLI2 CCM2
10 regulation of cell proliferation GO:0042127 9.91 SIX3 SHH GLI3
11 central nervous system development GO:0007417 9.88 ZIC2 SHH GLI3
12 kidney development GO:0001822 9.88 SHH GLI3 GLI2
13 lung development GO:0030324 9.86 SHH GLI3 GLI2
14 camera-type eye development GO:0043010 9.84 SHH IHH GLI3
15 anatomical structure development GO:0048856 9.83 SHH GLI3 GLI2
16 anterior/posterior pattern specification GO:0009952 9.83 SHH GLI3 GLI2 CDON
17 negative regulation of cell differentiation GO:0045596 9.82 SHH IHH GLI3
18 odontogenesis of dentin-containing tooth GO:0042475 9.81 SHH GLI3 GLI2
19 inner ear development GO:0048839 9.8 SHH GLI3 CCM2
20 embryonic limb morphogenesis GO:0030326 9.76 SHH GLI3
21 limb development GO:0060173 9.76 SHH GLI3
22 lens development in camera-type eye GO:0002088 9.76 SIX3 CDON
23 dorsal/ventral pattern formation GO:0009953 9.76 SHH GLI3 GLI2
24 positive regulation of protein import into nucleus GO:0042307 9.75 SHH GLI3
25 neural tube development GO:0021915 9.75 GLI3 GLI2
26 embryonic organ development GO:0048568 9.75 SHH GLI3
27 branching involved in ureteric bud morphogenesis GO:0001658 9.75 SHH GLI3
28 positive regulation of smoothened signaling pathway GO:0045880 9.75 SHH IHH
29 liver regeneration GO:0097421 9.75 IHH GLI3
30 cell fate specification GO:0001708 9.75 SHH IHH CDON
31 T cell differentiation in thymus GO:0033077 9.74 SHH GLI3
32 mammary gland development GO:0030879 9.74 GLI3 GLI2
33 metanephros development GO:0001656 9.74 SHH GLI3
34 oligodendrocyte differentiation GO:0048709 9.74 SHH GLI3
35 branching involved in blood vessel morphogenesis GO:0001569 9.74 SHH IHH
36 pituitary gland development GO:0021983 9.74 SIX3 GLI2
37 neuron fate commitment GO:0048663 9.73 SHH GLI3
38 hair follicle morphogenesis GO:0031069 9.73 SHH GLI2
39 pancreas development GO:0031016 9.73 SHH IHH
40 telencephalon development GO:0021537 9.73 SIX3 GLI3
41 embryonic pattern specification GO:0009880 9.73 SHH IHH
42 negative regulation of smoothened signaling pathway GO:0045879 9.73 GLI3 GLI2
43 branching morphogenesis of an epithelial tube GO:0048754 9.73 SHH GLI3 GLI2
44 proximal/distal pattern formation GO:0009954 9.72 GLI3 GLI2
45 protein autoprocessing GO:0016540 9.72 SHH IHH
46 positive regulation of neuroblast proliferation GO:0002052 9.72 SHH GLI3
47 positive regulation of mesenchymal cell proliferation GO:0002053 9.72 SHH IHH
48 developmental growth GO:0048589 9.72 SHH GLI3 GLI2
49 striated muscle cell differentiation GO:0051146 9.71 SHH CDON
50 hindbrain development GO:0030902 9.71 SHH GLI2

Molecular functions related to Culler-Jones Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.65 ZIC2 TGIF1 SIX3 GLI3 GLI2
2 DNA-binding transcription factor activity GO:0003700 9.62 ZIC2 TGIF1 GLI3 GLI2
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.55 ZIC2 TGIF1 SIX3 GLI3 GLI2
4 sequence-specific double-stranded DNA binding GO:1990837 9.26 TGIF1 SIX3 GLI3 GLI2
5 patched binding GO:0005113 8.62 SHH IHH

Sources for Culler-Jones 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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