FLHS
MCID: FLT006
MIFTS: 52

Floating-Harbor Syndrome (FLHS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Floating-Harbor Syndrome

MalaCards integrated aliases for Floating-Harbor Syndrome:

Name: Floating-Harbor Syndrome 57 12 73 25 20 43 58 72 36 29 13 6 44 15 39 70
Flhs 57 12 43 72
Pelletier-Leisti Syndrome 20 43
Fhs 20 43
Short Stature with Delayed Bone Age, Expressive Language Delay, a Triangular Face with a Prominent Nose and Deep-Set Eyes 20
Leisti-Hollander-Rimoin Syndrome 43

Characteristics:

Orphanet epidemiological data:

58
floating-harbor syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
facial dysmorphism is age-related and alters substantially over time


HPO:

31
floating-harbor syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Floating-Harbor Syndrome

MedlinePlus Genetics : 43 Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.Growth deficiency in people with Floating-Harbor syndrome generally becomes apparent in the first year of life, and affected individuals are usually among the shortest 5 percent of their age group. Bone age is delayed in early childhood; for example, an affected 3-year-old child may have bones more typical of a child of 2. However, bone age is usually normal by age 6 to 12.Delay in speech development (expressive language delay) may be severe in Floating-Harbor syndrome, and language impairment can lead to problems in verbal communication. Most affected individuals also have mild intellectual disability. Their development of motor skills, such as sitting and crawling, is similar to that of other children their age.Typical facial features in people with Floating-Harbor syndrome include a triangular face; a low hairline; deep-set eyes; long eyelashes; a large, distinctive nose with a low-hanging separation (overhanging columella) between large nostrils; a shortened distance between the nose and upper lip (a short philtrum); and thin lips. As affected children grow and mature, the nose becomes more prominent.Additionally some affected individuals have finger abnormalities that include short fingers (brachydactyly), widened and rounded tips of the fingers (clubbing), and curved pinky fingers (fifth finger clinodactyly). Other features of Floating-Harbor syndrome can include an unusually high-pitched voice and, in males, undescended testes (cryptorchidism).

MalaCards based summary : Floating-Harbor Syndrome, also known as flhs, is related to familial isolated trichomegaly and otopalatodigital syndrome, type i. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2 Related CREBBP Activator Protein), and among its related pathways/superpathways are Chromatin organization and Chromatin Regulation / Acetylation. Affiliated tissues include bone, liver and eye, and related phenotypes are neurological speech impairment and short neck

Disease Ontology : 12 A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has material basis in heterozygous mutation in SRCAP on chromosome 16p11.2.

GARD : 20 Floating-Harbor syndrome (FHS) is named after the two hospitals that reported the first cases in the 1970s: Boston Floating Hospital and Harbor General Hospital in California. Signs and symptoms of FHS include short stature, skeletal abnormalities, delayed bone age, kidney problems, minor problems with hearing and vision, characteristic facial features, speech and language problems, and mild to moderate intellectual disabilities. Behavioral difficulties that are present in many children tend to improve with age. FHS is caused by a change ( mutation ) in the SRCAP gene and inheritance is autosomal dominant. The mutation can be inherited from a parent or can occur for the first time in a person with the syndrome. Communication issues and developmental disabilities may be helped with early intervention programs and special education.

OMIM® : 57 Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips (Lacombe et al., 1995). Rubinstein-Taybi syndrome (see 180849), which shows phenotypic overlap with Floating-Harbor syndrome, is caused by mutation in the CREBBP gene (600140), for which SRCAP is a coactivator. (136140) (Updated 20-May-2021)

KEGG : 36 Floating-Harbor syndrome is a rare syndrome characterized by short stature, characteristic face, and an expressive speech delay. Mutations in SRCAP, encoding chromatin-remodeling factor, cause this disease.

UniProtKB/Swiss-Prot : 72 Floating-Harbor syndrome: A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips.

Wikipedia : 73 Floating-Harbor syndrome, also known as Pelletier-Leisti syndrome, is a rare disease with fewer than 50... more...

GeneReviews: NBK114458

Related Diseases for Floating-Harbor Syndrome

Diseases related to Floating-Harbor Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 familial isolated trichomegaly 30.8 SRCAP CREBBP
2 otopalatodigital syndrome, type i 30.7 H2AC18 CREBBP
3 chromosome 16p13.3 deletion syndrome, proximal 30.2 SRCAP SMARCA4 SMARCA2 H2AC18 CREBBP
4 microcephaly 29.0 SRCAP SMARCA4 SMARCA2 INO80 CRIPT CREBBP
5 rubinstein-taybi syndrome 1 11.2
6 alacrima, achalasia, and mental retardation syndrome 10.3
7 growth hormone deficiency 10.3
8 schizophrenia 7 10.3 SMARCA2 H2AC18
9 celiac disease 1 10.2
10 precocious puberty 10.2
11 smarca4-deficient sarcoma of thorax 10.2 SMARCA4 SMARCA2
12 basan syndrome 10.2 SMARCA4 SMARCA2
13 juvenile type testicular granulosa cell tumor 10.2 SMARCA4 SMARCA2
14 testicular granulosa cell tumor 10.2 SMARCA4 SMARCA2
15 cryptorchidism, unilateral or bilateral 10.1
16 brachydactyly 10.1
17 intracranial aneurysm 10.1
18 hydronephrosis 10.1
19 cerebrovascular disease 10.1
20 cerebral aneurysms 10.1
21 adiaspiromycosis 10.1 SMARCA4 SMARCA2
22 coffin-siris syndrome 4 10.1 SMARCA4 H2AC18
23 developmental and epileptic encephalopathy 14 10.1 SMARCA4 SMARCA2
24 disease of mental health 10.1
25 fatty liver disease 10.1
26 alpha thalassemia-x-linked intellectual disability syndrome 10.1 SMARCA4 SMARCA2 H2AC18
27 epilepsy, familial temporal lobe, 1 10.1 SMARCA4 SMARCA2 H2AC18
28 uv-sensitive syndrome 10.1 SMARCA4 SMARCA2 H2AC18
29 rhabdoid cancer 10.1 SMARCA4 SMARCA2 H2AC18
30 kabuki syndrome 1 10.1 SMARCA4 H2AC18 CREBBP
31 immunodeficiency-centromeric instability-facial anomalies syndrome 10.1 SMARCA4 SMARCA2 H2AC18
32 schimke immunoosseous dysplasia 10.1 SMARCA4 SMARCA2
33 grange syndrome 10.0 YY1AP1 INO80
34 atherosclerosis susceptibility 10.0
35 atrial fibrillation 10.0
36 ankyloglossia with or without tooth anomalies 10.0
37 atrial standstill 1 10.0
38 gastroesophageal reflux 10.0
39 cleft palate, isolated 10.0
40 lacrimal duct defect 10.0
41 legg-calve-perthes disease 10.0
42 polycystic kidney disease 1 with or without polycystic liver disease 10.0
43 dowling-degos disease 1 10.0
44 sprengel deformity 10.0
45 strabismus 10.0
46 tetralogy of fallot 10.0
47 velocardiofacial syndrome 10.0
48 hypouricemia, renal, 1 10.0
49 moyamoya disease 1 10.0
50 pulmonic stenosis 10.0

Graphical network of the top 20 diseases related to Floating-Harbor Syndrome:



Diseases related to Floating-Harbor Syndrome

Symptoms & Phenotypes for Floating-Harbor Syndrome

Human phenotypes related to Floating-Harbor Syndrome:

58 31 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
6 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
7 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
8 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
9 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
10 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
11 nasal speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001611
12 high pitched voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001620
13 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
14 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
15 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
16 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
17 broad columella 58 31 hallmark (90%) Very frequent (99-80%) HP:0010761
18 expressive language delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0002474
19 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
20 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
21 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
22 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
23 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
24 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
25 recurrent otitis media 58 31 occasional (7.5%) Frequent (79-30%) HP:0000403
26 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
27 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
28 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
29 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
30 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
31 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
32 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
33 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
34 short clavicles 58 31 frequent (33%) Frequent (79-30%) HP:0000894
35 congenital pseudoarthrosis of the clavicle 58 31 frequent (33%) Frequent (79-30%) HP:0006585
36 enlarged joints 58 31 frequent (33%) Frequent (79-30%) HP:0003037
37 abnormal soft palate morphology 31 frequent (33%) HP:0100736
38 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
39 abnormal fingernail morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001231
40 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
41 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
42 trigonocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000243
43 congenital posterior urethral valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0010957
44 generalized cerebral atrophy/hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007058
45 inguinal hernia 31 occasional (7.5%) HP:0000023
46 umbilical hernia 31 occasional (7.5%) HP:0001537
47 cognitive impairment 31 occasional (7.5%) HP:0100543
48 cryptorchidism 31 occasional (7.5%) HP:0000028
49 atrial septal defect 31 occasional (7.5%) HP:0001631
50 coarctation of aorta 31 occasional (7.5%) HP:0001680

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Neck:
short neck
low posterior hairline

Abdomen Gastrointestinal:
celiac disease

Head And Neck Face:
triangular face

Skin Nails Hair Hair:
long eyelashes
hirsutism

Neurologic Central Nervous System:
expressive language delay
normal motor development
intellectual impairment, mild (in some patients)

Skeletal Hands:
fifth finger clinodactyly
cone-shaped epiphyses

Head And Neck Mouth:
thin lips
broad mouth
downturned mouth

Growth Other:
prenatal onset of short stature

Cardiovascular Vascular:
aortic coarctation (rare)
persistent left superior vena cava (rare)

Genitourinary External Genitalia Male:
hypospadias (rare)

Genitourinary Bladder:
posterior urethral valve (rare)

Head And Neck Nose:
smooth philtrum
prominent nose
wide columella

Skeletal Limbs:
joint laxity

Head And Neck Eyes:
long eyelashes
deep-set eyes (in early childhood)
hyperopia (in some patients)
strabismus (rare)

Head And Neck Ears:
posteriorly rotated ears
hearing loss, conductive (in some patients)
otitis media, recurrent (rare)

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)
inguinal hernia (in some patients)
epididymal cysts, bilateral (rare)
varicocele (rare)

Skeletal:
delayed bone age

Growth Height:
short stature (-4 to -6 s.d. below mean)

Cardiovascular Heart:
atrial septal defect (rare)
mesocardia (rare)

Abdomen External Features:
umbilical hernia (rare)

Genitourinary Kidneys:
hydronephrosis (rare)
nephrocalcinosis (rare)
unilateral renal pelviectasis (rare)

Laboratory Abnormalities:
normal endocrinologic studies (growth hormone, somatomedin c, thyroid function)

Clinical features from OMIM®:

136140 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Floating-Harbor Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.36 ADNP CREBBP CRIPT GATC H2AZ1 INO80

Drugs & Therapeutics for Floating-Harbor Syndrome

Search Clinical Trials , NIH Clinical Center for Floating-Harbor Syndrome

Cochrane evidence based reviews: floating-harbor syndrome

Genetic Tests for Floating-Harbor Syndrome

Genetic tests related to Floating-Harbor Syndrome:

# Genetic test Affiliating Genes
1 Floating-Harbor Syndrome 29 SRCAP

Anatomical Context for Floating-Harbor Syndrome

MalaCards organs/tissues related to Floating-Harbor Syndrome:

40
Bone, Liver, Eye, Heart, Testes, Spinal Cord, Kidney

Publications for Floating-Harbor Syndrome

Articles related to Floating-Harbor Syndrome:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. 6 57 25 61
23763483 2014
2
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. 61 6 57 25
22965468 2013
3
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. 61 6 25 57
22265015 2012
4
The phenotype of Floating-Harbor syndrome in 10 patients. 57 6 61
20358590 2010
5
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 61 6 25
23621943 2013
6
Perthes disease: A new finding in Floating-Harbor syndrome. 20 25 61
29383823 2018
7
Floating-Harbor Syndrome 6 61
23193612 2012
8
Floating-Harbor syndrome associated with middle ear abnormalities. 57 61
20014123 2010
9
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. 57 61
19764022 2009
10
Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. 57 61
18978661 2008
11
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. 61 57
16523514 2006
12
Floating-Harbor syndrome: a first female Turkish patient? 61 57
17375535 2006
13
Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy. 57 61
15889416 2005
14
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. 61 57
15378536 2004
15
A variant example of familial Floating-Harbor syndrome? 61 57
12725587 2003
16
Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? 61 57
14738118 2003
17
Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. 61 57
11746027 2001
18
Changing phenotype in Floating-Harbor syndrome. 61 57
9508066 1998
19
Floating Harbor syndrome. Case report and further syndrome delineation. 57 61
9401100 1997
20
Two more diagnostic signs in the Floating-Harbor syndrome. 57 61
8867666 1996
21
Floating-Harbor syndrome. A neuropsychological approach. 61 57
8985732 1996
22
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. 61 57
8831134 1996
23
Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. 61 57
7588969 1995
24
Further observations on the Floating-Harbor syndrome. 57 61
8055134 1994
25
Floating-Harbor syndrome. 57 61
2051457 1991
26
Floating-Harbor syndrome and celiac disease. 57 61
2063899 1991
27
The Floating-Harbor syndrome. 57 61
2029915 1991
28
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). 61 57
3171794 1988
29
Renal Calculus in Floating-Harbor Syndrome: A Case Report. 25 61
30205917 2019
30
The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing. 61 25
30304910 2018
31
Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a SRCAP Mutation and Review of the Literature. 61 25
30425916 2018
32
A novel finding of oligodontia and ankyloglossia in a 14-year-old with Floating-Harbor syndrome. 25 61
29210485 2017
33
Treatment of Moyamoya Disease and Unruptured Intracranial Aneurysm in Floating-Harbor Syndrome. 61 25
28549641 2017
34
When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome. 61 20
27208210 2016
35
The defining DNA methylation signature of Floating-Harbor Syndrome. 25 61
27934915 2016
36
Floating Harbor Syndrome. 61 25
27206688 2016
37
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. 61 25
25433523 2014
38
The human SRCAP chromatin remodeling complex promotes DNA-end resection. 61 25
25176633 2014
39
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. 25 61
24375913 2014
40
Regulation of cAMP-responsive element-binding protein-mediated transcription by the SNF2/SWI-related protein, SRCAP. 6
11522779 2001
41
Timing, rates and spectra of human germline mutation. 25
26656846 2016
42
Mutations of Chromatin Structure Regulating Genes in Human Malignancies. 25
26796307 2016
43
Generation of an induced pluripotent stem cell line from a Chinese Han infant with floating-harbor syndrome accompanied with dilated cardiomyopathy. 61
33517121 2021
44
Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature. 61
33776628 2021
45
Protective effect of the new prepared Atractylodes macrocephala Koidz polysaccharide on fatty liver hemorrhagic syndrome in laying hens. 61
33518147 2021
46
Integrated analysis of the methylome and transcriptome of chickens with fatty liver hemorrhagic syndrome. 61
33407101 2021
47
Osteocalcin prevents insulin resistance, hepatic inflammation, and activates autophagy associated with high-fat diet-induced fatty liver hemorrhagic syndrome in aged laying hens. 61
33357709 2021
48
Effect of JAK-STAT pathway in regulation of fatty liver hemorrhagic syndrome in chickens. 61
32106651 2021
49
Serum Metabolomic Profiling to Reveal Potential Biomarkers for the Diagnosis of Fatty Liver Hemorrhagic Syndrome in Laying Hens. 61
33633583 2021
50
Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444). 61
33099107 2020

Variations for Floating-Harbor Syndrome

ClinVar genetic disease variations for Floating-Harbor Syndrome:

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SRCAP NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) SNV Pathogenic 30908 rs199469464 GRCh37: 16:30748691-30748691
GRCh38: 16:30737370-30737370
2 SRCAP NM_006662.3(SRCAP):c.7549del (p.Gln2517fs) Deletion Pathogenic 30910 rs199469466 GRCh37: 16:30748908-30748908
GRCh38: 16:30737587-30737587
3 SRCAP NM_006662.3(SRCAP):c.7863dup (p.Gln2622fs) Duplication Pathogenic 39978 rs587776938 GRCh37: 16:30749223-30749224
GRCh38: 16:30737902-30737903
4 SRCAP NM_006662.3(SRCAP):c.7000C>T (p.Gln2334Ter) SNV Pathogenic 144049 rs587777656 GRCh37: 16:30747937-30747937
GRCh38: 16:30736616-30736616
5 SRCAP NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter) SNV Pathogenic 160038 rs587784444 GRCh37: 16:30749354-30749354
GRCh38: 16:30738033-30738033
6 SRCAP NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter) SNV Pathogenic 998019 GRCh37: 16:30748550-30748550
GRCh38: 16:30737229-30737229
7 SRCAP NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter) SNV Pathogenic 988731 GRCh37: 16:30748580-30748580
GRCh38: 16:30737259-30737259
8 SRCAP NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) SNV Pathogenic 30909 rs199469465 GRCh37: 16:30748664-30748664
GRCh38: 16:30737343-30737343
9 SRCAP NM_006662.3(SRCAP):c.7287C>A (p.Cys2429Ter) SNV Pathogenic 689791 rs758972811 GRCh37: 16:30748648-30748648
GRCh38: 16:30737327-30737327
10 SRCAP NM_006662.3(SRCAP):c.1073A>G (p.Asp358Gly) SNV Uncertain significance 996887 GRCh37: 16:30721388-30721388
GRCh38: 16:30710067-30710067
11 SRCAP NM_006662.3(SRCAP):c.5704G>A (p.Glu1902Lys) SNV Uncertain significance 930450 GRCh37: 16:30740332-30740332
GRCh38: 16:30729011-30729011
12 SRCAP NM_006662.3(SRCAP):c.3287C>A (p.Thr1096Asn) SNV Uncertain significance 982650 GRCh37: 16:30732543-30732543
GRCh38: 16:30721222-30721222
13 SRCAP NM_006662.3(SRCAP):c.1429T>A (p.Cys477Ser) SNV Uncertain significance 1030124 GRCh37: 16:30723002-30723002
GRCh38: 16:30711681-30711681
14 SRCAP NM_006662.3(SRCAP):c.196G>A (p.Gly66Ser) SNV Uncertain significance 1030125 GRCh37: 16:30715526-30715526
GRCh38: 16:30704205-30704205
15 SRCAP NM_006662.3(SRCAP):c.4105A>T (p.Thr1369Ser) SNV Uncertain significance 1030126 GRCh37: 16:30734496-30734496
GRCh38: 16:30723175-30723175
16 SRCAP NM_006662.3(SRCAP):c.5042T>C (p.Leu1681Pro) SNV Uncertain significance 1030127 GRCh37: 16:30735787-30735787
GRCh38: 16:30724466-30724466
17 SRCAP NM_006662.3(SRCAP):c.5813C>G (p.Pro1938Arg) SNV Uncertain significance 1030128 GRCh37: 16:30740441-30740441
GRCh38: 16:30729120-30729120
18 SRCAP NM_006662.3(SRCAP):c.954G>T (p.Arg318Ser) SNV Uncertain significance 1030129 GRCh37: 16:30721269-30721269
GRCh38: 16:30709948-30709948
19 SRCAP NM_006662.3(SRCAP):c.2125C>T (p.Arg709Trp) SNV Uncertain significance 1033131 GRCh37: 16:30724131-30724131
GRCh38: 16:30712810-30712810
20 SRCAP NM_006662.3(SRCAP):c.316A>G (p.Ile106Val) SNV Uncertain significance 1033132 GRCh37: 16:30718513-30718513
GRCh38: 16:30707192-30707192
21 SRCAP NM_006662.3(SRCAP):c.3721C>T (p.Leu1241Phe) SNV Uncertain significance 1033133 GRCh37: 16:30733898-30733898
GRCh38: 16:30722577-30722577
22 SRCAP NM_006662.3(SRCAP):c.*342del Deletion Uncertain significance 318925 rs886051909 GRCh37: 16:30751396-30751396
GRCh38: 16:30740075-30740075
23 SRCAP NM_006662.3(SRCAP):c.132C>T (p.Gly44=) SNV Uncertain significance 160032 rs149628651 GRCh37: 16:30715462-30715462
GRCh38: 16:30704141-30704141
24 SRCAP NM_006662.3(SRCAP):c.2300+10dup Duplication Uncertain significance 318866 rs557150142 GRCh37: 16:30724706-30724707
GRCh38: 16:30713385-30713386
25 SRCAP NM_006662.3(SRCAP):c.*358del Deletion Uncertain significance 318926 rs397854666 GRCh37: 16:30751397-30751397
GRCh38: 16:30740076-30740076
26 SRCAP NM_006662.3(SRCAP):c.6729+9dup Duplication Uncertain significance 225482 rs770423372 GRCh37: 16:30745938-30745939
GRCh38: 16:30734617-30734618
27 SRCAP NM_006662.3(SRCAP):c.4557_4560del (p.Gln1519fs) Deletion Uncertain significance 562213 rs1567248015 GRCh37: 16:30735300-30735303
GRCh38: 16:30723979-30723982
28 SRCAP NM_006662.3(SRCAP):c.7681C>G (p.Pro2561Ala) SNV Uncertain significance 617612 rs1215921344 GRCh37: 16:30749042-30749042
GRCh38: 16:30737721-30737721
29 SRCAP NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu) SNV Uncertain significance 197283 rs183497403 GRCh37: 16:30715392-30715392
GRCh38: 16:30704071-30704071
30 SRCAP NM_006662.3(SRCAP):c.9044C>T (p.Pro3015Leu) SNV Uncertain significance 635038 rs1567254950 GRCh37: 16:30750405-30750405
GRCh38: 16:30739084-30739084
31 SRCAP NM_006662.3(SRCAP):c.2752A>C (p.Thr918Pro) SNV Likely benign 803249 rs756223991 GRCh37: 16:30727735-30727735
GRCh38: 16:30716414-30716414
32 SRCAP NM_006662.3(SRCAP):c.5598_5600del (p.Phe1867del) Deletion Likely benign 318888 rs565950672 GRCh37: 16:30736343-30736345
GRCh38: 16:30725022-30725024
33 SRCAP NM_006662.3(SRCAP):c.*243C>T SNV Likely benign 318924 rs577624873 GRCh37: 16:30751297-30751297
GRCh38: 16:30739976-30739976
34 SRCAP NM_006662.3(SRCAP):c.8500G>A (p.Gly2834Arg) SNV Likely benign 318905 rs146421389 GRCh37: 16:30749861-30749861
GRCh38: 16:30738540-30738540
35 SRCAP NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly) SNV Likely benign 260020 rs117480926 GRCh37: 16:30740333-30740333
GRCh38: 16:30729012-30729012
36 SRCAP NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) SNV Likely benign 260017 rs149248373 GRCh37: 16:30732558-30732558
GRCh38: 16:30721237-30721237
37 SRCAP NM_006662.3(SRCAP):c.7993C>G (p.Gln2665Glu) SNV Likely benign 982905 GRCh37: 16:30749354-30749354
GRCh38: 16:30738033-30738033

Expression for Floating-Harbor Syndrome

Search GEO for disease gene expression data for Floating-Harbor Syndrome.

Pathways for Floating-Harbor Syndrome

Pathways related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 SMARCA4 SMARCA2 H2AZ1 H2AC18 CREBBP
2 11.96 SMARCA4 SMARCA2 H2AZ1 CREBBP
3 11.22 SMARCA2 H2AZ1 CREBBP
4
Show member pathways
10.98 SMARCA4 SMARCA2 CREBBP
5 10.71 SMARCA4 CREBBP
6 10.62 SRCAP SMARCA2 CREBBP

GO Terms for Floating-Harbor Syndrome

Cellular components related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.1 ZNHIT1 YY1AP1 SRCAP SMARCA4 SMARCA2 PHF14
2 chromatin GO:0000785 9.88 SMARCA4 SMARCA2 H2AZ1 H2AC18 CREBBP ADNP
3 SWI/SNF complex GO:0016514 9.37 SMARCA4 SMARCA2
4 Ino80 complex GO:0031011 9.26 YY1AP1 INO80
5 nBAF complex GO:0071565 9.16 SMARCA4 SMARCA2
6 Swr1 complex GO:0000812 8.96 ZNHIT1 SRCAP
7 npBAF complex GO:0071564 8.62 SMARCA4 SMARCA2

Biological processes related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 beta-catenin-TCF complex assembly GO:1904837 9.26 SMARCA4 CREBBP
2 chromatin remodeling GO:0006338 9.26 ZNHIT1 SMARCA4 SMARCA2 INO80
3 histone exchange GO:0043486 9.16 ZNHIT1 SRCAP
4 ATP-dependent chromatin remodeling GO:0043044 8.92 SRCAP SMARCA4 SMARCA2 INO80

Molecular functions related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.01 SRCAP SMARCA4 SMARCA2 INO80 H2AZ1 H2AC18
2 ATP binding GO:0005524 9.91 SRCAP SMARCA4 SMARCA2 INO80 GATC CHD9
3 ATPase activity GO:0016887 9.67 SRCAP SMARCA4 SMARCA2 INO80
4 transcription corepressor activity GO:0003714 9.63 YY1AP1 SMARCA4 CREBBP
5 transcription coactivator activity GO:0003713 9.62 SRCAP SMARCA4 SMARCA2 CREBBP
6 helicase activity GO:0004386 9.56 SRCAP SMARCA4 SMARCA2 CHD9
7 histone binding GO:0042393 9.35 SRCAP SMARCA4 SMARCA2 PHF14 INO80
8 DNA-dependent ATPase activity GO:0008094 9.33 SMARCA4 SMARCA2 INO80
9 hydrolase activity, acting on acid anhydrides GO:0016817 8.8 SMARCA4 SMARCA2 CHD9

Sources for Floating-Harbor 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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