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 53 23 24 55 71 36 28
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/palate 53 24
Hrtfds 53 71
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 69
Holoprosencephaly, Ectrodactyly and Bilateral Cleft Lip/palate 71
Holoprosencephaly, Hypertelorism, and Ectrodactyly Syndrome 24
Holoprosencephaly-Ectrodactyly-Cleft Lip/palate Syndrome 55
Holoprosencephaly and Split Hand/foot Syndrome 24
Hartsfield-Bixler-Demyer Syndrome 24
Hhes 24

Characteristics:

Orphanet epidemiological data:

55
hartsfield syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
hartsfield syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hartsfield Syndrome

OMIM : 53 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, and has symptoms including hypertelorism, ptosis and respiratory insufficiency. An important gene associated with Hartsfield Syndrome is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Pathways in cancer and Gastric cancer. Affiliated tissues include brain and bone.

Genetics Home Reference : 24 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.

UniProtKB/Swiss-Prot : 71 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.

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:

53
Head And Neck Eyes:
hypertelorism
hypotelorism
epicanthal folds

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
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:

55 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 respiratory insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002093
4 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 cleft palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000175
6 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
7 telecanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000506
8 non-midline cleft lip 55 31 hallmark (90%) Very frequent (99-80%) HP:0100335
9 microphthalmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000568
10 low-set, posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000368
11 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
12 split hand 55 31 frequent (33%) Frequent (79-30%) HP:0001171
13 craniosynostosis 55 31 occasional (7.5%) Very frequent (99-80%) HP:0001363
14 aplasia/hypoplasia of the corpus callosum 55 31 hallmark (90%) Very frequent (99-80%) HP:0007370
15 encephalocele 55 31 hallmark (90%) Very frequent (99-80%) HP:0002084
16 lobar holoprosencephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0006870
17 aplasia/hypoplasia of the radius 55 31 frequent (33%) Frequent (79-30%) HP:0006501
18 low-set ears 31 HP:0000369
19 agenesis of corpus callosum 31 HP:0001274
20 global developmental delay 31 HP:0001263
21 microcephaly 31 HP:0000252
22 neonatal hypotonia 31 HP:0001319
23 epicanthus 31 HP:0000286
24 cryptorchidism 31 HP:0000028
25 hypospadias 31 HP:0000047
26 diabetes insipidus 31 HP:0000873
27 hypotelorism 31 HP:0000601
28 cleft upper lip 31 HP:0000204
29 wide nose 31 HP:0000445
30 ectrodactyly 31 HP:0100257
31 micropenis 31 HP:0000054
32 posteriorly rotated ears 31 HP:0000358
33 syndactyly 31 HP:0001159
34 hypernatremia 31 HP:0003228
35 gonadotropin deficiency 31 HP:0008213
36 hypoplasia of the frontal bone 31 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 28 FGFR1

Anatomical Context for Hartsfield Syndrome

MalaCards organs/tissues related to Hartsfield Syndrome:

38
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
Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis. ( 27170295 )
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
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. ( 26931467 )
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:

71
# 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
# 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.494T> C (p.Leu165Ser) single nucleotide variant Pathogenic rs397515481 GRCh37 Chromosome 8, 38285566: 38285566
3 FGFR1 NM_023110.2(FGFR1): c.1867G> T (p.Asp623Tyr) single nucleotide variant Pathogenic rs398122946 GRCh37 Chromosome 8, 38272407: 38272407
4 FGFR1 NM_023110.2(FGFR1): c.1884T> G (p.Asn628Lys) single nucleotide variant Pathogenic rs869025672 GRCh37 Chromosome 8, 38272390: 38272390
5 FGFR1 NM_023110.2(FGFR1): c.1880G> C (p.Arg627Thr) single nucleotide variant Pathogenic rs869025671 GRCh37 Chromosome 8, 38272394: 38272394
6 FGFR1 NM_023110.2(FGFR1): c.1468G> C (p.Gly490Arg) single nucleotide variant Pathogenic/Likely pathogenic rs869025670 GRCh37 Chromosome 8, 38275472: 38275472
7 FGFR1 NM_023110.2(FGFR1): c.572T> C (p.Leu191Ser) single nucleotide variant Pathogenic rs869025669 GRCh37 Chromosome 8, 38285488: 38285488
8 FGFR1 NM_023110.2(FGFR1): c.1454G> T (p.Gly485Val) single nucleotide variant Likely pathogenic rs876661332 GRCh38 Chromosome 8, 38417968: 38417968

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 17)
# Super pathways Score Top Affiliating Genes
1 12.29 FGF8 FGFR1
2
Show member pathways
12.22 FGF8 FGFR1
3 12.21 FGF8 FGFR1
4
Show member pathways
12.18 FGF8 FGFR1
5
Show member pathways
12.16 FGF8 FGFR1
6
Show member pathways
12.13 FGF8 FGFR1
7 12.05 FGF8 FGFR1
8
Show member pathways
11.99 FGF8 FGFR1
9
Show member pathways
11.94 FGF8 FGFR1
10
Show member pathways
11.84 FGF8 FGFR1
11
Show member pathways
11.78 FGF8 FGFR1
12
Show member pathways
11.77 FGF8 FGFR1
13
Show member pathways
11.61 FGF8 FGFR1
14
Show member pathways
11.46 FGF8 FGFR1
15 11.16 FGF8 FGFR1
16
Show member pathways
10.91 FGF8 FGFR1
17 10.52 FGF8 FGFR1

GO Terms for Hartsfield Syndrome

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.51 FGF8 FGFR1
2 MAPK cascade GO:0000165 9.49 FGF8 FGFR1
3 peptidyl-tyrosine phosphorylation GO:0018108 9.48 FGF8 FGFR1
4 positive regulation of protein kinase B signaling GO:0051897 9.46 FGF8 FGFR1
5 phosphatidylinositol phosphorylation GO:0046854 9.43 FGF8 FGFR1
6 lung development GO:0030324 9.4 FGF8 FGFR1
7 fibroblast growth factor receptor signaling pathway GO:0008543 9.37 FGF8 FGFR1
8 inner ear morphogenesis GO:0042472 9.32 FGF8 FGFR1
9 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.26 FGF8 FGFR1
10 generation of neurons GO:0048699 9.16 FGF8 FGFR1
11 organ induction GO:0001759 8.96 FGF8 FGFR1
12 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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