{"Name":"Autosomal recessive cutis laxa type 1","DiseaseID__c":"GARD:0008480","id":8480,"encodedName":"autosomal-recessive-cutis-laxa-type-1","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive cutis laxa type 1","Xref_IDs__c":"254222002; C0268351; C536225; DOID:0070144; MEDGEN:78663; MONDO:0019572; ORPHA:90349","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019572","Disease_Description__c":"A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).","GARD_Name__c":"Autosomal recessive cutis laxa type 1","GARD_Synonym__c":"arcl1; autosomal recessive cutis laxa with severe systemic involvement; autosomal recessive cutis laxa, pulmonary emphysema type; cutis laxa, recessive, type i","Curated_Disease_Description_Source__c":"MONDO:0019572","Curated_Disease_Description__c":"A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:90349","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019572","ORPHANET_ID__c":"ORPHA:90349","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cutis laxa autosómica recesiva tipo 1","Spanish_Description_Source__c":"ORPHA:90349","Spanish_Description__c":"La cutis laxa autosómica recesiva de tipo 1 (ARCL1) es un trastorno generalizado del tejido conectivo caracterizado por la asociación de piel arrugada, inelástica, flácida y redundante con severas manifestaciones sistémicas (atelectasia pulmonar y enfisema, anomalías vasculares y divertículos del tracto gastrointestinal y genitourinario).","Spanish_Disease_Name__c":"cutis laxa autosómica recesiva tipo 1","Spanish_GARD_Synonym__c":"arcl1; cutis laxa autosómica recesiva con afectación sistémica grave; cutis laxa autosómica recesiva tipo enfisema pulmonar","Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).","Curated_Disease_Description_Source__c":"MONDO:0019572","GARD_Synonym__c":"arcl1; autosomal recessive cutis laxa with severe systemic involvement; autosomal recessive cutis laxa, pulmonary emphysema type; cutis laxa, recessive, type i","Name":"Autosomal recessive cutis laxa type 1","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cutis Laxa Internationale","Website__c":"https://www.cutislaxa.org/"},{"Account_Name__c":"Cutis Laxa Research Study","Website__c":"http://www.cutislaxa.pitt.edu"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:90349"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:90349"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008480","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK5201","Source__c":"Gene Review","Xref__c":"NBK5201"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268351","Source__c":"C0268351","Xref__c":"C0268351"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070144","Source__c":"MONDO:0019572","Xref__c":"DOID:0070144"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536225","Source__c":"MONDO:0019572","Xref__c":"C536225"},{"URL__c":"https://www.orpha.net/en/disease/detail/90349","Source__c":"C0268351; 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Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002021","HPO_Synonym__c":"Infantile hypertrophic pyloric stenosis; Pylorus stenosis","HPO_Name__c":"Pyloric stenosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011004","HPO_Synonym__c":"Abnormal systemic artery morphology; Abnormality of the systemic arterial tree; Systemic artery abnormality","HPO_Name__c":"Abnormal systemic arterial morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \\\"Buccal\\\" means relating to the cheek. The cheek is part of the midface","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004426","HPO_Synonym__c":"Abnormality of the cheek; Abnormality of the cheeks","HPO_Name__c":"Abnormal cheek morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002107","HPO_Synonym__c":"Collapsed lung","HPO_Name__c":"Pneumothorax","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010750","HPO_Synonym__c":"Baggy eyes; Droopy eyelid skin; Extra eyelid skin; Eyelid dermatochalasia; Redundant eyelid skin","HPO_Name__c":"Dermatochalasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100679","HPO_Name__c":"Lack of skin elasticity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000929","HPO_Synonym__c":"Abnormality of the skull","HPO_Name__c":"Abnormal skull morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Stenosis of a peripheral branch of the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004969","HPO_Synonym__c":"Narrowing of peripheral lung artery; peripheral pulmonary stenosis; Peripheral pulmonic stenosis","HPO_Name__c":"Peripheral pulmonary artery stenosis","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. 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Skin laxity","HPO_Name__c":"Cutis laxa","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal outpouching or sac-like dilatation in the wall of an artery, vein or the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002617","HPO_Synonym__c":"Aneurysmal dilatation; Wider than typical opening or gap","HPO_Name__c":"Vascular dilatation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the cardiac ventricular function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030872","HPO_Name__c":"Abnormal cardiac ventricular function","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A partial dislocation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032153","HPO_Name__c":"Joint subluxation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025167","HPO_Name__c":"Fragmented elastic fibers in the dermis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Displacement of the femur from its normal location in the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002827","HPO_Synonym__c":"Dislocated femoral heads; Dislocated hips; Dislocation of hip; Dislocation of the femoral head; Hip dislocation","HPO_Name__c":"Hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002756","HPO_Synonym__c":"Spontaneous fracture","HPO_Name__c":"Pathologic fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006698","HPO_Name__c":"Dilatation of the ventricular cavity","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Repeated infections of the urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000010","HPO_Synonym__c":"Frequent urinary tract infections; Recurrent UTIs; Repeated bladder infections; Repeated urinary tract infections; Urinary tract infections; Urinary tract infections, recurrent","HPO_Name__c":"Recurrent urinary tract infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a diverticulum (sac or pouch) in the wall of the urethra.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008722","HPO_Name__c":"Urethral diverticulum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012619","HPO_Synonym__c":"Multiple pouches in bladder wall","HPO_Name__c":"Multiple bladder diverticula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90349","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Rheumatology","Gastroenterology","Dermatology","Orthopedics","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":["arcl1"," autosomal recessive cutis laxa with severe systemic involvement"," autosomal recessive cutis laxa, pulmonary emphysema type"," cutis laxa, recessive, type i"]}