A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. (DO)
bacteriuria
bladder disease +
CAKUT +
cartilage cancer
Ciliary Motility Disorders +
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D
diarrhea +
Digestive System Abnormalities +
Digestive System Fistula +
Digestive System Neoplasms +
discitis
esophageal disease +
Fibrocartilaginous Embolism
gastroenteritis +
gastrointestinal anthrax +
Gastrointestinal defects and immunodeficiency syndrome +
Gastrointestinal Hemorrhage +
Gastrointestinal Motility Disorders +
Gastrointestinal Neoplasms +
gastrointestinal toxicity
gastrointestinal tuberculosis +
gastrointestinal tularemia
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets
hepatobiliary disease +
influenza +
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
intestinal disease +
Keutel Syndrome
kidney disease +
Kilquist Syndrome
laryngomalacia +
lower respiratory tract disease +
mouth disease +
NATURAL KILLER CELL ENTEROPATHY
neonatal urinary tract infectious disease
Novak Syndrome
Osteochondritis +
osteochondrodysplasia +
pancreas disease +
Pectus Carinatum
Peritoneal Diseases +
pyuria
Respiration Disorders +
respiratory allergy +
Respiratory System Abnormalities +
respiratory toxicity
Respiratory Tract Fistula +
Respiratory Tract Granuloma +
Respiratory Tract Infections +
Respiratory Tract Neoplasms +
Siegler Brewer Carey Syndrome
stomach disease +
thoracic disease +
Tietze's syndrome
tracheal disease +
Tracheobronchomalacia +
upper respiratory tract disease +
ureteral disease +
urethral disease +
urinary system benign neoplasm +
urinary system cancer +
urinary tract infection +
urinary tract obstruction +
Urination Disorders +
urofacial syndrome +
urolithiasis +
Visceral Prolapse
Synonyms
Exact Synonyms:
ARCL1C
;
URDS
;
Urban-Rifkin-Davis syndrome
;
autosomal recessive cutis laxa type 1C
;
cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities