The teeth most often present include front teeth (central incisors), teeth normally located next to the incisors (canines), and/or, in some cases, one or more molars. [rarediseases.org]

Acronym ECTD10B Synonyms Ectodermal dysplasia anhidrotic Ectodermal dysplasia hypohidrotic autosomal recessive EDA HED Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational [uniprot.org]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Mutat. 32:70-72(2011) Cited for: VARIANTS ECTD10B HIS-89; GLN-358; GLN-396 INS; MET-403; PHE-408 AND GLN-420; Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [web.expasy.org]

The teeth that are present erupt from the gums later than usual and are frequently small and pointed. [ghr.nlm.nih.gov]

• Hemophilia A

  A F9 Hemophilia B FANCC Fanconi anemia of complementation group C HBB Sickle cell anemia WAS Wiskott Aldrich syndrome, X-linked thrombocytopenia HMOX1 heme oxygenase-1 deficiency Gene Phenotype in OMIM ABCB11 Progressive familial intrahepatic cholestasis [medgenomeclaria.com]

• Fever

  Peeling skin Intolerance to heat, and may be irritable in warm environments or may have unexplained fevers. More often, diagnosis is not made until the teeth do not erupt at the expected age or the teeth appear to be pointed when they do erupt. [nfed.org]

  Because affected infants and children are unable to sweat appropriately when exposed to warm environments, they can experience repeated episodes of heat intolerance and “unexplained” high fevers that may remain unexplained until the disorder is diagnosed [rarediseases.org]

  HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as ectodermal dysplasia, hypohidrotic;hed, ectodermal dysplasia, anhidrotic;eda Related symptoms: Autosomal recessive inheritance Depressed nasal bridge Nevus Frontal bossing Fever [mendelian.co]

  […] ectodermal dysplasia: A cross-sectional study. ( 30192988 ) Ngoc VTN...Nga VT 2018 20 A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia. ( 30276836 ) Hadji Rasouliha S...Leeb T 2018 21 A rare cause of fever [malacards.org]

• Hyperthermia

  Reduced sweating can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather. In some cases, hyperthermia can cause life-threatening health problems. [ghr.nlm.nih.gov]

  Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. [ncbi.nlm.nih.gov]

• Feeding Difficulties

  difficulties Milia Delayed speech and language development Fibroma Oxycephaly Specific learning disability Relative macrocephaly Freckling Neurofibromas Aplasia/Hypoplastia of the eccrine sweat glands Acute lymphoblastic leukemia Secundum atrial septal [mendelian.co]

• Weakness

  Milia Delayed speech and language development Fibroma Oxycephaly Specific learning disability Relative macrocephaly Freckling Neurofibromas Aplasia/Hypoplastia of the eccrine sweat glands Acute lymphoblastic leukemia Secundum atrial septal defect Muscle weakness [mendelian.co]

• Failure to Thrive

  […] to thrive Abnormality of the nail Abnormal facial shape Frontal bossing Slow-growing hair ... ... [familydiagnosis.com]

• Selective Tooth Agenesis

  Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by [ncbi.nlm.nih.gov]

• Abnormal Teeth

  Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands. [ghr.nlm.nih.gov]

• Sparse Hair

  […] of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. [malacards.org]

  Definition A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. [uniprot.org]

  Abnormal sparseness of hair (hypotrichosis) is also a primary characteristic of HED, and is due to incomplete formation and reduced numbers of hair follicles. [rarediseases.org]

  EDA is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. [sinobiological.com]

• Sparse Hair

  […] of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. [malacards.org]

  Definition A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. [uniprot.org]

  Abnormal sparseness of hair (hypotrichosis) is also a primary characteristic of HED, and is due to incomplete formation and reduced numbers of hair follicles. [rarediseases.org]

  EDA is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. [sinobiological.com]

• Sparse to No Body Hair

  Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. [rarediseases.info.nih.gov]

  Affected individuals tend to have sparse scalp and body hair ( hypotrichosis ). The hair is often light-colored, brittle, and slow-growing. [ghr.nlm.nih.gov]

• Frontal Bossing

  Symptoms of Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Anodontia Everted lower lip vermilion Everted upper lip vermilion Frontal bossing Microdontia [familydiagnosis.com]

  Many individuals with HED have additional, characteristic facial features, including a prominent forehead (frontal bossing); underdeveloped nostrils (hypoplastic alae nasi) and a low or sunken nasal bridge (so-called “saddle nose”); and underdeveloped [rarediseases.org]

  bossing Fever SOURCES: MONDO UMLS OMIM More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Low match NOONAN SYNDROME 7; NS7 Noonan syndrome is a developmental disorder characterized by reduced postnatal [mendelian.co]

  Frontal bossing MedGen UID: 67453 • Concept ID: C0221354 • Congenital Abnormality A skeletal deformity characterized by an unusually prominent forehead. Causes include acromegaly, Hurler syndrome, Silver-Russell syndrome, and thalassemia major. [ncbi.nlm.nih.gov]

• Thick Lips

  lips and oral mucosa) 23 102200 Pituitary adenoma 1, multiple types (PITA1) (Somatotrophinoma, familial isolated, FIS) (Isolated familian somatotropinosa; IFS) (Somatotrophinoma, familial) (Acromegaly due to pituitary adenoma 1) (PAGH1) (Pituitary adenoma [becomerich.lab.u-ryukyu.ac.jp]

  Some people with hypohidrotic ectodermal dysplasia have distinctive facial features, including a prominent forehead, thick lips, and a flattened bridge of the nose. [ghr.nlm.nih.gov]

Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures [rarediseases.info.nih.gov]

Management and treatment For most ARCA there is no specific drug treatment, except for coenzyme Q10 deficiency and abetalipoproteinemia. The documents contained in this web site are presented for information purposes only. [orpha.net]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

More on Genetics of Hypohidrotic ectodermal dysplasia » Treatments: Hypohidrotic ectodermal dysplasia Names and Terminology Other Names for This Condition Anhidrotic Ectodermal Dysplasia Christ-Siemens-Touraine Syndrome CST syndrome HED References Source [familydiagnosis.com]

They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care. [web.expasy.org]

Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. [orpha.net]

PMID: 19616858 Prognosis Fujikawa H, Farooq M, Fujimoto A, Ito M, Shimomura Y Br J Dermatol 2013 Mar;168(3):629-33. Epub 2012 Dec 13 doi: 10.1111/bjd.12018. [ncbi.nlm.nih.gov]

Etiology These diseases are caused by mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, alpha-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor [orpha.net]

The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. [ncbi.nlm.nih.gov]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Summary Epidemiology This group encompasses a large number of rare diseases, the most frequent in the Caucasian population being Friedreich ataxia (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and early onset cerebellar ataxia [orpha.net]

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

Artificial tears are used to prevent cornea damage for patients that do not produce enough tears. [rarediseases.info.nih.gov]

These ‘matches’ can also help prevent you from re-testing the same antibody from a different source. [ab-y-ss.com]

Mutations in the EDA, EDAR, or EDARADD gene prevent normal interactions between the ectoderm and the mesoderm, which impairs the normal development of skin, hair, nails, teeth, and sweat glands. [ghr.nlm.nih.gov]