MCID: FLT006
MIFTS: 49

Floating-Harbor Syndrome malady

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

Aliases & Classifications for Floating-Harbor Syndrome

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Floating-Harbor Syndrome, Aliases & Descriptions:

Name: Floating-Harbor Syndrome 45 10 19 41 20 21 47 22 60
Pelletier-Leisti Syndrome 41 21
Fhs 41 21
Short Stature with Delayed Bone Age, Expressive Language Delay, a Triangular Face with a Prominent Nose and Deep-Set Eyes 41
 
Leisti-Hollander-Rimoin Syndrome 21
Fetal Hydantoin Syndrome 60
Flhs 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
floating-harbor syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 136140
Orphanet47 2044
MESH via Orphanet34 C537062
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C0729582

Summaries for Floating-Harbor Syndrome

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OMIM:45 Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age,... (136140) more...

MalaCards based summary: Floating-Harbor Syndrome, also known as pelletier-leisti syndrome, is related to rubinstein-taybi syndrome and leiomyomatosis and renal cell cancer, and has symptoms including wide mouth, thin vermilion border and short philtrum. 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 heart, and related mouse phenotype adipose tissue.

NIH Rare Diseases:41 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

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 than 50... more...

GeneReviews summary for fhs

Related Diseases for Floating-Harbor Syndrome

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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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Symptoms by clinical synopsis from OMIM:

136140

Clinical features from OMIM:

136140

Symptoms:

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

HPO human phenotypes related to Floating-Harbor Syndrome:

(show all 74)
id Description Frequency HPO Source Accession
1 wide mouth hallmark (90%) HP:0000154
2 thin vermilion border hallmark (90%) HP:0000233
3 short philtrum hallmark (90%) HP:0000322
4 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
5 wide nasal bridge hallmark (90%) HP:0000431
6 short neck hallmark (90%) HP:0000470
7 abnormality of the eyelashes hallmark (90%) HP:0000499
8 limitation of joint mobility hallmark (90%) HP:0001376
9 abnormality of the voice hallmark (90%) HP:0001608
10 neurological speech impairment hallmark (90%) HP:0002167
11 delayed skeletal maturation hallmark (90%) HP:0002750
12 short stature hallmark (90%) HP:0004322
13 abnormality of thumb phalanx hallmark (90%) HP:0009602
14 broad columella hallmark (90%) HP:0010761
15 triangular face typical (50%) HP:0000325
16 underdeveloped nasal alae typical (50%) HP:0000430
17 deeply set eye typical (50%) HP:0000490
18 abnormality of the clavicles typical (50%) HP:0000889
19 hypertrichosis typical (50%) HP:0000998
20 brachydactyly syndrome typical (50%) HP:0001156
21 joint dislocation typical (50%) HP:0001373
22 joint hypermobility typical (50%) HP:0001382
23 intrauterine growth retardation typical (50%) HP:0001511
24 constipation typical (50%) HP:0002019
25 malabsorption typical (50%) HP:0002024
26 clinodactyly of the 5th finger typical (50%) HP:0004209
27 abnormality of immune system physiology typical (50%) HP:0010978
28 camptodactyly of finger typical (50%) HP:0100490
29 cognitive impairment typical (50%) HP:0100543
30 abnormality of the soft palate typical (50%) HP:0100736
31 trigonocephaly occasional (7.5%) HP:0000243
32 strabismus occasional (7.5%) HP:0000486
33 telecanthus occasional (7.5%) HP:0000506
34 abnormality of the urethra occasional (7.5%) HP:0000795
35 abnormality of the fingernails occasional (7.5%) HP:0001231
36 malformation of the heart and great vessels occasional (7.5%) HP:0002564
37 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
38 hypoplasia of penis occasional (7.5%) HP:0008736
39 inguinal hernia rare (5%) HP:0000023
40 cryptorchidism rare (5%) HP:0000028
41 hypospadias rare (5%) HP:0000047
42 nephrocalcinosis rare (5%) HP:0000121
43 hydronephrosis rare (5%) HP:0000126
44 recurrent otitis media rare (5%) HP:0000403
45 conductive hearing impairment rare (5%) HP:0000405
46 strabismus rare (5%) HP:0000486
47 hypermetropia rare (5%) HP:0000540
48 umbilical hernia rare (5%) HP:0001537
49 defect in the atrial septum rare (5%) HP:0001631
50 coarctation of aorta rare (5%) HP:0001680
51 persistent left superior vena cava rare (5%) HP:0005301
52 congenital posterior urethral valve rare (5%) HP:0010957
53 mesocardia rare (5%) HP:0011599
54 varicocele rare (5%) HP:0012871
55 autosomal dominant inheritance HP:0000006
56 wide mouth HP:0000154
57 thin vermilion border HP:0000233
58 smooth philtrum HP:0000319
59 triangular face HP:0000325
60 posteriorly rotated ears HP:0000358
61 prominent nose HP:0000448
62 short neck HP:0000470
63 deeply set eye HP:0000490
64 long eyelashes HP:0000527
65 hirsutism HP:0001007
66 joint laxity HP:0001388
67 low posterior hairline HP:0002162
68 expressive language delay HP:0002474
69 celiac disease HP:0002608
70 downturned corners of mouth HP:0002714
71 delayed skeletal maturation HP:0002750
72 clinodactyly of the 5th finger HP:0004209
73 short stature HP:0004322
74 cone-shaped epiphyses of the phalanges of the hand HP:0010230

Drugs & Therapeutics for Floating-Harbor Syndrome

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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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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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MalaCards organs/tissues related to Floating-Harbor Syndrome:

31
Bone, Eye, Heart, Spinal cord, Kidney

Animal Models for Floating-Harbor Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Floating-Harbor Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1CREBBP, GH1

Publications for Floating-Harbor Syndrome

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Articles related to Floating-Harbor Syndrome:

(show all 49)
idTitleAuthorsYear
1
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. (25433523)
2014
2
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. (22965468)
2013
3
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. (24375913)
2013
4
Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. (23763483)
2013
5
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. (23621943)
2013
6
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. (22247066)
2012
7
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. (22265015)
2012
8
Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. (22570979)
2012
9
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. (21955542)
2012
10
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. (23165645)
2012
11
Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome. (22263687)
2012
12
Growth hormone deficiency: an unusual presentation of floating harbor syndrome. (22001135)
2011
13
Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. (20185146)
2010
14
Floating-Harbor syndrome associated with middle ear abnormalities. (20014123)
2010
15
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
16
The phenotype of Floating-Harbor syndrome in 10 patients. (20358590)
2010
17
Ocular abnormalities in Floating-Harbor syndrome. (19393524)
2009
18
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. (19764022)
2009
19
Floating-Harbor syndrome: case report. (18449141)
2008
20
Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. (18978661)
2008
21
Precocious puberty in a girl with floating-harbor syndrome. (18341094)
2007
22
Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. (17955782)
2007
23
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. (16523514)
2006
24
Floating-Harbor syndrome: a first female Turkish patient? (17375535)
2006
25
Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy. (15889416)
2005
26
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. (15378536)
2004
27
First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly. (15119008)
2004
28
Floating-Harbor syndrome: case report and craniofacial phenotype characterization. (15139957)
2004
29
Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? (14738118)
2003
30
A variant example of familial Floating-Harbor syndrome? (12725587)
2003
31
Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. (11883867)
2002
32
Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. (11746027)
2001
33
Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency]. (11995206)
2000
34
A further report on a case of Floating-Harbor Syndrome in a mother and daughter. (9892052)
1998
35
Changing phenotype in Floating-Harbor syndrome. (9508066)
1998
36
Floating Harbor syndrome. Case report and further syndrome delineation. (9401100)
1997
37
The Floating-Harbor syndrome: two affected siblings in a family. (9001802)
1996
38
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. (8831134)
1996
39
The floating harbor syndrome with cardiac septal defect. (8985491)
1996
40
Floating-Harbor syndrome. A neuropsychological approach. (8985732)
1996
41
Two more diagnostic signs in the Floating-Harbor syndrome. (8867666)
1996
42
Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. (7588969)
1995
43
Further observations on the Floating-Harbor syndrome. (8055134)
1994
44
Floating-Harbor Syndrome (23193612)
1993
45
Floating-Harbor syndrome and celiac disease. (2063899)
1991
46
Floating-Harbor syndrome. (2051457)
1991
47
The Floating-Harbor syndrome. (2029915)
1991
48
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). (3171794)
1988
49
The Floating-Harbor syndrome. (1218224)
1975

Variations for Floating-Harbor Syndrome

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Clinvar genetic disease variations for Floating-Harbor Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SRCAPNM_006662.2(SRCAP): c.7000C> T (p.Gln2334Ter)single nucleotide variantPathogenicGRCh38Chr 16, 30736616: 30736616
2SRCAPNM_006662.2(SRCAP): c.7330C> T (p.Arg2444Ter)single nucleotide variantPathogenicrs199469464GRCh37Chr 16, 30748691: 30748691
3SRCAPNM_006662.2(SRCAP): c.7303C> T (p.Arg2435Ter)single nucleotide variantPathogenicrs199469465GRCh37Chr 16, 30748664: 30748664
4SRCAPSRCAP, 1-BP DEL, 7549CdeletionPathogenic
5SRCAPSRCAP, 1-BP DUP, NT7863duplicationPathogenic

Expression for genes affiliated with Floating-Harbor Syndrome

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

Pathways for genes affiliated with Floating-Harbor Syndrome

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

(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 signaling36
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 Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
9.1CREBBP, GH1

Compounds for genes affiliated with Floating-Harbor Syndrome

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

(show all 16)
idCompoundScoreTop Affiliating Genes
1triiodothyronine439.4CREBBP, GH1
2rosiglitazone28 43 49 24 1213.4CREBBP, GH1
3cyclophosphamide43 49 1211.4CREBBP, GH1
4isoproterenol43 1210.4CREBBP, GH1
5retinoid439.4GH1, CREBBP
6tamoxifen43 49 28 1212.4CREBBP, GH1
7vitamin d439.4CREBBP, GH1
8pd 98,059439.3CREBBP, GH1
9estradiol43 24 1211.3GH1, CREBBP
10forskolin43 49 1211.3CREBBP, GH1
11glutamine439.2CREBBP, GH1
12fatty acid439.2CREBBP, GH1
13creatinine439.1GH1, CREBBP
14steroid439.1CREBBP, GH1
15progesterone43 28 59 24 1213.0CREBBP, GH1
16testosterone43 59 24 1211.8CREBBP, GH1

GO Terms for genes affiliated with Floating-Harbor Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1viral processGO:00160329.0CREBBP, SRCAP
2histone acetylationGO:00165738.7CREBBP, SRCAP

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

idNameGO IDScoreTop Affiliating Genes
1transcription coactivator activityGO:00037139.0CREBBP, SRCAP
2histone acetyltransferase activityGO:00044028.7CREBBP, SRCAP

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet