FLHS
MCID: FLT006
MIFTS: 44

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 58 77 25 54 26 60 76 38 30 13 6 41 74
Flhs 58 26 76
Pelletier-Leisti Syndrome 54 26
Fhs 54 26
Short Stature with Delayed Bone Age, Expressive Language Delay, a Triangular Face with a Prominent Nose and Deep-Set Eyes 54
Leisti-Hollander-Rimoin Syndrome 26

Characteristics:

Orphanet epidemiological data:

60
floating-harbor syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
floating-harbor syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Floating-Harbor Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Floating-Harbor Syndrome, also known as flhs, is related to hyperaldosteronism, familial, type ii and hyperaldosteronism, familial, type iii. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2 Related CREBBP Activator Protein), and among its related pathways/superpathways is Pathways Affected in Adenoid Cystic Carcinoma. Affiliated tissues include bone, eye and kidney, and related phenotypes are short neck and neurological speech impairment

Genetics Home Reference : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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 75)
# Related Disease Score Top Affiliating Genes
1 hyperaldosteronism, familial, type ii 12.3
2 hyperaldosteronism, familial, type iii 12.1
3 hypercholesterolemia, familial 11.8
4 hereditary leiomyomatosis and renal cell cancer 11.6
5 rubinstein-taybi syndrome 1 11.4
6 fumarase deficiency 11.4
7 renal cell carcinoma, papillary, 1 11.4
8 familial hyperaldosteronism 11.4
9 hyperaldosteronism, familial, type i 11.4
10 hyperaldosteronism, familial, type iv 11.2
11 leiomyomatosis 10.4
12 intravenous leiomyomatosis 10.4
13 renal cell carcinoma, nonpapillary 10.4
14 multiple sclerosis 10.3
15 fatty liver disease 10.3
16 growth hormone deficiency 10.2
17 blood group, junior system 10.1
18 fumarate hydratase deficiency 10.1
19 homozygous familial hypercholesterolemia 10.1
20 pheochromocytoma 10.1
21 adrenal gland pheochromocytoma 10.1
22 ankyloglossia 10.0
23 legg-calve-perthes disease 10.0
24 velocardiofacial syndrome 10.0
25 celiac disease 1 10.0
26 moyamoya disease 1 10.0
27 tooth agenesis 10.0
28 intracranial aneurysm 10.0
29 ganglioglioma 10.0
30 microcephaly 10.0
31 precocious puberty 10.0
32 cerebral aneurysms 10.0
33 alcohol dependence 10.0
34 prostate cancer 10.0
35 prostate cancer, hereditary, 8 10.0
36 hypercholesterolemia, autosomal recessive 10.0
37 coronary heart disease 1 10.0
38 prostate cancer, hereditary, 6 10.0
39 nevus comedonicus 10.0
40 paraganglioma 10.0
41 heart disease 10.0
42 periodontal disease 10.0
43 chromophil renal cell carcinoma 10.0
44 depression 10.0
45 breast cancer 9.8
46 li-fraumeni syndrome 9.8
47 systemic lupus erythematosus 9.8
48 ring dermoid of cornea 9.8
49 laron syndrome 9.8
50 thymoma, familial 9.8

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:

60 33 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
3 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
4 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
5 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
6 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
7 broad thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0011304
8 wide mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000154
9 short philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000322
10 bulbous nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000414
11 nasal speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0001611
12 thin vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0000233
13 long eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000527
14 high pitched voice 60 33 hallmark (90%) Very frequent (99-80%) HP:0001620
15 prominent nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000448
16 broad columella 60 33 hallmark (90%) Very frequent (99-80%) HP:0010761
17 expressive language delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0002474
18 posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000358
19 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
20 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
21 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
22 malabsorption 60 33 frequent (33%) Frequent (79-30%) HP:0002024
23 feeding difficulties in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0008872
24 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
25 generalized hirsutism 60 33 frequent (33%) Frequent (79-30%) HP:0002230
26 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
27 recurrent otitis media 60 33 occasional (7.5%) Frequent (79-30%) HP:0000403
28 underdeveloped nasal alae 60 33 frequent (33%) Frequent (79-30%) HP:0000430
29 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
30 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
31 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
32 triangular face 60 33 frequent (33%) Frequent (79-30%) HP:0000325
33 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
34 short clavicles 60 33 frequent (33%) Frequent (79-30%) HP:0000894
35 enlarged joints 60 33 frequent (33%) Frequent (79-30%) HP:0003037
36 congenital pseudoarthrosis of the clavicle 60 33 frequent (33%) Frequent (79-30%) HP:0006585
37 abnormal soft palate morphology 33 frequent (33%) HP:0100736
38 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
39 telecanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000506
40 trigonocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000243
41 hypoplasia of penis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008736
42 congenital posterior urethral valve 60 33 occasional (7.5%) Occasional (29-5%) HP:0010957
43 generalized cerebral atrophy/hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0007058
44 inguinal hernia 33 occasional (7.5%) HP:0000023
45 umbilical hernia 33 occasional (7.5%) HP:0001537
46 cognitive impairment 33 occasional (7.5%) HP:0100543
47 cryptorchidism 33 occasional (7.5%) HP:0000028
48 atrial septal defect 33 occasional (7.5%) HP:0001631
49 coarctation of aorta 33 occasional (7.5%) HP:0001680
50 hypospadias 33 occasional (7.5%) HP:0000047

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck
low posterior hairline

Abdomen Gastrointestinal:
celiac disease

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

Head And Neck Face:
triangular face

Head And Neck Ears:
posteriorly rotated ears
hearing loss, conductive (in some patients)
otitis media, recurrent (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 Internal Genitalia Male:
inguinal hernia (in some patients)
cryptorchidism (in some patients)
epididymal cysts, bilateral (rare)
varicocele (rare)

Genitourinary Bladder:
posterior urethral valves (rare)

Head And Neck Nose:
smooth philtrum
prominent nose
wide columella

Skeletal Limbs:
joint laxity

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 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

Drugs & Therapeutics for Floating-Harbor Syndrome

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

Genetic Tests for Floating-Harbor Syndrome

Genetic tests related to Floating-Harbor Syndrome:

# Genetic test Affiliating Genes
1 Floating-Harbor Syndrome 30 SRCAP

Anatomical Context for Floating-Harbor Syndrome

MalaCards organs/tissues related to Floating-Harbor Syndrome:

42
Bone, Eye, Kidney, Heart, Prostate, Liver, Thyroid

Publications for Floating-Harbor Syndrome

Articles related to Floating-Harbor Syndrome:

(show top 50) (show all 62)
# Title Authors Year
1
Renal Calculus in Floating-Harbor Syndrome: A Case Report. ( 30205917 )
2019
2
Perthes disease: A new finding in Floating-Harbor syndrome. ( 29383823 )
2018
3
The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing. ( 30304910 )
2018
4
Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a SRCAP Mutation and Review of the Literature. ( 30425916 )
2018
5
A novel finding of oligodontia and ankyloglossia in a 14-year-old with Floating-Harbor syndrome. ( 29210485 )
2017
6
Treatment of Moyamoya Disease and Unruptured Intracranial Aneurysm in Floating-Harbor Syndrome. ( 28549641 )
2017
7
In vitro Investigation of Metabolic Profiling of a Potent Topoisomerase Inhibitors Fluorescein Hydrazones (FLHs) in RLMs by LC-MS/MS. ( 28415021 )
2017
8
Floating Harbor Syndrome. ( 27206688 )
2016
9
When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome. ( 27208210 )
2016
10
Chiari I malformation as part of the Floating-Harbor syndrome? ( 27815143 )
2016
11
The defining DNA methylation signature of Floating-Harbor Syndrome. ( 27934915 )
2016
12
Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. ( 23763483 )
2014
13
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. ( 24375913 )
2014
14
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. ( 25433523 )
2014
15
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. ( 22965468 )
2013
16
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. ( 23621943 )
2013
17
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. ( 21955542 )
2012
18
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. ( 22247066 )
2012
19
Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome. ( 22263687 )
2012
20
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. ( 22265015 )
2012
21
Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. ( 22570979 )
2012
22
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. ( 23165645 )
2012
23
Growth hormone deficiency: an unusual presentation of floating harbor syndrome. ( 22001135 )
2011
24
Floating-Harbor syndrome associated with middle ear abnormalities. ( 20014123 )
2010
25
Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. ( 20185146 )
2010
26
Commentary: The second step in syndrome delineation: who belongs and who does not? Thoughts generated by the paper on Floating-Harbor syndrome by White and colleagues. ( 20358589 )
2010
27
The phenotype of Floating-Harbor syndrome in 10 patients. ( 20358590 )
2010
28
Ocular abnormalities in Floating-Harbor syndrome. ( 19393524 )
2009
29
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. ( 19764022 )
2009
30
Floating-Harbor syndrome: case report. ( 18449141 )
2008
31
Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. ( 18978661 )
2008
32
Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. ( 17955782 )
2007
33
Precocious puberty in a girl with floating-harbor syndrome. ( 18341094 )
2007
34
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. ( 16523514 )
2006
35
Floating-Harbor syndrome: a first female Turkish patient? ( 17375535 )
2006
36
Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy. ( 15889416 )
2005
37
First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly. ( 15119008 )
2004
38
Floating-Harbor syndrome: case report and craniofacial phenotype characterization. ( 15139957 )
2004
39
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. ( 15378536 )
2004
40
A variant example of familial Floating-Harbor syndrome? ( 12725587 )
2003
41
Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? ( 14738118 )
2003
42
Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. ( 11883867 )
2002
43
Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. ( 11746027 )
2001
44
[Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency]. ( 11995206 )
2000
45
Oral Language Development in a Child With Floating-Harbor Syndrome. ( 27764282 )
1999
46
Changing phenotype in Floating-Harbor syndrome. ( 9508066 )
1998
47
A further report on a case of Floating-Harbor Syndrome in a mother and daughter. ( 9892052 )
1998
48
Floating Harbor syndrome. Case report and further syndrome delineation. ( 9401100 )
1997
49
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. ( 8831134 )
1996
50
Two more diagnostic signs in the Floating-Harbor syndrome. ( 8867666 )
1996

Variations for Floating-Harbor Syndrome

ClinVar genetic disease variations for Floating-Harbor Syndrome:

6 (show top 50) (show all 212)
# Gene Variation Type Significance SNP ID Assembly Location
1 SRCAP NM_006662.2(SRCAP): c.7330C> T (p.Arg2444Ter) single nucleotide variant Pathogenic rs199469464 GRCh37 Chromosome 16, 30748691: 30748691
2 SRCAP NM_006662.2(SRCAP): c.7330C> T (p.Arg2444Ter) single nucleotide variant Pathogenic rs199469464 GRCh38 Chromosome 16, 30737370: 30737370
3 SRCAP NM_006662.2(SRCAP): c.7303C> T (p.Arg2435Ter) single nucleotide variant Pathogenic rs199469465 GRCh37 Chromosome 16, 30748664: 30748664
4 SRCAP NM_006662.2(SRCAP): c.7303C> T (p.Arg2435Ter) single nucleotide variant Pathogenic rs199469465 GRCh38 Chromosome 16, 30737343: 30737343
5 SRCAP NM_006662.2(SRCAP): c.7549delC (p.Gln2517Lysfs) deletion Pathogenic rs199469466 GRCh38 Chromosome 16, 30737589: 30737589
6 SRCAP NM_006662.2(SRCAP): c.7549delC (p.Gln2517Lysfs) deletion Pathogenic rs199469466 GRCh37 Chromosome 16, 30748910: 30748910
7 SRCAP NM_006662.2(SRCAP): c.7863dupG (p.Gln2622Alafs) duplication Pathogenic rs587776938 GRCh38 Chromosome 16, 30737903: 30737903
8 SRCAP NM_006662.2(SRCAP): c.7863dupG (p.Gln2622Alafs) duplication Pathogenic rs587776938 GRCh37 Chromosome 16, 30749224: 30749224
9 SRCAP NM_006662.2(SRCAP): c.7000C> T (p.Gln2334Ter) single nucleotide variant Pathogenic rs587777656 GRCh38 Chromosome 16, 30736616: 30736616
10 SRCAP NM_006662.2(SRCAP): c.7000C> T (p.Gln2334Ter) single nucleotide variant Pathogenic rs587777656 GRCh37 Chromosome 16, 30747937: 30747937
11 SRCAP NM_006662.2(SRCAP): c.132C> T (p.Gly44=) single nucleotide variant Conflicting interpretations of pathogenicity rs149628651 GRCh37 Chromosome 16, 30715462: 30715462
12 SRCAP NM_006662.2(SRCAP): c.132C> T (p.Gly44=) single nucleotide variant Conflicting interpretations of pathogenicity rs149628651 GRCh38 Chromosome 16, 30704141: 30704141
13 SRCAP NM_006662.2(SRCAP): c.189C> G (p.Pro63=) single nucleotide variant Benign rs79656879 GRCh37 Chromosome 16, 30715519: 30715519
14 SRCAP NM_006662.2(SRCAP): c.189C> G (p.Pro63=) single nucleotide variant Benign rs79656879 GRCh38 Chromosome 16, 30704198: 30704198
15 SRCAP NM_006662.2(SRCAP): c.4293C> G (p.Val1431=) single nucleotide variant Benign/Likely benign rs79597785 GRCh37 Chromosome 16, 30735038: 30735038
16 SRCAP NM_006662.2(SRCAP): c.4293C> G (p.Val1431=) single nucleotide variant Benign/Likely benign rs79597785 GRCh38 Chromosome 16, 30723717: 30723717
17 SRCAP NM_006662.2(SRCAP): c.4603C> G (p.Pro1535Ala) single nucleotide variant Benign/Likely benign rs117804715 GRCh37 Chromosome 16, 30735348: 30735348
18 SRCAP NM_006662.2(SRCAP): c.4603C> G (p.Pro1535Ala) single nucleotide variant Benign/Likely benign rs117804715 GRCh38 Chromosome 16, 30724027: 30724027
19 SRCAP NM_006662.2(SRCAP): c.7263C> A (p.Arg2421=) single nucleotide variant Benign/Likely benign rs74947321 GRCh37 Chromosome 16, 30748624: 30748624
20 SRCAP NM_006662.2(SRCAP): c.7263C> A (p.Arg2421=) single nucleotide variant Benign/Likely benign rs74947321 GRCh38 Chromosome 16, 30737303: 30737303
21 SRCAP NM_006662.2(SRCAP): c.7993C> T (p.Gln2665Ter) single nucleotide variant Pathogenic rs587784444 GRCh37 Chromosome 16, 30749354: 30749354
22 SRCAP NM_006662.2(SRCAP): c.7993C> T (p.Gln2665Ter) single nucleotide variant Pathogenic rs587784444 GRCh38 Chromosome 16, 30738033: 30738033
23 SRCAP NM_006662.2(SRCAP): c.8755C> T (p.Leu2919Phe) single nucleotide variant Likely benign rs149217909 GRCh37 Chromosome 16, 30750116: 30750116
24 SRCAP NM_006662.2(SRCAP): c.8755C> T (p.Leu2919Phe) single nucleotide variant Likely benign rs149217909 GRCh38 Chromosome 16, 30738795: 30738795
25 SRCAP NM_006662.2(SRCAP): c.3388C> T (p.Pro1130Ser) single nucleotide variant Benign/Likely benign rs143519723 GRCh37 Chromosome 16, 30732644: 30732644
26 SRCAP NM_006662.2(SRCAP): c.3388C> T (p.Pro1130Ser) single nucleotide variant Benign/Likely benign rs143519723 GRCh38 Chromosome 16, 30721323: 30721323
27 SRCAP NM_006662.2(SRCAP): c.4355C> T (p.Ser1452Leu) single nucleotide variant Uncertain significance rs200175704 GRCh37 Chromosome 16, 30735100: 30735100
28 SRCAP NM_006662.2(SRCAP): c.4355C> T (p.Ser1452Leu) single nucleotide variant Uncertain significance rs200175704 GRCh38 Chromosome 16, 30723779: 30723779
29 SRCAP NM_006662.2(SRCAP): c.9444T> C (p.Ser3148=) single nucleotide variant Benign/Likely benign rs142948420 GRCh37 Chromosome 16, 30750805: 30750805
30 SRCAP NM_006662.2(SRCAP): c.9444T> C (p.Ser3148=) single nucleotide variant Benign/Likely benign rs142948420 GRCh38 Chromosome 16, 30739484: 30739484
31 SRCAP NM_006662.2(SRCAP): c.62C> T (p.Ser21Leu) single nucleotide variant Uncertain significance rs183497403 GRCh37 Chromosome 16, 30715392: 30715392
32 SRCAP NM_006662.2(SRCAP): c.62C> T (p.Ser21Leu) single nucleotide variant Uncertain significance rs183497403 GRCh38 Chromosome 16, 30704071: 30704071
33 SRCAP NM_006662.2(SRCAP): c.1559G> A (p.Ser520Asn) single nucleotide variant Benign/Likely benign rs139339184 GRCh38 Chromosome 16, 30711901: 30711901
34 SRCAP NM_006662.2(SRCAP): c.1559G> A (p.Ser520Asn) single nucleotide variant Benign/Likely benign rs139339184 GRCh37 Chromosome 16, 30723222: 30723222
35 SRCAP NM_006662.2(SRCAP): c.3868A> G (p.Ser1290Gly) single nucleotide variant Benign/Likely benign rs150246733 GRCh37 Chromosome 16, 30734045: 30734045
36 SRCAP NM_006662.2(SRCAP): c.3868A> G (p.Ser1290Gly) single nucleotide variant Benign/Likely benign rs150246733 GRCh38 Chromosome 16, 30722724: 30722724
37 SRCAP NM_006662.2(SRCAP): c.6729+2_6729+3insA duplication Uncertain significance rs770423372 GRCh37 Chromosome 16, 30745939: 30745939
38 SRCAP NM_006662.2(SRCAP): c.6729+2_6729+3insA duplication Uncertain significance rs770423372 GRCh38 Chromosome 16, 30734618: 30734618
39 SRCAP NM_006662.2(SRCAP): c.3302C> A (p.Thr1101Lys) single nucleotide variant Benign/Likely benign rs149248373 GRCh38 Chromosome 16, 30721237: 30721237
40 SRCAP NM_006662.2(SRCAP): c.3302C> A (p.Thr1101Lys) single nucleotide variant Benign/Likely benign rs149248373 GRCh37 Chromosome 16, 30732558: 30732558
41 SRCAP NM_006662.2(SRCAP): c.5705A> G (p.Glu1902Gly) single nucleotide variant Benign/Likely benign rs117480926 GRCh38 Chromosome 16, 30729012: 30729012
42 SRCAP NM_006662.2(SRCAP): c.5705A> G (p.Glu1902Gly) single nucleotide variant Benign/Likely benign rs117480926 GRCh37 Chromosome 16, 30740333: 30740333
43 SRCAP NM_006662.2(SRCAP): c.5420C> T (p.Ala1807Val) single nucleotide variant Likely benign rs150467782 GRCh37 Chromosome 16, 30736165: 30736165
44 SRCAP NM_006662.2(SRCAP): c.5420C> T (p.Ala1807Val) single nucleotide variant Likely benign rs150467782 GRCh38 Chromosome 16, 30724844: 30724844
45 SRCAP NM_006662.2(SRCAP): c.4563T> A (p.Pro1521=) single nucleotide variant Benign/Likely benign rs138541811 GRCh37 Chromosome 16, 30735308: 30735308
46 SRCAP NM_006662.2(SRCAP): c.4563T> A (p.Pro1521=) single nucleotide variant Benign/Likely benign rs138541811 GRCh38 Chromosome 16, 30723987: 30723987
47 SRCAP NM_006662.2(SRCAP): c.-379G> A single nucleotide variant Likely benign rs535033024 GRCh38 Chromosome 16, 30699147: 30699147
48 SRCAP NM_006662.2(SRCAP): c.-379G> A single nucleotide variant Likely benign rs535033024 GRCh37 Chromosome 16, 30710468: 30710468
49 SRCAP NM_006662.2(SRCAP): c.67G> A (p.Gly23Ser) single nucleotide variant Likely benign rs138333984 GRCh38 Chromosome 16, 30704076: 30704076
50 SRCAP NM_006662.2(SRCAP): c.67G> A (p.Gly23Ser) single nucleotide variant Likely benign rs138333984 GRCh37 Chromosome 16, 30715397: 30715397

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 10.44 CREBBP SRCAP

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 nuclear body GO:0016604 8.62 CREBBP SRCAP

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

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 8.96 CREBBP SRCAP
2 histone acetylation GO:0016573 8.62 CREBBP SRCAP

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

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 8.96 CREBBP SRCAP
2 histone acetyltransferase activity GO:0004402 8.62 CREBBP SRCAP

Sources for Floating-Harbor 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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