HRTFDS
MCID: HRT030
MIFTS: 43

Hartsfield Syndrome (HRTFDS)

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

Aliases & Classifications for Hartsfield Syndrome

MalaCards integrated aliases for Hartsfield Syndrome:

Name: Hartsfield Syndrome 58 25 26 60 76 38 30 6 41
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/palate 58 26
Hrtfds 58 76
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 74
Holoprosencephaly, Ectrodactyly and Bilateral Cleft Lip/palate 76
Holoprosencephaly, Hypertelorism, and Ectrodactyly Syndrome 26
Holoprosencephaly-Ectrodactyly-Cleft Lip/palate Syndrome 60
Holoprosencephaly and Split Hand/foot Syndrome 26
Hartsfield-Bixler-Demyer Syndrome 26
Hhes 26

Characteristics:

Orphanet epidemiological data:

60
hartsfield syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
hartsfield syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hartsfield Syndrome

OMIM : 58 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 holoprosencephaly ectrodactyly cleft lip palate. 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

Genetics Home Reference : 26 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 : 76 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

Human phenotypes related to Hartsfield Syndrome:

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
3 respiratory insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002093
4 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
5 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
6 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
7 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
8 non-midline cleft lip 60 33 hallmark (90%) Very frequent (99-80%) HP:0100335
9 microphthalmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000568
10 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
11 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
12 craniosynostosis 60 33 occasional (7.5%) Very frequent (99-80%) HP:0001363
13 aplasia/hypoplasia of the corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0007370
14 encephalocele 60 33 hallmark (90%) Very frequent (99-80%) HP:0002084
15 lobar holoprosencephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0006870
16 split hand 60 33 frequent (33%) Frequent (79-30%) HP:0001171
17 aplasia/hypoplasia of the radius 60 33 frequent (33%) Frequent (79-30%) HP:0006501
18 low-set ears 33 HP:0000369
19 agenesis of corpus callosum 33 HP:0001274
20 global developmental delay 33 HP:0001263
21 microcephaly 33 HP:0000252
22 neonatal hypotonia 33 HP:0001319
23 epicanthus 33 HP:0000286
24 cryptorchidism 33 HP:0000028
25 hypospadias 33 HP:0000047
26 diabetes insipidus 33 HP:0000873
27 hypotelorism 33 HP:0000601
28 cleft upper lip 33 HP:0000204
29 wide nose 33 HP:0000445
30 micropenis 33 HP:0000054
31 ectrodactyly 33 HP:0100257
32 posteriorly rotated ears 33 HP:0000358
33 syndactyly 33 HP:0001159
34 hypernatremia 33 HP:0003228
35 gonadotropin deficiency 33 HP:0008213
36 hypoplasia of the frontal bone 33 HP:0005466
37 psychomotor retardation 33 HP:0025356

Symptoms via clinical synopsis from OMIM:

58
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

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 30 FGFR1

Anatomical Context for Hartsfield Syndrome

MalaCards organs/tissues related to Hartsfield Syndrome:

42
Brain, Bone

Publications for Hartsfield Syndrome

Articles related to Hartsfield Syndrome:

# Title Authors Year
1
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway. ( 30787447 )
2019
2
Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature. ( 28583501 )
2017
3
Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis. ( 27170295 )
2016
4
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. ( 26931467 )
2016
5
Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing. ( 27604603 )
2016
6
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome. ( 27790375 )
2016
7
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. ( 24888332 )
2014
8
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. ( 23812909 )
2013
9
Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting. ( 22887648 )
2012
10
Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. ( 19504604 )
2009

Variations for Hartsfield Syndrome

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

76
# 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 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR1 NM_023110.2(FGFR1): c.899T> C (p.Ile300Thr) single nucleotide variant Uncertain significance rs121909633 GRCh37 Chromosome 8, 38282064: 38282064
2 FGFR1 NM_023110.2(FGFR1): c.899T> C (p.Ile300Thr) single nucleotide variant Uncertain significance rs121909633 GRCh38 Chromosome 8, 38424546: 38424546
3 FGFR1 NM_023110.2(FGFR1): c.1097C> T (p.Pro366Leu) single nucleotide variant Likely pathogenic rs121909641 GRCh37 Chromosome 8, 38277238: 38277238
4 FGFR1 NM_023110.2(FGFR1): c.1097C> T (p.Pro366Leu) single nucleotide variant Likely pathogenic rs121909641 GRCh38 Chromosome 8, 38419720: 38419720
5 FGFR1 NM_023110.2(FGFR1): c.2174G> A (p.Cys725Tyr) single nucleotide variant Pathogenic rs398122945 GRCh37 Chromosome 8, 38271682: 38271682
6 FGFR1 NM_023110.2(FGFR1): c.2174G> A (p.Cys725Tyr) single nucleotide variant Pathogenic rs398122945 GRCh38 Chromosome 8, 38414164: 38414164
7 FGFR1 NM_023110.2(FGFR1): c.494T> C (p.Leu165Ser) single nucleotide variant Pathogenic rs397515481 GRCh37 Chromosome 8, 38285566: 38285566
8 FGFR1 NM_023110.2(FGFR1): c.494T> C (p.Leu165Ser) single nucleotide variant Pathogenic rs397515481 GRCh38 Chromosome 8, 38428048: 38428048
9 FGFR1 NM_023110.2(FGFR1): c.1867G> T (p.Asp623Tyr) single nucleotide variant Pathogenic rs398122946 GRCh37 Chromosome 8, 38272407: 38272407
10 FGFR1 NM_023110.2(FGFR1): c.1867G> T (p.Asp623Tyr) single nucleotide variant Pathogenic rs398122946 GRCh38 Chromosome 8, 38414889: 38414889
11 FGFR1 NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp) single nucleotide variant Pathogenic rs515726224 GRCh37 Chromosome 8, 38275480: 38275480
12 FGFR1 NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp) single nucleotide variant Pathogenic rs515726224 GRCh38 Chromosome 8, 38417962: 38417962
13 FGFR1 NM_023110.2(FGFR1): c.1884T> G (p.Asn628Lys) single nucleotide variant Pathogenic rs869025672 GRCh37 Chromosome 8, 38272390: 38272390
14 FGFR1 NM_023110.2(FGFR1): c.1884T> G (p.Asn628Lys) single nucleotide variant Pathogenic rs869025672 GRCh38 Chromosome 8, 38414872: 38414872
15 FGFR1 NM_023110.2(FGFR1): c.1880G> C (p.Arg627Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs869025671 GRCh37 Chromosome 8, 38272394: 38272394
16 FGFR1 NM_023110.2(FGFR1): c.1880G> C (p.Arg627Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs869025671 GRCh38 Chromosome 8, 38414876: 38414876
17 FGFR1 NM_023110.2(FGFR1): c.1468G> C (p.Gly490Arg) single nucleotide variant Pathogenic/Likely pathogenic rs869025670 GRCh37 Chromosome 8, 38275472: 38275472
18 FGFR1 NM_023110.2(FGFR1): c.1468G> C (p.Gly490Arg) single nucleotide variant Pathogenic/Likely pathogenic rs869025670 GRCh38 Chromosome 8, 38417954: 38417954
19 FGFR1 NM_023110.2(FGFR1): c.572T> C (p.Leu191Ser) single nucleotide variant Pathogenic rs869025669 GRCh37 Chromosome 8, 38285488: 38285488
20 FGFR1 NM_023110.2(FGFR1): c.572T> C (p.Leu191Ser) single nucleotide variant Pathogenic rs869025669 GRCh38 Chromosome 8, 38427970: 38427970
21 FGFR1 NM_023110.2(FGFR1): c.1454G> T (p.Gly485Val) single nucleotide variant Likely pathogenic rs876661332 GRCh38 Chromosome 8, 38417968: 38417968
22 FGFR1 NM_023110.2(FGFR1): c.1454G> T (p.Gly485Val) single nucleotide variant Likely pathogenic rs876661332 GRCh37 Chromosome 8, 38275486: 38275486
23 FGFR1 NM_023110.2(FGFR1): c.1604_1606delTGA (p.Met535del) deletion Pathogenic/Likely pathogenic rs1554551657 GRCh37 Chromosome 8, 38274881: 38274883
24 FGFR1 NM_023110.2(FGFR1): c.1604_1606delTGA (p.Met535del) deletion Pathogenic/Likely pathogenic rs1554551657 GRCh38 Chromosome 8, 38417363: 38417365
25 FGFR1 NM_023110.2(FGFR1): c.1604T> A (p.Met535Lys) single nucleotide variant Pathogenic rs1554551667 GRCh37 Chromosome 8, 38274883: 38274883
26 FGFR1 NM_023110.2(FGFR1): c.1604T> A (p.Met535Lys) single nucleotide variant Pathogenic rs1554551667 GRCh38 Chromosome 8, 38417365: 38417365
27 FGFR1 NM_023110.2(FGFR1): c.1921G> A (p.Asp641Asn) single nucleotide variant Pathogenic rs1554548253 GRCh38 Chromosome 8, 38414835: 38414835
28 FGFR1 NM_023110.2(FGFR1): c.1921G> A (p.Asp641Asn) single nucleotide variant Pathogenic rs1554548253 GRCh37 Chromosome 8, 38272353: 38272353
29 FGFR1 NM_023110.2(FGFR1): c.1869C> G (p.Asp623Glu) single nucleotide variant Pathogenic rs780009859 GRCh38 Chromosome 8, 38414887: 38414887
30 FGFR1 NM_023110.2(FGFR1): c.1869C> G (p.Asp623Glu) single nucleotide variant Pathogenic rs780009859 GRCh37 Chromosome 8, 38272405: 38272405
31 FGFR1 NM_023110.2(FGFR1): c.454G> A (p.Ala152Thr) single nucleotide variant Benign rs1033377277 GRCh38 Chromosome 8, 38428088: 38428088
32 FGFR1 NM_023110.2(FGFR1): c.454G> A (p.Ala152Thr) single nucleotide variant Benign rs1033377277 GRCh37 Chromosome 8, 38285606: 38285606
33 FGFR1 NM_023110.2(FGFR1): c.304G> A (p.Val102Ile) single nucleotide variant Benign rs55642501 GRCh37 Chromosome 8, 38287254: 38287254
34 FGFR1 NM_023110.2(FGFR1): c.304G> A (p.Val102Ile) single nucleotide variant Benign rs55642501 GRCh38 Chromosome 8, 38429736: 38429736
35 FGFR1 NM_001174066.1(FGFR1): c.1729T> C (p.Trp577Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 38414611: 38414611
36 FGFR1 NM_001174066.1(FGFR1): c.1729T> C (p.Trp577Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 38272129: 38272129

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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 FGF8 FGFR1
2 12.33 FGF8 FGFR1
3 12.25 FGF8 FGFR1
4
Show member pathways
12.24 FGF8 FGFR1
5
Show member pathways
12.21 FGF8 FGFR1
6
Show member pathways
12.2 FGF8 FGFR1
7
Show member pathways
12.19 FGF8 FGFR1
8
Show member pathways
12.17 FGF8 FGFR1
9 12.09 FGF8 FGFR1
10
Show member pathways
11.96 FGF8 FGFR1
11
Show member pathways
11.9 FGF8 FGFR1
12
Show member pathways
11.87 FGF8 FGFR1
13
Show member pathways
11.81 FGF8 FGFR1
14
Show member pathways
11.8 FGF8 FGFR1
15
Show member pathways
11.72 FGF8 FGFR1
16
Show member pathways
11.66 FGF8 FGFR1
17
Show member pathways
11.55 FGF8 FGFR1
18
Show member pathways
11.52 FGF8 FGFR1
19 11.18 FGF8 FGFR1
20 11.16 FGF8 FGFR1
21
Show member pathways
10.91 FGF8 FGFR1
22 10.52 FGF8 FGFR1
23 10.52 FGF8 FGFR1
24 10.4 FGF8 FGFR1

GO Terms for Hartsfield Syndrome

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.49 FGF8 FGFR1
2 MAPK cascade GO:0000165 9.46 FGF8 FGFR1
3 positive regulation of protein kinase B signaling GO:0051897 9.4 FGF8 FGFR1
4 lung development GO:0030324 9.37 FGF8 FGFR1
5 fibroblast growth factor receptor signaling pathway GO:0008543 9.32 FGF8 FGFR1
6 inner ear morphogenesis GO:0042472 9.26 FGF8 FGFR1
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.18 FGF8
8 generation of neurons GO:0048699 9.16 FGF8 FGFR1
9 peptidyl-tyrosine phosphorylation GO:0018108 9.13 FGFR1
10 branching involved in salivary gland morphogenesis GO:0060445 8.96 FGF8 FGFR1
11 organ induction GO:0001759 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 8.32 FGFR1

Sources for Hartsfield Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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