Cutis laxa, autosomal recessive, type ic

Preferred Label : Cutis laxa, autosomal recessive, type ic;

Symbol : ARCL1C;

CISMeF acronym : ARCL1C; URDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Urban-rifkin-davis syndrome; URDS; Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;

Description : Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see 130000). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002). Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013). For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the latent transforming growth factor-beta binding protein 4 gene (LTBP4, 604710.0001);

Prefixed ID : #613177;

Détails

Origin ID

613177;

UMLS CUI

C2750804;

Automatic exact mappings (from CISMeF team)
- Uridine [NCIt concept]
Currated CISMeF NLP mapping
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies [ICD-11 More detail]
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies [ORDO Disease]
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) [SNOMED CT concept]
- autosomal recessive cutis laxa type IC [DO Concept]
- cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities [MeSH concept]
- cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive cutis laxa type IC [DO Concept]
Genes related to phenotype
- Latent transforming growth factor-beta-binding protein 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bladder diverticulum [HPO term]
- Bronchomalacia [HPO term]
- Cutis laxa [HPO term]
- Emphysema [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Inguinal hernia [HPO term]
- Joint laxity [HPO term]
- Laryngomalacia [HPO term]
- Long philtrum [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Patent foramen ovale [HPO term]
- Periorbital edema [HPO term]
- Pulmonary artery stenosis [HPO term]
- Pulmonary hypoplasia [HPO term]
- Pyloric stenosis [HPO term]
- Rectal prolapse [HPO term]
- Retrognathia [HPO term]
- Sandal gap [HPO term]
- Sloping forehead [HPO term]
- Tracheomalacia [HPO term]
- Umbilical hernia [HPO term]
- Vascular dilatation [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies [ORDO Disease]
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies [ICD-11 More detail]
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) [SNOMED CT concept]
- autosomal recessive cutis laxa type IC [DO Concept]
- cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities [MeSH Supplementary Concept]
- cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities [MeSH concept]

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