BLS
MCID: HYP791
MIFTS: 44

Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate (BLS)

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

Aliases & Classifications for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and...

MalaCards integrated aliases for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate:

Name: Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 56
Bamforth-Lazarus Syndrome 56 12 58 73 36 13 15 39
Bamforth Syndrome 58 71
Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate 12
Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome 58
Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate 73
Hypothyroidism-Cleft Palate Syndrome 58
Bls 73

Characteristics:

Orphanet epidemiological data:

58
bamforth-lazarus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050655
OMIM 56 241850
KEGG 36 H01040
MESH via Orphanet 44 C537901
ICD10 via Orphanet 33 E03.1
UMLS via Orphanet 72 C1855794
Orphanet 58 ORPHA1226
UMLS 71 C1855794

Summaries for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and...

KEGG : 36 Bamforth-Lazarus syndrome is congenital hypothyroidism associated with choanal atresia, bifid epiglottis, and abnormal hair. It has been suggested that mutations in FOXE1 are associated with Bamforth-Lazarus syndrome. FOXE1 is a member of the forkhead/winged-helix family and functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis.

MalaCards based summary : Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate, also known as bamforth-lazarus syndrome, is related to congenital hypothyroidism and athyreosis. An important gene associated with Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate is FOXE1 (Forkhead Box E1), and among its related pathways/superpathways is Hypothetical Craniofacial Development Pathway. Affiliated tissues include thyroid, bone and t cells, and related phenotypes are intellectual disability and polyhydramnios

Disease Ontology : 12 A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has material basis in homozygous mutation in the FKHL15 gene on chromosome 9q22.

UniProtKB/Swiss-Prot : 73 Bamforth-Lazarus syndrome: A disease characterized by thyroid agenesis, cleft palate and choanal atresia.

Wikipedia : 74 Bamforth-Lazarus syndrome is a genetic condition that results in thyroid dysgenesis. It is due to... more...

More information from OMIM: 241850

Related Diseases for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and...

Diseases related to Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 184)
# Related Disease Score Top Affiliating Genes
1 congenital hypothyroidism 32.6 SLC26A4 IYD FOXE1 DUOXA2
2 athyreosis 30.8 SLC26A4 FOXE1
3 choanal atresia, posterior 30.8 TBX22 FOXE1
4 hypothyroidism, congenital, nongoitrous, 2 30.7 SLC26A4 FOXE1
5 hypothyroidism 30.4 SLC26A4 IYD FOXE1 DUOXA2
6 cleft palate, isolated 28.5 TGFB3 TBX22 MSX1 IRF6 HOXA2 FOXE1
7 burkitt lymphoma 12.5
8 bare lymphocyte syndrome, type i 12.3
9 bamforth syndrome 12.3
10 bare lymphocyte syndrome, type ii 12.3
11 bloom syndrome 11.5
12 blind loop syndrome 11.4
13 cardiac arrest 10.5
14 leprosy 3 10.5
15 hansen's disease 10.5
16 lymphoma 10.4
17 acrocallosal syndrome 10.4
18 lymphocytic leukemia 10.3
19 lymphosarcoma 10.3
20 diabetes mellitus, neonatal, with congenital hypothyroidism 10.3 IYD FOXE1
21 familial thyroid dyshormonogenesis 10.3 IYD DUOXA2
22 diffuse large b-cell lymphoma 10.3
23 autoimmune disease 10.2
24 leukemia, acute lymphoblastic 10.2
25 b-cell lymphoma 10.2
26 bladder cancer 10.2
27 ventricular fibrillation, paroxysmal familial, 1 10.2
28 hemorrhoid 10.2
29 hypothyroidism, congenital, nongoitrous, 1 10.2 IYD FOXE1 DUOXA2
30 leukemia, acute lymphoblastic 3 10.1
31 lepromatous leprosy 10.1
32 spinal cord injury 10.1
33 dyshormonogenic goiter 10.1 SLC26A4 DUOXA2
34 breasts and/or nipples, aplasia or hypoplasia of, 1 10.1
35 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 10.1
36 porencephaly 10.1
37 cleft palate with or without ankyloglossia, x-linked 10.1 TBX22 MSX1
38 leukemia, acute myeloid 10.1
39 human immunodeficiency virus type 1 10.1
40 membranous nephropathy 10.1
41 leukemia 10.1
42 glomerulonephritis 10.1
43 endophthalmitis 10.1
44 myeloid leukemia 10.1
45 amyloidosis 10.1
46 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.1
47 hemifacial microsomia 10.0 MSX1 HOXA2
48 cleft lip and alveolus 10.0 MSX1 IRF6
49 thyroid malformation 10.0 SLC26A4 IYD FOXE1
50 leukemia, chronic lymphocytic 10.0

