Human Phenotype Ontology 
Grandparent Node:
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Ichthyosis (HP:0008064)help
Parent Node:
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Congenital ichthyosiform erythroderma (HP:0007431)help
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Congenital nonbullous ichthyosiform erythroderma (HP:0007479)help
Term ID: 7479
Name: Congenital nonbullous ichthyosiform erythroderma
Synonym: Collodion baby; Congenital lamellar ichthyosis; Congenital non-bullous ichthyosis; Ichthyosis lammellaris; Ichthyosis, congenital, nonblistering; Nonbullous congenital ichthyosiform erythroderma; Nonbullous congenital ichthyosis
Definition: The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Comments:
Reference: HP:0007479
Genes and Diseases:
 
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..expandCongenital bullous ichthyosiform erythroderma (HP:0007475) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040281 - Very frequent90
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2.75
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2.63
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 3.63
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ASPRV1 CL E G H15151626321OMIM:146750Ichthyosis, lamellar, autosomal dominant.1
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 5.54
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0ERCC3 CL E G H20713435OMIM:616390Trichothiodystrophy 2, photosensitive.54
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040281 - Very frequent
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive.3
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 44
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular45
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosisHP:0040281 - Very frequent
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 6.60
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 1047
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma.2
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040281 - Very frequent100
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome.100
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0SULT2B1 CL E G H682011459OMIM:617571Ichthyosis, congenital, autosomal recessive 144
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0TARS1 CL E G H689711572OMIM:618546Trichothiodystrophy 7, nonphotosensitive
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040282 - Frequent98
HP:0007479HP:0007479Congenital nonbullous ichthyosiform erythroderma0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 198


Genes (22) :ABCA12 ABHD5 ALOX12B ALOXE3 ASPRV1 CERS3 CYP4F22 EBP ERCC2 ERCC3 GBA1 GTF2H5 KDSR KRT10 LORICRIN NIPAL4 PNPLA1 POMP SPINK5 SULT2B1 TARS1 TGM1

Diseases (26) :OMIM:601277 OMIM:275630 ORPHA:98907 OMIM:242100 OMIM:606545 OMIM:146750 OMIM:615023 OMIM:604777 OMIM:302960 OMIM:601675 OMIM:616390 ORPHA:85212 OMIM:608013 OMIM:616395 OMIM:617526 OMIM:609165 ORPHA:79395 OMIM:612281 OMIM:615024 OMIM:601952 ORPHA:634 OMIM:256500 OMIM:617571 OMIM:618546 ORPHA:100976 OMIM:242300
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.