MCID: FLT006
MIFTS: 44

Floating-Harbor Syndrome

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

Aliases & Classifications for Floating-Harbor Syndrome

MalaCards integrated aliases for Floating-Harbor Syndrome:

Name: Floating-Harbor Syndrome 57 76 24 53 25 59 75 37 29 13 6 40 73
Flhs 57 25 75
Pelletier-Leisti Syndrome 53 25
Fhs 53 25
Short Stature with Delayed Bone Age, Expressive Language Delay, a Triangular Face with a Prominent Nose and Deep-Set Eyes 53
Leisti-Hollander-Rimoin Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
floating-harbor syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
floating-harbor syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Floating-Harbor Syndrome

NIH Rare Diseases : 53 Floating-Harbor syndrome (FHS) is named after the two hospitals that reported the first cases in the 1970's: Boston Floating Hospital and Harbor General Hospital in California. Signs and symptoms of FHS include short stature, skeletal abnormalities, delayed bone age, characteristic facial features, speech and language problems, and mild to moderate intellectual disability. Behavioral difficulties that are present in many children tend to improve with age. FHS is caused by a change (mutation) in the SRCAP gene. The mutation can be inherited from a parent or can occur for the first time in an affected individual. 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 heart, and related phenotypes are short neck and intellectual disability

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)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

Wikipedia : 76 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 all 50)
# Related Disease Score Top Affiliating Genes
1 hyperaldosteronism, familial, type ii 12.0
2 hyperaldosteronism, familial, type iii 11.9
3 hypercholesterolemia, familial 11.5
4 hereditary leiomyomatosis and renal cell cancer 11.4
5 rubinstein-taybi syndrome 1 11.2
6 fumarase deficiency 11.2
7 renal cell carcinoma, papillary, 1 11.2
8 familial hyperaldosteronism 11.2
9 hyperaldosteronism, familial, type i 11.2
10 hyperaldosteronism, familial, type iv 11.0
11 leiomyomatosis 10.3
12 renal cell carcinoma, nonpapillary 10.2
13 leiomyoma 10.2
14 fumarate hydratase deficiency 10.1
15 leiomyoma, uterine 10.1
16 growth hormone deficiency 10.0
17 aneurysm 10.0
18 pheochromocytoma 10.0
19 homozygous familial hypercholesterolemia 10.0
20 paraganglioma 9.9
21 leiomyoma cutis 9.9
22 ankyloglossia 9.9
23 celiac disease 1 9.9
24 moyamoya disease 1 9.9
25 microcephaly 9.9
26 intracranial aneurysm 9.9
27 cerebritis 9.9
28 ganglioglioma 9.9
29 precocious puberty 9.9
30 cerebral aneurysms 9.9
31 prostate cancer 9.9
32 prostatitis 9.9
33 breast cancer 9.7
34 li-fraumeni syndrome 9.7
35 li-fraumeni syndrome 2 9.7
36 charcot-marie-tooth disease 9.7
37 follicular lymphoma 9.7
38 lymphoma 9.7
39 hypogonadotropic hypogonadism 9.7
40 tooth disease 9.7
41 hemolytic-uremic syndrome 9.7
42 leiomyosarcoma 9.7
43 kidney cancer 9.7
44 smooth muscle tumor 9.7
45 hereditary paraganglioma-pheochromocytoma syndromes 9.7
46 cutis verticis gyrata 9.7
47 fetal hydantoin syndrome 9.7
48 endotheliitis 9.7
49 papular elastorrhexis 9.7
50 chromosome 16p13.3 deletion syndrome, proximal 9.4 CREBBP SRCAP

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



Diseases related to Floating-Harbor Syndrome

Symptoms & Phenotypes for Floating-Harbor Syndrome

Symptoms via clinical synopsis from OMIM:

57
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)

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Floating-Harbor Syndrome:

59 32 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
4 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
5 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
6 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
7 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
8 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
9 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 broad thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0011304
12 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
13 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
14 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
15 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
16 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
17 recurrent otitis media 59 32 occasional (7.5%) Frequent (79-30%) HP:0000403
18 abnormality of the fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001231
19 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
20 telecanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000506
21 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
22 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
23 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
24 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
25 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
26 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
27 nasal speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001611
28 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
29 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
30 long eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000527
31 triangular face 59 32 frequent (33%) Frequent (79-30%) HP:0000325
32 high pitched voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001620
33 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
34 trigonocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000243
35 prominent nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000448
36 short clavicles 59 32 frequent (33%) Frequent (79-30%) HP:0000894
37 congenital posterior urethral valve 59 32 occasional (7.5%) Occasional (29-5%) HP:0010957
38 broad columella 59 32 hallmark (90%) Very frequent (99-80%) HP:0010761
39 expressive language delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0002474
40 posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000358
41 generalized cerebral atrophy/hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007058
42 enlarged joints 59 32 frequent (33%) Frequent (79-30%) HP:0003037
43 congenital pseudoarthrosis of the clavicle 59 32 frequent (33%) Frequent (79-30%) HP:0006585
44 inguinal hernia 32 occasional (7.5%) HP:0000023
45 umbilical hernia 32 occasional (7.5%) HP:0001537
46 smooth philtrum 32 HP:0000319
47 cognitive impairment 32 occasional (7.5%) HP:0100543
48 malformation of the heart and great vessels 59 Occasional (29-5%)
49 cryptorchidism 32 occasional (7.5%) HP:0000028
50 low posterior hairline 32 HP:0002162

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 29 SRCAP

Anatomical Context for Floating-Harbor Syndrome

MalaCards organs/tissues related to Floating-Harbor Syndrome:

41
Bone, Eye, Heart, Thyroid, Kidney, Spinal Cord

Publications for Floating-Harbor Syndrome

Articles related to Floating-Harbor Syndrome:

(show top 50) (show all 56)
# Title Authors Year
1
Perthes disease: A new finding in Floating-Harbor syndrome. ( 29383823 )
2018
2
A novel finding of oligodontia and ankyloglossia in a 14-year-old with Floating-Harbor syndrome. ( 29210485 )
2017
3
Treatment of Moyamoya Disease and Unruptured Intracranial Aneurysm in Floating-Harbor Syndrome. ( 28549641 )
2017
4
Floating Harbor Syndrome. ( 27206688 )
2016
5
The defining DNA methylation signature of Floating-Harbor Syndrome. ( 27934915 )
2016
6
When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome. ( 27208210 )
2016
7
Chiari I malformation as part of the Floating-Harbor syndrome? ( 27815143 )
2016
8
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. ( 25433523 )
2014
9
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. ( 23621943 )
2013
10
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. ( 24375913 )
2013
11
Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. ( 23763483 )
2013
12
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. ( 22965468 )
2013
13
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. ( 21955542 )
2012
14
Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. ( 22570979 )
2012
15
Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome. ( 22263687 )
2012
16
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. ( 22247066 )
2012
17
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. ( 22265015 )
2012
18
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. ( 23165645 )
2012
19
Growth hormone deficiency: an unusual presentation of floating harbor syndrome. ( 22001135 )
2011
20
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
21
Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. ( 20185146 )
2010
22
The phenotype of Floating-Harbor syndrome in 10 patients. ( 20358590 )
2010
23
Floating-Harbor syndrome associated with middle ear abnormalities. ( 20014123 )
2010
24
Ocular abnormalities in Floating-Harbor syndrome. ( 19393524 )
2009
25
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. ( 19764022 )
2009
26
Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. ( 18978661 )
2008
27
Floating-Harbor syndrome: case report. ( 18449141 )
2008
28
Precocious puberty in a girl with floating-harbor syndrome. ( 18341094 )
2007
29
Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. ( 17955782 )
2007
30
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. ( 16523514 )
2006
31
Floating-Harbor syndrome: a first female Turkish patient? ( 17375535 )
2006
32
Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy. ( 15889416 )
2005
33
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. ( 15378536 )
2004
34
Floating-Harbor syndrome: case report and craniofacial phenotype characterization. ( 15139957 )
2004
35
First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly. ( 15119008 )
2004
36
Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? ( 14738118 )
2003
37
A variant example of familial Floating-Harbor syndrome? ( 12725587 )
2003
38
Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. ( 11883867 )
2002
39
Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. ( 11746027 )
2001
40
[Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency]. ( 11995206 )
2000
41
Changing phenotype in Floating-Harbor syndrome. ( 9508066 )
1998
42
A further report on a case of Floating-Harbor Syndrome in a mother and daughter. ( 9892052 )
1998
43
Floating Harbor syndrome. Case report and further syndrome delineation. ( 9401100 )
1997
44
The floating harbor syndrome with cardiac septal defect. ( 8985491 )
1996
45
The Floating-Harbor syndrome: two affected siblings in a family. ( 9001802 )
1996
46
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. ( 8831134 )
1996
47
Floating-Harbor syndrome. A neuropsychological approach. ( 8985732 )
1996
48
Two more diagnostic signs in the Floating-Harbor syndrome. ( 8867666 )
1996
49
Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. ( 7588969 )
1995
50
Further observations on the Floating-Harbor syndrome. ( 8055134 )
1994

Variations for Floating-Harbor Syndrome

ClinVar genetic disease variations for Floating-Harbor Syndrome:

6
(show top 50) (show all 206)
# 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.1559G> A (p.Ser520Asn) single nucleotide variant Benign/Likely benign rs139339184 GRCh38 Chromosome 16, 30711901: 30711901
32 SRCAP NM_006662.2(SRCAP): c.1559G> A (p.Ser520Asn) single nucleotide variant Benign/Likely benign rs139339184 GRCh37 Chromosome 16, 30723222: 30723222
33 SRCAP NM_006662.2(SRCAP): c.3868A> G (p.Ser1290Gly) single nucleotide variant Benign/Likely benign rs150246733 GRCh37 Chromosome 16, 30734045: 30734045
34 SRCAP NM_006662.2(SRCAP): c.3868A> G (p.Ser1290Gly) single nucleotide variant Benign/Likely benign rs150246733 GRCh38 Chromosome 16, 30722724: 30722724
35 SRCAP NM_006662.2(SRCAP): c.6729+2_6729+3insA duplication Uncertain significance rs770423372 GRCh37 Chromosome 16, 30745939: 30745939
36 SRCAP NM_006662.2(SRCAP): c.6729+2_6729+3insA duplication Uncertain significance rs770423372 GRCh38 Chromosome 16, 30734618: 30734618
37 SRCAP NM_006662.2(SRCAP): c.3302C> A (p.Thr1101Lys) single nucleotide variant Benign/Likely benign rs149248373 GRCh38 Chromosome 16, 30721237: 30721237
38 SRCAP NM_006662.2(SRCAP): c.3302C> A (p.Thr1101Lys) single nucleotide variant Benign/Likely benign rs149248373 GRCh37 Chromosome 16, 30732558: 30732558
39 SRCAP NM_006662.2(SRCAP): c.5705A> G (p.Glu1902Gly) single nucleotide variant Benign/Likely benign rs117480926 GRCh38 Chromosome 16, 30729012: 30729012
40 SRCAP NM_006662.2(SRCAP): c.5705A> G (p.Glu1902Gly) single nucleotide variant Benign/Likely benign rs117480926 GRCh37 Chromosome 16, 30740333: 30740333
41 SRCAP NM_006662.2(SRCAP): c.5420C> T (p.Ala1807Val) single nucleotide variant Likely benign rs150467782 GRCh37 Chromosome 16, 30736165: 30736165
42 SRCAP NM_006662.2(SRCAP): c.5420C> T (p.Ala1807Val) single nucleotide variant Likely benign rs150467782 GRCh38 Chromosome 16, 30724844: 30724844
43 SRCAP NM_006662.2(SRCAP): c.4563T> A (p.Pro1521=) single nucleotide variant Benign/Likely benign rs138541811 GRCh37 Chromosome 16, 30735308: 30735308
44 SRCAP NM_006662.2(SRCAP): c.4563T> A (p.Pro1521=) single nucleotide variant Benign/Likely benign rs138541811 GRCh38 Chromosome 16, 30723987: 30723987
45 SRCAP NM_006662.2(SRCAP): c.-379G> A single nucleotide variant Likely benign rs535033024 GRCh38 Chromosome 16, 30699147: 30699147
46 SRCAP NM_006662.2(SRCAP): c.-379G> A single nucleotide variant Likely benign rs535033024 GRCh37 Chromosome 16, 30710468: 30710468
47 SRCAP NM_006662.2(SRCAP): c.67G> A (p.Gly23Ser) single nucleotide variant Likely benign rs138333984 GRCh38 Chromosome 16, 30704076: 30704076
48 SRCAP NM_006662.2(SRCAP): c.67G> A (p.Gly23Ser) single nucleotide variant Likely benign rs138333984 GRCh37 Chromosome 16, 30715397: 30715397
49 SRCAP NM_006662.2(SRCAP): c.1228+14G> A single nucleotide variant Uncertain significance rs774745249 GRCh37 Chromosome 16, 30722182: 30722182
50 SRCAP NM_006662.2(SRCAP): c.1228+14G> A single nucleotide variant Uncertain significance rs774745249 GRCh38 Chromosome 16, 30710861: 30710861

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 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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