Human Phenotype
Ontology
Grandparent Node: Ichthyosis (HP:0008064) Parent Node: Congenital ichthyosiform erythroderma (HP:0007431) ..Starting node .. Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
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: Child Nodes: Sister Nodes: ..Congenital bullous ichthyosiform erythroderma (HP:0007475) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 ABCA12 CL E G H 26154 14637 OMIM:601277 Ichthyosis, congenital, autosomal recessive 4A 130 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 ABHD5 CL E G H 51099 21396 OMIM:275630 Chanarin-Dorfman syndrome . 90 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 ABHD5 CL E G H 51099 21396 ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0040281 - Very frequent 90 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 ALOX12B CL E G H 242 430 OMIM:242100 Ichthyosis, congenital, autosomal recessive 2 . 75 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 ALOXE3 CL E G H 59344 13743 OMIM:242100 Ichthyosis, congenital, autosomal recessive 2 . 63 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 ALOXE3 CL E G H 59344 13743 OMIM:606545 Ichthyosis, congenital, autosomal recessive 3 . 63 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 ASPRV1 CL E G H 151516 26321 OMIM:146750 Ichthyosis, lamellar, autosomal dominant . 1 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 CERS3 CL E G H 204219 23752 OMIM:615023 Ichthyosis, congenital, autosomal recessive 9 5 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 CYP4F22 CL E G H 126410 26820 OMIM:604777 Ichthyosis, congenital, autosomal recessive 5 . 54 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 EBP CL E G H 10682 3133 OMIM:302960 Chondrodysplasia punctata 2, X-linked dominant 51 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 ERCC2 CL E G H 2068 3434 OMIM:601675 Trichothiodystrophy 1, photosensitive . 106 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 ERCC3 CL E G H 2071 3435 OMIM:616390 Trichothiodystrophy 2, photosensitive . 54 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 GBA1 CL E G H 2629 4177 ORPHA:85212 Fetal Gaucher disease HP:0040281 - Very frequent HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 GBA1 CL E G H 2629 4177 OMIM:608013 Gaucher disease, perinatal lethal HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 GTF2H5 CL E G H 404672 21157 OMIM:616395 Trichothiodystrophy 3, photosensitive . 3 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 KDSR CL E G H 2531 4021 OMIM:617526 Erythrokeratodermia variabilis et progressiva 4 4 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 KRT10 CL E G H 3858 6413 OMIM:609165 Erythroderma, ichthyosiform, congenital reticular 45 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 LORICRIN CL E G H 4014 6663 ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0040281 - Very frequent HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 NIPAL4 CL E G H 348938 28018 OMIM:612281 Ichthyosis, congenital, autosomal recessive 6 . 60 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 PNPLA1 CL E G H 285848 21246 OMIM:615024 Ichthyosis, congenital, autosomal recessive 10 47 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 POMP CL E G H 51371 20330 OMIM:601952 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma . 2 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 SPINK5 CL E G H 11005 15464 ORPHA:634 Netherton syndrome HP:0040281 - Very frequent 100 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 SPINK5 CL E G H 11005 15464 OMIM:256500 Netherton syndrome . 100 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 SULT2B1 CL E G H 6820 11459 OMIM:617571 Ichthyosis, congenital, autosomal recessive 14 4 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 TARS1 CL E G H 6897 11572 OMIM:618546 Trichothiodystrophy 7, nonphotosensitive HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 TGM1 CL E G H 7051 11777 ORPHA:100976 Bathing suit ichthyosis HP:0040282 - Frequent 98 HP:0007479 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 0 TGM1 CL E G H 7051 11777 OMIM:242300 Ichthyosis, congenital, autosomal recessive 1 98
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.