FHS
MCID: FLT006
MIFTS: 54

Floating-Harbor Syndrome (FHS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Bone diseases, Smell/Taste diseases categories
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Summaries for Floating-Harbor Syndrome

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Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Floating-harbor syndrome is a genetic disorder that was named for the first two identified patients who were seen at boston floating hospital and harbor general hospital in california. the main characteristics of this syndrome are short stature, delayed bone growth, delay in expressive language, and distinct facial features. the exact cause of floating-harbor syndrome is not known. treatment is symptomatic and supportive. last updated: 5/7/2009

MalaCards: Floating-Harbor Syndrome, also known as pelletier-leisti syndrome, is related to short stature and rubinstein-taybi syndrome, and has symptoms including urethral anomalies/stenosis/posterior urethral valves/megalocystis, immobile soft palate/soft palate anomaly and micropenis/small penis/agenesis. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2-related CREBBP activator protein), and among its related pathways are TGF-Beta Pathway and Activation of cAMP-Dependent PKA. The compounds triiodothyronine and rosiglitazone have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and kidney, and related mouse phenotype adipose tissue.

Genetics Home Reference:21 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:65 Floating-Harbor syndrome, also known as Pelletier-Leisti syndrome, is a rare disease with fewer than 50... more...

Description from OMIM:47 136140

GeneReviews summary for fhs

Aliases & Classifications for Floating-Harbor Syndrome

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Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
floating-harbor syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

floating-harbor syndrome 19 43 20 22 21 47 49 62
pelletier-leisti syndrome 43 21
fhs 43 21
short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes 43
leisti-hollander-rimoin syndrome 21
fetal hydantoin syndrome 62
feingold syndrome 62
flhs 21


External Ids:

SNOMED-CT via Orphanet59 312214005
UMLS via Orphanet63 C0729582
OMIM47 136140
MESH via Orphanet36 C537062
ICD10 via Orphanet26 Q87.8

Related Diseases for Floating-Harbor Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Floating-Harbor Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1short stature30.5CREBBP, GH1
2rubinstein-taybi syndrome30.3CREBBP, SRCAP
3familial hypercholesterolemia10.7
4hypercholesterolemia10.6
5hereditary leiomyomatosis and renal cell cancer10.6
6fumarate hydratase deficiency10.5
7leiomyomatosis10.5
8growth hormone deficiency10.4
9leiomyoma10.4
10papillary renal cell carcinoma10.3
11leiomyosarcoma10.3
12renal cell carcinoma10.3
13uterine fibroid10.3
14hyperaldosteronism, familial, type iii10.3
15hyperlipidemia type 310.2
16ganglioglioma10.2
17microcephaly10.2
18celiac disease10.2
19cerebritis10.2
20precocious puberty10.2
21aneurysm10.2
22cerebral aneurysms10.2
23multiple cutaneous and uterine leiomyomas10.2
24myoma10.1
25cystadenoma10.1
26polyhydramnios10.1
27cutaneous leiomyosarcoma10.1
28gastric leiomyoma10.1
29renal clear cell carcinoma10.1
30kidney cancer10.1
31prostate cancer10.1
32prostatitis10.1
33familial renal cell carcinoma10.1
34cerebral atrophy10.1
35hyperglycemia10.0CREBBP, GH1
36choriocarcinoma9.9CREBBP, GH1
37klinefelter's syndrome9.9
38follicular lymphoma9.9
39glucocorticoid-remediable aldosteronism9.9
40atherosclerosis9.9
41breast cancer9.9
42charcot-marie-tooth disease9.9
43tooth disease9.9
44cutis verticis gyrata9.9
45familial breast cancer9.9
46familial hyperaldosteronism type 29.9
47fetal hydantoin syndrome9.9
48familial hyperaldosteronism9.9
49paragangliomas 59.9
50ldl cholesterol level qtl29.9

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



Diseases related to floating-harbor syndrome

Symptoms for Floating-Harbor Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

136140

Clinical features from OMIM:

136140

Symptoms:

