FHS
MCID: FLT006
MIFTS: 52

Floating-Harbor Syndrome (FHS) malady

Neuronal diseases, Fetal diseases, Bone diseases, Smell/Taste diseases categories

Summaries for Floating-Harbor Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 rubinstein-taybi syndrome and leisti hollister rimoin syndrome, and has symptoms including urethral anomalies/stenosis/posterior urethral valves/megalocystis, micropenis/small penis/agenesis and clinodactyly of fifth finger. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2-related CREBBP activator protein), and among its related pathways are G-Beta Gamma Signaling and NF-KappaB Family Pathway. The compounds triiodothyronine and rosiglitazone have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and kidney.

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

Description from OMIM:46 136140

GeneReviews summary for fhs

Aliases & Classifications for Floating-Harbor Syndrome

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
floating-harbor syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

floating-harbor syndrome 19 42 20 22 21 46 48 60
pelletier-leisti syndrome 42 21
fhs 42 21
short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes 42
leisti-hollander-rimoin syndrome 21
leisti-hollister-rimoin syndrome 48
fetal hydantoin syndrome 60
feingold syndrome 60
flhs 21


External Ids:

SNOMED-CT via Orphanet57 312214005
UMLS via Orphanet61 C0729582
OMIM46 136140
MESH via Orphanet35 C537062
ICD10 via Orphanet26 Q87.8

Related Diseases for Floating-Harbor Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Floating-Harbor Syndrome:



Diseases related to floating-harbor syndrome

Clinical Features for Floating-Harbor Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

136140

Clinical synopsis from OMIM:

136140

Symptoms:

48 (show all 43)
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • micropenis/small penis/agenesis
  • clinodactyly of fifth finger
  • short philtrum
  • macrostomia/big mouth
  • intrauterine growth retardation
  • telecanthus/canthal dystopy
  • thin/hypoplastic ala nasi
  • immobile soft palate/soft palate anomaly
  • 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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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MalaCards organs/tissues related to Floating-Harbor Syndrome:

32
Bone, Eye, Kidney, Spinal cord

Animal Models for Floating-Harbor Syndrome or affiliated genes

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Publications for Floating-Harbor Syndrome

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50PubMed
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Articles related to Floating-Harbor Syndrome:

(show all 48)
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
Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. (23763483)
2013
4
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. (23621943)
2013
5
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. (22247066)
2012
6
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. (22265015)
2012
7
Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. (22570979)
2012
8
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. (21955542)
2012
9
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. (23165645)
2012
10
Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome. (22263687)
2012
11
Growth hormone deficiency: an unusual presentation of floating harbor syndrome. (22001135)
2011
12
Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. (20185146)
2010
13
Floating-Harbor syndrome associated with middle ear abnormalities. (20014123)
2010
14
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
15
The phenotype of Floating-Harbor syndrome in 10 patients. (20358590)
2010
16
Ocular abnormalities in Floating-Harbor syndrome. (19393524)
2009
17
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. (19764022)
2009
18
Floating-Harbor syndrome: case report. (18449141)
2008
19
Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. (18978661)
2008
20
Precocious puberty in a girl with floating-harbor syndrome. (18341094)
2007
21
Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. (17955782)
2007
22
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. (16523514)
2006
23
Floating-Harbor syndrome: a first female Turkish patient? (17375535)
2006
24
Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy. (15889416)
2005
25
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. (15378536)
2004
26
First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly. (15119008)
2004
27
Floating-Harbor syndrome: case report and craniofacial phenotype characterization. (15139957)
2004
28
Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? (14738118)
2003
29
A variant example of familial Floating-Harbor syndrome? (12725587)
2003
30
Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. (11883867)
2002
31
Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. (11746027)
2001
32
Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency]. (11995206)
2000
33
A further report on a case of Floating-Harbor Syndrome in a mother and daughter. (9892052)
1998
34
Changing phenotype in Floating-Harbor syndrome. (9508066)
1998
35
Floating Harbor syndrome. Case report and further syndrome delineation. (9401100)
1997
36
The Floating-Harbor syndrome: two affected siblings in a family. (9001802)
1996
37
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. (8831134)
1996
38
The floating harbor syndrome with cardiac septal defect. (8985491)
1996
39
Floating-Harbor syndrome. A neuropsychological approach. (8985732)
1996
40
Two more diagnostic signs in the Floating-Harbor syndrome. (8867666)
1996
41
Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. (7588969)
1995
42
Further observations on the Floating-Harbor syndrome. (8055134)
1994
43
Floating-Harbor Syndrome (23193612)
1993
44
Floating-Harbor syndrome and celiac disease. (2063899)
1991
45
Floating-Harbor syndrome. (2051457)
1991
46
The Floating-Harbor syndrome. (2029915)
1991
47
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). (3171794)
1988
48
The Floating-Harbor syndrome. (1218224)
1975

Genetic Variations for Floating-Harbor Syndrome

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Expression for genes affiliated with Floating-Harbor Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Floating-Harbor Syndrome

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Pathways for genes affiliated with Floating-Harbor Syndrome

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51QIAGEN, 29KEGG, 12EMD Millipore
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Pathways related to Floating-Harbor Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.0GH1, CREBBP
2
Hide members
9.0GH1, CREBBP
39.0GH1, CREBBP
4
Development Prolactin receptor signaling
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9.0GH1, CREBBP

Compounds for genes affiliated with Floating-Harbor Syndrome

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Floating-Harbor Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1triiodothyronine449.1GH1, CREBBP
2rosiglitazone44 49 28 11 2413.1GH1, CREBBP
3cyclophosphamide44 49 1111.0CREBBP, GH1
4tamoxifen44 49 28 1112.0CREBBP, GH1
5isoproterenol44 119.9CREBBP, GH1
6retinoid448.7CREBBP, 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
1histone acetylationGO:0165739.1SRCAP, CREBBP

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

idNameGO IDScoreTop Affiliating Genes
1transcription coactivator activityGO:0037139.1SRCAP, CREBBP
2histone acetyltransferase activityGO:0044028.8SRCAP, CREBBP

Products for genes affiliated with Floating-Harbor Syndrome

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Sources for Floating-Harbor Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet