MCID: FLT006
MIFTS: 43

Floating-Harbor Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Bone diseases, Smell/Taste diseases

Aliases & Classifications for Floating-Harbor Syndrome

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Sources:
50OMIM, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Floating-Harbor Syndrome:

Name: Floating-Harbor Syndrome 50 22 46 23 24 52 68 25 12 66
Pelletier-Leisti Syndrome 46 24
Flhs 24 68
Fhs 46 24
 
Short Stature with Delayed Bone Age, Expressive Language Delay, a Triangular Face with a Prominent Nose and Deep-Set Eyes 46
Leisti-Hollander-Rimoin Syndrome 24
Fetal Hydantoin Syndrome 66

Characteristics:

Orphanet epidemiological data:

52
floating-harbor syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

62
floating-harbor syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 136140
Orphanet52 ORPHA2044
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C537062
UMLS via Orphanet67 C0729582
MedGen35 C0729582
MeSH37 D000015

Summaries for Floating-Harbor Syndrome

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NIH Rare Diseases:46 Floating-harbor syndrome (fhs) is named after the two hospitals that reported the first cases in the 1970's: boston floating hospital and harbor general hospital in california. signs and symptoms of fhs include short stature, skeletal abnormalities, delayed bone age, characteristic facial features, speech and language problems, and mild to moderate intellectual disability. behavioral difficulties that are present in many children tend to improve with age. fhs is caused by a change (mutation) in the srcap gene. the mutation can be inherited from a parent or can occur for the first time in an affected individual. communication issues and developmental disabilities may be helped with early intervention programs and special education. last updated: 4/29/2016

MalaCards based summary: Floating-Harbor Syndrome, also known as pelletier-leisti syndrome, is related to hyperaldosteronism, familial, type iii 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.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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.

OMIM:50 Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age,... (136140) more...

Wikipedia:69 Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than... more...

GeneReviews summary for NBK114458

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:

 52 (show all 47)
  • wide mouth
  • thin vermilion border
  • trigonocephaly
  • short philtrum
  • triangular face
  • posteriorly rotated ears
  • recurrent otitis media
  • bulbous nose
  • underdeveloped nasal alae
  • wide nasal bridge
  • prominent nose
  • short neck
  • strabismus
  • deeply set eye
  • telecanthus
  • long eyelashes
  • abnormality of the clavicle
  • short clavicles
  • brachydactyly syndrome
  • abnormality of the fingernails
  • intellectual disability
  • global developmental delay
  • joint stiffness
  • intrauterine growth retardation
  • abnormality of the voice
  • nasal speech
  • high pitched voice
  • constipation
  • malabsorption
  • neurological speech impairment
  • generalized hirsutism
  • expressive language delay
  • malformation of the heart and great vessels
  • delayed skeletal maturation
  • enlarged joints
  • clinodactyly of the 5th finger
  • short stature
  • joint hyperflexibility
  • congenital pseudoarthrosis of the clavicle
  • generalized cerebral atrophy/hypoplasia
  • hypoplasia of penis
  • feeding difficulties in infancy
  • broad columella
  • congenital posterior urethral valve
  • broad thumb
  • camptodactyly of finger
  • abnormality of the soft palate

HPO human phenotypes related to Floating-Harbor Syndrome:

(show all 72)
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 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
37 hypoplasia of penis occasional (7.5%) HP:0008736
38 inguinal hernia rare (5%) HP:0000023
39 cryptorchidism rare (5%) HP:0000028
40 hypospadias rare (5%) HP:0000047
41 nephrocalcinosis rare (5%) HP:0000121
42 hydronephrosis rare (5%) HP:0000126
43 recurrent otitis media rare (5%) HP:0000403
44 conductive hearing impairment rare (5%) HP:0000405
45 strabismus rare (5%) HP:0000486
46 hypermetropia rare (5%) HP:0000540
47 umbilical hernia rare (5%) HP:0001537
48 atria septal defect rare (5%) HP:0001631
49 coarctation of aorta rare (5%) HP:0001680
50 persistent left superior vena cava rare (5%) HP:0005301
51 congenital posterior urethral valve rare (5%) HP:0010957
52 mesocardia rare (5%) HP:0011599
53 varicocele rare (5%) HP:0012871
54 wide mouth HP:0000154
55 thin vermilion border HP:0000233
56 smooth philtrum HP:0000319
57 triangular face HP:0000325
58 posteriorly rotated ears HP:0000358
59 prominent nose HP:0000448
60 short neck HP:0000470
61 deeply set eye HP:0000490
62 long eyelashes HP:0000527
63 hirsutism HP:0001007
64 joint laxity HP:0001388
65 low posterior hairline HP:0002162
66 expressive language delay HP:0002474
67 celiac disease HP:0002608
68 downturned corners of mouth HP:0002714
69 delayed skeletal maturation HP:0002750
70 clinodactyly of the 5th finger HP:0004209
71 short stature HP:0004322
72 cone-shaped epiphyses of the phalanges of the hand HP:0010230

UMLS symptoms related to Floating-Harbor Syndrome:


joint laxity

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 Syndrome25 23 SRCAP

Anatomical Context for Floating-Harbor Syndrome

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MalaCards organs/tissues related to Floating-Harbor Syndrome:

34
Bone, Eye, Heart, 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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Articles related to Floating-Harbor Syndrome:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
Floating Harbor Syndrome. (27206688)
2016
2
When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome. (27208210)
2016
3
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. (25433523)
2014
4
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. (22965468)
2013
5
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. (24375913)
2013
6
Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. (23763483)
2013
7
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. (23621943)
2013
8
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. (22247066)
2012
9
Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. (22570979)
2012
10
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. (21955542)
2012
11
Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome. (22263687)
2012
12
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. (22265015)
2012
13
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. (23165645)
2012
14
Growth hormone deficiency: an unusual presentation of floating harbor syndrome. (22001135)
2011
15
Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. (20185146)
2010
16
Floating-Harbor syndrome associated with middle ear abnormalities. (20014123)
2010
17
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
18
The phenotype of Floating-Harbor syndrome in 10 patients. (20358590)
2010
19
Ocular abnormalities in Floating-Harbor syndrome. (19393524)
2009
20
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. (19764022)
2009
21
Floating-Harbor syndrome: case report. (18449141)
2008
22
Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. (18978661)
2008
23
Precocious puberty in a girl with floating-harbor syndrome. (18341094)
2007
24
Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. (17955782)
2007
25
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. (16523514)
2006
26
Floating-Harbor syndrome: a first female Turkish patient? (17375535)
2006
27
Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy. (15889416)
2005
28
Floating-Harbor syndrome: case report and craniofacial phenotype characterization. (15139957)
2004
29
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. (15378536)
2004
30
First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly. (15119008)
2004
31
A variant example of familial Floating-Harbor syndrome? (12725587)
2003
32
Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? (14738118)
2003
33
Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. (11883867)
2002
34
Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. (11746027)
2001
35
Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency]. (11995206)
2000
36
Changing phenotype in Floating-Harbor syndrome. (9508066)
1998
37
A further report on a case of Floating-Harbor Syndrome in a mother and daughter. (9892052)
1998
38
Floating Harbor syndrome. Case report and further syndrome delineation. (9401100)
1997
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
The Floating-Harbor syndrome: two affected siblings in a family. (9001802)
1996
43
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. (8831134)
1996
44
Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. (7588969)
1995
45
Further observations on the Floating-Harbor syndrome. (8055134)
1994
46
Floating-Harbor Syndrome (23193612)
1993
47
Floating-Harbor syndrome and celiac disease. (2063899)
1991
48
Floating-Harbor syndrome. (2051457)
1991
49
The Floating-Harbor syndrome. (2029915)
1991
50
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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Biological processes related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone acetylationGO:00165739.4CREBBP, SRCAP
2viral processGO:00160329.1CREBBP, SRCAP

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

idNameGO IDScoreTop Affiliating Genes
1histone acetyltransferase activityGO:00044029.2CREBBP, SRCAP
2transcription coactivator activityGO:00037139.1CREBBP, SRCAP

Sources for Floating-Harbor Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet