HRTFDS
MCID: HRT030
MIFTS: 46

Hartsfield Syndrome (HRTFDS)

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

Aliases & Classifications for Hartsfield Syndrome

MalaCards integrated aliases for Hartsfield Syndrome:

Name: Hartsfield Syndrome 57 25 20 43 58 73 36 29 6 39
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/palate 57 43
Hrtfds 57 73
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 71
Holoprosencephaly, Ectrodactyly and Bilateral Cleft Lip/palate 73
Holoprosencephaly, Hypertelorism, and Ectrodactyly Syndrome 43
Holoprosencephaly-Ectrodactyly-Cleft Lip/palate Syndrome 58
Holoprosencephaly Ectrodactyly Cleft Lip Palate 20
Holoprosencephaly and Split Hand/foot Syndrome 43
Hartsfield-Bixler-Demyer Syndrome 43
Hhes 43

Characteristics:

Orphanet epidemiological data:

58
hartsfield syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
hartsfield syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Hartsfield Syndrome

MedlinePlus Genetics : 43 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.During early development before birth, the brain normally divides into two halves, the right and left hemispheres. Holoprosencephaly occurs when the brain fails to divide properly. In the most severe forms of holoprosencephaly, the brain does not divide at all. These affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. Most babies with severe holoprosencephaly die before birth or soon after. In less severe cases of holoprosencephaly, the brain is partially divided. The life expectancy of these affected individuals depends on the severity of signs and symptoms.People with Hartsfield syndrome often have other brain abnormalities associated with holoprosencephaly. Affected individuals may have a malfunctioning pituitary, which is a gland located at the base of the brain that produces several hormones. Because pituitary dysfunction leads to the partial or complete absence of these hormones, it can cause a variety of disorders. These include diabetes insipidus, which disrupts the balance between fluid intake and urine excretion; a shortage (deficiency) of growth hormone, leading to slow or delayed growth; and hypogonadotropic hypogonadism, which affects the production of hormones that direct sexual development. Dysfunction in other parts of the brain can cause seizures, feeding difficulties, and problems regulating body temperature and sleep patterns. People with Hartsfield syndrome have delayed development that ranges from mild to severe.The other hallmark feature of Hartsfield syndrome is ectrodactyly. Ectrodactyly is a deep split in the hands, feet, or both, with missing fingers or toes and partial fusion of the remaining digits. It can affect the hands and feet on one or both sides. Other features that have been described in people with Hartsfield syndrome include premature fusion of certain bones of the skull (craniosynostosis), heart defects, abnormalities of the bones of the spine (vertebrae), and abnormal genitalia. Some affected individuals have distinctive facial features, including eyes that are widely spaced (hypertelorism) or closely spaced (hypotelorism), ears that are abnormally small or unusually shaped, and a split in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).

MalaCards based summary : Hartsfield Syndrome, also known as holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate, is related to holoprosencephaly and hypogonadotropic hypogonadism. 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. The drugs Bupivacaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include brain, pituitary and eye, and related phenotypes are ptosis and respiratory insufficiency

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) (Updated 05-Mar-2021)

KEGG : 36 Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. HPE and ectrodactyly can occur, separately, as part of numerous syndromes, but the co-occurrence of these two malformations has only been reported only in a very limited number. Additional signs such as craniosynostosis, hypertelorism or hypotelorism, microphthalmia, abnormal ears, radial agenesis, genital anomalies, severe psychomotor retardation, and hypothalamic-pituitary dysfunction have been observed. Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome.

UniProtKB/Swiss-Prot : 73 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

Diseases related to Hartsfield Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 30.4 FGFR1 FGF8
2 hypogonadotropic hypogonadism 30.2 FGFR1 FGF8
3 hypogonadism 30.2 FGFR1 FGF8
4 lobar holoprosencephaly 29.7 FGFR1 FGF8
5 jackson-weiss syndrome 29.6 FGFR1 FGF8
6 pfeiffer syndrome 29.6 FGFR1 FGF8
7 kallmann syndrome 29.6 FGFR1 FGF8
8 chromosome 2q35 duplication syndrome 29.5 FGFR1 FGF8
9 split-hand/foot malformation 1 10.4
10 isolated split hand-split foot malformation 10.4
11 cleft lip 10.3
12 cleft lip/palate 10.3
13 diabetes insipidus 10.2
14 gastroesophageal reflux 9.9
15 hypogonadotropic hypogonadism 7 with or without anosmia 9.9
16 osteoglophonic dysplasia 9.9
17 corpus callosum, agenesis of 9.9
18 polydactyly 9.9
19 split hand-foot malformation 9.9
20 microcephaly 9.9
21 calcinosis 9.9
22 isolated gonadotropin-releasing hormone deficiency 9.9
23 absence of septum pellucidum 9.9
24 nonsyndromic holoprosencephaly 9.9
25 spasticity 9.9
26 congenital hypogonadotropic hypogonadism 9.9 FGFR1 FGF8
27 deafness, autosomal recessive 71 9.8 FGFR1 FGF8
28 microform holoprosencephaly 9.8 FGFR1 FGF8
29 holoprosencephaly 1 9.8 FGFR1 FGF8
30 muenke syndrome 9.8 FGFR1 FGF8
31 semilobar holoprosencephaly 9.8 FGFR1 FGF8
32 choanal atresia, posterior 9.8 FGFR1 FGF8
33 thanatophoric dysplasia, type i 9.8 FGFR1 FGF8
34 lacrimoauriculodentodigital syndrome 9.8 FGFR1 FGF8
35 normosmic congenital hypogonadotropic hypogonadism 9.8 FGFR1 FGF8
36 van der woude syndrome 1 9.8 FGFR1 FGF8
37 apert syndrome 9.8 FGFR1 FGF8
38 crouzon syndrome 9.8 FGFR1 FGF8
39 septooptic dysplasia 9.8 FGFR1 FGF8
40 bone development disease 9.8 FGFR1 FGF8
41 charge syndrome 9.8 FGFR1 FGF8
42 synostosis 9.8 FGFR1 FGF8
43 renal hypodysplasia/aplasia 1 9.8 FGFR1 FGF8
44 coloboma of macula 9.8 FGFR1 FGF8
45 cryptorchidism, unilateral or bilateral 9.8 FGFR1 FGF8
46 craniosynostosis 9.7 FGFR1 FGF8
47 tooth agenesis 9.7 FGFR1 FGF8
48 orofacial cleft 9.7 FGFR1 FGF8
49 rasopathy 9.7 FGFR1 FGF8
50 odontochondrodysplasia 9.7 FGFR1 FGF8

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:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
5 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
6 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
7 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
8 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
9 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
10 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
11 craniosynostosis 58 31 occasional (7.5%) Very frequent (99-80%) HP:0001363
12 aplasia/hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007370
13 encephalocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0002084
14 lobar holoprosencephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006870
15 non-midline cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0100335
16 split hand 58 31 frequent (33%) Frequent (79-30%) HP:0001171
17 aplasia/hypoplasia of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0006501
18 agenesis of corpus callosum 31 HP:0001274
19 global developmental delay 31 HP:0001263
20 microcephaly 31 HP:0000252
21 neonatal hypotonia 31 HP:0001319
22 cryptorchidism 31 HP:0000028
23 low-set ears 31 HP:0000369
24 epicanthus 31 HP:0000286
25 diabetes insipidus 31 HP:0000873
26 micropenis 31 HP:0000054
27 cleft upper lip 31 HP:0000204
28 hypospadias 31 HP:0000047
29 hypotelorism 31 HP:0000601
30 wide nose 31 HP:0000445
31 ectrodactyly 31 HP:0100257
32 psychomotor retardation 31 HP:0025356
33 posteriorly rotated ears 31 HP:0000358
34 syndactyly 31 HP:0001159
35 gonadotropin deficiency 31 HP:0008213
36 hypernatremia 31 HP:0003228
37 hypoplasia of the frontal bone 31 HP:0005466

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
hypertelorism
hypotelorism
epicanthal folds

Head And Neck Mouth:
cleft palate
cleft lip

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

Genitourinary External Genitalia Male:
hypospadias
small penis

Skeletal Hands:
ectrodactyly
syndactyly

Laboratory Abnormalities:
hypernatremia

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

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Endocrine Features:
diabetes insipidus
gonadotropin deficiency

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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Hartsfield Syndrome

Drugs for Hartsfield Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474
2 Anesthetics
3 Analgesics
4 Anesthetics, Local
5 Antihypertensive Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Open-tip End-hole and Close-tip Triple-hole Catheters For Continuous Infraclavicular Analgesia Completed NCT04205695
2 Feasibility Study for a Cluster Randomized Trial on Integrated Primary Care Strategies to Reduce High Blood Pressure (Control of Blood Pressure and Risk Attenuation-rural Bangladesh, Pakistan, Sri Lanka, Feasibility Study) Completed NCT02341651
3 Control of Blood Pressure and Risk Attenuation-Bangladesh, Pakistan and Sri Lanka (COBRA-BPS) Enrolling by invitation NCT02657746

Search 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:

40
Brain, Pituitary, Eye, Bone

Publications for Hartsfield Syndrome

Articles related to Hartsfield Syndrome:

(show all 31)
# Title Authors PMID Year
1
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 25 57 61 6
23812909 2013
2
Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. 57 61 6
19504604 2009
3
Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing. 61 25
27604603 2016
4
Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene. 61 25
25339597 2015
5
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 25 61
24888332 2014
6
Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting. 25 61
22887648 2012
7
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes. 57
19449411 2009
8
Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up. 57
14564207 2003
9
Holoprosencephaly, telecanthus and ectrodactyly: a second case. 57
1342859 1992
10
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. 25
25394172 2015
11
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life. 25
26051373 2015
12
Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. 25
24204987 2013
13
Mechanisms of FGFR-mediated carcinogenesis. 25
22273505 2012
14
Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome. 25
23154428 2012
15
Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature. 25
20104609 2010
16
FGFR1 mutations in Kallmann syndrome. 25
20389085 2010
17
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. 25
16470795 2006
18
Development of midline cell types and commissural axon tracts requires Fgfr1 in the cerebrum. 25
16309667 2006
19
The structure and function of vertebrate fibroblast growth factor receptor 1. 25
12141425 2002
20
Holoprosencephaly and split hand/foot: an additional case with this rare association. 25
11666003 2001
21
Association of holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism: a possible third case. 25
9689997 1998
22
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 25
7795583 1995
23
Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1. 61
32373773 2020
24
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. 61
31512363 2019
25
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway. 61
30787447 2019
26
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1. 61
28825856 2017
27
Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature. 61
28583501 2017
28
Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis. 61
27170295 2016
29
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. 61
26931467 2016
30
Hartsfield Syndrome 61
26937548 2016
31
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome. 61
27790375 2016

Variations for Hartsfield Syndrome

ClinVar genetic disease variations for Hartsfield Syndrome:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR1 NM_023110.2(FGFR1):c.1604T>A (p.Met535Lys) SNV Pathogenic 496784 rs1554551667 8:38274883-38274883 8:38417365-38417365
2 FGFR1 NM_023110.2(FGFR1):c.1921G>A (p.Asp641Asn) SNV Pathogenic 517666 rs1554548253 8:38272353-38272353 8:38414835-38414835
3 FGFR1 NM_023110.2(FGFR1):c.1869C>G (p.Asp623Glu) SNV Pathogenic 522553 rs780009859 8:38272405-38272405 8:38414887-38414887
4 FGFR1 NM_015850.4(FGFR1):c.1595_1597TGA[1] (p.Met533del) Microsatellite Pathogenic 449023 rs1554551657 8:38274881-38274883 8:38417363-38417365
5 FGFR1 NM_001174066.2(FGFR1):c.1729T>C (p.Trp577Arg) SNV Pathogenic 585294 rs1563433902 8:38272129-38272129 8:38414611-38414611
6 FGFR1 NM_023105.3(FGFR1):c.1614G>C (p.Arg538Ser) SNV Pathogenic 632588 rs1563436265 8:38272393-38272393 8:38414875-38414875
7 FGFR1 NM_023110.2(FGFR1):c.1460G>A (p.Gly487Asp) SNV Pathogenic 132647 rs515726224 8:38275480-38275480 8:38417962-38417962
8 FGFR1 NM_023110.2(FGFR1):c.2174G>A (p.Cys725Tyr) SNV Pathogenic 66078 rs398122945 8:38271682-38271682 8:38414164-38414164
9 FGFR1 NM_023110.2(FGFR1):c.494T>C (p.Leu165Ser) SNV Pathogenic 66079 rs397515481 8:38285566-38285566 8:38428048-38428048
10 FGFR1 NM_023110.2(FGFR1):c.1867G>T (p.Asp623Tyr) SNV Pathogenic 66080 rs398122946 8:38272407-38272407 8:38414889-38414889
11 FGFR1 NM_023110.2(FGFR1):c.1884T>G (p.Asn628Lys) SNV Pathogenic 223246 rs869025672 8:38272390-38272390 8:38414872-38414872
12 FGFR1 NM_023110.2(FGFR1):c.572T>C (p.Leu191Ser) SNV Pathogenic 223243 rs869025669 8:38285488-38285488 8:38427970-38427970
13 FGFR1 NM_023110.2(FGFR1):c.1468G>C (p.Gly490Arg) SNV Pathogenic/Likely pathogenic 223244 rs869025670 8:38275472-38275472 8:38417954-38417954
14 FGFR1 NM_023110.2(FGFR1):c.1454G>T (p.Gly485Val) SNV Likely pathogenic 235085 rs876661332 8:38275486-38275486 8:38417968-38417968
15 FGFR1 NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) SNV Likely pathogenic 16299 rs121909641 8:38277238-38277238 8:38419720-38419720
16 FGFR1 NM_023110.2(FGFR1):c.1880G>C (p.Arg627Thr) SNV Conflicting interpretations of pathogenicity 223245 rs869025671 8:38272394-38272394 8:38414876-38414876
17 FGFR1 NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) SNV Uncertain significance 16289 rs121909633 8:38282064-38282064 8:38424546-38424546
18 FGFR1 NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) SNV Uncertain significance 689761 rs1260404537 8:38287269-38287269 8:38429751-38429751
19 FGFR1 NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) SNV Uncertain significance 983019 8:38275445-38275445 8:38417927-38417927
20 FGFR1 NM_023110.2(FGFR1):c.304G>A (p.Val102Ile) SNV Benign 522603 rs55642501 8:38287254-38287254 8:38429736-38429736
21 FGFR1 NM_023110.2(FGFR1):c.454G>A (p.Ala152Thr) SNV Benign 522557 rs1033377277 8:38285606-38285606 8:38428088-38428088

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

73
# 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

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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 FGFR1 FGF8
2 12.33 FGFR1 FGF8
3 12.26 FGFR1 FGF8
4
Show member pathways
12.25 FGFR1 FGF8
5
Show member pathways
12.22 FGFR1 FGF8
6
Show member pathways
12.21 FGFR1 FGF8
7
Show member pathways
12.18 FGFR1 FGF8
8
Show member pathways
12.15 FGFR1 FGF8
9 12.11 FGFR1 FGF8
10
Show member pathways
12.04 FGFR1 FGF8
11
Show member pathways
11.96 FGFR1 FGF8
12
Show member pathways
11.9 FGFR1 FGF8
13
Show member pathways
11.84 FGFR1 FGF8
14
Show member pathways
11.83 FGFR1 FGF8
15 11.78 FGFR1 FGF8
16
Show member pathways
11.78 FGFR1 FGF8
17
Show member pathways
11.73 FGFR1 FGF8
18
Show member pathways
11.61 FGFR1 FGF8
19
Show member pathways
11.46 FGFR1 FGF8
20 11.18 FGFR1 FGF8
21 11.16 FGFR1 FGF8
22
Show member pathways
10.91 FGFR1 FGF8
23 10.52 FGFR1 FGF8

GO Terms for Hartsfield Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.26 FGFR1 FGF8
2 positive regulation of protein kinase B signaling GO:0051897 9.16 FGFR1 FGF8
3 fibroblast growth factor receptor signaling pathway GO:0008543 8.96 FGFR1 FGF8
4 positive regulation of cell differentiation GO:0045597 8.62 FGFR1 FGF8

Sources for Hartsfield Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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