Edit concept Question Editor Create issue ticket

Amelogenesis Imperfecta Hypomaturation Type IIA5

Amelogenesis Imperfecta Type 2


Presentation

  • Brown pigment is present in middle layers of enamel. Disease Ontology : 12 An amelogenesis imperfecta that has material basis in homozygous mutation in the SLC24A4 gene on chromosome 14q32.[malacards.org]
  • Brown pigment is present in middle layers of enamel. {ECO:0000269 PubMed:23375655, ECO:0000269 PubMed:24621671}. Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]
  • Females that have an altered gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes and only one carries the altered gene.[rarediseases.org]
  • Through our online ordering and statement reporting system, Nucleus, the customer has an access to details of the analysis, including patient specific sequencing metrics, a gene level coverage plot and a list of regions with inadequate coverage if present[blueprintgenetics.com]
Splenomegaly
  • […] maturation Microphthalmia Myopia Intrauterine growth retardation Neoplasm High hypermetropia Hyperphosphatemia Obesity Stenosis of the medullary cavity of the long bones Thrombocytopenia Abnormality of metabolism/homeostasis Intellectual disability, mild Splenomegaly[mendelian.co]
Physician
  • Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition.[varsome.com]
Recurrent Respiratory Infections
  • respiratory infections Cataract Infertility Basal ganglia calcification High pitched voice Hypoparathyroidism Delayed cranial suture closure Hypocalcemia Increased bone mineral density Small nail High myopia Decreased testicular size Neutropenia Papilledema[mendelian.co]
Saddle Nose
  • Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos.[mendelian.co]
Cyanosis
  • […] nostrils Disproportionate tall stature Keratoconjunctivitis Overlapping toe Conical incisor Opisthotonus Keratitis Full cheeks Phimosis Radial deviation of finger Adducted thumb Nasal speech Elbow flexion contracture Recurrent urinary tract infections Cyanosis[mendelian.co]
Dental Caries
Xerostomia
  • In affected individuals, the misdiagnosis is often made of the more prevalent disorder Sjogren syndrome ( OMIM ), an autoimmune condition characterized by keratoconjunctivitis sicca and xerostomia.[mendelian.co]
Flexion Contracture
  • contracture Global developmental delay Milia Premature loss of teeth Proptosis Autosomal recessive inheritance Scoliosis Downslanted palpebral fissures Depressed nasal bridge Ptosis Dilatation Umbilical hernia Thin skin Microdontia Micrognathia Pain[mendelian.co]
Skin Ulcer
  • Periosteal thickening of long tubular bones Anasarca Advanced pneumatization of the mastoid process Growth delay Conductive hearing impairment Depressed nasal ridge Bilateral single transverse palmar creases Generalized hirsutism Low anterior hairline Skin[mendelian.co]
Subcutaneous Nodule
  • nodule Migraine Vertigo Abnormal bleeding Microtia Cutaneous photosensitivity Abnormality of the pinna Microcephaly Bifid uvula Hypoplasia of the maxilla Downturned corners of mouth Synophrys Short philtrum Intellectual disability, moderate Micropenis[mendelian.co]
Ectopia Lentis
  • lentis and with or without secondary glaucoma, 251750 (3) Weill-Marchesani syndrome 3, recessive, 614819 (3) MLH3 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3) Colorectal cancer, somatic, 114500 (3) {Endometrial cancer, susceptibility[mendel.medicina.ufmg.br]
Periorbital Fullness
  • fullness Hypertonia Recurrent corneal erosions Hypoplasia of the corpus callosum Finger clinodactyly Abnormality of digit Radial deviation of the 3rd finger Mitral valve prolapse Episodic fever Reduced consciousness/confusion Periorbital edema Pneumothorax[mendelian.co]
Round Face
  • Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al.,[mendelian.co]
Delayed Speech and Language Development
  • speech and language development and Ophthalmoplegia, related diseases and genetic alterations[mendelian.co]
Dysarthria
  • 7 BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SLC22A18 - - 04121 AI2A-5 amelogenesis imperfecta, hypomaturation type, IIA5 (AI2A-5) 615887 0 0 SLC24A4 - - 05212 AMDME ataxia, myoclonia, dysarthria[databases.lovd.nl]
Nasal Speech
  • speech Elbow flexion contracture Recurrent urinary tract infections Cyanosis Generalized seizures Underdeveloped nasal alae Hyporeflexia Respiratory distress Corneal perforation Absent proximal phalanx of thumb Triphalangeal thumb Abnormality of the[mendelian.co]

Treatment

  • At the moment, there is no standard treatment for amelogenesis imperfecta. Treatment depends on the type and severity of the condition.[healthline.com]
  • Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition.[varsome.com]

Epidemiology

  • Relevant External Links for SLC24A4 Genetic Association Database (GAD) SLC24A4 Human Genome Epidemiology (HuGE) Navigator SLC24A4 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SLC24A4 No data available for Genatlas for SLC24A4 Gene Genetic[genecards.org]
Sex distribution
Age distribution

Prevention

  • A mutation in any one of these genes can prevent it from making the correct protein, leading to enamel that is thin or soft.[healthline.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!