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]

• 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]

• Recurrent Respiratory Infection

  Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. [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

  Carious teeth MedGen UID: 8288 •Concept ID: C0011334 • Disease or Syndrome Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. [ncbi.nlm.nih.gov]

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

• 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

  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]

• 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]

• Short Nose

  Arachnodactyly Osteolysis Fragile skin Hyperextensible skin Delayed speech and language development Pectus excavatum Hearing impairment Mandibular prognathia High forehead Craniosynostosis Thin vermilion border Flat face Short nose Short neck Talipes [mendelian.co]

• Delayed Speech and Language Development

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

• 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]

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]