Floating-Harbor Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: FLT006 MIFTS: 44	Floating-Harbor Syndrome Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Bone diseases, Smell/Taste diseases
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 136140

Orphanet ⁵⁹ ORPHA2044

MESH via Orphanet ⁴⁵ C537062

UMLS via Orphanet ⁷⁴ C0729582

ICD10 via Orphanet ³⁴ Q87.8

MedGen ⁴² C0729582

MeSH ⁴⁴ D000015

KEGG ³⁷ H02082

SNOMED-CT via HPO ⁶⁹ 263681008 396232000 204878001 more

UMLS ⁷³ C0729582

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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

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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:

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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

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Drugs & Therapeutics for Floating-Harbor Syndrome

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

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Genetic Tests for Floating-Harbor Syndrome

Genetic tests related to Floating-Harbor Syndrome:

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

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Anatomical Context for Floating-Harbor Syndrome

MalaCards organs/tissues related to Floating-Harbor Syndrome:

⁴¹

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

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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 )	Milani D....Gervasini C.	2018
2	A novel finding of oligodontia and ankyloglossia in a 14-year-old with Floating-Harbor syndrome. ( 29210485 )	Singh A....Mohan A.	2017
3	Treatment of Moyamoya Disease and Unruptured Intracranial Aneurysm in Floating-Harbor Syndrome. ( 28549641 )	Coughlin D.J....Schuette A.J.	2017
4	Floating Harbor Syndrome. ( 27206688 )	Amita M....Phadke S.R.	2016
5	The defining DNA methylation signature of Floating-Harbor Syndrome. ( 27934915 )	Hood R.L....Sadikovic B.	2016
6	When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome. ( 27208210 )	Messina G....Dimitri P.	2016
7	Chiari I malformation as part of the Floating-Harbor syndrome? ( 27815143 )	Kurzbuch A.R....Magdum S.	2016
8	Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. ( 25433523 )	Seifert W....Horn D.	2014
9	The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. ( 23621943 )	Nikkel S.M....Boycott K.M.	2013
10	Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. ( 24375913 )	Nagasaki K....Fukami M.	2013
11	Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. ( 23763483 )	Kehrer M....Tzschach A.	2013
12	Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. ( 22965468 )	Le Goff C....Cormier-Daire V.	2013
13	Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. ( 21955542 )	Arpin S....HAcron D.	2012
14	Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. ( 22570979 )	GarcA-a R.J....Mericq V.	2012
15	Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome. ( 22263687 )	Pouliquen D....Martinaud O.	2012
16	Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. ( 22247066 )	Lopez E....Faivre L.	2012
17	Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. ( 22265015 )	Hood R.L....Boycott K.M.	2012
18	Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. ( 23165645 )	Reschen M....O'Callaghan C.A.	2012
19	Growth hormone deficiency: an unusual presentation of floating harbor syndrome. ( 22001135 )	Galli-Tsinopoulou A....Stylianou C.	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 )	Carey J.C.	2010
21	Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. ( 20185146 )	Angelillo N....Barillari U.	2010
22	The phenotype of Floating-Harbor syndrome in 10 patients. ( 20358590 )	White S.M....Hurst J.A.	2010
23	Floating-Harbor syndrome associated with middle ear abnormalities. ( 20014123 )	Hendrickx J.J....Gordts F.	2010
24	Ocular abnormalities in Floating-Harbor syndrome. ( 19393524 )	Asseidat I....Kaufman L.M.	2009
25	Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. ( 19764022 )	NELSON R.A....Zwerdling T.	2009
26	Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. ( 18978661 )	Paluzzi A....Patton M.A.	2008
27	Floating-Harbor syndrome: case report. ( 18449141 )	Genc G....Kulali F.	2008
28	Precocious puberty in a girl with floating-harbor syndrome. ( 18341094 )	Stagi S....Chiarelli F.	2007
29	Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. ( 17955782 )	Bastaki L....Naguib K.K.	2007
30	Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. ( 16523514 )	Feingold M.	2006
31	Floating-Harbor syndrome: a first female Turkish patient? ( 17375535 )	Karaer K....Percin E.F.	2006
32	Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy. ( 15889416 )	Wiltshire E....Dixon J.	2005
33	The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. ( 15378536 )	Ala-Mello S....Peippo M.	2004
34	Floating-Harbor syndrome: case report and craniofacial phenotype characterization. ( 15139957 )	De Benedetto M.S....Ciamponi A.L.	2004
35	First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly. ( 15119008 )	SelimoA9lu M.A....Orbak Z.	2004
36	Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? ( 14738118 )	Ioan D.M....Fryns J.P.	2003
37	A variant example of familial Floating-Harbor syndrome? ( 12725587 )	PeA+aloza J.M....SA!nchez-Corona J.	2003
38	Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. ( 11883867 )	CannavA^ S....Trimarchi F.	2002
39	Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. ( 11746027 )	Wieczorek D....Meinecke P.	2001
40	[Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency]. ( 11995206 )	Femiano P....Scarano G.	2000
41	Changing phenotype in Floating-Harbor syndrome. ( 9508066 )	Hersh J.H....Verdi G.D.	1998
42	A further report on a case of Floating-Harbor Syndrome in a mother and daughter. ( 9892052 )	Rosen A.C....Lubinsky M.S.	1998
43	Floating Harbor syndrome. Case report and further syndrome delineation. ( 9401100 )	Midro A.T....WiA9niewski A.	1997
44	The floating harbor syndrome with cardiac septal defect. ( 8985491 )	Lazebnik N....Mulvihill J.J.	1996
45	The Floating-Harbor syndrome: two affected siblings in a family. ( 9001802 )	Fryns J.P....Van den Berghe H.	1996
46	The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. ( 8831134 )	Smeets E....Van den Berghe H.	1996
47	Floating-Harbor syndrome. A neuropsychological approach. ( 8985732 )	Davalos I.P....Ramirez-DueA+as M.L.	1996
48	Two more diagnostic signs in the Floating-Harbor syndrome. ( 8867666 )	Ala-Mello S....Peippo M.	1996
49	Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. ( 7588969 )	Lacombe D....Battin J.	1995
50	Further observations on the Floating-Harbor syndrome. ( 8055134 )	Houlston R.S....Temple I.K.	1994

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Genes for Floating-Harbor Syndrome

Genes related to Floating-Harbor Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SRCAP	Snf2 Related CREBBP Activator Protein	Protein Coding	1401.72	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	22265015 23193612 22965468 (more) 23763483 20358590
2	CREBBP	CREB Binding Protein	Protein Coding	17.16	GeneCards inferred via : Publications (show sections)
3	TMEM265	Transmembrane Protein 265	Protein Coding	9.36	GeneCards inferred via : Variants (show sections)
4	SNORA30	Small Nucleolar RNA, H/ACA Box 30	RNA Gene	8.23	GeneCards inferred via : Variants (show sections)
5	LOC730183	Uncharacterized LOC730183	Protein Coding	8.03	GeneCards inferred via : Variants (show sections)

Sources

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

Sources

Expression for Floating-Harbor Syndrome

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

Sources

Pathways for Floating-Harbor Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Pathways Affected in Adenoid Cystic Carcinoma ¹	10.44	CREBBP SRCAP

Sources

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

Sources for Floating-Harbor Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia