Rapp-Hodgkin Syndrome (OFC8)

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OMIM 57 129400 Disease Ontology 12 DOID:0060330 MeSH 44 C535289 D004476 D002971

MedGen 42 C1785148 CN203427 C1851878 C1851879 more SNOMED-CT via HPO 69 263681008 204888000 289469003 14582003 63567004 87979003 18910001 80281008 229727006 232416001 278714002 103276001 15188001 343087000 95828007 249322008 11934000 64969001 277797007 45004005 204208005 253217007 373413006 11375002 52897009 247546006 237836003 7731005 more UMLS 73 C1785148 C1851878

NIH Rare Diseases : ⁵³ Rapp-Hodgkin syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. This condition is characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate. Other common features include sparse, brittle, and dry hair with alopecia in adulthood together with hypohidrosis (a reduced ability to sweat) and heat intolerance, dental anomalies (hypodontia (absent teeth) , cone-shaped incisors and enamel hypoplasia (thin or absent tooth enamel) and dysplastic (misshapen or absent) nails. Rapp-Hodgkin syndrome is transmitted as an autosomal dominanttrait and is caused by mutations in the TP63 gene. Treatment is symptomatic and supportive. A multidisciplinary team of specialists in medical genetics, dermatology, ophthalmology, otolaryngology, audiology, dentistry and prosthodontics, plastic surgery, gastroenterology, and psychiatry is recommended.Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum.

MalaCards based summary : Rapp-Hodgkin Syndrome, also known as rapp-hodgkin ectodermal dysplasia syndrome, is related to ankyloblepharon-ectodermal defects-cleft lip/palate and split-hand/foot malformation 1, and has symptoms including pachyonychia An important gene associated with Rapp-Hodgkin Syndrome is TP63 (Tumor Protein P63), and among its related pathways/superpathways is TP53 Network. Affiliated tissues include skin, lung and bone, and related phenotypes are ptosis and hearing impairment

Disease Ontology : ¹² An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.

UniProtKB/Swiss-Prot : ⁷⁵ Ectodermal dysplasia, Rapp-Hodgkin type: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the combination of anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The clinical syndrome is comprised of a characteristic facies (narrow nose and small mouth), wiry, slow- growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, dystrophic nails, and cleft lip/cleft palate. Non-syndromic orofacial cleft 8: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

Wikipedia : ⁷⁶ Rapp�??Hodgkin syndrome was formerly thought to be a unique autosomal dominant disorder due to a P63... more...

Description from OMIM: 129400

Clinical features from OMIM:

129400

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.28	BCL10 SATB2 SNCA TP73
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.28	BCL10 SATB2 SNCA TP63 TP73

Search Clinical Trials , NIH Clinical Center for Rapp-Hodgkin Syndrome

Search GEO for disease gene expression data for Rapp-Hodgkin Syndrome.