Bartsocas-papas syndrome 1

Preferred Label : Bartsocas-papas syndrome 1;

Symbol : BPS1;

CISMeF acronym : BPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pterygium, popliteal, lethal type; Multiple pterygium syndrome, aslan type; Popliteal pterygium syndrome, lethal type; Popliteal pterygium syndrome, bartsocas-papas type 1;

Description : Bartsocas-Papas syndrome (lethal popliteal pterygium syndrome) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). A less severe form of popliteal pterygium syndrome (119500) is caused by mutation in the IRF6 gene (607199).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the receptor-interacting serine-threonine kinase-4 gene (RIPK4, 605706.0001);

Prefixed ID : #263650;

Détails

Origin ID

263650;

UMLS CUI

C1849718;

Automatic exact mappings (from CISMeF team)
- Binding Potential [NCIt concept]
- Bleomycin/Cisplatin [NCIt concept]
- Multiple pterygium syndrome, Aslan type [ICD-11 More detail]
- bovine papular stomatitis [SNOMED Notion]
Currated CISMeF NLP mapping
- Autosomal recessive popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- Bartsocas Papas syndrome [Disease (Nov.)]
- Bartsocas-Papas Syndrome [NCIt concept]
- Bartsocas-Papas syndrome [PASCAL descriptor]
- Bartsocas-Papas syndrome [ICD-11 More detail]
- Bartsocas-Papas syndrome [ORDO Disease]
- Multiple pterygium syndrome, Aslan type [ORDO Disease]
- popliteal pterygium syndrome, lethal type [MeSH concept]
- popliteal pterygium syndrome, lethal type [MeSH Supplementary Concept]
DO Cross reference
- popliteal pterygium syndrome [DO Concept]
False automatic mappings
- Blood Pressure [NCIt concept]
- Solomon Islands [NCIt concept]
Genes related to phenotype
- Receptor-interacting serine-threonine kinase 4 [OMIM gene]
HPO term(s)
- Ablepharon [HPO term]
- Absent external genitalia [HPO term]
- Absent eyebrow [HPO term]
- Absent eyelashes [HPO term]
- Absent palmar crease [HPO term]
- Absent radius [HPO term]
- Absent thumb [HPO term]
- Alopecia [HPO term]
- Alopecia totalis [HPO term]
- Ambiguous genitalia [HPO term]
- Anal atresia [HPO term]
- Anal stenosis [HPO term]
- Ankyloblepharon [HPO term]
- Anonychia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axillary pterygium [HPO term]
- Bicornuate uterus [HPO term]
- Bilateral cryptorchidism [HPO term]
- Blepharophimosis [HPO term]
- Cicatricial lagophthalmos [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Congenital onset [HPO term]
- Corneal ulceration [HPO term]
- Cupped ear [HPO term]
- Decreased fetal movement [HPO term]
- Dry skin [HPO term]
- Ectopic kidney [HPO term]
- Ectropion [HPO term]
- Facial cleft [HPO term]
- Fetal onset [HPO term]
- Flexion contracture [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypoplastic labia majora [HPO term]
- Hypoplastic male external genitalia [HPO term]
- Hypoplastic scapulae [HPO term]
- Inferiorly positioned umbilicus [HPO term]
- Inguinal hernia [HPO term]
- Intrauterine growth retardation [HPO term]
- Limb undergrowth [HPO term]
- Low-set ears [HPO term]
- Lower eyelid coloboma [HPO term]
- Mask-like facies [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Microtia [HPO term]
- Oligodactyly [HPO term]
- Omphalocele [HPO term]
- Opacification of the corneal stroma [HPO term]
- Oral synechia [HPO term]
- Patent foramen ovale [HPO term]
- Popliteal pterygium [HPO term]
- Pterygium [HPO term]
- Short metacarpal [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short phalanx of finger [HPO term]
- Short thumb [HPO term]
- Skin tags [HPO term]
- Small nail [HPO term]
- Sparse scalp hair [HPO term]
- Syndactyly [HPO term]
- Talipes equinovarus [HPO term]
- Ulnar bowing [HPO term]
- Underdeveloped nasal alae [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- Bartsocas-Papas syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- Bartsocas Papas syndrome [Disease (Nov.)]
- Bartsocas-Papas Syndrome [NCIt concept]
- Bartsocas-Papas syndrome [ORDO Disease]
- Bartsocas-Papas syndrome [PASCAL descriptor]
- Multiple pterygium syndrome, Aslan type [ORDO Disease]
- popliteal pterygium syndrome, lethal type [MeSH Supplementary Concept]
- popliteal pterygium syndrome, lethal type [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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