Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome; Chime

Description

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 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome; Chime

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Muscular hypotonia
  • Ptosis
And another 82 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome; Chime Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PIGL sequencing.

By Genetic Services Laboratory University of Chicago in United States.

PIGL
Specificity
100 %
Genes
100 %
PIGL deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

PIGL
Specificity
100 %
Genes
100 %
CHIME syndrome (sequence analysis of PIGL gene).

By CGC Genetics in Portugal.

PIGL
Specificity
100 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics in Portugal.

SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics in Portugal.

SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
100 %
CHIME syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PIGL
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Congenital Disorders of Glycosylation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Congenital Disorders of Glycosylation: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG12, B4GALT1, SLC35A1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
PIGL.

By Fulgent Genetics Fulgent Genetics in United States.

PIGL
Specificity
100 %
Genes
100 %

Alternate names

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome; Chime Is also known as chime syndrome, zunich neuroectodermal syndrome, glycosylphosphatidylinositol biosynthesis defect 5;gpibd5;coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; congenital disorder of glycosylation due to pigl deficiency; neuroectodermal dysplasia, chime type; neuroectodermal syndrome, zunich type; pigl-cdg; zunich-kaye syndrome.



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