CHIME
MCID: CLB017
MIFTS: 40

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome (CHIME)

Categories: Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

MalaCards integrated aliases for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

Name: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 57
Chime Syndrome 57 53 59 74 37 13 40
Zunich Neuroectodermal Syndrome 57 53 74 29 6 72
Glycosylphosphatidylinositol Biosynthesis Defect 5 57 74
Gpibd5 57 74
Chime 57 74
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies Syndrome 6
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation and Ear Anomalies Syndrome 74
Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome 59
Congenital Disorder of Glycosylation Due to Pigl Deficiency 59
Glycosylphosphatidylinositol Biosynthesis Defect 5; Gpibd5 57
Neuroectodermal Dysplasia, Chime Type 59
Neuroectodermal Syndrome, Zunich Type 59
Zunich-Kaye Syndrome 59
Pigl-Cdg 59

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
wide-based gait
chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies


HPO:

32
coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 280000
KEGG 37 H01487
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1848392
Orphanet 59 ORPHA3474
MedGen 42 C1848392
UMLS 72 C1848392

Summaries for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

OMIM : 57 Zunich neuroectodermal syndrome is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (280000)

MalaCards based summary : Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome, also known as chime syndrome, is related to sudden infant death syndrome and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, and has symptoms including seizures An important gene associated with Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome is PIGL (Phosphatidylinositol Glycan Anchor Biosynthesis Class L), and among its related pathways/superpathways is Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The drugs Gastrointestinal Agents and Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and skin, and related phenotypes are hypertelorism and ptosis

KEGG : 37
CHIME syndrome (coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome), also known as Zunich neuroectodermal syndrome, is an autosomal recessive disorder characterized by colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation, and ear defects, including conductive hearing loss. Homozygous and compound heterozygous mutations in PIGL lead to this disorder.

UniProtKB/Swiss-Prot : 74 Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome: An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties.

Related Diseases for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Diseases related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 sudden infant death syndrome 10.3
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
3 mucositis 10.3
4 brachydactyly 10.3
5 ectodermal dysplasia 10.3
6 infantile apnea 10.2
7 autoimmune disease 10.1
8 coloboma of macula 10.1
9 nevus, epidermal 10.1
10 coronary heart disease 1 10.1
11 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
12 leukemia, acute lymphoblastic 10.1
13 alacrima, achalasia, and mental retardation syndrome 10.1
14 exanthem 10.1
15 autosomal recessive disease 10.1
16 lymphocytic leukemia 10.1
17 keratosis 10.1
18 ischemia 10.1
19 b-cell lymphoma 10.1
20 congenital disorders of n-linked glycosylation and multiple pathway 10.1
21 48,xyyy 10.1
22 retinochoroidal coloboma 10.1
23 apnea of prematurity 10.1

Graphical network of the top 20 diseases related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:



Diseases related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome

Symptoms & Phenotypes for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Human phenotypes related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

59 32 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
5 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
6 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
7 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
8 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
9 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
10 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
11 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
12 microdontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000691
13 aplasia/hypoplasia of the nipples 59 32 hallmark (90%) Very frequent (99-80%) HP:0006709
14 abnormal dermatoglyphics 59 32 hallmark (90%) Very frequent (99-80%) HP:0007477
15 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
16 hypodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000668
17 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
18 retinal coloboma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000480
19 abnormality of the outer ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000356
20 abnormality of epiphysis morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005930
21 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
22 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
23 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
24 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
25 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
26 tetralogy of fallot 59 32 frequent (33%) Frequent (79-30%) HP:0001636
27 increased number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0011069
28 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
29 transposition of the great arteries 59 32 frequent (33%) Frequent (79-30%) HP:0001669
30 aplasia/hypoplasia of the phalanges of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0009767
31 aplasia/hypoplasia of the phalanges of the toes 59 32 frequent (33%) Frequent (79-30%) HP:0010173
32 pulmonary valve atresia 59 32 frequent (33%) Frequent (79-30%) HP:0010882
33 aplastic clavicle 32 frequent (33%) HP:0006660
34 hyperkeratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000962
35 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
36 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
37 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
38 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
39 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
40 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
41 hypotrichosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001006
42 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
43 fine hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002213
44 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
45 clubbing of toes 59 32 occasional (7.5%) Occasional (29-5%) HP:0100760
46 acute lymphoblastic leukemia 32 very rare (1%) HP:0006721
47 frontal bossing 32 HP:0002007
48 muscular hypotonia 32 HP:0001252
49 widely spaced teeth 32 HP:0000687
50 depressed nasal bridge 32 HP:0005280

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
retinal coloboma
epicanthal folds

Head And Neck Teeth:
widely spaced teeth
bifid incisor

Head And Neck Face:
prominent forehead
short philtrum

Head And Neck Neck:
webbed neck

Genitourinary Kidneys:
hydronephrosis
duplicated renal collecting system

Skeletal Hands:
large hands
thickened palms
fifth finger clinodactyly/camptodactyly

Neurologic Behavioral Psychiatric Manifestations:
violent behavior
self-abusive behavior

Head And Neck Ears:
conductive hearing loss
overfolded helices

Head And Neck Nose:
broad, flat nasal bridge

Skeletal Skull:
flattened occiput

Growth Weight:
birth weight > 90th percentile

Neoplasia:
acute lymphoblastic leukemia (in 1 patient)

Neurologic Central Nervous System:
seizures
cerebral atrophy
hypotonia
mental retardation

Head And Neck Head:
brachycephaly

Head And Neck Mouth:
cleft palate
wide mouth
full lips

Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect
peripheral pulmonic stenosis

Genitourinary Ureters:
ureteropelvic junction obstruction

Skin Nails Hair Hair:
sparse hair
light, fine hair

Chest Breasts:
low-set nipples
small nipples

Skeletal Feet:
large feet
thickened soles
broad second toes

Cardiovascular Vascular:
transposition of great vessels

Growth Height:
birth length > 90th percentile

Skin Nails Hair Skin:
migratory ichthyosiform dermatosis
thickened palms and soles

Clinical features from OMIM:

280000

UMLS symptoms related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:


seizures

Drugs & Therapeutics for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Drugs for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Gastrointestinal Agents Phase 2
2 Bile Acids and Salts Phase 2
3 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Impulsive Aggression in Subjects With ADHD in Conjunction With Standard ADHD Treatment (CHIME 2) Unknown status NCT02618434 Phase 3 SPN-810;Placebo
2 Assessment of Efficacy and Safety of SPN-810 for the Treatment of Impulsive Aggression (IA) in Adolescent Subjects With Attention Deficit/Hyperactivity Disorder (ADHD) in Conjunction With Standard ADHD Treatment Recruiting NCT03597503 Phase 3 SPN-810;Placebo
3 Treatment of Impulsive Aggression in Subjects With ADHD in Conjunction With Standard ADHD Treatment (CHIME 4) Recruiting NCT02691182 Phase 3 SPN-810
4 Treatment of Impulsive Aggression in Subjects With ADHD in Conjunction With Standard ADHD Treatment (CHIME 1) Recruiting NCT02618408 Phase 3 SPN-810;Placebo
5 Restoring the Beneficial Effects of Enterohepatic Bile Salt Signalling by Chyme Reinfusion in Patients With a Double Enterostomy Completed NCT02990195 Phase 2
6 Incidence and Severity of Cardiorespiratory Events in Infants at Increased Epidemiological Risk for Sudden Infant Death Syndrome (SIDS) Completed NCT00004392
7 A Pilot Study to Determine the Effect of a Cobiotic Formulation on the Fecal Bacteroidetes: Firmicutes Ratio in Pre-Diabetic Subjects. Completed NCT01724736 Placebo;NM504:
8 Smart Phone Medication Adherence Saves Kidneys--SMASK Active, not recruiting NCT02827695
9 Program to Avoid Cerebrovascular Events Through Systematic Electronic Tracking and Tailoring of an Eminent Risk-factor Not yet recruiting NCT03401489
10 A Pilot Safety and Tolerability Study of the Use of the EndoBarrier® SANS™ in Over-weight or Obese Type 2 Diabetic Subjects Terminated NCT02443753

Search NIH Clinical Center for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome

Genetic Tests for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Genetic tests related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

# Genetic test Affiliating Genes
1 Zunich Neuroectodermal Syndrome 29 PIGL

Anatomical Context for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

MalaCards organs/tissues related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

41
Heart, Eye, Skin, Kidney, Brain

Publications for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Articles related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

(show all 17)
# Title Authors PMID Year
1
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 38 8 71
22444671 2012
2
Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. 38 8 71
7666399 1995
3
Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities. 8 71
8893234 1996
4
Autosomal recessive transmission of neuroectodermal syndrome. 8 71
3041916 1988
5
Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome. 38 8
9295069 1997
6
Congenital migratory ichthyosiform dermatosis with neurologic and ophthalmologic abnormalities. 8
4037840 1985
7
Additional case report of new neuroectodermal syndrome. 8
6711621 1984
8
New syndrome of congenital ichthyosis with neurologic abnormalities. 8
6192719 1983
9
A step closer in defining glycosylphosphatidylinositol anchored proteins role in health and glycosylation disorders. 38
30094187 2018
10
Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders. 38
30023290 2018
11
Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency. 38
29444765 2018
12
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? 38
29473937 2018
13
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome. 38
28371479 2017
14
Mutations in PIGL in a patient with Mabry syndrome. 38
25706356 2015
15
A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. 38
18271001 2008
16
Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome. 38
19706204 2008
17
What syndrome is this? CHIME syndrome. 38
11438011 2001

Variations for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

ClinVar genetic disease variations for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

6 (show all 34)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PIGL NM_004278.4(PIGL): c.274del (p.Leu92fs) deletion Pathogenic 17:16137323-16137323 17:16234009-16234009
2 PIGL NM_004278.4(PIGL): c.652C> T (p.Gln218Ter) single nucleotide variant Pathogenic rs139004722 17:16221214-16221214 17:16317900-16317900
3 PIGL NM_004278.4(PIGL): c.427-1G> A single nucleotide variant Pathogenic 17:16216860-16216860 17:16313546-16313546
4 PIGL NM_004278.4(PIGL): c.424C> A (p.Leu142Met) single nucleotide variant Conflicting interpretations of pathogenicity rs115958467 17:16203290-16203290 17:16299976-16299976
5 PIGL NM_004278.4(PIGL): c.500T> C (p.Leu167Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145303331 17:16220000-16220000 17:16316686-16316686
6 PIGL NM_004278.4(PIGL): c.*185A> C single nucleotide variant Uncertain significance rs886052644 17:16229397-16229397 17:16326083-16326083
7 PIGL NM_004278.4(PIGL): c.420C> T (p.Ile140=) single nucleotide variant Uncertain significance rs374713933 17:16203286-16203286 17:16299972-16299972
8 PIGL NM_004278.4(PIGL): c.446G> C (p.Gly149Ala) single nucleotide variant Uncertain significance rs140211194 17:16216880-16216880 17:16313566-16313566
9 PIGL NM_004278.4(PIGL): c.*184A> C single nucleotide variant Uncertain significance rs886052643 17:16229396-16229396 17:16326082-16326082
10 PIGL NM_004278.4(PIGL): c.*324A> G single nucleotide variant Uncertain significance rs886052645 17:16229536-16229536 17:16326222-16326222
11 PIGL NM_004278.4(PIGL): c.254_255GA[2] (p.Glu86fs) short repeat Uncertain significance rs763616470 17:16137307-16137308 17:16233993-16233994
12 PIGL NM_004278.4(PIGL): c.542C> T (p.Thr181Met) single nucleotide variant Uncertain significance rs748231024 17:16221104-16221104 17:16317790-16317790
13 PIGL NM_004278.4(PIGL): c.*254T> C single nucleotide variant Uncertain significance rs144070256 17:16229466-16229466 17:16326152-16326152
14 PIGL NM_004278.4(PIGL): c.336-2A> G single nucleotide variant Uncertain significance 17:16203200-16203200 17:16299886-16299886
15 PIGL NM_004278.4(PIGL): c.263G> A (p.Arg88His) single nucleotide variant Uncertain significance 17:16137312-16137312 17:16233998-16233998
16 PIGL NM_004278.4(PIGL): c.426+8G> A single nucleotide variant Uncertain significance rs145914582 17:16203300-16203300 17:16299986-16299986
17 PIGL NM_004278.4(PIGL): c.426+14T> C single nucleotide variant Uncertain significance rs138467285 17:16203306-16203306 17:16299992-16299992
18 PIGL NM_004278.4(PIGL): c.439G> A (p.Asp147Asn) single nucleotide variant Uncertain significance rs148238492 17:16216873-16216873 17:16313559-16313559
19 PIGL NM_004278.4(PIGL): c.480G> A (p.Leu160=) single nucleotide variant Uncertain significance rs114697377 17:16216914-16216914 17:16313600-16313600
20 PIGL NM_004278.4(PIGL): c.493A> C (p.Arg165=) single nucleotide variant Uncertain significance rs184077858 17:16216927-16216927 17:16313613-16313613
21 PIGL NM_004278.4(PIGL): c.526+10G> A single nucleotide variant Uncertain significance rs138410893 17:16220036-16220036 17:16316722-16316722
22 PIGL NM_004278.4(PIGL): c.540C> T (p.Leu180=) single nucleotide variant Uncertain significance rs115695383 17:16221102-16221102 17:16317788-16317788
23 PIGL NM_004278.4(PIGL): c.595T> C (p.Leu199=) single nucleotide variant Uncertain significance rs114176862 17:16221157-16221157 17:16317843-16317843
24 PIGL NM_004278.4(PIGL): c.627C> T (p.Phe209=) single nucleotide variant Uncertain significance rs146164310 17:16221189-16221189 17:16317875-16317875
25 PIGL NM_004278.4(PIGL): c.652C> G (p.Gln218Glu) single nucleotide variant Uncertain significance rs139004722 17:16221214-16221214 17:16317900-16317900
26 PIGL NM_004278.4(PIGL): c.354A> G (p.Pro118=) single nucleotide variant Uncertain significance rs149094276 17:16203220-16203220 17:16299906-16299906
27 PIGL NM_004278.4(PIGL): c.534T> C (p.Ser178=) single nucleotide variant Uncertain significance rs114145762 17:16221096-16221096 17:16317782-16317782
28 PIGL NM_004278.4(PIGL): c.535G> A (p.Val179Met) single nucleotide variant Uncertain significance rs116591352 17:16221097-16221097 17:16317783-16317783
29 PIGL NM_004278.4(PIGL): c.4G> A (p.Glu2Lys) single nucleotide variant Uncertain significance rs150000731 17:16120544-16120544 17:16217230-16217230
30 PIGL NM_004278.4(PIGL): c.30G> T (p.Ala10=) single nucleotide variant Uncertain significance rs147669920 17:16120570-16120570 17:16217256-16217256
31 PIGL NM_004278.4(PIGL): c.169T> C (p.Phe57Leu) single nucleotide variant Uncertain significance rs587784324 17:16120709-16120709 17:16217395-16217395
32 PIGL NM_004278.4(PIGL): c.337G> T (p.Asp113Tyr) single nucleotide variant Uncertain significance rs114670807 17:16203203-16203203 17:16299889-16299889
33 PIGL NM_004278.4(PIGL): c.*86A> G single nucleotide variant Likely benign rs2302314 17:16229298-16229298 17:16325984-16325984
34 PIGL NM_004278.4(PIGL): c.*20A> G single nucleotide variant Benign rs15739 17:16229232-16229232 17:16325918-16325918

UniProtKB/Swiss-Prot genetic disease variations for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 PIGL p.Leu167Pro VAR_068221 rs145303331

Expression for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Search GEO for disease gene expression data for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome.

Pathways for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Pathways related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis hsa00563

GO Terms for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Sources for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

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73 UMLS via Orphanet
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