BLS
MCID: BMF001
MIFTS: 42

Bamforth-Lazarus Syndrome (BLS) malady

Categories: Genetic diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Bamforth-Lazarus Syndrome

Aliases & Descriptions for Bamforth-Lazarus Syndrome:

Name: Bamforth-Lazarus Syndrome 54 12 24 56 66 13 14
Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate 24 66
Bamforth Syndrome 56 69
Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 54
Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate 12
Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome 56
Hypothyroidism-Cleft Palate Syndrome 56
Bls 66

Characteristics:

Orphanet epidemiological data:

56
bamforth-lazarus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

HPO:

32
bamforth-lazarus syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 241850
Disease Ontology 12 DOID:0050655
Orphanet 56 ORPHA1226
MESH via Orphanet 43 C537901
UMLS via Orphanet 70 C1855794
ICD10 via Orphanet 34 E03.1

Summaries for Bamforth-Lazarus Syndrome

UniProtKB/Swiss-Prot : 66 Bamforth-Lazarus syndrome: A disease characterized by thyroid agenesis, cleft palate and choanal atresia.

MalaCards based summary : Bamforth-Lazarus Syndrome, also known as athyroidal hypothyroidism with spiky hair and cleft palate, is related to burkitt lymphoma and bamforth syndrome, and has symptoms including intellectual disability, cleft palate and retrognathia. An important gene associated with Bamforth-Lazarus Syndrome is FOXE1 (Forkhead Box E1), and among its related pathways/superpathways are Pathways in cancer and Hedgehog Pathway. Affiliated tissues include thyroid, and related phenotypes are growth/size/body region and craniofacial

Wikipedia : 71 Bamforth–Lazarus syndrome is a genetic condition that results in thyroid dysgenesis. It is due to... more...

Description from OMIM: 241850

Related Diseases for Bamforth-Lazarus Syndrome

Diseases related to Bamforth-Lazarus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
id Related Disease Score Top Affiliating Genes
1 burkitt lymphoma 11.8
2 bamforth syndrome 11.2
3 bare lymphocyte syndrome, type ii, complementation group c 11.0
4 bare lymphocyte syndrome, type i 11.0
5 blind loop syndrome 11.0
6 bloom syndrome 10.9
7 mhc class ii deficiency 10.8
8 differentiated thyroid carcinoma 10.2 FOXE1 MSX1
9 intellectual developmental disorder with persistence of fetal hemoglobin 10.2 GLI2 TGFB3
10 intestinal pseudo-obstruction 10.2 GLI1 GLI2
11 hereditary lymphedema 10.2 FOXE1 MSX1 TGFB3
12 thyroiditis 10.2
13 chronic ethmoiditis 10.2 FOXE1 MSX1 TGFB3
14 mesocardia 10.1 FOXE1 TG
15 parietal lobe neoplasm 10.1 FOXE1 TG
16 fibrous meningioma 10.1 TG TPO
17 neuronopathy, distal hereditary motor, type viia 10.1 FOXE1 TG
18 neuhauser daly magnelli syndrome 10.1 TG TPO
19 premature closure of the arterial duct 10.1 TG TPO
20 background diabetic retinopathy 10.1 TG TPO
21 lymphoma 10.1
22 krabbe disease 10.1 TG TPO
23 tick paralysis 10.1 TG TPO
24 macular degeneration, age-related, 1 10.1 GLI2 MSX1 SHH
25 frontal sinusitis 10.1 TG TPO
26 anal squamous cell carcinoma 10.1 GLI1 SHH
27 conjunctival deposit 10.1 TG TPO
28 fibrous dysplasia 10.1 MSX1 SHH TGFB3
29 endemic goiter 10.1 TG TPO
30 pulmonary atresia with intact ventricular septum 10.0 FGFR2 FOXE1 SHH
31 polydactyly, postaxial, types a1 and b 10.0 GLI1 GLI2 SHH
32 extragonadal germ cell cancer 10.0 GLI1 GLI2 SHH
33 mixed eosinophil-basophil adenoma 10.0 TG TPO
34 breasts and/or nipples, aplasia or hypoplasia of, 2 10.0 GLI1 GLI2 SHH
35 alpha chain disease 10.0 GLI1 GLI2 SHH
36 commensal bacterial infectious disease 10.0 FOXE1 TG TPO
37 aflatoxins-related hepatocellular carcinoma 10.0 FOXE1 TG TPO
38 caudal regression syndrome 10.0 TG TPO
39 syndromic x-linked intellectual disability 14 10.0 FOXE1 SHH
40 orchitis 10.0 GLI1 GLI2 SHH
41 non-distal monosomy 10q 10.0 FOXE1 TG TPO
42 color blindness 10.0 TG TPO
43 cholesterol embolism 10.0 FOXE1 TG TPO
44 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 10.0 FGFR2 FOXE1 MSX1 TGFB3
45 lymphosarcoma 10.0
46 hypothyroidism, congenital, nongoitrous, 1 10.0 TG TPO
47 broad ligament malignant neoplasm 10.0 TG TPO
48 colorectal cancer, hereditary nonpolyposis, type 2 9.9 GLI2 SHH
49 taeniasis 9.9 DLX2 FGFR2 MSX1 TGFB3
50 leprosy 9.9

Graphical network of the top 20 diseases related to Bamforth-Lazarus Syndrome:



Diseases related to Bamforth-Lazarus Syndrome

Symptoms & Phenotypes for Bamforth-Lazarus Syndrome

Symptoms by clinical synopsis from OMIM:

241850

Clinical features from OMIM:

241850

Human phenotypes related to Bamforth-Lazarus Syndrome:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
2 cleft palate 56 32 Very frequent (99-80%) HP:0000175
3 retrognathia 56 32 Very frequent (99-80%) HP:0000278
4 abnormal hair quantity 56 32 Very frequent (99-80%) HP:0011362
5 polyhydramnios 56 32 Very frequent (99-80%) HP:0001561
6 choanal atresia 56 32 Very frequent (99-80%) HP:0000453
7 congenital hypothyroidism 56 32 Very frequent (99-80%) HP:0000851
8 thyroid agenesis 56 32 Very frequent (99-80%) HP:0008191
9 bifid epiglottis 32 HP:0010564

MGI Mouse Phenotypes related to Bamforth-Lazarus Syndrome:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.27 TG TGFB3 TPO DLX2 FGFR2 FOXE1
2 craniofacial MP:0005382 10.25 DLX2 FGFR2 FOXE1 GLI1 GLI2 HOXA2
3 behavior/neurological MP:0005386 10.21 HOXA2 HOXB2 MSX1 SHH TGFB3 DLX2
4 digestive/alimentary MP:0005381 10.19 DLX2 FGFR2 FOXE1 GLI1 GLI2 HOXA2
5 mortality/aging MP:0010768 10.14 TPO DLX2 FGFR2 FOXE1 GLI1 GLI2
6 embryo MP:0005380 10.13 FGFR2 GLI1 GLI2 HOXA2 HOXB2 MSX1
7 endocrine/exocrine gland MP:0005379 10.11 FGFR2 FOXE1 GLI1 GLI2 MSX1 SHH
8 homeostasis/metabolism MP:0005376 10.11 FGFR2 FOXE1 GLI2 MSX1 SHH TG
9 hearing/vestibular/ear MP:0005377 10.08 DLX2 FGFR2 GLI2 HOXA2 HOXB2 MSX1
10 nervous system MP:0003631 10.02 DLX2 FGFR2 GLI1 GLI2 HOXA2 HOXB2
11 limbs/digits/tail MP:0005371 9.98 FGFR2 GLI1 GLI2 MSX1 SHH TGFB3
12 muscle MP:0005369 9.91 DLX2 FGFR2 GLI2 HOXA2 HOXB2 MSX1
13 respiratory system MP:0005388 9.81 DLX2 FGFR2 GLI1 GLI2 HOXA2 HOXB2
14 normal MP:0002873 9.8 FGFR2 GLI1 GLI2 HOXA2 HOXB2 SHH
15 skeleton MP:0005390 9.61 TPO DLX2 FGFR2 GLI2 HOXA2 HOXB2
16 vision/eye MP:0005391 9.17 FGFR2 GLI2 HOXB2 MSX1 SHH TGFB3

Drugs & Therapeutics for Bamforth-Lazarus Syndrome

Search Clinical Trials , NIH Clinical Center for Bamforth-Lazarus Syndrome

Genetic Tests for Bamforth-Lazarus Syndrome

Genetic tests related to Bamforth-Lazarus Syndrome:

id Genetic test Affiliating Genes
1 Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate 24 FOXE1

Anatomical Context for Bamforth-Lazarus Syndrome

MalaCards organs/tissues related to Bamforth-Lazarus Syndrome:

39
Thyroid

Publications for Bamforth-Lazarus Syndrome

Articles related to Bamforth-Lazarus Syndrome:

id Title Authors Year
1
A Novel FOXE1 Mutation (R73S) in Bamforth-Lazarus Syndrome Causing Increased Thyroidal Gene Expression. ( 24219130 )
2014

Variations for Bamforth-Lazarus Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Bamforth-Lazarus Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 FOXE1 p.Ala65Val VAR_008857 rs104894110
2 FOXE1 p.Ser57Asn VAR_016882 rs28937575
3 FOXE1 p.Arg73Ser VAR_075978

ClinVar genetic disease variations for Bamforth-Lazarus Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FOXE1 NM_004473.3(FOXE1): c.194C> T (p.Ala65Val) single nucleotide variant Pathogenic rs104894110 GRCh37 Chromosome 9, 100616390: 100616390
2 FOXE1 NM_004473.3(FOXE1): c.170G> A (p.Ser57Asn) single nucleotide variant Pathogenic rs28937575 GRCh37 Chromosome 9, 100616366: 100616366

Expression for Bamforth-Lazarus Syndrome

Search GEO for disease gene expression data for Bamforth-Lazarus Syndrome.

Pathways for Bamforth-Lazarus Syndrome

GO Terms for Bamforth-Lazarus Syndrome

Cellular components related to Bamforth-Lazarus Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.26 FGFR2 SHH TGFB3 TPO
2 ciliary base GO:0097546 8.62 GLI1 GLI2

Biological processes related to Bamforth-Lazarus Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 72)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.98 DLX2 FGFR2 FOXE1 GLI2 HOXA2 MSX1
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.97 DLX2 FGFR2 GLI1 GLI2 HOXA2 MSX1
3 in utero embryonic development GO:0001701 9.94 FGFR2 GLI2 MSX1 TGFB3
4 smoothened signaling pathway GO:0007224 9.85 GLI1 GLI2 SHH
5 embryonic digit morphogenesis GO:0042733 9.85 GLI2 MSX1 SHH
6 cell fate commitment GO:0045165 9.84 FGFR2 HOXA2 SHH
7 pattern specification process GO:0007389 9.81 GLI2 HOXA2 SHH
8 lung development GO:0030324 9.8 FGFR2 GLI1 GLI2 SHH
9 positive regulation of cell division GO:0051781 9.79 FGFR2 SHH TGFB3
10 positive regulation of DNA replication GO:0045740 9.79 GLI1 GLI2 TGFB3
11 midbrain development GO:0030901 9.76 FGFR2 MSX1 SHH
12 palate development GO:0060021 9.76 FOXE1 MSX1 SHH TGFB3
13 embryonic organ development GO:0048568 9.75 FGFR2 SHH
14 pituitary gland development GO:0021983 9.75 GLI1 GLI2 MSX1
15 lung alveolus development GO:0048286 9.74 FGFR2 TGFB3
16 embryonic cranial skeleton morphogenesis GO:0048701 9.74 DLX2 FGFR2
17 digestive tract development GO:0048565 9.74 FGFR2 TGFB3
18 protein localization to nucleus GO:0034504 9.74 MSX1 SHH
19 embryonic forelimb morphogenesis GO:0035115 9.74 MSX1 SHH
20 face morphogenesis GO:0060325 9.74 MSX1 TGFB3
21 bone morphogenesis GO:0060349 9.74 FGFR2 MSX1
22 mammary gland development GO:0030879 9.73 GLI2 TGFB3
23 developmental growth GO:0048589 9.73 GLI2 SHH
24 branching morphogenesis of an epithelial tube GO:0048754 9.73 GLI2 SHH
25 embryonic hindlimb morphogenesis GO:0035116 9.73 MSX1 SHH
26 positive regulation of smoothened signaling pathway GO:0045880 9.73 GLI1 SHH
27 embryonic pattern specification GO:0009880 9.72 FGFR2 SHH
28 positive regulation of mesenchymal cell proliferation GO:0002053 9.72 FGFR2 SHH
29 hindbrain development GO:0030902 9.72 GLI2 SHH
30 spinal cord motor neuron differentiation GO:0021522 9.72 GLI2 SHH
31 middle ear morphogenesis GO:0042474 9.72 HOXA2 MSX1
32 hair follicle morphogenesis GO:0031069 9.72 FGFR2 FOXE1 SHH
33 embryonic digestive tract morphogenesis GO:0048557 9.71 FGFR2 SHH
34 anatomical structure formation involved in morphogenesis GO:0048646 9.71 GLI2 SHH
35 anatomical structure development GO:0048856 9.71 GLI2 SHH
36 digestive tract morphogenesis GO:0048546 9.71 GLI1 SHH
37 regulation of osteoblast differentiation GO:0045667 9.71 FGFR2 GLI1
38 thyroid gland development GO:0030878 9.71 FOXE1 SHH TG
39 odontogenesis of dentin-containing tooth GO:0042475 9.71 DLX2 GLI2 MSX1 SHH
40 dorsal/ventral neural tube patterning GO:0021904 9.7 GLI2 SHH
41 thyroid hormone generation GO:0006590 9.7 FOXE1 TPO
42 hormone biosynthetic process GO:0042446 9.7 TG TPO
43 branching involved in salivary gland morphogenesis GO:0060445 9.7 FGFR2 SHH
44 proximal/distal pattern formation GO:0009954 9.7 DLX2 GLI1 GLI2
45 positive regulation of T cell differentiation in thymus GO:0033089 9.69 GLI2 SHH
46 limb bud formation GO:0060174 9.69 FGFR2 SHH
47 lung-associated mesenchyme development GO:0060484 9.69 FGFR2 SHH
48 regulation of smoothened signaling pathway GO:0008589 9.69 FGFR2 GLI1 GLI2
49 lung lobe morphogenesis GO:0060463 9.68 FGFR2 SHH
50 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.67 FGFR2 SHH

Molecular functions related to Bamforth-Lazarus Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.55 DLX2 FOXE1 GLI2 HOXA2 HOXB2
2 DNA binding GO:0003677 9.5 DLX2 FOXE1 GLI1 GLI2 HOXA2 HOXB2
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.43 DLX2 GLI1 MSX1
4 sequence-specific DNA binding GO:0043565 9.1 DLX2 FOXE1 GLI2 HOXA2 HOXB2 MSX1

Sources for Bamforth-Lazarus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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