49 (show all 43)
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • immobile soft palate/soft palate anomaly
  • micropenis/small penis/agenesis
  • short philtrum
  • macrostomia/big mouth
  • intrauterine growth retardation
  • telecanthus/canthal dystopy
  • thin/hypoplastic ala nasi
  • clinodactyly of fifth finger
  • deepset eyes/enophthalmos
  • thin/retracted lips
  • joint dislocation/subluxation
  • long/thick/curved lashes/trichomegaly/polytrichia
  • triangular face
  • camptodactyly of some fingers
  • clavicle absent/abnormal
  • trigonocephaly
  • thick columella
  • thin/hypoplastic/hyperconvex fingernails
  • hyperactivity/attention deficit
  • long/large/bulbous nose
  • delayed bone age
  • autosomal dominant inheritance
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • constipation
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • motor deficit/trouble
  • autosomal recessive inheritance
  • short neck
  • malabsorption/chronic diarrhea/steatorrhea
  • restricted joint mobility/joint stiffness/ankylosis
  • broad/bifid thumb
  • broad nasal root
  • strabismus/squint
  • hyperextensible joints/articular hyperlaxity
  • short hand/brachydactyly
  • hirsutism/hypertrichosis/increased body hair
  • congenital cardiac anomaly/malformation/cardiopathy
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • abnormal cry/voice/phonation disorder/nasal speech
  • short stature/dwarfism/nanism
  • low set ears/posteriorly rotated ears

Drugs & Therapeutics for Floating-Harbor Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Floating-Harbor Syndrome

Search NIH Clinical Center for Floating-Harbor Syndrome

Genetic Tests for Floating-Harbor Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Floating-Harbor Syndrome:

id Genetic test Affiliating Genes
1 Floating-Harbor Syndrome20 22 SRCAP

Anatomical Context for Floating-Harbor Syndrome

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33MalaCards
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MalaCards organs/tissues related to Floating-Harbor Syndrome:

33
Bone, Eye, Kidney, Spinal cord

Animal Models for Floating-Harbor Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Floating-Harbor Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1CREBBP, GH1

Publications for Floating-Harbor Syndrome

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52PubMed
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Articles related to Floating-Harbor Syndrome:

(show all 46)
idTitleAuthorsYear
1
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. (22965468)
2013
2
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. (24375913)
2013
3
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. (23621943)
2013
4
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. (22247066)
2012
5
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. (22265015)
2012
6
Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. (22570979)
2012
7
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. (21955542)
2012
8
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. (23165645)
2012
9
Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome. (22263687)
2012
10
Growth hormone deficiency: an unusual presentation of floating harbor syndrome. (22001135)
2011
11
Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. (20185146)
2010
12
Floating-Harbor syndrome associated with middle ear abnormalities. (20014123)
2010
13
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
14
The phenotype of Floating-Harbor syndrome in 10 patients. (20358590)
2010
15
Ocular abnormalities in Floating-Harbor syndrome. (19393524)
2009
16
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. (19764022)
2009
17
Floating-Harbor syndrome: case report. (18449141)
2008
18
Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. (18978661)
2008
19
Precocious puberty in a girl with floating-harbor syndrome. (18341094)
2007
20
Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. (17955782)
2007
21
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. (16523514)
2006
22
Floating-Harbor syndrome: a first female Turkish patient? (17375535)
2006
23
Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy. (15889416)
2005
24
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. (15378536)
2004
25
First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly. (15119008)
2004
26
Floating-Harbor syndrome: case report and craniofacial phenotype characterization. (15139957)
2004
27
A variant example of familial Floating-Harbor syndrome? (12725587)
2003
28
Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. (11883867)
2002
29
Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. (11746027)
2001
30
Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency]. (11995206)
2000
31
A further report on a case of Floating-Harbor Syndrome in a mother and daughter. (9892052)
1998
32
Changing phenotype in Floating-Harbor syndrome. (9508066)
1998
33
Floating Harbor syndrome. Case report and further syndrome delineation. (9401100)
1997
34
The Floating-Harbor syndrome: two affected siblings in a family. (9001802)
1996
35
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. (8831134)
1996
36
The floating harbor syndrome with cardiac septal defect. (8985491)
1996
37
Floating-Harbor syndrome. A neuropsychological approach. (8985732)
1996
38
Two more diagnostic signs in the Floating-Harbor syndrome. (8867666)
1996
39
Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. (7588969)
1995
40
Further observations on the Floating-Harbor syndrome. (8055134)
1994
41
Floating-Harbor Syndrome (23193612)
1993
42
Floating-Harbor syndrome and celiac disease. (2063899)
1991
43
Floating-Harbor syndrome. (2051457)
1991
44
The Floating-Harbor syndrome. (2029915)
1991
45
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). (3171794)
1988
46
The Floating-Harbor syndrome. (1218224)
1975

Variations for Floating-Harbor Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Floating-Harbor Syndrome:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1MYCNNM_005378.4(MYCN): c.1178G> A (p.Arg393His)single nucleotide variantPathogenicrs104893646GRCh37Chr 2, 16086002: 16086002
2MYCNNM_005378.4(MYCN): c.1177C> A (p.Arg393Ser)single nucleotide variantPathogenicrs104893647GRCh37Chr 2, 16086001: 16086001
3MYCNNM_005378.4(MYCN): c.1181G> A (p.Arg394His)single nucleotide variantPathogenicrs104893648GRCh37Chr 2, 16086005: 16086005
4MYCNNM_005378.4(MYCN): c.231G> A (p.Trp77Ter)single nucleotide variantPathogenicrs121913667GRCh37Chr 2, 16082417: 16082417
5MYCNNM_005378.4(MYCN): c.217G> T (p.Glu73Ter)single nucleotide variantPathogenicrs113994115GRCh37Chr 2, 16082403: 16082403
6MYCNNM_005378.4(MYCN): c.1145G> A (p.Arg382His)single nucleotide variantPathogenicrs121913666GRCh37Chr 2, 16085969: 16085969
7SRCAPNM_006662.2(SRCAP): c.7000C> T (p.Gln2334Ter)single nucleotide variantPathogenicGRCh38Chr 16, 30736616: 30736616
8SRCAPNM_006662.2(SRCAP): c.7330C> T (p.Arg2444Ter)single nucleotide variantPathogenicrs199469464GRCh37Chr 16, 30748691: 30748691
9SRCAPNM_006662.2(SRCAP): c.7303C> T (p.Arg2435Ter)single nucleotide variantPathogenicrs199469465GRCh37Chr 16, 30748664: 30748664
10SRCAPSRCAP, 1-BP DEL, 7549CdeletionPathogenic
11SRCAPSRCAP, 1-BP DUP, NT7863duplicationPathogenic

Expression for genes affiliated with Floating-Harbor Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Floating-Harbor Syndrome

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

Pathways for genes affiliated with Floating-Harbor Syndrome

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Sources:
50PathCards, 53QIAGEN, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters
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Pathways related to Floating-Harbor Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1CREBBP, GH1
2
Show member pathways
9.1CREBBP, GH1
3
Show member pathways
9.1GH1, CREBBP
4
Show member pathways
9.1CREBBP, GH1
5
Show member pathways
9.1CREBBP, GH1
6
Show member pathways
9.1CREBBP, GH1
7
Show member pathways
9.1GH1, CREBBP
8
Show member pathways
9.1GH1, CREBBP
9
Show member pathways
9.1CREBBP, GH1
10
Show member pathways
Type III interferon signaling38
9.1CREBBP, GH1
11
Show member pathways
9.1CREBBP, GH1
12
Show member pathways
9.1GH1, CREBBP
13
Show member pathways
9.1CREBBP, GH1
14
Show member pathways
9.1CREBBP, GH1
15
Show member pathways
Prolactin Signaling Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
9.1CREBBP, GH1

Compounds for genes affiliated with Floating-Harbor Syndrome

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Sources:
45Novoseek, 29IUPHAR, 51PharmGKB, 24HMDB, 11DrugBank, 61Tocris Bioscience
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Compounds related to Floating-Harbor Syndrome according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1triiodothyronine459.4CREBBP, GH1
2rosiglitazone29 45 51 24 1113.4CREBBP, GH1
3cyclophosphamide45 51 1111.4CREBBP, GH1
4isoproterenol45 1110.4CREBBP, GH1
5retinoid459.4GH1, CREBBP
6tamoxifen45 51 29 1112.4CREBBP, GH1
7vitamin d459.4CREBBP, GH1
8pd 98,059459.3CREBBP, GH1
9estradiol45 24 1111.3GH1, CREBBP
10forskolin45 51 1111.3CREBBP, GH1
11glutamine459.2CREBBP, GH1
12fatty acid459.2CREBBP, GH1
13creatinine459.1GH1, CREBBP
14steroid459.1CREBBP, GH1
15progesterone45 29 61 24 1113.0CREBBP, GH1
16testosterone45 61 24 1111.8CREBBP, GH1

GO Terms for genes affiliated with Floating-Harbor Syndrome

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16Gene Ontology
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Biological processes related to Floating-Harbor Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1viral processGO:0160329.0CREBBP, SRCAP
2histone acetylationGO:0165738.7CREBBP, SRCAP

Molecular functions related to Floating-Harbor Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription coactivator activityGO:0037139.0CREBBP, SRCAP
2histone acetyltransferase activityGO:0044028.7CREBBP, SRCAP

Products for genes affiliated with Floating-Harbor Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Floating-Harbor Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet