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294 Possible Causes for Hypoplastic Toenails, Mutations in the CPT2 Gene

  • Lethal Neonatal Carnitine Palmitoyl Transferase II Deficiency

    toenails.[genome.jp] 'CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.'.[articles.casejournals.com] toenails, microcephaly, agenesis of corpus callosum, polymicrogyria and cerebral calcifications. [6] Babies could appear lethargic and hypotonic soon after birth as in the[jcnonweb.com]

  • Late-Onset Carnitine Palmitoyl Transferase II Deficiency

    toenails.[genome.jp] CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.[ghr.nlm.nih.gov] Mutations in the CPT2 gene are responsible for CPT II deficiency and sequencing of this gene is recommended after positive biochemical analysis.[mayomedicallaboratories.com]

  • Severe Infantile Carnitine Palmitoyl Transferase II Deficiency

    toenails Increased T cell count Abnormality of skin morphology Enlargement of parotid gland Abnormal cardiac ventricular function Polycystic kidney dysplasia Hyperammonemia[mendelian.co] […] in the CPT2 gene for each patient, three of which are novel.[semanticscholar.org] Etiology Missense mutations in the CPT2 gene result in the infantile form of CPT II deficiency.[orpha.net]

  • Carnitine Deficiency

    toenails, microcephaly, agenesis of corpus callosum, polymicrogyria and cerebral calcifications. [6] Babies could appear lethargic and hypotonic soon after birth as in the[jcnonweb.com] CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.[ghr.nlm.nih.gov] Etiology Missense mutations in the CPT2 gene result in the infantile form of CPT II deficiency.[orpha.net]

  • Hypohidrotic Ectodermal Dysplasia

    toenails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001800 4 abnormality of the fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001231 5 abnormality of dental[malacards.org] toenails Underdeveloped toenails 0001800 Onycholysis Detachment of nail 0001806 Yellow-brown discoloration of the teeth Yellow-brown discolored teeth 0006286 30%-79% of people[rarediseases.info.nih.gov] toenails Onycholysis Yellow-brown discoloration of the teeth Frequently present symptoms in 30-79% of the cases: Abnormality of dental morphology Advanced eruption of teeth[dovemed.com]

    Missing: Mutations in the CPT2 Gene
  • Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

    […] cleft Polyuria Premature graying of hair Unilateral renal agenesis Infantile muscular hypotonia Open bite Tracheoesophageal fistula Incoordination Increased body weight Hypoplastic[mendelian.co] Carnitine Palmitoyltransferase II (CPT2) Autosomal-recessive mutations in the CPT2 gene (OMIM #600650) cause carnitine palmitoyl-transferase-II (CPT-II) deficiency, the most[ojrd.biomedcentral.com] toenails Abnormality of dental morphology Cholelithiasis Abnormality of the vasculature Progressive hearing impairment Arnold-Chiari malformation Involuntary movements Schizophrenia[mendelian.co]

  • Ehlers-Danlos Syndrome Classic-Like Type 1

    Absent fingernail Aplastic/hypoplastic toenail Periventricular leukomalacia Central hypotonia Aplasia cutis congenita of scalp Porencephalic cyst Venous malformation Double[mendelian.co] The disorder is caused by biallelic mutations in the CPT2 gene.[bredagenetics.com] […] fifth toenail Pulmonary arteriovenous malformation Cutis marmorata telangiectatica congenita Periventricular cysts Absent toe Absent hand Abnormal pulmonary valve morphology[mendelian.co]

  • Dubowitz Syndrome

    toenails Underdeveloped toenails 0001800 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Lymphoma Cancer of lymphatic system 0002665 Malabsorption[rarediseases.info.nih.gov] toenails Joint hyperflexibility Lymphoma Malabsorption Metatarsus adductus Myopia Nystagmus Pectus excavatum Rectal prolapse Sacral dimple Scoliosis Seizures Spina bifida[dovemed.com] […] more ] 0000218 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hydronephrosis 0000126 Hypoparathyroidism Decreased parathyroid hormone secretion 0000829 Hypoplastic[rarediseases.info.nih.gov]

    Missing: Mutations in the CPT2 Gene
  • BOD Syndrome

    toenails Underdeveloped toenails 0001800 Long philtrum 0000343 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head[rarediseases.info.nih.gov] Brachydactyly Delayed skeletal maturation Fingernail dysplasia Hypoplastic fifth fingernail Hypoplastic toenails Long philtrum Microcephaly Short distal phalanx of toe Toenail[dovemed.com] The relationship between these syndromes is presently unknown. 0002750 Fingernail dysplasia Abnormal fingernail development 0100798 Hypoplastic fifth fingernail Underdeveloped[rarediseases.info.nih.gov]

    Missing: Mutations in the CPT2 Gene
  • Schneckenbecken Dysplasia

    toenails Occasionally present symptoms in 5-29% of the cases: In addition to the above, the following signs and symptoms may be present: Anterior rib cupping Advanced ossification[dovemed.com] toenails Underdeveloped toenails 0001800 5%-29% of people have these symptoms Accelerated skeletal maturation Advanced bone age Early bone maturation [ more ] 0005616 Advanced[rarediseases.info.nih.gov] Micromelia Narrow chest Polyhydramnios Short neck Short ribs Frequently present symptoms in 30-79% of the cases: Abnormality of the fingernails Cryptorchidism Dolichocephaly Hypoplastic[dovemed.com]

    Missing: Mutations in the CPT2 Gene

Further symptoms