MCID: FLT006
MIFTS: 45

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:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Floating-Harbor Syndrome:

Name: Floating-Harbor Syndrome 49 11 21 45 22 23 51 24 65 67
Pelletier-Leisti Syndrome 45 23
Flhs 23 67
Fhs 45 23
 
Short Stature with Delayed Bone Age, Expressive Language Delay, a Triangular Face with a Prominent Nose and Deep-Set Eyes 45
Leisti-Hollander-Rimoin Syndrome 23
Fetal Hydantoin Syndrome 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
floating-harbor syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 136140
Orphanet51 2044
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C537062
UMLS via Orphanet66 C0729582
MedGen34 C0729582
MeSH36 D000015

Summaries for Floating-Harbor Syndrome

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OMIM:49 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 leiomyomatosis and renal cell cancer and hypercholesterolemia, familial, 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). Affiliated tissues include bone, eye and heart.

NIH Rare Diseases:45 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:23 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.

UniProtKB/Swiss-Prot:67 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.

Wikipedia:68 Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than... more...

GeneReviews summary for fhs

Related Diseases for Floating-Harbor Syndrome

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

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1leiomyomatosis and renal cell cancer10.7
2hypercholesterolemia, familial10.7
3homozygous familial hypercholesterolemia10.7
4fumarase deficiency10.6
5fumarate hydratase deficiency10.5
6hyperaldosteronism, familial, type iii10.4
7growth hormone deficiency10.4
8leiomyomatosis10.4
9hyperlipidemia type 310.4
10familial hyperlipidemia10.3
11lipid metabolism disorder10.3
12peripheral vascular disease10.3
13atherosclerosis10.3
14arteriosclerosis10.3
15leiomyoma10.3
16celiac disease10.2
17rubinstein-taybi syndrome10.2
18cerebritis10.2
19microcephaly10.2
20ganglioglioma10.2
21precocious puberty10.2
22aneurysm10.2
23cerebral aneurysms10.2
24pheochromocytoma10.2
25hypercholesterolemia, familial, 310.2
26breast cancer10.2
27coronary artery disease10.2
28renal cell carcinoma10.2
29aldosteronism, glucocorticoid-remediable10.2
30ischemic heart disease10.2
31prostate cancer10.1
32metabolic syndrome x10.1
33paraganglioma10.1
34artery disease10.1
35congenital heart disease10.1
36prostatitis10.1
37vascular disease10.1
38hyperlipidemia, familial combined10.0
39stroke, ischemic10.0
40coronary heart disease 210.0
41hyperaldosteronism, familial, type ii10.0
42coronary heart disease 410.0
43coronary heart disease 310.0
44hyperchylomicronemia, late-onset10.0
45pulmonary hypertension10.0
46charcot-marie-tooth disease10.0
47follicular lymphoma10.0
48klinefelter's syndrome10.0
49smooth muscle tumor10.0
50familial lipoprotein lipase deficiency10.0

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:

 51 (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 clavicle 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 atria septal defect 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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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 24 SRCAP

Anatomical Context for Floating-Harbor Syndrome

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MalaCards organs/tissues related to Floating-Harbor Syndrome:

33
Bone, Eye, Heart, Kidney, Spinal cord

Animal Models for Floating-Harbor Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Floating-Harbor Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Floating-Harbor Syndrome

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Articles related to Floating-Harbor Syndrome:

(show all 48)
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
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

Variations for Floating-Harbor Syndrome

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Clinvar genetic disease variations for Floating-Harbor Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SRCAPNM_006662.2(SRCAP): c.7000C> T (p.Gln2334Ter)single nucleotide variantPathogenicrs587777656GRCh38Chr 16, 30736616: 30736616
2SRCAPNM_006662.2(SRCAP): c.7993C> T (p.Gln2665Ter)single nucleotide variantPathogenicrs587784444GRCh38Chr 16, 30738033: 30738033
3SRCAPNM_006662.2(SRCAP): c.7330C> T (p.Arg2444Ter)single nucleotide variantPathogenicrs199469464GRCh37Chr 16, 30748691: 30748691
4SRCAPNM_006662.2(SRCAP): c.7303C> T (p.Arg2435Ter)single nucleotide variantPathogenicrs199469465GRCh37Chr 16, 30748664: 30748664
5SRCAPNM_006662.2(SRCAP): c.7549delC (p.Gln2517Lysfs)deletionPathogenicrs199469466GRCh38Chr 16, 30737589: 30737589
6SRCAPNM_006662.2(SRCAP): c.7863dupG (p.Gln2622Alafs)duplicationPathogenicrs587776938GRCh38Chr 16, 30737903: 30737903

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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GO Terms for genes affiliated with Floating-Harbor Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:00432349.1CREBBP, SRCAP

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

idNameGO IDScoreTop Affiliating Genes
1histone acetylationGO:00165739.3CREBBP, SRCAP
2viral processGO:00160329.1CREBBP, SRCAP

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

idNameGO IDScoreTop Affiliating Genes
1transcription coactivator activityGO:00037139.1CREBBP, SRCAP
2histone acetyltransferase activityGO:00044028.8CREBBP, SRCAP

Sources for Floating-Harbor Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet