| Disease Browser
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Parent Node:
 Ichthyosis (D007057) | ..Starting node
.. Ichthyosis, Congenital, Autosomal Recessive, Ichthyin-Related (C567370)
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Child Nodes:
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Sister Nodes: | ..Acquired ichthyosis (C538175)
| ..Camptodactyly-ichthyosis syndrome (C537976)
| ..Cataract and congenital ichthyosis (C538281)
| ..Deal Barratt Dillon syndrome (C538206)
| ..Dykes Markes Harper syndrome (C535727)
| ..Erythrokeratoderma, Reticular (C563781)
| ..Grover's disease (C537306)
| ..HID Syndrome (C566528)
| ..Ichthyosiform Erythroderma, Congenital (D016113)  18
| ..Ichthyosis Bullosa of Siemens (D053560)
| ..Ichthyosis cheek eyebrow syndrome (C536084)
| ..Ichthyosis Exfoliativa (C563978)
| ..Ichthyosis follicularis atrichia photophobia syndrome (C536085)
| ..Ichthyosis hystrix gravior (C536087)
| ..Ichthyosis hystrix, Curth Macklin type (C536088)
| ..Ichthyosis prematurity syndrome (C536271)
| ..Ichthyosis tapered fingers midline groove up (C536272)
| ..Ichthyosis Vulgaris (D016112) 1
| ..Ichthyosis with hypotrichosis, autosomal recessive (C536273) 1
| ..ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
| ..Ichthyosis, Congenital, Autosomal Recessive, Ichthyin-Related (C567370)
| ..Ichthyosis, Congenital, with Trichothiodystrophy (C566643)
| ..Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis (C566554) 1
| ..Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis (C564365)
| ..Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274)
| ..Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive (C565749)
| ..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
| ..Ichthyosis, X-Linked (D016114) 2
| ..Ichthyosis, X-Linked, Complicated (C567443)
| ..Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
| ..Jagell Holmgren Hofer syndrome (C537364)
| ..Keratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
| ..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
| ..Koone Rizzo Elias syndrome (C537023)
| ..Neu Laxova syndrome (C536405)
| ..Osteosclerosis with Ichthyosis and Fractures (C563483)
| ..Rud Syndrome (C535878)
| ..Ruzicka Goerz Anton syndrome (C537192)
| ..Sammartino De Crecchio Syndrome (C537229)
| ..Sjogren-Larsson Syndrome (D016111) 1
| ..Stormorken Syndrome (C566108)
| ..Trichodysplasia-Xeroderma (C566032)
| ..Zunich neuroectodermal syndrome (C536729)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 5674 |
| Name: | Ichthyosis, Congenital, Autosomal Recessive, Ichthyin-Related |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D007057 |
| TreeNumbers: | C16.131.831.512/C567370 |C16.614.492/C567370 |C17.800.428.333/C567370 |C17.800.804.512/C567370 |
| Synonyms: | Arcii |
| Slim Mappings: | Congenital abnormality|Infant-newborn disease|Skin disease |
| Reference: |
MedGen: C567370
MeSH: C567370
OMIM: 612281;
Genes: NIPAL4; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_001099287.1(NIPAL4):c.433C>T (p.Arg145Ter) | 348938 | NIPAL4 | Pathogenic | 199422216 | RCV000001799; | N | MedGen:C2677065,OMIM:612281 | 5 | 156890311 | 156890311 | NM_001099287.1:c.433C>T | NP_001092757.1:p.Arg145Ter | NC_000005.9:g.156890311C>T | OMIM Allelic Variant:609383.0001 | C2677065 612281 Autosomal recessive congenital ichthyosis 6 | | | | NM_001099287.1(NIPAL4):c.527C>A (p.Ala176Asp) | 348938 | NIPAL4 | Pathogenic | 199422217 | RCV000001801; | N | MedGen:C2677065,OMIM:612281 | 5 | 156895736 | 156895736 | NM_001099287.1:c.527C>A | NP_001092757.1:p.Ala176Asp | NC_000005.9:g.156895736C>A | OMIM Allelic Variant:609383.0003 | C2677065 612281 Autosomal recessive congenital ichthyosis 6 | | |
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