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]

• Diarrhea

  autosomal recessive, type 66 (DFNB-66) 610212 0 0 DCDC2 - - 00088 DIAR-1 diarrhea, type 1, chloride, secretory, congenital (Finnish type, DIAR-1) 214700 69 2 SLC26A3 - - 00072 DTD dysplasia, diastrophic (DTD) 222600 0 0 SLC26A2 - - 00546 DYT-9 dystonia [databases.lovd.nl]

  Leukocytosis Increased antibody level in blood Tibial bowing Cellulitis Hydrops fetalis Behavioral abnormality Thoracic dysplasia Decreased small intestinal mucosa lactase activity Lactose intolerance Fructose intolerance Atherosclerosis Metabolic acidosis Diarrhea [mendelian.co]

  Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, SOX % 99% Microphthalmia syndromic 3, Optic nerve hypoplasia and abnormalities of the central nervous system, SP % 100% Osteogenesis imperfecta type XII,613849 30 SPINK % 99% Atopy, Netherton syndrome, SPINT % 60% Diarrhea [docplayer.net]

  2,615777 APC Desmoid disease,hereditary,135290 ENPP1 Diabetes mellitus, non-insulin-dependent, susceptibility to,125853 INSR Diabetes mellitus,insulin-resistant,with acanthosis nigricans,610549 FOXP3 Diabetes mellitus,type I,susceptibility to,222100 SPINT2 Diarrhea [gsdseq.ir]

• Dental Caries

  […] erosion, dental caries, periodontal disease, and oral infections. [mendelian.co]

• Skin Ulcer

  ulcer Lymphedema Sinusitis Abnormality of retinal pigmentation Asthma Hepatitis Recurrent pneumonia Inflammatory abnormality of the skin Low posterior hairline Convex nasal ridge Eczema Hirsutism Palmoplantar keratoderma Dry skin Papule Genu valgum Pruritus [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]

• Withdrawn

  Teenagers in particular may become withdrawn due to the pressure to fit in among their peers. At the moment, there is no standard treatment for amelogenesis imperfecta. Treatment depends on the type and severity of the condition. [healthline.com]

• Delayed Speech and Language Development

  speech and language development and Ophthalmoplegia, related diseases and genetic alterations [mendelian.co]

More Symptoms of Amelogenesis imperfecta, hypomaturation type IIA5 » • • • Back to: « Amelogenesis imperfecta Diagnosis See also related information on diagnosis: Diagnosis of Amelogenesis imperfecta Treatments See also the following treatment articles [familydiagnosis.com]

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]

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]

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]