MCID: HRT030
MIFTS: 43

Hartsfield Syndrome

Categories: Genetic diseases, Neuronal diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hartsfield Syndrome

MalaCards integrated aliases for Hartsfield Syndrome:

Name: Hartsfield Syndrome 57 24 25 59 75 37 29 6 40
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/palate 57 25
Hrtfds 57 75
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 73
Holoprosencephaly, Ectrodactyly and Bilateral Cleft Lip/palate 75
Holoprosencephaly, Hypertelorism, and Ectrodactyly Syndrome 25
Holoprosencephaly-Ectrodactyly-Cleft Lip/palate Syndrome 59
Holoprosencephaly and Split Hand/foot Syndrome 25
Hartsfield-Bixler-Demyer Syndrome 25
Hhes 25

Characteristics:

Orphanet epidemiological data:

59
hartsfield syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hartsfield syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hartsfield Syndrome

OMIM : 57 Hartsfield syndrome classically refers to the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound mental retardation is also present. Multiple other congenital anomalies usually occur (Vilain et al., 2009). The disorder involves midline and limb field defects (Zechi-Ceide et al., 2009). See also ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC; 129900), which shows phenotypic similarities. (615465)

MalaCards based summary : Hartsfield Syndrome, also known as holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate, is related to holoprosencephaly and idiopathic hemiconvulsion-hemiplegia syndrome. An important gene associated with Hartsfield Syndrome is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Downstream signaling of activated FGFR2 and Pathways in cancer. Affiliated tissues include brain and bone, and related phenotypes are hypertelorism and ptosis

UniProtKB/Swiss-Prot : 75 Hartsfield syndrome: A syndrome characterized by the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound mental retardation is also present. Multiple other congenital anomalies usually occur.

Genetics Home Reference : 25 Hartsfield syndrome is a rare condition characterized by holoprosencephaly, which is an abnormality of brain development, and a malformation of the hands and feet called ectrodactyly.

GeneReviews: NBK349073

Related Diseases for Hartsfield Syndrome

Graphical network of the top 20 diseases related to Hartsfield Syndrome:



Diseases related to Hartsfield Syndrome

Symptoms & Phenotypes for Hartsfield Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
hypotelorism
epicanthal folds

Head And Neck Head:
microcephaly

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Endocrine Features:
diabetes insipidus
gonadotropin deficiency

Skeletal Hands:
ectrodactyly
syndactyly

Laboratory Abnormalities:
hypernatremia

Skeletal Skull:
craniosynostosis (reported in 1 patient)
hypoplastic frontal bones

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary External Genitalia Male:
hypospadias
small penis

Neurologic Central Nervous System:
lobar holoprosencephaly
agenesis of the corpus callosum
hypotonia, neonatal
psychomotor retardation, severe
vermian hypoplasia

Skeletal Feet:
ectrodactyly
syndactyly

Head And Neck Nose:
broad nose


Clinical features from OMIM:

615465

Human phenotypes related to Hartsfield Syndrome:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
3 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
4 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
6 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
7 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
8 non-midline cleft lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0100335
9 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
10 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
11 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
12 split hand 59 32 frequent (33%) Frequent (79-30%) HP:0001171
13 craniosynostosis 59 32 occasional (7.5%) Very frequent (99-80%) HP:0001363
14 aplasia/hypoplasia of the corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007370
15 encephalocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0002084
16 lobar holoprosencephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006870
17 aplasia/hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0006501
18 low-set ears 32 HP:0000369
19 agenesis of corpus callosum 32 HP:0001274
20 global developmental delay 32 HP:0001263
21 microcephaly 32 HP:0000252
22 neonatal hypotonia 32 HP:0001319
23 epicanthus 32 HP:0000286
24 cryptorchidism 32 HP:0000028
25 hypospadias 32 HP:0000047
26 diabetes insipidus 32 HP:0000873
27 hypotelorism 32 HP:0000601
28 cleft upper lip 32 HP:0000204
29 wide nose 32 HP:0000445
30 ectrodactyly 32 HP:0100257
31 micropenis 32 HP:0000054
32 posteriorly rotated ears 32 HP:0000358
33 syndactyly 32 HP:0001159
34 hypernatremia 32 HP:0003228
35 gonadotropin deficiency 32 HP:0008213
36 hypoplasia of the frontal bone 32 HP:0005466

Drugs & Therapeutics for Hartsfield Syndrome

Search Clinical Trials , NIH Clinical Center for Hartsfield Syndrome

Genetic Tests for Hartsfield Syndrome

Genetic tests related to Hartsfield Syndrome:

# Genetic test Affiliating Genes
1 Hartsfield Syndrome 29 FGFR1

Anatomical Context for Hartsfield Syndrome

MalaCards organs/tissues related to Hartsfield Syndrome:

41
Brain, Bone

Publications for Hartsfield Syndrome

Articles related to Hartsfield Syndrome:

# Title Authors Year
1
Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature. ( 28583501 )
2017
2
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. ( 26931467 )
2016
3
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome. ( 27790375 )
2016
4
Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing. ( 27604603 )
2016
5
Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis. ( 27170295 )
2016
6
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. ( 24888332 )
2014
7
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. ( 23812909 )
2013
8
Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting. ( 22887648 )
2012
9
Hartsfield Syndrome ( 26937548 )
1993

Variations for Hartsfield Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Hartsfield Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 FGFR1 p.Leu165Ser VAR_070851 rs397515481
2 FGFR1 p.Leu191Ser VAR_070852 rs869025669
3 FGFR1 p.Gly490Arg VAR_070853 rs869025670
4 FGFR1 p.Asp623Tyr VAR_070854 rs398122946
5 FGFR1 p.Asn628Lys VAR_070855 rs869025672
6 FGFR1 p.Cys725Tyr VAR_070856 rs398122945
7 FGFR1 p.Arg627Thr VAR_071460 rs869025671

ClinVar genetic disease variations for Hartsfield Syndrome:

6
(show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR1 NM_023110.2(FGFR1): c.2174G> A (p.Cys725Tyr) single nucleotide variant Pathogenic rs398122945 GRCh37 Chromosome 8, 38271682: 38271682
2 FGFR1 NM_023110.2(FGFR1): c.2174G> A (p.Cys725Tyr) single nucleotide variant Pathogenic rs398122945 GRCh38 Chromosome 8, 38414164: 38414164
3 FGFR1 NM_023110.2(FGFR1): c.494T> C (p.Leu165Ser) single nucleotide variant Pathogenic rs397515481 GRCh37 Chromosome 8, 38285566: 38285566
4 FGFR1 NM_023110.2(FGFR1): c.494T> C (p.Leu165Ser) single nucleotide variant Pathogenic rs397515481 GRCh38 Chromosome 8, 38428048: 38428048
5 FGFR1 NM_023110.2(FGFR1): c.1867G> T (p.Asp623Tyr) single nucleotide variant Pathogenic rs398122946 GRCh37 Chromosome 8, 38272407: 38272407
6 FGFR1 NM_023110.2(FGFR1): c.1867G> T (p.Asp623Tyr) single nucleotide variant Pathogenic rs398122946 GRCh38 Chromosome 8, 38414889: 38414889
7 FGFR1 NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp) single nucleotide variant Pathogenic rs515726224 GRCh37 Chromosome 8, 38275480: 38275480
8 FGFR1 NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp) single nucleotide variant Pathogenic rs515726224 GRCh38 Chromosome 8, 38417962: 38417962
9 FGFR1 NM_023110.2(FGFR1): c.1884T> G (p.Asn628Lys) single nucleotide variant Pathogenic rs869025672 GRCh37 Chromosome 8, 38272390: 38272390
10 FGFR1 NM_023110.2(FGFR1): c.1884T> G (p.Asn628Lys) single nucleotide variant Pathogenic rs869025672 GRCh38 Chromosome 8, 38414872: 38414872
11 FGFR1 NM_023110.2(FGFR1): c.1880G> C (p.Arg627Thr) single nucleotide variant Pathogenic rs869025671 GRCh37 Chromosome 8, 38272394: 38272394
12 FGFR1 NM_023110.2(FGFR1): c.1880G> C (p.Arg627Thr) single nucleotide variant Pathogenic rs869025671 GRCh38 Chromosome 8, 38414876: 38414876
13 FGFR1 NM_023110.2(FGFR1): c.1468G> C (p.Gly490Arg) single nucleotide variant Pathogenic/Likely pathogenic rs869025670 GRCh37 Chromosome 8, 38275472: 38275472
14 FGFR1 NM_023110.2(FGFR1): c.1468G> C (p.Gly490Arg) single nucleotide variant Pathogenic/Likely pathogenic rs869025670 GRCh38 Chromosome 8, 38417954: 38417954
15 FGFR1 NM_023110.2(FGFR1): c.572T> C (p.Leu191Ser) single nucleotide variant Pathogenic rs869025669 GRCh37 Chromosome 8, 38285488: 38285488
16 FGFR1 NM_023110.2(FGFR1): c.572T> C (p.Leu191Ser) single nucleotide variant Pathogenic rs869025669 GRCh38 Chromosome 8, 38427970: 38427970
17 FGFR1 NM_023110.2(FGFR1): c.1454G> T (p.Gly485Val) single nucleotide variant Likely pathogenic rs876661332 GRCh38 Chromosome 8, 38417968: 38417968
18 FGFR1 NM_023110.2(FGFR1): c.1454G> T (p.Gly485Val) single nucleotide variant Likely pathogenic rs876661332 GRCh37 Chromosome 8, 38275486: 38275486
19 FGFR1 NM_023110.2(FGFR1): c.1604_1606delTGA (p.Met535del) deletion Pathogenic/Likely pathogenic GRCh37 Chromosome 8, 38274881: 38274883
20 FGFR1 NM_023110.2(FGFR1): c.1604_1606delTGA (p.Met535del) deletion Pathogenic/Likely pathogenic GRCh38 Chromosome 8, 38417363: 38417365
21 FGFR1 NM_023110.2(FGFR1): c.1604T> A (p.Met535Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 38274883: 38274883
22 FGFR1 NM_023110.2(FGFR1): c.1604T> A (p.Met535Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 38417365: 38417365
23 FGFR1 NM_023110.2(FGFR1): c.1921G> A (p.Asp641Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 38414835: 38414835
24 FGFR1 NM_023110.2(FGFR1): c.1921G> A (p.Asp641Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 38272353: 38272353
25 FGFR1 NM_023110.2(FGFR1): c.1869C> G (p.Asp623Glu) single nucleotide variant Pathogenic rs780009859 GRCh38 Chromosome 8, 38414887: 38414887
26 FGFR1 NM_023110.2(FGFR1): c.1869C> G (p.Asp623Glu) single nucleotide variant Pathogenic rs780009859 GRCh37 Chromosome 8, 38272405: 38272405
27 FGFR1 NM_023110.2(FGFR1): c.454G> A (p.Ala152Thr) single nucleotide variant Benign rs1033377277 GRCh38 Chromosome 8, 38428088: 38428088
28 FGFR1 NM_023110.2(FGFR1): c.454G> A (p.Ala152Thr) single nucleotide variant Benign rs1033377277 GRCh37 Chromosome 8, 38285606: 38285606
29 FGFR1 NM_023110.2(FGFR1): c.304G> A (p.Val102Ile) single nucleotide variant Benign rs55642501 GRCh37 Chromosome 8, 38287254: 38287254
30 FGFR1 NM_023110.2(FGFR1): c.304G> A (p.Val102Ile) single nucleotide variant Benign rs55642501 GRCh38 Chromosome 8, 38429736: 38429736

Expression for Hartsfield Syndrome

Search GEO for disease gene expression data for Hartsfield Syndrome.

Pathways for Hartsfield Syndrome

Pathways related to Hartsfield Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 FGF8 FGFR1
2 12.3 FGF8 FGFR1
3
Show member pathways
12.25 FGF8 FGFR1
4 12.23 FGF8 FGFR1
5
Show member pathways
12.22 FGF8 FGFR1
6
Show member pathways
12.19 FGF8 FGFR1
7
Show member pathways
12.18 FGF8 FGFR1
8
Show member pathways
12.14 FGF8 FGFR1
9 12.05 FGF8 FGFR1
10
Show member pathways
11.99 FGF8 FGFR1
11
Show member pathways
11.94 FGF8 FGFR1
12
Show member pathways
11.84 FGF8 FGFR1
13
Show member pathways
11.78 FGF8 FGFR1
14
Show member pathways
11.77 FGF8 FGFR1
15
Show member pathways
11.61 FGF8 FGFR1
16
Show member pathways
11.52 FGF8 FGFR1
17
Show member pathways
11.46 FGF8 FGFR1
18 11.16 FGF8 FGFR1
19
Show member pathways
10.91 FGF8 FGFR1
20 10.52 FGF8 FGFR1

GO Terms for Hartsfield Syndrome

Biological processes related to Hartsfield Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.52 FGF8 FGFR1
2 MAPK cascade GO:0000165 9.51 FGF8 FGFR1
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.49 FGF8 FGFR1
4 peptidyl-tyrosine phosphorylation GO:0018108 9.48 FGF8 FGFR1
5 positive regulation of protein kinase B signaling GO:0051897 9.46 FGF8 FGFR1
6 phosphatidylinositol phosphorylation GO:0046854 9.43 FGF8 FGFR1
7 lung development GO:0030324 9.4 FGF8 FGFR1
8 fibroblast growth factor receptor signaling pathway GO:0008543 9.37 FGF8 FGFR1
9 inner ear morphogenesis GO:0042472 9.32 FGF8 FGFR1
10 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.26 FGF8 FGFR1
11 generation of neurons GO:0048699 9.16 FGF8 FGFR1
12 organ induction GO:0001759 8.96 FGF8 FGFR1
13 branching involved in salivary gland morphogenesis GO:0060445 8.62 FGF8 FGFR1

Molecular functions related to Hartsfield Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.26 FGF8 FGFR1
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.16 FGF8 FGFR1
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.96 FGF8 FGFR1
4 1-phosphatidylinositol-3-kinase activity GO:0016303 8.62 FGF8 FGFR1

Sources for Hartsfield Syndrome

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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