FHS
MCID: FLT006
MIFTS: 47

Floating-Harbor Syndrome (FHS) malady

Neuronal, Fetal, Bone, Smell/Taste categories

Summaries for Floating-Harbor Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 low set ears/posteriorly rotated ears, short neck and autosomal recessive inheritance. 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 spinal cord 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:64 Floating-Harbor syndrome, also known as Pelletier-Leisti syndrome, is a rare disease with fewer that 50... more...

Description from OMIM:47 136140

GeneReviews summary for fhs

Aliases & Classifications for Floating-Harbor Syndrome

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Bone, Smell/Taste


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 61
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
oculodigitoesophagoduodenal syndrome 19
leisti-hollander-rimoin syndrome 21
leisti-hollister-rimoin syndrome 49
fetal hydantoin syndrome 61
feingold syndrome 61
oded syndrome 19
flhs 21


External Ids:

SNOMED-CT via Orphanet58 312214005
UMLS via Orphanet62 C0729582
OMIM47 136140
MESH via Orphanet36 C537062
ICD10 via Orphanet26 Q87.8

Related Diseases for Floating-Harbor Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1short stature30.5GH1, CREBBP
2rubinstein-taybi syndrome30.3SRCAP, CREBBP
3leisti hollister rimoin syndrome10.7
4familial hypercholesterolemia10.7
5hypercholesterolemia10.6
6fumarate hydratase deficiency10.5
7hereditary leiomyomatosis and renal cell cancer10.5
8char syndrome10.4
9feingold syndrome 210.4
10lockwood feingold syndrome10.4
11n syndrome10.4
12short syndrome10.4
13growth hormone deficiency10.4
14multiple cutaneous and uterine leiomyomas10.3
15feingold syndrome10.3
16cutaneous leiomyosarcoma10.2
17uterine fibroid10.2
18duodenal atresia10.2
19microcephaly10.2
20ganglioglioma10.2
21celiac disease10.2
22micro syndrome10.2
23young syndrome10.2
24precocious puberty10.2
25kid syndrome10.2
26cystadenoma10.2
27gastric leiomyoma10.2
28papillary renal cell carcinoma10.2
29cutaneous leishmaniasis10.2
30hyperlipidemia type 310.2
31familial renal cell carcinoma10.2
32persistent fetal circulation syndrome10.2
33melanotic neuroectodermal tumor10.2
34thrombocytosis10.2
35polydactyly10.2
36cystic lymphangioma10.2
37acne10.2
38rheumatic disease10.2
39acheiria10.2
40acheiria, unilateral10.2
41cerebritis10.1
42paraganglioma10.1
43pheochromocytoma10.1
44familial breast cancer10.1
45hyperaldosteronism, familial, type iii10.1
46leiomyoma, uterine, somatic10.1
47feingold syndrome 110.1
48intestinal atresia10.1
49esophageal atresia10.1
50imperforate anus10.1

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



Diseases related to floating-harbor syndrome

Clinical Features for Floating-Harbor Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

136140

Clinical synopsis from OMIM:

136140

Symptoms:

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

Drugs & Therapeutics for Floating-Harbor Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Floating-Harbor Syndrome

Drug clinical trials:

Search ClinicalTrials for Floating-Harbor Syndrome

Search NIH Clinical Center for Floating-Harbor Syndrome

Search CenterWatch for Floating-Harbor Syndrome

Genetic Tests for Floating-Harbor Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Floating-Harbor Syndrome:

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

Anatomical Context for Floating-Harbor Syndrome

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

33
Spinal cord, Kidney

Animal Models for Floating-Harbor Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Floating-Harbor Syndrome

Sources:
51PubMed
See all sources

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

Expression for genes affiliated with Floating-Harbor Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 30KEGG, 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
Hide members
9.0GH1, CREBBP

Compounds for genes affiliated with Floating-Harbor Syndrome

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Floating-Harbor Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1triiodothyronine459.1GH1, CREBBP
2rosiglitazone45 50 29 11 2413.1GH1, CREBBP
3cyclophosphamide45 50 1111.0CREBBP, GH1
4tamoxifen45 50 29 1112.0CREBBP, GH1
5isoproterenol45 119.9CREBBP, GH1
6retinoid458.7CREBBP, GH1

GO Terms for genes affiliated with Floating-Harbor Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Floating-Harbor Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet