CHIME
MCID: CLB017
MIFTS: 41

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 56
Chime Syndrome 56 52 58 73 36 29 13 6 39
Zunich Neuroectodermal Syndrome 56 52 73 71
Glycosylphosphatidylinositol Biosynthesis Defect 5 56 73
Gpibd5 56 73
Chime 56 73
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 73
Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome 58
Congenital Disorder of Glycosylation Due to Pigl Deficiency 58
Glycosylphosphatidylinositol Biosynthesis Defect 5; Gpibd5 56
Neuroectodermal Dysplasia, Chime Type 58
Neuroectodermal Syndrome, Zunich Type 58
Zunich-Kaye Syndrome 58
Pigl-Cdg 58

Characteristics:

Orphanet epidemiological data:

58
chime syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare cardiac malformations
Rare otorhinolaryngological diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


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

OMIM : 56 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 mucositis, 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 Bile Acids and Salts and Hormones have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and kidney, and related phenotypes are hearing impairment and intellectual disability

KEGG : 36 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 : 73 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,...

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:

58 31 (show top 50) (show all 83)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
5 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
6 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
7 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
8 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
9 microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000691
10 aplasia/hypoplasia of the nipples 58 31 hallmark (90%) Very frequent (99-80%) HP:0006709
11 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
12 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
13 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
14 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
15 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
16 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
17 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
18 abnormality of the outer ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000356
19 retinal coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000480
20 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
21 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
22 increased number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0011069
23 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
24 tetralogy of fallot 58 31 frequent (33%) Frequent (79-30%) HP:0001636
25 abnormality of epiphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005930
26 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
27 transposition of the great arteries 58 31 frequent (33%) Frequent (79-30%) HP:0001669
28 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
29 aplasia/hypoplasia of the phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009767
30 aplasia/hypoplasia of the phalanges of the toes 58 31 frequent (33%) Frequent (79-30%) HP:0010173
31 pulmonary valve atresia 58 31 frequent (33%) Frequent (79-30%) HP:0010882
32 seizure 31 frequent (33%) HP:0001250
33 aplastic clavicle 31 frequent (33%) HP:0006660
34 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
35 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
36 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
37 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
38 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
39 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
40 fine hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002213
41 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
42 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
43 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
44 clubbing of toes 58 31 occasional (7.5%) Occasional (29-5%) HP:0100760
45 sparse hair 31 occasional (7.5%) HP:0008070
46 acute lymphoblastic leukemia 31 very rare (1%) HP:0006721
47 depressed nasal bridge 31 HP:0005280
48 muscular hypotonia 31 HP:0001252
49 widely spaced teeth 31 HP:0000687
50 abnormality of the dentition 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
retinal coloboma
epicanthal folds

Neurologic Central Nervous System:
seizures
cerebral atrophy
hypotonia
mental retardation

Head And Neck Face:
prominent forehead
short philtrum

Head And Neck Neck:
webbed neck

Genitourinary Kidneys:
hydronephrosis
duplicated renal collecting system

Genitourinary Ureters:
ureteropelvic junction obstruction

Chest Breasts:
low-set nipples
small nipples

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)

Head And Neck Teeth:
widely spaced teeth
bifid incisor

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

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

Skin Nails Hair Hair:
sparse hair
light, fine hair

Neurologic Behavioral Psychiatric Manifestations:
violent behavior
self-abusive behavior

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 Bile Acids and Salts Phase 2
2 Hormones

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Treatment of Impulsive Aggression in Subjects With ADHD in Conjunction With Standard ADHD Treatment (CHIME 2) Completed NCT02618434 Phase 3 SPN-810;Placebo
2 Treatment of Impulsive Aggression in Subjects With ADHD in Conjunction With Standard ADHD Treatment (CHIME 1) Completed NCT02618408 Phase 3 SPN-810;Placebo
3 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
4 Treatment of Impulsive Aggression in Subjects With ADHD in Conjunction With Standard ADHD Treatment (CHIME 4) Recruiting NCT02691182 Phase 3 SPN-810
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 COVID-19 Health Messaging Efficacy and Its Impact on Public Perception, Anxiety, and Behavior Recruiting NCT04377581
9 Smart Phone Medication Adherence Saves Kidneys--SMASK Active, not recruiting NCT02827695
10 Randomized, Investigator-blinded Study of Compression in Wound Healing With and Without Fractional Ablative CO2 Laser After Excisions on the Lower Extremity (CHIME+) Enrolling by invitation NCT04198454
11 Program to Avoid Cerebrovascular Events Through Systematic Electronic Tracking and Tailoring of an Eminent Risk-factor Not yet recruiting NCT03401489
12 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 Chime 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:

40
Heart, Eye, Kidney, Skin, 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. 61 6 56
22444671 2012
2
Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. 61 6 56
7666399 1995
3
Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities. 6 56
8893234 1996
4
Autosomal recessive transmission of neuroectodermal syndrome. 6 56
3041916 1988
5
Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome. 61 56
9295069 1997
6
Congenital migratory ichthyosiform dermatosis with neurologic and ophthalmologic abnormalities. 56
4037840 1985
7
Additional case report of new neuroectodermal syndrome. 56
6711621 1984
8
New syndrome of congenital ichthyosis with neurologic abnormalities. 56
6192719 1983
9
A step closer in defining glycosylphosphatidylinositol anchored proteins role in health and glycosylation disorders. 61
30094187 2018
10
Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders. 61
30023290 2018
11
Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency. 61
29444765 2018
12
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? 61
29473937 2018
13
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome. 61
28371479 2017
14
Mutations in PIGL in a patient with Mabry syndrome. 61
25706356 2015
15
A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. 61
18271001 2008
16
Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome. 61
19706204 2008
17
What syndrome is this? CHIME syndrome. 61
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 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIGL NM_004278.4(PIGL):c.274del (p.Leu92fs)deletion Pathogenic 30545 rs758633805 17:16137323-16137323 17:16234009-16234009
2 PIGL NM_004278.4(PIGL):c.652C>T (p.Gln218Ter)SNV Pathogenic 30546 rs139004722 17:16221214-16221214 17:16317900-16317900
3 PIGL NM_004278.4(PIGL):c.427-1G>ASNV Pathogenic 30547 rs770084126 17:16216860-16216860 17:16313546-16313546
4 PIGL NM_004278.4(PIGL):c.424C>A (p.Leu142Met)SNV Conflicting interpretations of pathogenicity 159705 rs115958467 17:16203290-16203290 17:16299976-16299976
5 PIGL NM_004278.4(PIGL):c.526+10G>ASNV Conflicting interpretations of pathogenicity 159712 rs138410893 17:16220036-16220036 17:16316722-16316722
6 PIGL NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr)SNV Conflicting interpretations of pathogenicity 159703 rs114670807 17:16203203-16203203 17:16299889-16299889
7 PIGL NM_004278.4(PIGL):c.627C>T (p.Phe209=)SNV Conflicting interpretations of pathogenicity 159717 rs146164310 17:16221189-16221189 17:16317875-16317875
8 PIGL NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)SNV Conflicting interpretations of pathogenicity 30544 rs145303331 17:16220000-16220000 17:16316686-16316686
9 PIGL NM_004278.4(PIGL):c.*254T>CSNV Conflicting interpretations of pathogenicity 321994 rs144070256 17:16229466-16229466 17:16326152-16326152
10 PIGL NM_004278.4(PIGL):c.652C>G (p.Gln218Glu)SNV Uncertain significance 159718 rs139004722 17:16221214-16221214 17:16317900-16317900
11 PIGL NM_004278.4(PIGL):c.354A>G (p.Pro118=)SNV Uncertain significance 159704 rs149094276 17:16203220-16203220 17:16299906-16299906
12 PIGL NM_004278.4(PIGL):c.534T>C (p.Ser178=)SNV Uncertain significance 159713 rs114145762 17:16221096-16221096 17:16317782-16317782
13 PIGL NM_004278.4(PIGL):c.535G>A (p.Val179Met)SNV Uncertain significance 159714 rs116591352 17:16221097-16221097 17:16317783-16317783
14 PIGL NM_004278.4(PIGL):c.540C>T (p.Leu180=)SNV Uncertain significance 159715 rs115695383 17:16221102-16221102 17:16317788-16317788
15 PIGL NM_004278.4(PIGL):c.595T>C (p.Leu199=)SNV Uncertain significance 159716 rs114176862 17:16221157-16221157 17:16317843-16317843
16 PIGL NM_004278.4(PIGL):c.*185A>CSNV Uncertain significance 321993 rs886052644 17:16229397-16229397 17:16326083-16326083
17 PIGL NM_004278.4(PIGL):c.420C>T (p.Ile140=)SNV Uncertain significance 321987 rs374713933 17:16203286-16203286 17:16299972-16299972
18 PIGL NM_004278.4(PIGL):c.446G>C (p.Gly149Ala)SNV Uncertain significance 321988 rs140211194 17:16216880-16216880 17:16313566-16313566
19 PIGL NM_004278.4(PIGL):c.*184A>CSNV Uncertain significance 321992 rs886052643 17:16229396-16229396 17:16326082-16326082
20 PIGL NM_004278.4(PIGL):c.*324A>GSNV Uncertain significance 321995 rs886052645 17:16229536-16229536 17:16326222-16326222
21 PIGL NM_004278.4(PIGL):c.254_255GA[2] (p.Glu86fs)short repeat Uncertain significance 321986 rs763616470 17:16137303-16137304 17:16233989-16233990
22 PIGL NM_004278.4(PIGL):c.542C>T (p.Thr181Met)SNV Uncertain significance 321989 rs748231024 17:16221104-16221104 17:16317790-16317790
23 PIGL NM_004278.4(PIGL):c.426+8G>ASNV Uncertain significance 159707 rs145914582 17:16203300-16203300 17:16299986-16299986
24 PIGL NM_004278.4(PIGL):c.426+14T>CSNV Uncertain significance 159706 rs138467285 17:16203306-16203306 17:16299992-16299992
25 PIGL NM_004278.4(PIGL):c.439G>A (p.Asp147Asn)SNV Uncertain significance 159708 rs148238492 17:16216873-16216873 17:16313559-16313559
26 PIGL NM_004278.4(PIGL):c.480G>A (p.Leu160=)SNV Uncertain significance 159709 rs114697377 17:16216914-16216914 17:16313600-16313600
27 PIGL NM_004278.4(PIGL):c.493A>C (p.Arg165=)SNV Uncertain significance 159710 rs184077858 17:16216927-16216927 17:16313613-16313613
28 PIGL NM_004278.4(PIGL):c.169T>C (p.Phe57Leu)SNV Uncertain significance 159701 rs587784324 17:16120709-16120709 17:16217395-16217395
29 PIGL NM_004278.4(PIGL):c.4G>A (p.Glu2Lys)SNV Uncertain significance 159711 rs150000731 17:16120544-16120544 17:16217230-16217230
30 PIGL NM_004278.4(PIGL):c.30G>T (p.Ala10=)SNV Uncertain significance 159702 rs147669920 17:16120570-16120570 17:16217256-16217256
31 PIGL NM_004278.4(PIGL):c.336-2A>GSNV Uncertain significance 632268 rs369230457 17:16203200-16203200 17:16299886-16299886
32 PIGL NM_004278.4(PIGL):c.263G>A (p.Arg88His)SNV Uncertain significance 638452 17:16137312-16137312 17:16233998-16233998
33 PIGL NM_004278.4(PIGL):c.*318C>ASNV Uncertain significance 890070 17:16229530-16229530 17:16326216-16326216
34 PIGL NM_004278.4(PIGL):c.130C>T (p.Leu44=)SNV Uncertain significance 891823 17:16120670-16120670 17:16217356-16217356
35 PIGL NM_004278.4(PIGL):c.398A>G (p.Gln133Arg)SNV Uncertain significance 891824 17:16203264-16203264 17:16299950-16299950
36 PIGL NM_004278.4(PIGL):c.535G>T (p.Val179Leu)SNV Uncertain significance 889380 17:16221097-16221097 17:16317783-16317783
37 PIGL NM_004278.4(PIGL):c.724C>T (p.Arg242Trp)SNV Uncertain significance 889381 17:16229177-16229177 17:16325863-16325863
38 PIGL NM_004278.4(PIGL):c.*86A>GSNV Benign/Likely benign 321991 rs2302314 17:16229298-16229298 17:16325984-16325984
39 PIGL NM_004278.4(PIGL):c.*20A>GSNV Benign 321990 rs15739 17:16229232-16229232 17:16325918-16325918
40 PIGL NM_004278.4(PIGL):c.*182A>GSNV Benign 890069 17:16229394-16229394 17:16326080-16326080
41 PIGL NM_004278.4(PIGL):c.*364G>ASNV Benign 890071 17:16229576-16229576 17:16326262-16326262

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

73
# 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:

36
# 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,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....