MCID: FLT006
MIFTS: 41

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:
12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Floating-Harbor Syndrome:

Name: Floating-Harbor Syndrome 52 23 48 24 25 54 70 27 12 68
Pelletier-Leisti Syndrome 48 25
Flhs 25 70
Fhs 48 25
 
Short Stature with Delayed Bone Age, Expressive Language Delay, a Triangular Face with a Prominent Nose and Deep-Set Eyes 48
Leisti-Hollander-Rimoin Syndrome 25
Fetal Hydantoin Syndrome 68

Characteristics:

Orphanet epidemiological data:

54
floating-harbor syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
floating-harbor syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 136140
Orphanet54 ORPHA2044
MESH via Orphanet40 C537062
UMLS via Orphanet69 C0729582
ICD10 via Orphanet31 Q87.8
MedGen37 C0729582
MeSH39 D000015

Summaries for Floating-Harbor Syndrome

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NIH Rare Diseases:48 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, and related mouse phenotype Negative genetic interaction between MUS81-/- and MUS81+/+.

Genetics Home Reference:25 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:52 Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age,... (136140) more...

UniProtKB/Swiss-Prot:70 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:71 Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than... more...

GeneReviews 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 & Phenotypes for Floating-Harbor Syndrome

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Symptoms by clinical synopsis from OMIM:

136140

Clinical features from OMIM:

136140

Human phenotypes related to Floating-Harbor Syndrome:

 64 54 (show all 78)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide mouth64 54 hallmark (90%) Very frequent (99-80%) HP:0000154
2 thin vermilion border64 54 hallmark (90%) Very frequent (99-80%) HP:0000233
3 short philtrum64 54 hallmark (90%) Very frequent (99-80%) HP:0000322
4 low-set, posteriorly rotated ears64 hallmark (90%) HP:0000368
5 wide nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0000431
6 short neck64 54 hallmark (90%) Very frequent (99-80%) HP:0000470
7 abnormality of the eyelashes64 hallmark (90%) HP:0000499
8 limitation of joint mobility64 hallmark (90%) HP:0001376
9 abnormality of the voice64 54 hallmark (90%) Very frequent (99-80%) HP:0001608
10 neurological speech impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0002167
11 delayed skeletal maturation64 54 hallmark (90%) Very frequent (99-80%) HP:0002750
12 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
13 abnormality of thumb phalanx64 hallmark (90%) HP:0009602
14 broad columella64 54 hallmark (90%) Very frequent (99-80%) HP:0010761
15 triangular face64 54 typical (50%) Frequent (79-30%) HP:0000325
16 underdeveloped nasal alae64 54 typical (50%) Frequent (79-30%) HP:0000430
17 deeply set eye64 54 typical (50%) Frequent (79-30%) HP:0000490
18 abnormality of the clavicle64 54 typical (50%) Frequent (79-30%) HP:0000889
19 hypertrichosis64 typical (50%) HP:0000998
20 brachydactyly syndrome64 54 typical (50%) Frequent (79-30%) HP:0001156
21 joint dislocation64 typical (50%) HP:0001373
22 joint hypermobility64 typical (50%) HP:0001382
23 intrauterine growth retardation64 54 typical (50%) Frequent (79-30%) HP:0001511
24 constipation64 54 typical (50%) Frequent (79-30%) HP:0002019
25 malabsorption64 54 typical (50%) Frequent (79-30%) HP:0002024
26 clinodactyly of the 5th finger64 54 typical (50%) Frequent (79-30%) HP:0004209
27 abnormality of immune system physiology64 typical (50%) HP:0010978
28 camptodactyly of finger64 54 typical (50%) Frequent (79-30%) HP:0100490
29 cognitive impairment64 typical (50%) HP:0100543
30 abnormality of the soft palate64 54 typical (50%) Frequent (79-30%) HP:0100736
31 trigonocephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000243
32 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
33 telecanthus64 54 occasional (7.5%) Occasional (29-5%) HP:0000506
34 abnormality of the urethra64 occasional (7.5%) HP:0000795
35 abnormality of the fingernails64 54 occasional (7.5%) Occasional (29-5%) HP:0001231
36 attention deficit hyperactivity disorder64 occasional (7.5%) HP:0007018
37 hypoplasia of penis64 54 occasional (7.5%) Occasional (29-5%) HP:0008736
38 inguinal hernia64 rare (5%) HP:0000023
39 cryptorchidism64 rare (5%) HP:0000028
40 hypospadias64 rare (5%) HP:0000047
41 nephrocalcinosis64 rare (5%) HP:0000121
42 hydronephrosis64 rare (5%) HP:0000126
43 recurrent otitis media64 54 rare (5%) Frequent (79-30%) HP:0000403
44 conductive hearing impairment64 rare (5%) HP:0000405
45 hypermetropia64 rare (5%) HP:0000540
46 umbilical hernia64 rare (5%) HP:0001537
47 atria septal defect64 rare (5%) HP:0001631
48 coarctation of aorta64 rare (5%) HP:0001680
49 persistent left superior vena cava64 rare (5%) HP:0005301
50 congenital posterior urethral valve64 54 rare (5%) Occasional (29-5%) HP:0010957
51 mesocardia64 rare (5%) HP:0011599
52 varicocele64 rare (5%) HP:0012871
53 smooth philtrum64 HP:0000319
54 posteriorly rotated ears64 54 Very frequent (99-80%) HP:0000358
55 prominent nose64 54 Very frequent (99-80%) HP:0000448
56 long eyelashes64 54 Very frequent (99-80%) HP:0000527
57 hirsutism64 HP:0001007
58 joint laxity64 HP:0001388
59 low posterior hairline64 HP:0002162
60 expressive language delay64 54 Very frequent (99-80%) HP:0002474
61 celiac disease64 HP:0002608
62 downturned corners of mouth64 HP:0002714
63 cone-shaped epiphyses of the phalanges of the hand64 HP:0010230
64 bulbous nose54 Very frequent (99-80%)
65 short clavicles54 Frequent (79-30%)
66 intellectual disability54 Frequent (79-30%)
67 global developmental delay54 Frequent (79-30%)
68 joint stiffness54 Very frequent (99-80%)
69 nasal speech54 Very frequent (99-80%)
70 high pitched voice54 Very frequent (99-80%)
71 generalized hirsutism54 Frequent (79-30%)
72 malformation of the heart and great vessels54 Occasional (29-5%)
73 enlarged joints54 Frequent (79-30%)
74 joint hyperflexibility54 Frequent (79-30%)
75 congenital pseudoarthrosis of the clavicle54 Frequent (79-30%)
76 generalized cerebral atrophy/hypoplasia54 Occasional (29-5%)
77 feeding difficulties in infancy54 Frequent (79-30%)
78 broad thumb54 Very frequent (99-80%)

