eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| bamforth syndrome | ||||
| Disease ID | 1755 |
|---|---|
| Disease | bamforth syndrome |
| Definition | A very rare syndrome of congenital hypothyroidism with characteristics of thyroid dysgenesis, cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Only 8 patients from 6 families have been reported to date. Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled skin, persistent jaundice and umbilical hernia. All newborns have a cleft palate and spiky hair. The syndrome is due to homozygous loss-of-function missense mutations located within the forkhead domain of the FOXE1 gene (9q22), encoding thyroid transcription factor 2 (TTF-2). TTF-2 is expressed in the thyroid gland (as well as elsewhere like the tongue, epiglottis and palate) and is thought to play a crucial role in thyroid morphogenesis. The disease is inherited autosomal recessively. |
| Synonym | athyroidal hypothyroidism with spiky hair and cleft palate syndrome bamforth lazarus syndrome bamforth lazarus syndrome (disorder) bamforth-lazarus syndrome hypothyroidism and cleft palate syndrome hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1855794 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:5) |
| Locus | (Waiting for update.) |
| Disease ID | 1755 |
|---|---|
| Disease | bamforth syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0000175 | Palatoschisis HP:0008191 | Thyroid agenesis HP:0001561 | Hydramnios HP:0010564 | Bifid epiglottis HP:0000453 | Blockage of the rear opening of the nasal cavity |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1755 |
|---|---|
| Disease | bamforth syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894110 | NA | 2304 | FOXE1 | umls:C1855794 | CLINVAR | NA | 0.560814326 | NA | FOXE1;PTCSC2 | 9 | 97854108 | C | T |
| rs28937575 | 12165566 | 2304 | FOXE1 | umls:C1855794 | UNIPROT | A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. | 0.560814326 | 2002 | FOXE1;PTCSC2 | 9 | 97854084 | G | A |
| rs28937575 | NA | 2304 | FOXE1 | umls:C1855794 | CLINVAR | NA | 0.560814326 | NA | FOXE1;PTCSC2 | 9 | 97854084 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010564 | Bifid epiglottis | MP:0010371 | abnormal epiglottis morphology | any structural anomaly of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink |
| HP:0000453 | Choanal atresia | MP:0009510 | cecal atresia | congenital blockage or absence of the lumen of the cecum |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000453 | Choanal atresia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0010564 | Bifid epiglottis | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0001561 | Polyhydramnios | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000175 | Cleft palate | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0008191 | Thyroid agenesis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1755 |
|---|---|
| Disease | bamforth syndrome |
| Case | (Waiting for update.) |