BLS
MCID: HYP791
MIFTS: 46

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 57
Bamforth-Lazarus Syndrome 57 12 59 74 37 13 15 40
Bamforth Syndrome 59 72
Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate 12
Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome 59
Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate 74
Hypothyroidism-Cleft Palate Syndrome 59
Bls 74

Characteristics:

Orphanet epidemiological data:

59
bamforth-lazarus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050655
OMIM 57 241850
KEGG 37 H01040
MESH via Orphanet 45 C537901
ICD10 via Orphanet 34 E03.1
UMLS via Orphanet 73 C1855794
Orphanet 59 ORPHA1226
UMLS 72 C1855794

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

KEGG : 37
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 choanal atresia, posterior. 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 are Pathways in cancer and Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. Affiliated tissues include thyroid, and related phenotypes are intellectual disability and cleft palate

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 : 74 Bamforth-Lazarus syndrome: A disease characterized by thyroid agenesis, cleft palate and choanal atresia.

Wikipedia : 75 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 208)
# Related Disease Score Top Affiliating Genes
1 congenital hypothyroidism 32.9 TPO TG FOXE1
2 choanal atresia, posterior 31.3 FOXE1 FGFR2
3 athyreosis 31.1 TG FOXE1
4 hypothyroidism, congenital, nongoitrous, 2 31.0 TG FOXE1
5 hypothyroidism 30.6 TPO TG FOXE1
6 cleft palate, isolated 30.4 TGFB3 MSX1 FOXE1 FGFR2
7 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.7 TPO TG
8 burkitt lymphoma 12.5
9 bare lymphocyte syndrome, type i 12.3
10 bare lymphocyte syndrome, type ii 12.3
11 bamforth syndrome 12.2
12 bloom syndrome 11.5
13 blind loop syndrome 11.4
14 blepharitis 11.2
15 isolated cleft lip 10.6 MSX1 FOXE1
16 cardiac arrest 10.5
17 leprosy 3 10.5
18 hansen's disease 10.5
19 nodular medulloblastoma 10.4 GLI2 GLI1
20 lagophthalmos 10.4 HOXA2 FGFR2
21 lymphoma 10.4
22 tooth size 10.4 SHH MSX1
23 acrocallosal syndrome 10.4
24 midline interhemispheric variant of holoprosencephaly 10.3 SHH GLI2
25 septopreoptic holoprosencephaly 10.3 SHH GLI2
26 lymphocytic leukemia 10.3
27 lymphosarcoma 10.3
28 alobar holoprosencephaly 10.3 SHH GLI2
29 syngnathia 10.3 MSX1 DLX2
30 lobar holoprosencephaly 10.3 SHH GLI2
31 acute thyroiditis 10.3 TG FOXE1
32 diffuse large b-cell lymphoma 10.3
33 microform holoprosencephaly 10.3 SHH GLI2
34 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.3 SHH MSX1
35 semilobar holoprosencephaly 10.2 SHH GLI2
36 miles-carpenter syndrome 10.2 SHH FOXE1
37 autoimmune disease 10.2
38 leukemia, acute lymphoblastic 10.2
39 b-cell lymphoma 10.2
40 greig cephalopolysyndactyly syndrome 10.2 SHH GLI2
41 gastric squamous cell carcinoma 10.2 SHH GLI1
42 subacute lymphocytic thyroiditis 10.2 TPO TG
43 familial thyroid dyshormonogenesis 10.2 TPO TG
44 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.2 TPO TG
45 hemorrhoid 10.2
46 endemic goiter 10.2 TPO TG
47 plummer's disease 10.2 TPO TG
48 nontoxic goiter 10.2 TPO TG
49 premature menopause 10.1 TPO TG
50 bladder cancer 10.1

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:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
3 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
4 abnormal hair quantity 59 32 hallmark (90%) Very frequent (99-80%) HP:0011362
5 choanal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000453
6 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
7 congenital hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000851
8 thyroid agenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008191
9 bifid epiglottis 32 HP:0010564

Symptoms via clinical synopsis from OMIM:

57
H E E N T:
cleft palate
choanal atresia
bifid epiglottis
spiky hair

Misc:
polyhydramnios pregnancy

Endo:
athyroidal hypothyroidism

Clinical features from OMIM:

241850

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

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.29 DLX2 FGFR2 FOXE1 GLI1 GLI2 HOXA2
2 growth/size/body region MP:0005378 10.27 DLX2 FGFR2 FOXE1 GLI1 GLI2 HOXA2
3 digestive/alimentary MP:0005381 10.24 DLX2 FGFR2 FOXE1 GLI1 GLI2 HOXA2
4 behavior/neurological MP:0005386 10.21 DLX2 FGFR2 GLI1 GLI2 HOXA2 HOXB2
5 mortality/aging MP:0010768 10.14 DLX2 FGFR2 FOXE1 GLI1 GLI2 HOXA2
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 DLX2 FGFR2 FOXE1 GLI2 MSX1 SHH
9 hearing/vestibular/ear MP:0005377 10.08 DLX2 FGFR2 GLI2 HOXA2 HOXB2 MSX1
10 limbs/digits/tail MP:0005371 10.03 FGFR2 GLI1 GLI2 MSX1 SHH TG
11 nervous system MP:0003631 10.02 DLX2 FGFR2 GLI1 GLI2 HOXA2 HOXB2
12 muscle MP:0005369 9.91 DLX2 FGFR2 GLI2 HOXA2 HOXB2 MSX1
13 normal MP:0002873 9.86 FGFR2 GLI1 GLI2 HOXA2 HOXB2 MSX1
14 respiratory system MP:0005388 9.81 DLX2 FGFR2 GLI1 GLI2 HOXA2 HOXB2
15 skeleton MP:0005390 9.65 DLX2 FGFR2 GLI2 HOXA2 HOXB2 MSX1
16 vision/eye MP:0005391 9.17 FGFR2 GLI2 HOXB2 MSX1 SHH TGFB3

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:

41
Thyroid

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. 8 71
16882747 2006
2
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. 8 71
12165566 2002
3
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. 8 71
9697705 1998
4
Congenital hypothyroidism, spiky hair, and cleft palate. 8 71
2918525 1989
5
MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1. 38 71
21177256 2011
6
Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. 8
8320710 1993
7
A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression. 38
24219130 2014
8
Forkhead transcription factor foxe1 regulates chondrogenesis in zebrafish. 38
19488987 2009
9
Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FOXE1 NM_004473.4(FOXE1): c.194C> T (p.Ala65Val) single nucleotide variant Pathogenic rs104894110 9:100616390-100616390 9:97854108-97854108
2 FOXE1 NM_004473.4(FOXE1): c.170G> A (p.Ser57Asn) single nucleotide variant Pathogenic rs28937575 9:100616366-100616366 9:97854084-97854084
3 FOXE1 NM_004473.4(FOXE1): c.285A> G (p.Lys95=) single nucleotide variant Likely benign rs139551528 9:100616481-100616481 9:97854199-97854199
4 FOXE1 NM_004473.4(FOXE1): c.505_507GCC[7] (p.Ala176_Ala179del) short repeat Likely benign rs71369530 9:100616722-100616733 9:97854440-97854451
5 FOXE1 NM_004473.4(FOXE1): c.512_513insTGCCGCAGC (p.Ala177_Ala179dup) insertion Benign rs755194188 9:100616708-100616709 9:97854426-97854427
6 FOXE1 NM_004473.4(FOXE1): c.387T> C (p.Leu129=) single nucleotide variant Benign rs3021523 9:100616583-100616583 9:97854301-97854301
7 FOXE1 NM_004473.4(FOXE1): c.505_507GCC[9] (p.Ala178_Ala179del) short repeat Benign rs71369530 9:100616728-100616733 9:97854446-97854451
8 FOXE1 NM_004473.4(FOXE1): c.825C> T (p.Ser275=) single nucleotide variant Benign rs3021526 9:100617021-100617021 9:97854739-97854739

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

74
# 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 12.44 TGFB3 SHH GLI2 GLI1 FGFR2
2
Show member pathways
12.07 SHH GLI2 GLI1
3 11.61 TGFB3 SHH MSX1 GLI2 GLI1
4 11.11 TPO TGFB3 SHH
5 10.92 SHH GLI2 GLI1
6
Show member pathways
10.91 SHH GLI2
7 10.4 SHH MSX1 GLI2 GLI1
8 10.15 TPO TG

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 cell surface GO:0009986 9.26 TPO TGFB3 SHH FGFR2
2 ciliary base GO:0097546 8.62 GLI2 GLI1

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

(show top 50) (show all 78)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.98 SHH MSX1 HOXA2 GLI2 FOXE1 FGFR2
2 in utero embryonic development GO:0001701 9.93 TGFB3 MSX1 GLI2 FGFR2
3 negative regulation of apoptotic process GO:0043066 9.92 SHH MSX1 GLI2
4 smoothened signaling pathway GO:0007224 9.85 SHH GLI2 GLI1
5 roof of mouth development GO:0060021 9.85 SHH MSX1 FOXE1
6 pattern specification process GO:0007389 9.85 SHH HOXA2 GLI2
7 cell fate commitment GO:0045165 9.84 SHH HOXA2 FGFR2
8 embryonic digit morphogenesis GO:0042733 9.81 SHH MSX1 GLI2
9 positive regulation of cell division GO:0051781 9.78 TGFB3 SHH FGFR2
10 lung development GO:0030324 9.78 SHH GLI2 GLI1 FGFR2
11 positive regulation of Wnt signaling pathway GO:0030177 9.75 SHH FGFR2
12 positive regulation of cardiac muscle cell proliferation GO:0060045 9.75 GLI1 FGFR2
13 epithelial to mesenchymal transition GO:0001837 9.75 MSX1 FGFR2
14 lung alveolus development GO:0048286 9.75 TGFB3 FGFR2
15 mammary gland development GO:0030879 9.75 TGFB3 GLI2
16 embryonic cranial skeleton morphogenesis GO:0048701 9.75 FGFR2 DLX2
17 protein localization to nucleus GO:0034504 9.75 SHH MSX1
18 midbrain development GO:0030901 9.75 SHH MSX1 FGFR2
19 digestive tract development GO:0048565 9.74 TGFB3 FGFR2
20 bone morphogenesis GO:0060349 9.74 MSX1 FGFR2
21 embryonic organ development GO:0048568 9.74 SHH FGFR2
22 embryonic forelimb morphogenesis GO:0035115 9.74 SHH MSX1
23 positive regulation of smoothened signaling pathway GO:0045880 9.74 SHH GLI1
24 face morphogenesis GO:0060325 9.74 TGFB3 MSX1
25 developmental growth GO:0048589 9.73 SHH GLI2
26 positive regulation of DNA replication GO:0045740 9.73 GLI2 GLI1
27 embryonic hindlimb morphogenesis GO:0035116 9.73 SHH MSX1
28 branching morphogenesis of an epithelial tube GO:0048754 9.73 SHH GLI2
29 positive regulation of mesenchymal cell proliferation GO:0002053 9.73 SHH FGFR2
30 anatomical structure development GO:0048856 9.73 SHH GLI2
31 pituitary gland development GO:0021983 9.73 MSX1 GLI2 GLI1
32 anatomical structure formation involved in morphogenesis GO:0048646 9.72 SHH GLI2
33 spinal cord motor neuron differentiation GO:0021522 9.72 SHH GLI2
34 hindbrain development GO:0030902 9.72 SHH GLI2
35 embryonic pattern specification GO:0009880 9.72 SHH FGFR2
36 anterior/posterior pattern specification GO:0009952 9.72 SHH MSX1 HOXB2 HOXA2 GLI2
37 middle ear morphogenesis GO:0042474 9.71 MSX1 HOXA2
38 embryonic digestive tract morphogenesis GO:0048557 9.71 SHH FGFR2
39 prostate gland development GO:0030850 9.71 SHH GLI1
40 digestive tract morphogenesis GO:0048546 9.71 SHH GLI1
41 thyroid gland development GO:0030878 9.71 TG SHH FOXE1
42 odontogenesis of dentin-containing tooth GO:0042475 9.71 SHH MSX1 GLI2 DLX2
43 regulation of osteoblast differentiation GO:0045667 9.7 GLI1 FGFR2
44 dorsal/ventral neural tube patterning GO:0021904 9.7 SHH GLI2
45 thyroid hormone generation GO:0006590 9.7 TPO FOXE1
46 hormone biosynthetic process GO:0042446 9.7 TPO TG
47 hair follicle morphogenesis GO:0031069 9.7 SHH FOXE1 FGFR2
48 branching involved in salivary gland morphogenesis GO:0060445 9.69 SHH FGFR2
49 limb bud formation GO:0060174 9.69 SHH FGFR2
50 positive regulation of T cell differentiation in thymus GO:0033089 9.69 SHH GLI2

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 9.7 MSX1 HOXB2 HOXA2 GLI2 GLI1 FOXE1
2 DNA-binding transcription factor activity GO:0003700 9.65 HOXB2 HOXA2 GLI2 FOXE1 DLX2
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.62 HOXB2 HOXA2 GLI2 GLI1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.54 MSX1 HOXB2 DLX2
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 MSX1 HOXB2 HOXA2 GLI2 GLI1 FOXE1
6 sequence-specific DNA binding GO:0043565 9.1 MSX1 HOXB2 HOXA2 GLI2 FOXE1 DLX2

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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