Graphical network of the top 20 diseases related to Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate:



Diseases related to Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate

Symptoms & Phenotypes for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and...

Human phenotypes related to Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
3 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
4 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
5 abnormal hair quantity 58 31 hallmark (90%) Very frequent (99-80%) HP:0011362
6 choanal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000453
7 congenital hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000851
8 thyroid agenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008191
9 bifid epiglottis 31 HP:0010564

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
cleft palate
choanal atresia
bifid epiglottis
spiky hair

Misc:
polyhydramnios pregnancy

Endo:
athyroidal hypothyroidism

Clinical features from OMIM:

241850

GenomeRNAi Phenotypes related to Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Aire reporter expression GR00304-A 8.8 ALX4 FOXE1 HOXC13

MGI Mouse Phenotypes related to Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.18 ALX4 ARHGAP29 DUOXA2 FOXE1 HOXA2 HOXC13
2 digestive/alimentary MP:0005381 10.16 ALX4 ARHGAP29 FOXE1 HOXA2 HOXC13 IRF6
3 growth/size/body region MP:0005378 10.14 ALX4 ARHGAP29 DUOXA2 FOXE1 FOXN1 HOXA2
4 embryo MP:0005380 9.98 ALX4 ARHGAP29 FOXN1 HOXA2 IRF6 MSX1
5 hearing/vestibular/ear MP:0005377 9.91 ARHGAP29 DUOXA2 FOXN1 HOXA2 IRF6 MSX1
6 mortality/aging MP:0010768 9.9 ALX4 ARHGAP29 FOXE1 FOXN1 HOXA2 HOXC13
7 integument MP:0010771 9.87 ALX4 DUOXA2 FOXE1 FOXN1 HOXC13 IRF6
8 limbs/digits/tail MP:0005371 9.73 ALX4 DUOXA2 HOXC13 IRF6 MSX1 TGFB3
9 normal MP:0002873 9.5 ALX4 DUOXA2 FOXN1 HOXA2 MSX1 TBX22
10 skeleton MP:0005390 9.32 ALX4 DUOXA2 FOXN1 HOXA2 HOXC13 IRF6

Drugs & Therapeutics for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and...

Search Clinical Trials , NIH Clinical Center for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate

Genetic Tests for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and...

Anatomical Context for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and...

MalaCards organs/tissues related to Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate:

40
Thyroid, Bone, T Cells, B Cells, Prostate, Myeloid, Breast

Publications for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and...

Articles related to Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate:

# Title Authors PMID Year
1
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. 56 6
16882747 2006
2
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. 56 6
12165566 2002
3
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. 56 6
9697705 1998
4
Congenital hypothyroidism, spiky hair, and cleft palate. 56 6
2918525 1989
5
MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1. 61 6
21177256 2011
6
Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. 56
8320710 1993
7
A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression. 61
24219130 2014
8
Forkhead transcription factor foxe1 regulates chondrogenesis in zebrafish. 61
19488987 2009
9
Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis. 61
15367491 2004

Variations for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and...

ClinVar genetic disease variations for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXE1 NM_004473.4(FOXE1):c.194C>T (p.Ala65Val)SNV Pathogenic 6986 rs104894110 9:100616390-100616390 9:97854108-97854108
2 FOXE1 NM_004473.4(FOXE1):c.170G>A (p.Ser57Asn)SNV Pathogenic 6987 rs28937575 9:100616366-100616366 9:97854084-97854084
3 FOXE1 NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)SNV Uncertain significance 208453 rs538912281 9:100616939-100616939 9:97854657-97854657
4 FOXE1 NM_004473.4(FOXE1):c.505_507GCC[7] (p.Ala176_Ala179del)short repeat Likely benign 522197 rs71369530 9:100616701-100616712 9:97854419-97854430
5 FOXE1 NM_004473.4(FOXE1):c.285A>G (p.Lys95=)SNV Benign/Likely benign 435238 rs139551528 9:100616481-100616481 9:97854199-97854199
6 FOXE1 NM_004473.4(FOXE1):c.512_513insTGCCGCAGC (p.Ala177_Ala179dup)insertion Benign 522287 rs755194188 9:100616706-100616707 9:97854424-97854425
7 FOXE1 NM_004473.4(FOXE1):c.387T>C (p.Leu129=)SNV Benign 95096 rs3021523 9:100616583-100616583 9:97854301-97854301
8 FOXE1 NM_004473.4(FOXE1):c.505_507GCC[9] (p.Ala178_Ala179del)short repeat Benign 95097 rs71369530 9:100616701-100616706 9:97854419-97854424
9 FOXE1 NM_004473.4(FOXE1):c.825C>T (p.Ser275=)SNV Benign 95098 rs3021526 9:100617021-100617021 9:97854739-97854739

UniProtKB/Swiss-Prot genetic disease variations for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate:

73
# 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

Expression for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and...

Search GEO for disease gene expression data for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate.

Pathways for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and...

Pathways related to Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.7 TGFB3 IRF6 ARHGAP29

GO Terms for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and...

Cellular components related to Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.23 TBX22 MSX1 IRF6 HOXC13 HOXA2 FOXN1

Biological processes related to Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.87 TBX22 SHTN1 MSX1 HOXC13 HOXA2 FOXN1
2 regulation of transcription, DNA-templated GO:0006355 9.76 TBX22 MSX1 IRF6 HOXC13 HOXA2 FOXN1
3 anterior/posterior pattern specification GO:0009952 9.56 MSX1 HOXC13 HOXA2 ALX4
4 odontogenesis GO:0042476 9.54 TGFB3 MSX1
5 hair follicle development GO:0001942 9.54 HOXC13 FOXN1 ALX4
6 digestive tract development GO:0048565 9.52 TGFB3 ALX4
7 embryonic forelimb morphogenesis GO:0035115 9.51 MSX1 ALX4
8 face morphogenesis GO:0060325 9.49 TGFB3 MSX1
9 embryonic hindlimb morphogenesis GO:0035116 9.48 MSX1 ALX4
10 middle ear morphogenesis GO:0042474 9.46 MSX1 HOXA2
11 thyroid hormone generation GO:0006590 9.43 IYD FOXE1
12 nail development GO:0035878 9.4 HOXC13 FOXN1
13 roof of mouth development GO:0060021 9.26 MSX1 IRF6 FOXE1 ALX4
14 positive regulation of transcription by RNA polymerase II GO:0045944 9.23 TGFB3 TBX22 MSX1 IRF6 HOXC13 HOXA2

Molecular functions related to Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.92 TBX22 MSX1 IRF6 HOXC13 HOXA2 FOXN1
2 DNA-binding transcription factor activity GO:0003700 9.73 TBX22 IRF6 HOXA2 FOXN1 FOXE1 ALX4
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.63 TBX22 MSX1 IRF6 HOXC13 FOXN1 ALX4
4 sequence-specific DNA binding GO:0043565 9.5 MSX1 IRF6 HOXC13 HOXA2 FOXN1 FOXE1
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.23 TBX22 MSX1 IRF6 HOXC13 HOXA2 FOXN1

Sources for Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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