UMLS symptoms related to Floating-Harbor Syndrome:


joint laxity

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00255-A-29.1CREBBP, SRCAP

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 Syndrome27 24 SRCAP

Anatomical Context for Floating-Harbor Syndrome

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MalaCards organs/tissues related to Floating-Harbor Syndrome:

36
Bone, Eye, Heart, Kidney, Spinal cord

Publications for Floating-Harbor Syndrome

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Articles related to Floating-Harbor Syndrome:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
Chiari I malformation as part of the Floating-Harbor syndrome? (27815143)
2016
2
Floating Harbor Syndrome. (27206688)
2016
3
When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome. (27208210)
2016
4
The defining DNA methylation signature of Floating-Harbor Syndrome. (27934915)
2016
5
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. (25433523)
2014
6
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. (22965468)
2013
7
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. (24375913)
2013
8
Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. (23763483)
2013
9
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. (23621943)
2013
10
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. (22247066)
2012
11
Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. (22570979)
2012
12
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. (21955542)
2012
13
Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome. (22263687)
2012
14
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. (22265015)
2012
15
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. (23165645)
2012
16
Growth hormone deficiency: an unusual presentation of floating harbor syndrome. (22001135)
2011
17
Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. (20185146)
2010
18
Floating-Harbor syndrome associated with middle ear abnormalities. (20014123)
2010
19
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
20
The phenotype of Floating-Harbor syndrome in 10 patients. (20358590)
2010
21
Ocular abnormalities in Floating-Harbor syndrome. (19393524)
2009
22
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. (19764022)
2009
23
Floating-Harbor syndrome: case report. (18449141)
2008
24
Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. (18978661)
2008
25
Precocious puberty in a girl with floating-harbor syndrome. (18341094)
2007
26
Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. (17955782)
2007
27
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. (16523514)
2006
28
Floating-Harbor syndrome: a first female Turkish patient? (17375535)
2006
29
Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy. (15889416)
2005
30
Floating-Harbor syndrome: case report and craniofacial phenotype characterization. (15139957)
2004
31
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. (15378536)
2004
32
First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly. (15119008)
2004
33
A variant example of familial Floating-Harbor syndrome? (12725587)
2003
34
Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? (14738118)
2003
35
Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. (11883867)
2002
36
Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. (11746027)
2001
37
Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency]. (11995206)
2000
38
Changing phenotype in Floating-Harbor syndrome. (9508066)
1998
39
A further report on a case of Floating-Harbor Syndrome in a mother and daughter. (9892052)
1998
40
Floating Harbor syndrome. Case report and further syndrome delineation. (9401100)
1997
41
The floating harbor syndrome with cardiac septal defect. (8985491)
1996
42
Floating-Harbor syndrome. A neuropsychological approach. (8985732)
1996
43
Two more diagnostic signs in the Floating-Harbor syndrome. (8867666)
1996
44
The Floating-Harbor syndrome: two affected siblings in a family. (9001802)
1996
45
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. (8831134)
1996
46
Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. (7588969)
1995
47
Further observations on the Floating-Harbor syndrome. (8055134)
1994
48
Floating-Harbor Syndrome (23193612)
1993
49
Floating-Harbor syndrome and celiac disease. (2063899)
1991
50
Floating-Harbor syndrome. (2051457)
1991

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)SNVPathogenicrs587777656GRCh38Chr 16, 30736616: 30736616
2SRCAPNM_006662.2(SRCAP): c.7993C> T (p.Gln2665Ter)SNVPathogenicrs587784444GRCh38Chr 16, 30738033: 30738033
3SRCAPNM_006662.2(SRCAP): c.7330C> T (p.Arg2444Ter)SNVPathogenicrs199469464GRCh37Chr 16, 30748691: 30748691
4SRCAPNM_006662.2(SRCAP): c.7303C> T (p.Arg2435Ter)SNVPathogenicrs199469465GRCh37Chr 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:00165739.8CREBBP, 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:00044029.7CREBBP, SRCAP
2transcription coactivator activityGO:00037139.1CREBBP, SRCAP

Sources for Floating-Harbor Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet