MCID: HYP791
MIFTS: 44

Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate

Categories: Genetic diseases, Endocrine diseases, Fetal 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 75 37 13 15 40
Bamforth Syndrome 59 73
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 75
Hypothyroidism-Cleft Palate Syndrome 59
Bls 75

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:

OMIM 57 241850
Disease Ontology 12 DOID:0050655
Orphanet 59 ORPHA1226
MESH via Orphanet 45 C537901
UMLS via Orphanet 74 C1855794
ICD10 via Orphanet 34 E03.1
KEGG 37 H01040
UMLS 73 C1855794

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

UniProtKB/Swiss-Prot : 75 Bamforth-Lazarus syndrome: A disease characterized by thyroid agenesis, cleft palate and choanal atresia.

MalaCards based summary : Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate, also known as bamforth-lazarus syndrome, is related to alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity and burkitt lymphoma. 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

Description 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 91)
# Related Disease Score Top Affiliating Genes
1 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.2 TG TPO
2 burkitt lymphoma 12.1
3 bamforth syndrome 12.0
4 bare lymphocyte syndrome, type ii 11.9
5 bare lymphocyte syndrome, type i 11.7
6 bloom syndrome 11.2
7 blind loop syndrome 11.1
8 isolated cleft lip 10.8 FOXE1 MSX1
9 nodular medulloblastoma 10.6 GLI1 GLI2
10 choanal atresia, posterior 10.5 FGFR2 FOXE1
11 tooth size 10.5 MSX1 SHH
12 septopreoptic holoprosencephaly 10.4 GLI2 SHH
13 midline interhemispheric variant of holoprosencephaly 10.4 GLI2 SHH
14 alobar holoprosencephaly 10.4 GLI2 SHH
15 athyreosis 10.4 FOXE1 TG
16 lobar holoprosencephaly 10.4 GLI2 SHH
17 acute thyroiditis 10.4 FOXE1 TG
18 hypothyroidism, congenital, nongoitrous, 2 10.4 FOXE1 TG
19 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.3 MSX1 SHH
20 microform holoprosencephaly 10.3 GLI2 SHH
21 semilobar holoprosencephaly 10.3 GLI2 SHH
22 lymphoma 10.3
23 gastric squamous cell carcinoma 10.3 GLI1 SHH
24 familial thyroid dyshormonogenesis 10.3 TG TPO
25 subacute lymphocytic thyroiditis 10.3 TG TPO
26 neonatal hypothyroidism 10.3 TG TPO
27 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.3 TG TPO
28 miles-carpenter syndrome 10.3 FOXE1 SHH
29 endemic goiter 10.2 TG TPO
30 disuse amblyopia 10.2 GLI2 SHH
31 plummer's disease 10.2 TG TPO
32 thyroiditis 10.2
33 premature menopause 10.2 TG TPO
34 graves disease 1 10.2 TG TPO
35 hypothyroidism, congenital, nongoitrous, 4 10.2 TG TPO
36 nontoxic goiter 10.2 TG TPO
37 gastric tubular adenocarcinoma 10.2 GLI1 SHH
38 myxedema 10.2 TG TPO
39 toxic diffuse goiter 10.2 TG TPO
40 subacute thyroiditis 10.2 TG TPO
41 pernicious anemia 10.2 TG TPO
42 split-hand/foot malformation 3 10.2 DLX2 GLI1
43 agnathia-otocephaly complex 10.1 GLI2 MSX1 SHH
44 keratocystic odontogenic tumor 10.1 GLI1 SHH
45 physical disorder 10.1 MSX1 SHH TGFB3
46 lymphosarcoma 10.1
47 central nervous system tuberculosis 10.0 GLI1 SHH
48 hypertropia 10.0 FGFR2 TG
49 adult medulloblastoma 10.0 GLI1 SHH
50 pallister-hall syndrome 10.0 GLI1 GLI2 SHH

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...

Symptoms via clinical synopsis from OMIM:

57
HEENT:
cleft palate
choanal atresia
bifid epiglottis
spiky hair

Misc:
polyhydramnios pregnancy

Endo:
athyroidal hypothyroidism


Clinical features from OMIM:

241850

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 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
6 choanal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000453
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

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 behavior/neurological MP:0005386 10.21 DLX2 FGFR2 GLI1 GLI2 HOXA2 HOXB2
4 digestive/alimentary MP:0005381 10.19 DLX2 FGFR2 FOXE1 GLI1 GLI2 HOXA2
5 mortality/aging MP:0010768 10.14 HOXA2 HOXB2 MSX1 SHH TGFB3 TPO
6 embryo MP:0005380 10.13 FGFR2 GLI1 GLI2 HOXA2 HOXB2 MSX1
7 endocrine/exocrine gland MP:0005379 10.11 TG TPO FGFR2 FOXE1 GLI1 GLI2
8 homeostasis/metabolism MP:0005376 10.11 GLI2 MSX1 SHH TG TGFB3 TPO
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 GLI2 HOXA2 HOXB2 MSX1 SHH DLX2
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 9.61 HOXA2 HOXB2 MSX1 SHH DLX2 FGFR2
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 Year
1
A Novel FOXE1 Mutation (R73S) in Bamforth-Lazarus Syndrome Causing Increased Thyroidal Gene Expression. ( 24219130 )
2014

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

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

75
# 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 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate:

6
# 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.194C> T (p.Ala65Val) single nucleotide variant Pathogenic rs104894110 GRCh38 Chromosome 9, 97854108: 97854108
3 FOXE1 NM_004473.3(FOXE1): c.170G> A (p.Ser57Asn) single nucleotide variant Pathogenic rs28937575 GRCh37 Chromosome 9, 100616366: 100616366
4 FOXE1 NM_004473.3(FOXE1): c.170G> A (p.Ser57Asn) single nucleotide variant Pathogenic rs28937575 GRCh38 Chromosome 9, 97854084: 97854084
5 FOXE1 NM_004473.3(FOXE1): c.285A> G (p.Lys95=) single nucleotide variant Likely benign rs139551528 GRCh38 Chromosome 9, 97854199: 97854199
6 FOXE1 NM_004473.3(FOXE1): c.285A> G (p.Lys95=) single nucleotide variant Likely benign rs139551528 GRCh37 Chromosome 9, 100616481: 100616481
7 FOXE1 NM_004473.3(FOXE1): c.526_537delGCCGCCGCCGCC (p.Ala176_Ala179del) deletion Likely benign GRCh38 Chromosome 9, 97854440: 97854451
8 FOXE1 NM_004473.3(FOXE1): c.526_537delGCCGCCGCCGCC (p.Ala176_Ala179del) deletion Likely benign GRCh37 Chromosome 9, 100616722: 100616733
9 FOXE1 NM_004473.3(FOXE1): c.512_513insTGCCGCAGC (p.Ala179_Ile180insAlaAlaAla) insertion Benign GRCh38 Chromosome 9, 97854426: 97854427
10 FOXE1 NM_004473.3(FOXE1): c.512_513insTGCCGCAGC (p.Ala179_Ile180insAlaAlaAla) insertion Benign GRCh37 Chromosome 9, 100616708: 100616709

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...

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 FGFR2 SHH TGFB3 TPO
2 ciliary base GO:0097546 8.62 GLI1 GLI2

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 77)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.94 FGFR2 GLI2 MSX1 TGFB3
2 smoothened signaling pathway GO:0007224 9.86 GLI1 GLI2 SHH
3 cell fate commitment GO:0045165 9.85 FGFR2 HOXA2 SHH
4 embryonic digit morphogenesis GO:0042733 9.85 GLI2 MSX1 SHH
5 lung development GO:0030324 9.83 FGFR2 GLI1 GLI2 SHH
6 pattern specification process GO:0007389 9.82 GLI2 HOXA2 SHH
7 positive regulation of cell division GO:0051781 9.8 FGFR2 SHH TGFB3
8 positive regulation of DNA replication GO:0045740 9.79 GLI1 GLI2 TGFB3
9 roof of mouth development GO:0060021 9.78 FOXE1 MSX1 SHH TGFB3
10 midbrain development GO:0030901 9.77 FGFR2 MSX1 SHH
11 epithelial to mesenchymal transition GO:0001837 9.75 FGFR2 MSX1
12 embryonic skeletal system development GO:0048706 9.75 DLX2 SHH
13 positive regulation of cardiac muscle cell proliferation GO:0060045 9.75 FGFR2 GLI1
14 mammary gland development GO:0030879 9.75 GLI2 TGFB3
15 embryonic cranial skeleton morphogenesis GO:0048701 9.75 DLX2 FGFR2
16 pituitary gland development GO:0021983 9.75 GLI1 GLI2 MSX1
17 lung alveolus development GO:0048286 9.74 FGFR2 TGFB3
18 protein localization to nucleus GO:0034504 9.74 MSX1 SHH
19 anatomical structure development GO:0048856 9.74 GLI2 SHH
20 embryonic forelimb morphogenesis GO:0035115 9.74 MSX1 SHH
21 face morphogenesis GO:0060325 9.74 MSX1 TGFB3
22 bone morphogenesis GO:0060349 9.74 FGFR2 MSX1
23 positive regulation of smoothened signaling pathway GO:0045880 9.74 GLI1 SHH
24 hair follicle morphogenesis GO:0031069 9.74 FGFR2 FOXE1 SHH
25 branching morphogenesis of an epithelial tube GO:0048754 9.73 GLI2 SHH
26 embryonic hindlimb morphogenesis GO:0035116 9.73 MSX1 SHH
27 developmental growth GO:0048589 9.73 GLI2 SHH
28 positive regulation of mesenchymal cell proliferation GO:0002053 9.73 FGFR2 SHH
29 embryonic pattern specification GO:0009880 9.73 FGFR2 SHH
30 thyroid gland development GO:0030878 9.73 FOXE1 SHH TG
31 anatomical structure formation involved in morphogenesis GO:0048646 9.72 GLI2 SHH
32 hindbrain development GO:0030902 9.72 GLI2 SHH
33 middle ear morphogenesis GO:0042474 9.72 HOXA2 MSX1
34 spinal cord motor neuron differentiation GO:0021522 9.72 GLI2 SHH
35 proximal/distal pattern formation GO:0009954 9.72 DLX2 GLI1 GLI2
36 embryonic digestive tract morphogenesis GO:0048557 9.71 FGFR2 SHH
37 regulation of osteoblast differentiation GO:0045667 9.71 FGFR2 GLI1
38 digestive tract morphogenesis GO:0048546 9.71 GLI1 SHH
39 dorsal/ventral neural tube patterning GO:0021904 9.71 GLI2 SHH
40 thyroid hormone generation GO:0006590 9.71 FOXE1 TPO
41 regulation of smoothened signaling pathway GO:0008589 9.71 FGFR2 GLI1 GLI2
42 odontogenesis of dentin-containing tooth GO:0042475 9.71 DLX2 GLI2 MSX1 SHH
43 hormone biosynthetic process GO:0042446 9.7 TG TPO
44 limb bud formation GO:0060174 9.7 FGFR2 SHH
45 branching involved in salivary gland morphogenesis GO:0060445 9.7 FGFR2 SHH
46 positive regulation of T cell differentiation in thymus GO:0033089 9.7 GLI2 SHH
47 lung-associated mesenchyme development GO:0060484 9.69 FGFR2 SHH
48 lung lobe morphogenesis GO:0060463 9.69 FGFR2 SHH
49 osteoblast development GO:0002076 9.69 GLI2 HOXA2 SHH
50 spinal cord dorsal/ventral patterning GO:0021513 9.67 GLI2 SHH

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 transcription factor activity GO:0003700 9.72 DLX2 FOXE1 GLI2 HOXA2 HOXB2
2 DNA binding GO:0003677 9.7 DLX2 FOXE1 GLI1 GLI2 HOXA2 HOXB2
3 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.5 DLX2 FOXE1 GLI1 GLI2 HOXA2 HOXB2
4 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.43 DLX2 HOXB2 MSX1
5 sequence-specific DNA binding GO:0043565 9.1 DLX2 FOXE1 GLI2 HOXA2 HOXB2 MSX1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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